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class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Rabson-Mendenhall-Syndrom" title="Rabson-Mendenhall-Syndrom – German" lang="de" hreflang="de" data-title="Rabson-Mendenhall-Syndrom" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Sindrome_di_Rabson-Mendenhall" title="Sindrome di Rabson-Mendenhall – Italian" lang="it" hreflang="it" data-title="Sindrome di Rabson-Mendenhall" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Zesp%C3%B3%C5%82_Rabsona-Mendenhalla" title="Zespół Rabsona-Mendenhalla – Polish" lang="pl" hreflang="pl" 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div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">Rabson–Mendenhall syndrome</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Endocrinology" title="Endocrinology">Endocrinology</a> <span class="penicon autoconfirmed-show"><span class="mw-valign-text-top" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q3961685?uselang=en#P1995" title="Edit this on Wikidata"><img alt="Edit this on Wikidata" src="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/10px-OOjs_UI_icon_edit-ltr-progressive.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/15px-OOjs_UI_icon_edit-ltr-progressive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/20px-OOjs_UI_icon_edit-ltr-progressive.svg.png 2x" data-file-width="20" data-file-height="20" /></a></span></span></td></tr></tbody></table> <p><b>Rabson–Mendenhall syndrome</b> is a rare <a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">autosomal recessive</a> disorder characterized by severe <a href="/wiki/Insulin" title="Insulin">insulin</a> resistance. The disorder is caused by mutations in the insulin receptor gene. Symptoms include growth abnormalities of the head, face and nails, along with the development of <a href="/wiki/Acanthosis_nigricans" title="Acanthosis nigricans">acanthosis nigricans</a>. Treatment involves controlling blood glucose levels by using insulin and incorporating a strategically planned, controlled diet. Also, direct actions against other symptoms may be taken (e.g. surgery for facial abnormalities) This syndrome usually affects children and has a prognosis of 1–2 years. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Presentation">Presentation</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Rabson%E2%80%93Mendenhall_syndrome&action=edit&section=1" title="Edit section: Presentation"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The symptoms of Rabson–Mendenhall syndrome vary from case to case. Major symptoms of Rabson–Mendenhall syndrome include abnormalities of the teeth and nails, such as dental <a href="/wiki/Dysplasia" title="Dysplasia">dysplasia</a>, and deformities of the head and face, which include a coarse prematurely-aged facial appearance with a prominent jaw. A skin abnormality known as acanthosis nigricans, which involves a discoloration (<a href="/wiki/Hyperpigmentation" title="Hyperpigmentation">hyperpigmentation</a>) and "velvety" thickening (<a href="/wiki/Hyperkeratosis" title="Hyperkeratosis">hyperkeratosis</a>) of the skin around skin fold regions of the neck, groin and under arms is also a common symptom.<sup id="cite_ref-Parveen_2008_1-0" class="reference"><a href="#cite_note-Parveen_2008-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Symptoms will negatively impact the daily life of the patient, and will persist until treated.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (November 2020)">citation needed</span></a></i>]</sup> </p><p>Minor symptoms may include an enlargement of the genitalia and <a href="/wiki/Precocious_puberty" title="Precocious puberty">precocious puberty</a> and a deficiency or absence of fat tissue. Because individuals with Rabson–Mendenhall syndrome fail to use insulin properly, they may experience abnormally high blood sugar levels (<a href="/wiki/Hyperglycemia" title="Hyperglycemia">hyperglycemia</a>) after eating a meal, and abnormally low blood sugar levels (<a href="/wiki/Hypoglycemia" title="Hypoglycemia">hypoglycemia</a>) when not eating.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (November 2020)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Mechanism">Mechanism</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Rabson%E2%80%93Mendenhall_syndrome&action=edit&section=2" title="Edit section: Mechanism"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size mw-halign-right" typeof="mw:File/Thumb"><a href="/wiki/File:Autorecessive.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/3/3e/Autorecessive.svg/220px-Autorecessive.svg.png" decoding="async" width="220" height="257" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/3/3e/Autorecessive.svg/330px-Autorecessive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/3/3e/Autorecessive.svg/440px-Autorecessive.svg.png 2x" data-file-width="1350" data-file-height="1580" /></a><figcaption>Rabson–Mendenhall syndrome has an autosomal recessive pattern of inheritance.