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data-mw-ve-target-container> <div class="vector-body-before-content"> <div class="mw-indicators"> </div> <div id="siteSub" class="noprint">From Wikipedia, the free encyclopedia</div> </div> <div id="contentSub"><div id="mw-content-subtitle"></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Genetic disorder causing excess calcium in blood</div> <div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Medical condition</div><style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) 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">Familial hypocalciuric hypercalcemia</th></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>, <a href="/wiki/Medical_genetics" title="Medical genetics">medical genetics</a></td></tr></tbody></table> <p><b>Familial hypocalciuric hypercalcemia</b> (<b>FHH</b>) is an <a href="/wiki/Genetic_disorder" title="Genetic disorder">inherited condition</a> that can cause <a href="/wiki/Hypercalcemia" class="mw-redirect" title="Hypercalcemia">hypercalcemia</a>, a <a href="/wiki/Serum_calcium" class="mw-redirect" title="Serum calcium">serum calcium</a> level typically above 10.2 mg/dL; although uncommon.<sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> It is also known as <b>familial benign hypocalciuric hypercalcemia</b> (<b>FBHH</b>) where there is usually a family history of hypercalcemia which is mild, a urine <a href="/wiki/Renal_clearance_ratio" title="Renal clearance ratio">calcium to creatinine ratio</a> <0.01, and urine calcium <200 mg/day (<a href="/wiki/Hypocalciuria" title="Hypocalciuria">hypocalciuria</a>). </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Signs_and_symptoms">Signs and symptoms</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypocalciuric_hypercalcemia&action=edit&section=1" title="Edit section: Signs and symptoms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Most cases of familial hypocalciuric hypercalcemia are asymptomatic. Laboratory signs of FHH include:<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. (September 2021)">citation needed</span></a></i>]</sup> </p> <ul><li><a href="/wiki/Hypercalcemia" class="mw-redirect" title="Hypercalcemia">High blood levels of calcium (hypercalcemia)</a></li> <li>A <a href="/wiki/Hypocalciuria" title="Hypocalciuria">low amount of calcium excreted in the urine</a> (Ca excretion rate < 0.02 mmol/L)</li> <li><a href="/wiki/Hypermagnesemia" title="Hypermagnesemia">High blood levels of magnesium (hypermagnesemia)</a></li> <li>High normal to mildly elevated <a href="/wiki/Parathyroid_hormone" title="Parathyroid hormone">parathyroid hormone</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="Causes">Causes</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypocalciuric_hypercalcemia&action=edit&section=2" title="Edit section: Causes"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Types include: </p> <table class="wikitable"> <tbody><tr> <th>Name </th> <th><a href="/wiki/OMIM" class="mw-redirect" title="OMIM">OMIM</a> </th> <th>Locus </th> <th>Gene </th></tr> <tr> <td>HHC1 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/145980">145980</a> </td> <td>3q13.3-q21 </td> <td><a href="/wiki/Calcium-sensing_receptor" title="Calcium-sensing receptor">CaSR</a> </td></tr> <tr> <td>HHC2 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/145981">145981</a> </td> <td>19p13.3 </td> <td>? </td></tr> <tr> <td>HHC3 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/600740">600740</a> </td> <td>19q13<sup id="cite_ref-pmid9915958_2-0" class="reference"><a href="#cite_note-pmid9915958-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </td> <td>? </td></tr></tbody></table> <div class="mw-heading mw-heading2"><h2 id="Pathogenesis">Pathogenesis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypocalciuric_hypercalcemia&action=edit&section=3" title="Edit section: Pathogenesis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Most cases of FHH are associated with loss of function mutations in the <a href="/wiki/Calcium-sensing_receptor" title="Calcium-sensing receptor">calcium-sensing receptor</a> (CaSR) gene,<sup id="cite_ref-urlA_Practical_Approach_to_Hypercalcemia_-_May_1,_2003_-_American_Family_Physician_3-0" class="reference"><a href="#cite_note-urlA_Practical_Approach_to_Hypercalcemia_-_May_1,_2003_-_American_Family_Physician-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> expressed in <a href="/wiki/Parathyroid_gland" title="Parathyroid gland">parathyroid</a> and <a href="/wiki/Kidney" title="Kidney">kidney</a> tissue. These mutations decrease the receptor's sensitivity to calcium, resulting in reduced receptor stimulation at normal serum calcium levels. As a result, inhibition of <a href="/wiki/Parathyroid_hormone" title="Parathyroid hormone">parathyroid hormone</a> release does not occur until higher serum calcium levels are attained, creating a new equilibrium. This is the opposite of what happens with the CaSR sensitizer, <a href="/wiki/Cinacalcet" title="Cinacalcet">cinacalcet</a>. Functionally, parathyroid hormone (PTH) increases calcium resorption from the bone and increases phosphate excretion from the kidney which increases serum calcium and decreases serum phosphate. Individuals with FHH, however, typically have normal PTH levels, as normal calcium homeostasis is maintained, albeit at a higher equilibrium set point. As a consequence, these individuals are not at increased risk of the complications of <a href="/wiki/Hyperparathyroidism" title="Hyperparathyroidism">hyperparathyroidism</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. (September 2021)">citation needed</span></a></i>]</sup> </p><p>Another form has been associated with <a href="/wiki/Chromosome_3" title="Chromosome 3">chromosome 3q</a>.