</figcaption></figure> <p>The condition is transmitted as an <a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">autosomal recessive</a> trait, and often affects children of consanguineous parents.<sup id="cite_ref-Semple_2011_2-0" class="reference"><a href="#cite_note-Semple_2011-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> The physical findings and symptoms vary greatly among each individual.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (November 2020)">citation needed</span></a></i>]</sup> </p><p>Genetic diseases are determined by two genes, one from the mother and one from the father. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If one of the inherited genes is normal, while the other is for the disease, the person will only be a carrier and will not display any symptoms.<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> </p><p>The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25 percent with each pregnancy.<sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> The risk to have a child who is a carrier like the parents is 50 percent with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25 percent.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (November 2020)">citation needed</span></a></i>]</sup> </p><p>Researchers have determined that the Rabson–Mendenhall syndrome is caused by mutations of the <a href="/wiki/Insulin_receptor" title="Insulin receptor">insulin receptor</a> gene. The insulin receptor gene is located on the short arm (p) of <a href="/wiki/Chromosome_19" title="Chromosome 19">chromosome 19</a>. Mutations of the insulin-receptor gene lead to an alteration of structure or reduced number of insulin receptors. This results in reduced binding of insulin, and may also lead to abnormalities in the post-receptor pathway. Individuals with Rabson-Mendenall syndrome will need ways to compensate for their insulin resistance, and may do this by increasing insulin secretion. This can lead to excessive insulin levels in the blood (<a href="/wiki/Hyperinsulinemia" title="Hyperinsulinemia">hyperinsulinemia</a>), which can be responsible for multiple symptoms. Definitive genotype–phenotype correlation for insulin receptor defects is difficult to establish primarily due to the rarity of these syndromes.<sup id="cite_ref-Ardon_2014_5-0" class="reference"><a href="#cite_note-Ardon_2014-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> However, researchers believe more severe phenotype changes are due to a mutation in the alpha subunit of the receptor.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Identifying_reliable_sources_(medicine)" title="Wikipedia:Identifying reliable sources (medicine)"><span title="Material near this tag needs references to reliable medical sources. (January 2020)">medical citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Rabson%E2%80%93Mendenhall_syndrome&action=edit&section=3" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>A combination of clinical findings and laboratory tests are used to diagnose Rabson-Mendenhall Syndrome. Initially, individuals are screened for symptoms and have their blood sugar levels analyzed. The two principle tests used to determine insulin resistance are the <a href="/wiki/Fasting_plasma_glucose" class="mw-redirect" title="Fasting plasma glucose">fasting plasma glucose</a> test (FPG) and the oral <a href="/wiki/Glucose_tolerance_test" title="Glucose tolerance test">glucose tolerance test</a> (GTT). Results from a patient with severe insulin resistance will show values exceeding healthy ranges (≤99 mg/dL for FPG and ≤139 mg/dL for GTT) by over 50 units.<sup id="cite_ref-Semple_2011_2-1" class="reference"><a href="#cite_note-Semple_2011-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> A genetic history is also established to determine risk of recurrence in the family. Based on the combination of these findings, an appropriate diagnosis is made.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (November 2020)">citation needed</span></a></i>]</sup> </p><p>Rabson–Mendenhall syndrome is commonly associated with <a href="/wiki/Donohue_syndrome" title="Donohue syndrome">Donohue syndrome</a>, also known as "Leprechaunism". Both diseases are autosomal <a href="/wiki/Recessive_disorders" class="mw-redirect" title="Recessive disorders">recessive disorders</a> caused by mutations on chromosome 19. Severe insulin resistance and an irregular enlargement of the genitalia are also overlapping symptoms.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (November 2020)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading3"><h3 id="Clinical_presentation">Clinical presentation</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Rabson%E2%80%93Mendenhall_syndrome&action=edit&section=4" title="Edit section: Clinical presentation"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Rabson and Mendenhall described 3 sibling (2 girls, 1 boy) who initially presented with dental and skin abnormalities, abdominal distention, and phallic enlargement.<sup id="cite_ref-Rabson_1956_6-0" class="reference"><a href="#cite_note-Rabson_1956-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> The children demonstrated early <a href="/wiki/Dentition" title="Dentition">dentition</a>, a coarse, senile-appearing <a href="https://en.wiktionary.org/wiki/facies" class="extiw" title="wikt:facies">facies</a>, and striking <a href="/wiki/Hirsutism" title="Hirsutism">hirsutism</a>. An "adult growth of hair of head" at 5 years of age was pictured in the case of one of the girls. In the older girl the genitalia were large enough at the age of 6 months to permit vaginal examination for diagnosis of a left <a href="/wiki/Ovarian_tumor" title="Ovarian tumor">ovarian tumor</a> which was removed soon afterward. The children were mentally precocious. <a href="/wiki/Prognathism" title="Prognathism">Prognathism</a> and very thick fingernails as well as acanthosis nigricans were also described. <a href="/wiki/Diabetes_mellitus_type_2" class="mw-redirect" title="Diabetes mellitus type 2">Insulin-resistant diabetes</a> developed, and the patients died during childhood of <a href="/wiki/Ketoacidosis" title="Ketoacidosis">ketoacidosis</a> and intercurrent infections. At autopsy pineal <a href="/wiki/Hyperplasia" title="Hyperplasia">hyperplasia</a> was found in all three.<sup id="cite_ref-Rabson_1956_6-1" class="reference"><a href="#cite_note-Rabson_1956-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> </p><p>Biologically, infants display fasting <a href="/wiki/Hypoglycemia" title="Hypoglycemia">hypoglycemia</a>, postprandial hyperglycemia and <a href="/wiki/Hyperinsulinemia" title="Hyperinsulinemia">hyperinsulinemia</a>, which progress to permanent hyperglycemia and recurrent <a href="/wiki/Diabetic_ketoacidosis" title="Diabetic ketoacidosis">diabetic ketoacidosis</a>.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (November 2020)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Treatment">Treatment</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Rabson%E2%80%93Mendenhall_syndrome&action=edit&section=5" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>There is no known cure for Rabson–Mendenhall syndrome. However, a series of steps can be directed towards treating the specific symptoms. For example, surgery may be performed to treat dental abnormalities. Furthermore, the goal of the treatment is also to maintain blood glucose levels as constantly as possible. Insulin is not as effective at normal doses, and even large doses show minimal effects. Frequent feeding is the most effective treatment to control blood glucose levels. Well thought out meals with complex combinations of carbohydrates are put together and assigned to the patient in hope of seeing a constant glucose level maintained.<sup id="cite_ref-Ardon_2014_5-1" class="reference"><a href="#cite_note-Ardon_2014-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> Though effective, these treatments tend to show more of an impact initially, and can become ineffective within months.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (November 2020)">citation needed</span></a></i>]</sup> </p><p>Treatment of Rabson–Mendenhall syndrome with pharmacologic doses of human <a href="/wiki/Leptin" title="Leptin">leptin</a> may result in improvement of fasting hyperglycemia, hyperinsulinemia, basal glucose, and glucose and insulin tolerance.<sup id="cite_ref-Cochran_2004_7-0" class="reference"><a href="#cite_note-Cochran_2004-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Prognosis">Prognosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Rabson%E2%80%93Mendenhall_syndrome&action=edit&section=6" title="Edit section: Prognosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Quality of life is impacted severely and the prognosis of patients with Rabson–Mendenhall syndrome remains poor. This is due to the lack of a long-term treatment. Life expectancy is 1–2 years.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (November 2020)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Recent_research">Recent research</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Rabson%E2%80%93Mendenhall_syndrome&action=edit&section=7" title="Edit section: Recent research"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Recent research has been directed towards finding better treatment options. Multi-drug therapy using insulin sensitizers, such as <a href="/wiki/Metformin" title="Metformin">metformin</a> and <a href="/wiki/Pioglitazone" title="Pioglitazone">pioglitazone</a>, has been linked to improving residual insulin action.<sup id="cite_ref-Rodrigo_2010_8-0" class="reference"><a href="#cite_note-Rodrigo_2010-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> High doses of <a href="/wiki/Insulin-like_growth_factor_1" title="Insulin-like growth factor 1">insulin-like growth factor 1</a> has also been effective in patients with Rabson–Mendenhall syndrome.<sup id="cite_ref-Longo_2010_9-0" class="reference"><a href="#cite_note-Longo_2010-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> Though there is no cure, researchers remain optimistic on finding a cure.