<sup id="cite_ref-pmid1302026_4-0" class="reference"><a href="#cite_note-pmid1302026-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Functions_of_the_calcium-sensing_receptor">Functions of the calcium-sensing receptor</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_hypocalciuric_hypercalcemia&action=edit&section=4" title="Edit section: Functions of the calcium-sensing receptor"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Parathyroid_gland" title="Parathyroid gland">Parathyroid gland</a>: mediates negative feedback mechanisms relating to <a href="/wiki/Parathyroid_hormone" title="Parathyroid hormone">PTH</a> secretion. In normal individuals, PTH secretion decreases with increasing blood calcium levels. Loss of function abnormalities in the CaSR here cause hypercalcemia.</li> <li><a href="/wiki/Kidney" title="Kidney">Kidneys</a>: mediates negative feedback mechanisms relating to <a href="/wiki/Calcium" title="Calcium">calcium</a> reabsorption from the <a href="/wiki/Nephron" title="Nephron">tubular system</a>. In normal individuals, reabsorption of calcium and other electrolytes decreases with increasing blood calcium level. Loss of function abnormalities in the CaSR here contribute to both hypercalcemia and hypocalciuria.</li></ul> <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=Familial_hypocalciuric_hypercalcemia&action=edit&section=5" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>As most cases of FHH are asymptomatic and benign, the diagnosis of FHH is less likely to be made. Typically, diagnosis is made in the pursuit of uncovering the etiology of hypercalcemia. Calcium levels are often in the high normal range or slightly elevated. Commonly, the <a href="/wiki/Parathyroid_hormone" title="Parathyroid hormone">parathyroid hormone</a> level is checked and may be slightly elevated or also on the high normal end. Normally, high calcium should cause low PTH and so this level of PTH is inappropriately high due to the decreased sensitivity of the parathyroid to calcium. This may be mistaken for <a href="/wiki/Primary_hyperparathyroidism" title="Primary hyperparathyroidism">primary hyperparathyroidism</a>. However, evaluation of urine calcium level will reveal a low level of urine calcium. This too is inappropriate as high serum calcium should result in high urine calcium. If urine calcium is not checked, this may lead to parathyroidectomy for presumed primary hyperparathyroidism </p><p>Additionally as the name implies, there may be a family history of benign hypercalcemia.<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. (September 2021)">citation needed</span></a></i>]</sup> </p><p>Ultimately, diagnosis of familial hypocalciuric hypercalcemia is made—as the name implies—by the combination of low urine calcium and high serum calcium. </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=Familial_hypocalciuric_hypercalcemia&action=edit&section=6" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>No treatment is generally required, as <a href="/wiki/Bone_metabolism" class="mw-redirect" title="Bone metabolism">bone demineralisation</a> and <a href="/wiki/Kidney_stone" class="mw-redirect" title="Kidney stone">kidney stones</a> are relatively uncommon in the condition.<sup id="cite_ref-urlA_Familial_Hypouricemic_Hypercalcemia_5-0" class="reference"><a href="#cite_note-urlA_Familial_Hypouricemic_Hypercalcemia-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></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=Familial_hypocalciuric_hypercalcemia&action=edit&section=7" 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-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-1">^</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="CITEREFBletsisMetzgerNelsonGasparini2022" class="citation journal cs1">Bletsis, Panagiotis; Metzger, Rosemarie; Nelson, J. 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Retrieved <span class="nowrap">2009-03-29</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Family+Physician&rft.atitle=A+Practical+Approach+to+Hypercalcemia+-+May+1%2C+2003+-+American+Family+Physician&rft.volume=67&rft.issue=9&rft.pages=1959-1966&rft.date=2003-05&rft.aulast=Schade&rft.aufirst=David+S.&rft.au=Carroll%2C+Mary+F.&rft_id=http%3A%2F%2Fwww.aafp.org%2Fafp%2F20030501%2F1959.html&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFamilial+hypocalciuric+hypercalcemia" class="Z3988"></span></span> </li> <li id="cite_note-pmid1302026-4"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid1302026_4-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFChouBrownLevi1992" class="citation journal cs1">Chou YH, Brown EM, Levi T, et al. (July 1992). 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Genet</i>. <b>1</b> (4): 295–300. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fng0792-295">10.1038/ng0792-295</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/1302026">1302026</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Nat.+Genet.