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Identifying_reliable_sources_(medicine)" title="Wikipedia:Identifying reliable sources (medicine)"><span title="Material near this tag needs references to reliable medical sources. (January 2020)">medical citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Rabson%E2%80%93Mendenhall_syndrome&action=edit&section=8" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap"><ol class="references"> <li id="cite_note-Parveen_2008-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-Parveen_2008_1-0">^</a></b></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite id="CITEREFParveen_BR_Sindhuja2008" class="citation journal cs1">Parveen B; R Sindhuja (2008). "Medical Genetics: Case Report. Rabson-Mendenhall Syndrome". <i>International Journal of Dermatology</i>. <b>47</b> (8): 839–841. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1111%2Fj.1365-4632.2008.03591.x">10.1111/j.1365-4632.2008.03591.x</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/18717867">18717867</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:5770122">5770122</a>.</cite><span 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detection of two novel mutations in INSR gene"</a>. <i>Molecular Genetics and Metabolism Report</i>. <b>1</b>: 71–84. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.ymgmr.2013.12.006">10.1016/j.ymgmr.2013.12.006</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121292">5121292</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/27896077">27896077</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Molecular+Genetics+and+Metabolism+Report&rft.atitle=Sequencing+analysis+of+insulin+receptor+defects+and+detection+of+two+novel+mutations+in+INSR+gene&rft.volume=1&rft.pages=71-84&rft.date=2014&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC5121292%23id-name%3DPMC&rft_id=info%3Apmid%2F27896077&rft_id=info%3Adoi%2F10.1016%2Fj.ymgmr.2013.12.006&rft.aulast=Ardon&rft.aufirst=O&rft.au=Longo%2C+N&rft.au=Mao%2C+R&rft.au=Procter%2C+M&rft.au=Tvrdik%2C+T&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC5121292&rfr_id=info%3Asid%2Fen.wikipedia.org%3ARabson%E2%80%93Mendenhall+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Rabson_1956-6"><span class="mw-cite-backlink">^ <a href="#cite_ref-Rabson_1956_6-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Rabson_1956_6-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFRabsonMendenhall1956" class="citation journal cs1">Rabson S, Mendenhall E (1956). "Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases". <i>Am J Clin Pathol</i>. <b>26</b> (3): 283–90. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1093%2Fajcp%2F26.3.283">10.1093/ajcp/26.3.283</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/13302174">13302174</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Am+J+Clin+Pathol&rft.atitle=Familial+hypertrophy+of+pineal+body%2C+hyperplasia+of+adrenal+cortex+and+diabetes+mellitus%3B+report+of+3+cases&rft.volume=26&rft.issue=3&rft.pages=283-90&rft.date=1956&rft_id=info%3Adoi%2F10.1093%2Fajcp%2F26.3.283&rft_id=info%3Apmid%2F13302174&rft.aulast=Rabson&rft.aufirst=S&rft.au=Mendenhall%2C+E&rfr_id=info%3Asid%2Fen.wikipedia.org%3ARabson%E2%80%93Mendenhall+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Cochran_2004-7"><span class="mw-cite-backlink"><b><a href="#cite_ref-Cochran_2004_7-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFCochranYoungSebringDePaoli2004" class="citation journal cs1">Cochran E, Young J, Sebring N, DePaoli A, Oral E, Gorden P (2004). <a rel="nofollow" class="external text" href="https://doi.org/10.1210%2Fjc.2003-031952">"Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome"</a>. <i>J Clin Endocrinol Metab</i>. <b>89</b> (4): 1548–54. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1210%2Fjc.2003-031952">10.1210/jc.2003-031952</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/15070911">15070911</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=J+Clin+Endocrinol+Metab&rft.atitle=Efficacy+of+recombinant+methionyl+human+leptin+therapy+for+the+extreme+insulin+resistance+of+the+Rabson-Mendenhall+syndrome&rft.volume=89&rft.issue=4&rft.pages=1548-54&rft.date=2004&rft_id=info%3Adoi%2F10.1210%2Fjc.2003-031952&rft_id=info%3Apmid%2F15070911&rft.aulast=Cochran&rft.aufirst=E&rft.au=Young%2C+J&rft.au=Sebring%2C+N&rft.au=DePaoli%2C+A&rft.au=Oral%2C+E&rft.au=Gorden%2C+P&rft_id=https%3A%2F%2Fdoi.org%2F10.1210%252Fjc.2003-031952&rfr_id=info%3Asid%2Fen.wikipedia.org%3ARabson%E2%80%93Mendenhall+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Rodrigo_2010-8"><span class="mw-cite-backlink"><b><a href="#cite_ref-Rodrigo_2010_8-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMoreiraZaguryNascimento2010" class="citation journal cs1">Moreira R, Zagury L, Nascimento T (2010). "Multidrug therapy in a patient with Rabson-Mendenhall syndrome". <i>Diabetologia</i>. <b>53</b> (11): 2454–2455. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1007%2Fs00125-010-1879-5">10.1007/s00125-010-1879-5</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20711714">20711714</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:41077910">41077910</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Diabetologia&rft.atitle=Multidrug+therapy+in+a+patient+with+Rabson-Mendenhall+syndrome&rft.volume=53&rft.issue=11&rft.pages=2454-2455&rft.date=2010&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A41077910%23id-name%3DS2CID&rft_id=info%3Apmid%2F20711714&rft_id=info%3Adoi%2F10.1007%2Fs00125-010-1879-5&rft.aulast=Moreira&rft.aufirst=R&rft.au=Zagury%2C+L&rft.au=Nascimento%2C+T&rfr_id=info%3Asid%2Fen.wikipedia.org%3ARabson%E2%80%93Mendenhall+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Longo_2010-9"><span class="mw-cite-backlink"><b><a href="#cite_ref-Longo_2010_9-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFLongoSinghGriffinLangley2010" class="citation journal cs1">Longo N, Singh R, Griffin LD, Langley SD, Parks JS (2010). "Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I". <i>J. Clin. Endocrinol. Metab</i>. <b>79</b> (3): 799–805. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1210%2Fjcem.79.3.8077364">10.1210/jcem.79.3.8077364</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/8077364">8077364</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=J.+Clin.+Endocrinol.+Metab.&rft.atitle=Impaired+growth+in+Rabson-Mendenhall+syndrome%3A+lack+of+effect+of+growth+hormone+and+insulin-like+growth+factor-I&rft.volume=79&rft.issue=3&rft.pages=799-805&rft.date=2010&rft_id=info%3Adoi%2F10.1210%2Fjcem.79.3.8077364&rft_id=info%3Apmid%2F8077364&rft.aulast=Longo&rft.aufirst=N&rft.au=Singh%2C+R&rft.au=Griffin%2C+LD&rft.au=Langley%2C+SD&rft.au=Parks%2C+JS&rfr_id=info%3Asid%2Fen.wikipedia.org%3ARabson%E2%80%93Mendenhall+syndrome" class="Z3988"></span></span> </li> </ol></div></div> <p>10.Atray A, Jahnavi S, Thai K, Hiremath P, Anjana R M, Unnikrishnan R, Mohan V, Radha V-Rabson Mendenhall Syndrome; a case report(2013);Journal of Diabetology, June 2013; 2:4. </p> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a 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class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q3961685" class="extiw" title="d:Q3961685">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/E13">E13</a></li><li><b><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a></b>: <a rel="nofollow" class="external text" href="https://omim.org/entry/262190">262190</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/Orphanet" title="Orphanet">Orphanet</a></b>: <a rel="nofollow" class="external text" href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=769">769</a></li></ul></div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Disease_of_the_pancreas_and_glucose_metabolism" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output .navbar{display:inline;font-size:88%;font-weight:normal}.mw-parser-output .navbar-collapse{float:left;text-align:left}.mw-parser-output .navbar-boxtext{word-spacing:0}.mw-parser-output .navbar ul{display:inline-block;white-space:nowrap;line-height:inherit}.mw-parser-output .navbar-brackets::before{margin-right:-0.125em;content:"[ "}.mw-parser-output .navbar-brackets::after{margin-left:-0.125em;content:" ]"}.mw-parser-output .navbar li{word-spacing:-0.125em}.mw-parser-output .navbar a>span,.mw-parser-output .navbar a>abbr{text-decoration:inherit}.mw-parser-output .navbar-mini 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class="nv-edit"><a href="/wiki/Special:EditPage/Template:Disease_of_the_pancreas_and_glucose_metabolism" title="Special:EditPage/Template:Disease of the pancreas and glucose metabolism"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Disease_of_the_pancreas_and_glucose_metabolism" style="font-size:114%;margin:0 4em">Disease of the <a href="/wiki/Pancreatic_disease" title="Pancreatic disease">pancreas</a> and <a href="/wiki/Glucose_metabolism_disorder" class="mw-redirect" title="Glucose metabolism disorder">glucose metabolism</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Diabetes_mellitus" class="mw-redirect" title="Diabetes mellitus">Diabetes</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li>Types <ul><li><a href="/wiki/Type_1_diabetes" title="Type 1 diabetes">type 1</a></li> <li><a href="/wiki/Type_2_diabetes" title="Type 2 diabetes">type 2</a></li> <li><a href="/wiki/Gestational_diabetes" title="Gestational diabetes">gestational</a></li> <li><a href="/wiki/Maturity_onset_diabetes_of_the_young" class="mw-redirect" title="Maturity onset diabetes of the young">MODY</a> <a href="/wiki/MODY_1" title="MODY 1">1</a> <a href="/wiki/MODY_2" title="MODY 2">2</a> <a href="/wiki/MODY_3" title="MODY 3">3</a> <a href="/wiki/MODY_4" title="MODY 4">4</a> <a href="/wiki/MODY_5" class="mw-redirect" title="MODY 5">5</a> <a href="/wiki/MODY_6" title="MODY 6">6</a></li></ul></li> <li><a href="/wiki/Complications_of_diabetes_mellitus" class="mw-redirect" title="Complications of diabetes mellitus">Complications</a> <ul><li>See <a href="/wiki/Template:Diabetes" title="Template:Diabetes">Template:Diabetes</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Abnormal <a href="/wiki/Blood_glucose" class="mw-redirect" title="Blood glucose">blood glucose</a> levels</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hyperglycemia" title="Hyperglycemia">Hyperglycemia</a> <ul><li><a href="/wiki/Oxyhyperglycemia" title="Oxyhyperglycemia">Oxyhyperglycemia</a></li></ul></li> <li><a href="/wiki/Hypoglycemia" title="Hypoglycemia">Hypoglycemia</a> <ul><li><a href="/wiki/Whipple%27s_triad" title="Whipple's triad">Whipple's triad</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Insulin" title="Insulin">Insulin</a> disorders</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Insulin_resistance" title="Insulin resistance">Insulin resistance</a></li> <li><a href="/wiki/Hyperinsulinism" title="Hyperinsulinism">Hyperinsulinism</a> <ul><li><a href="/wiki/Congenital_hyperinsulinism" title="Congenital hyperinsulinism">Congenital hyperinsulinism</a></li></ul></li> <li><a class="mw-selflink selflink">Rabson–Mendenhall syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other pancreatic disorders and conditions</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Pancreatic_beta_cell_function" title="Pancreatic beta cell function">Pancreatic beta cell function</a></li> <li><a href="/wiki/Insulinoma" title="Insulinoma">Insulinoma</a></li> <li><a href="/wiki/Insulitis" title="Insulitis">Insulitis</a></li></ul> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Cell_surface_receptor_deficiencies" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Cell_surface_receptor_deficiencies" title="Template:Cell surface receptor deficiencies"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Cell_surface_receptor_deficiencies" title="Template talk:Cell surface receptor deficiencies"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Cell_surface_receptor_deficiencies" title="Special:EditPage/Template:Cell surface receptor deficiencies"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Cell_surface_receptor_deficiencies" style="font-size:114%;margin:0 4em"><a href="/wiki/Cell_surface_receptor" title="Cell surface receptor">Cell surface receptor</a> deficiencies</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/G_protein-coupled_receptor" title="G protein-coupled receptor">G protein-coupled receptor</a><br />(including <a href="/wiki/Hormone_receptor" title="Hormone receptor">hormone</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Class A</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Thyrotropin_receptor" title="Thyrotropin receptor">TSHR</a></i> (<a href="/wiki/Congenital_hypothyroidism" title="Congenital hypothyroidism">Congenital hypothyroidism 1</a>)</li> <li><i><a href="/wiki/Luteinizing_hormone/choriogonadotropin_receptor" title="Luteinizing hormone/choriogonadotropin receptor">LHCGR</a></i> (<a href="/wiki/Luteinizing_hormone_insensitivity" class="mw-redirect" title="Luteinizing hormone insensitivity">Luteinizing hormone insensitivity</a>, <a href="/wiki/Leydig_cell_hypoplasia" title="Leydig cell hypoplasia">Leydig cell hypoplasia</a>, <a href="/wiki/Male-limited_precocious_puberty" class="mw-redirect" title="Male-limited precocious puberty">Male-limited precocious puberty</a>)</li> <li><i><a href="/wiki/FSH-receptor" class="mw-redirect" title="FSH-receptor">FSHR</a></i> (<a href="/wiki/Follicle-stimulating_hormone_insensitivity" title="Follicle-stimulating hormone insensitivity">Follicle-stimulating hormone insensitivity</a>, <a href="/wiki/XX_gonadal_dysgenesis" title="XX gonadal dysgenesis">XX gonadal dysgenesis</a>)</li> <li><i><a href="/wiki/Gonadotropin-releasing_hormone_receptor" title="Gonadotropin-releasing hormone receptor">GnRHR</a></i> (<a href="/wiki/Gonadotropin-releasing_hormone_insensitivity" title="Gonadotropin-releasing hormone insensitivity">Gonadotropin-releasing hormone insensitivity</a>)</li> <li><i><a href="/wiki/Endothelin_receptor" title="Endothelin receptor">EDNRB</a></i> (<a href="/wiki/ABCD_syndrome" title="ABCD syndrome">ABCD syndrome</a>, <a href="/wiki/Waardenburg_syndrome" title="Waardenburg syndrome">Waardenburg syndrome 4a</a>, <a href="/wiki/Hirschsprung%27s_disease" title="Hirschsprung's disease">Hirschsprung's disease 2</a>)</li> <li><i><a href="/wiki/AVPR2" class="mw-redirect" title="AVPR2">AVPR2</a></i> (<a href="/wiki/Nephrogenic_diabetes_insipidus" title="Nephrogenic diabetes insipidus">Nephrogenic diabetes insipidus 1</a>)</li> <li><i><a href="/wiki/Prostaglandin_E2_receptor" title="Prostaglandin E2 receptor">PTGER2</a></i> (<a href="/wiki/Aspirin-exacerbated_respiratory_disease" title="Aspirin-exacerbated respiratory disease">Aspirin-exacerbated respiratory disease</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class B</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/PTH1R" class="mw-redirect" title="PTH1R">PTH1R</a></i> (<a href="/wiki/Jansen%27s_metaphyseal_chondrodysplasia" title="Jansen's metaphyseal chondrodysplasia">Jansen's metaphyseal chondrodysplasia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class C</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Calcium-sensing_receptor" title="Calcium-sensing receptor">CASR</a></i> (<a href="/wiki/Familial_hypocalciuric_hypercalcemia" title="Familial hypocalciuric hypercalcemia">Familial hypocalciuric hypercalcemia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class F</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/FZD4" class="mw-redirect" title="FZD4">FZD4</a></i> (<a href="/wiki/Familial_exudative_vitreoretinopathy" title="Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy 1</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Enzyme-linked_receptor" title="Enzyme-linked receptor">Enzyme-linked receptor</a><br />(including<br /><a href="/wiki/Growth_factor_receptor" title="Growth factor receptor">growth factor</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Receptor_tyrosine_kinase" title="Receptor tyrosine kinase">RTK</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ROR2" title="ROR2">ROR2</a></i> (<a href="/wiki/Robinow_syndrome" title="Robinow syndrome">Robinow syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_1" title="Fibroblast growth factor receptor 1">FGFR1</a></i> (<a href="/wiki/Pfeiffer_syndrome" title="Pfeiffer syndrome">Pfeiffer syndrome</a>, <a href="/wiki/Kallmann_syndrome" title="Kallmann syndrome">KAL2 Kallmann syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_2" title="Fibroblast growth factor receptor 2">FGFR2</a></i> (<a href="/wiki/Apert_syndrome" title="Apert syndrome">Apert syndrome</a>, <a href="/wiki/Antley%E2%80%93Bixler_syndrome" title="Antley–Bixler syndrome">Antley–Bixler syndrome</a>, <a href="/wiki/Pfeiffer_syndrome" title="Pfeiffer syndrome">Pfeiffer syndrome</a>, <a href="/wiki/Crouzon_syndrome" title="Crouzon syndrome">Crouzon syndrome</a>, <a href="/wiki/Jackson%E2%80%93Weiss_syndrome" title="Jackson–Weiss syndrome">Jackson–Weiss syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_3" title="Fibroblast growth factor receptor 3">FGFR3</a></i> (<a href="/wiki/Achondroplasia" title="Achondroplasia">Achondroplasia</a>, <a href="/wiki/Hypochondroplasia" title="Hypochondroplasia">Hypochondroplasia</a>, <a href="/wiki/Thanatophoric_dysplasia" title="Thanatophoric dysplasia">Thanatophoric dysplasia</a>, <a href="/wiki/Muenke_syndrome" title="Muenke syndrome">Muenke syndrome</a>)</li> <li><i><a href="/wiki/Insulin_receptor" title="Insulin receptor">INSR</a></i> (<a href="/wiki/Donohue_syndrome" title="Donohue syndrome">Donohue syndrome</a></li> <li><a class="mw-selflink selflink">Rabson–Mendenhall syndrome</a>)</li> <li><i><a href="/wiki/TrkA_receptor" class="mw-redirect" title="TrkA receptor">NTRK1</a></i> (<a href="/wiki/Congenital_insensitivity_to_pain_with_anhidrosis" title="Congenital insensitivity to pain with anhidrosis">Congenital insensitivity to pain with anhidrosis</a>)</li> <li><i><a href="/wiki/CD117" class="mw-redirect" title="CD117">KIT</a></i> (<a href="/wiki/Piebaldism" title="Piebaldism">KIT Piebaldism</a>, <a href="/wiki/Gastrointestinal_stromal_tumor" title="Gastrointestinal stromal tumor">Gastrointestinal stromal tumor</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Serine/threonine-specific_protein_kinase" title="Serine/threonine-specific protein kinase">STPK</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Anti-M%C3%BCllerian_hormone_receptor" title="Anti-Müllerian hormone receptor">AMHR2</a></i> (<a href="/wiki/Persistent_M%C3%BCllerian_duct_syndrome" title="Persistent Müllerian duct syndrome">Persistent Müllerian duct syndrome II</a>)</li></ul> <ul><li><a href="/wiki/TGF_beta_receptors" class="mw-redirect" title="TGF beta receptors">TGF beta receptors</a>: <a href="/wiki/Endoglin" title="Endoglin">Endoglin</a>/<a href="/wiki/ACVRL1" title="ACVRL1">Alk-1</a>/<a href="/wiki/Mothers_against_decapentaplegic_homolog_4" title="Mothers against decapentaplegic homolog 4">SMAD4</a> (<a href="/wiki/Hereditary_hemorrhagic_telangiectasia" title="Hereditary hemorrhagic telangiectasia">Hereditary hemorrhagic telangiectasia</a>)</li> <li><a href="/wiki/TGF_beta_receptor_1" title="TGF beta receptor 1">TGFBR1</a>/<a href="/wiki/TGF_beta_receptor_2" title="TGF beta receptor 2">TGFBR2</a> (<a href="/wiki/Loeys%E2%80%93Dietz_syndrome" title="Loeys–Dietz syndrome">Loeys–Dietz syndrome</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Guanylate_cyclase" title="Guanylate cyclase">GC</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/GUCY2D" title="GUCY2D">GUCY2D</a></i> (<a href="/wiki/Leber%27s_congenital_amaurosis" class="mw-redirect" title="Leber's congenital amaurosis">Leber's congenital amaurosis 1</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/JAK-STAT_signaling_pathway" title="JAK-STAT signaling pathway">JAK-STAT</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Type_I_cytokine_receptor" title="Type I cytokine receptor">Type I cytokine receptor</a>: <i><a href="/wiki/Growth_hormone_receptor" title="Growth hormone receptor">GH</a></i> (<a href="/wiki/Laron_syndrome" title="Laron syndrome">Laron syndrome</a>)</li> <li><i><a href="/wiki/Granulocyte_macrophage_colony-stimulating_factor_receptor" class="mw-redirect" title="Granulocyte macrophage colony-stimulating factor receptor">CSF2RA</a></i> (<a href="/wiki/Surfactant_metabolism_dysfunction" title="Surfactant metabolism dysfunction">Surfactant metabolism dysfunction 4</a>)</li></ul> <ul><li><a href="/wiki/Myeloproliferative_leukemia_virus_oncogene" class="mw-redirect" title="Myeloproliferative leukemia virus oncogene">MPL</a> (<a href="/wiki/Congenital_amegakaryocytic_thrombocytopenia" title="Congenital amegakaryocytic thrombocytopenia">Congenital amegakaryocytic thrombocytopenia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Tumor_necrosis_factor_receptor" class="mw-redirect" title="Tumor necrosis factor receptor">TNF receptor</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/TNFRSF1A" class="mw-redirect" title="TNFRSF1A">TNFRSF1A</a></i> (<a href="/wiki/TNF_receptor_associated_periodic_syndrome" title="TNF receptor associated periodic syndrome">TNF receptor associated periodic syndrome</a>)</li> <li><i><a href="/wiki/TNFRSF13B" class="mw-redirect" title="TNFRSF13B">TNFRSF13B</a></i> (<a href="/wiki/Selective_immunoglobulin_A_deficiency" title="Selective immunoglobulin A deficiency">Selective immunoglobulin A deficiency 2</a>)</li> <li><i><a href="/wiki/CD40_(protein)" title="CD40 (protein)">TNFRSF5</a></i> (<a href="/wiki/Hyper-IgM_syndrome_type_3" title="Hyper-IgM syndrome type 3">Hyper-IgM syndrome type 3</a>)</li> <li><i><a href="/wiki/TNFRSF13C" class="mw-redirect" title="TNFRSF13C">TNFRSF13C</a></i> (<a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">CVID4</a>)</li> <li><i><a href="/wiki/TNFRSF13B" class="mw-redirect" title="TNFRSF13B">TNFRSF13B</a></i> (<a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">CVID2</a>)</li> <li><i><a href="/wiki/Fas_receptor" title="Fas receptor">TNFRSF6</a></i> (<a href="/wiki/Autoimmune_lymphoproliferative_syndrome" title="Autoimmune lymphoproliferative syndrome">Autoimmune lymphoproliferative syndrome 1A</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Lipid receptor</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Lipoprotein_receptor-related_protein" title="Lipoprotein receptor-related protein">LRP</a>: <i><a href="/wiki/LRP2" title="LRP2">LRP2</a></i> (<a href="/wiki/Donnai%E2%80%93Barrow_syndrome" title="Donnai–Barrow syndrome">Donnai–Barrow syndrome</a>)</li> <li><i><a href="/wiki/Low_density_lipoprotein_receptor-related_protein_4" class="mw-redirect" title="Low density lipoprotein receptor-related protein 4">LRP4</a></i> (<a href="/wiki/Cenani%E2%80%93Lenz_syndactylism" title="Cenani–Lenz syndactylism">Cenani–Lenz syndactylism</a>)</li> <li><i><a href="/wiki/LRP5" title="LRP5">LRP5</a></i> (<a href="/wiki/Worth_syndrome" title="Worth syndrome">Worth syndrome</a>, <a href="/wiki/Familial_exudative_vitreoretinopathy" title="Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy 4</a>, <a href="/wiki/Osteopetrosis" title="Osteopetrosis">Osteopetrosis 1</a>)</li></ul> <ul><li><i><a href="/wiki/LDL_receptor" title="LDL receptor">LDLR</a></i> (<a href="/wiki/Familial_hypercholesterolemia" title="Familial hypercholesterolemia">LDLR Familial hypercholesterolemia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other/ungrouped</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Immunoglobulin_superfamily" title="Immunoglobulin superfamily">Immunoglobulin superfamily</a>: <a href="/wiki/Hypogammaglobulinemia" title="Hypogammaglobulinemia">AGM3, 6</a></li></ul> <ul><li><a href="/wiki/Integrin" title="Integrin">Integrin</a>: <a href="/wiki/Leukocyte_adhesion_deficiency-1" title="Leukocyte adhesion deficiency-1">LAD1</a></li> <li><a href="/wiki/Glanzmann%27s_thrombasthenia" title="Glanzmann's thrombasthenia">Glanzmann's thrombasthenia</a></li> <li><a href="/wiki/Junctional_epidermolysis_bullosa_with_pyloric_atresia" class="mw-redirect" title="Junctional epidermolysis bullosa with pyloric atresia">Junctional epidermolysis bullosa with pyloric atresia</a></li></ul> <p><i><a href="/wiki/EDAR" class="mw-redirect" title="EDAR">EDAR</a></i> (<a href="/wiki/Hypohidrotic_ectodermal_dysplasia" title="Hypohidrotic ectodermal dysplasia">EDAR hypohidrotic ectodermal dysplasia</a>) </p> <ul><li><i><a href="/wiki/PTCH1" title="PTCH1">PTCH1</a></i> (<a href="/wiki/Nevoid_basal-cell_carcinoma_syndrome" title="Nevoid basal-cell carcinoma syndrome">Nevoid basal-cell carcinoma syndrome</a>)</li> <li><i><a href="/wiki/BMPR1A" title="BMPR1A">BMPR1A</a></i> (<a href="/wiki/Juvenile_polyposis_syndrome" title="Juvenile polyposis syndrome">BMPR1A juvenile polyposis syndrome</a>)</li> <li><i><a href="/wiki/IL2RG" class="mw-redirect" title="IL2RG">IL2RG</a></i> (<a href="/wiki/X-linked_severe_combined_immunodeficiency" title="X-linked severe combined immunodeficiency">X-linked severe combined immunodeficiency</a>)</li></ul> <dl><dt>See also</dt> <dd><a href="/wiki/Template:Cell_surface_receptors" title="Template:Cell surface receptors">cell surface receptors</a></dd></dl> </div></td></tr></tbody></table></div>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" 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