&rft.atitle=The+gene+responsible+for+familial+hypocalciuric+hypercalcemia+maps+to+chromosome+3q+in+four+unrelated+families&rft.volume=1&rft.issue=4&rft.pages=295-300&rft.date=1992-07&rft_id=info%3Adoi%2F10.1038%2Fng0792-295&rft_id=info%3Apmid%2F1302026&rft.aulast=Chou&rft.aufirst=YH&rft.au=Brown%2C+EM&rft.au=Levi%2C+T&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFamilial+hypocalciuric+hypercalcemia" class="Z3988"></span></span> </li> <li id="cite_note-urlA_Familial_Hypouricemic_Hypercalcemia-5"><span class="mw-cite-backlink"><b><a href="#cite_ref-urlA_Familial_Hypouricemic_Hypercalcemia_5-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://web.archive.org/web/20090224032017/http://www.athenadiagnostics.com/content/diagnostic-ed/endocrinology/casr">"Familial Hypouricemic Hypercalcemia"</a>. 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("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table 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/Q1395332" class="extiw" title="d:Q1395332">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#/E83.5">E83.5</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/145980">145980</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/145981">145981</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/600740">600740</a></li><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D006934">D006934</a></li><li><b><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a></b>: <a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb1326.htm">1326</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=405">405</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="Electrolyte_imbalances" 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 abbr{font-variant:small-caps;border-bottom:none;text-decoration:none;cursor:inherit}.mw-parser-output .navbar-ct-full{font-size:114%;margin:0 7em}.mw-parser-output .navbar-ct-mini{font-size:114%;margin:0 4em}html.skin-theme-clientpref-night .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}@media(prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}}@media print{.mw-parser-output .navbar{display:none!important}}</style><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Electrolyte_abnormalities" title="Template:Electrolyte abnormalities"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Electrolyte_abnormalities" title="Template talk:Electrolyte abnormalities"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Electrolyte_abnormalities" title="Special:EditPage/Template:Electrolyte abnormalities"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Electrolyte_imbalances" style="font-size:114%;margin:0 4em"><a href="/wiki/Electrolyte_imbalance" title="Electrolyte imbalance">Electrolyte imbalances</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Calcium_in_biology#Measurement" title="Calcium in biology">Calcium</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><a href="/wiki/Hypercalcaemia" title="Hypercalcaemia">High</a></li> <li><a href="/wiki/Hypocalcaemia" class="mw-redirect" title="Hypocalcaemia">Low</a></li> <li>Symptoms and signs <ul><li><a href="/wiki/Chvostek_sign" title="Chvostek sign">Chvostek sign</a></li> <li><a href="/wiki/Trousseau_sign_of_latent_tetany" title="Trousseau sign of latent tetany">Trousseau sign</a></li></ul></li> <li><a href="/wiki/Milk-alkali_syndrome" title="Milk-alkali syndrome">Milk-alkali syndrome</a></li> <li><a href="/wiki/Disorders_of_calcium_metabolism" title="Disorders of calcium metabolism">Disorders of calcium metabolism</a> <ul><li><a href="/w/index.php?title=Hypercalcemia_of_malignancy&action=edit&redlink=1" class="new" title="Hypercalcemia of malignancy (page does not exist)">Hypercalcemia of malignancy</a></li></ul></li> <li><a href="/wiki/Calcinosis" title="Calcinosis">Calcinosis</a> (<a href="/wiki/Calciphylaxis" title="Calciphylaxis">Calciphylaxis</a>, <a href="/wiki/Calcinosis_cutis" title="Calcinosis cutis">Calcinosis cutis</a>)</li> <li><a href="/wiki/Calcification" title="Calcification">Calcification</a> (<a href="/wiki/Metastatic_calcification" title="Metastatic calcification">Metastatic calcification</a>, <a href="/wiki/Dystrophic_calcification" title="Dystrophic calcification">Dystrophic calcification</a>)</li> <li><a class="mw-selflink selflink">Familial hypocalciuric hypercalcemia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Serum_chloride" title="Serum chloride">Chloride</a></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/Hyperchloremia" title="Hyperchloremia">High</a></li> <li><a href="/wiki/Hypochloremia" title="Hypochloremia">Low</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Magnesium_in_biology" title="Magnesium in biology">Magnesium</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><a href="/wiki/Hypermagnesemia" title="Hypermagnesemia">High</a></li> <li><a href="/wiki/Hypomagnesemia" class="mw-redirect" title="Hypomagnesemia">Low</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Phosphate_metabolism" class="mw-redirect" title="Phosphate metabolism">Phosphate</a></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/Hyperphosphatemia" title="Hyperphosphatemia">High</a></li> <li><a href="/wiki/Hypophosphatemia" title="Hypophosphatemia">Low</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Potassium" title="Potassium">Potassium</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><a href="/wiki/Hyperkalemia" title="Hyperkalemia">High</a> <ul><li><a href="/wiki/Hyperkalemic_periodic_paralysis" title="Hyperkalemic periodic paralysis">Hyperkalemic periodic paralysis</a> <ul><li><a href="/wiki/Hyperkalemic_periodic_paralysis_(equine)" title="Hyperkalemic periodic paralysis (equine)">equine</a></li></ul></li></ul></li> <li><a href="/wiki/Hypokalemia" title="Hypokalemia">Low</a> <ul><li><a href="/wiki/Hypokalemic_periodic_paralysis" title="Hypokalemic periodic paralysis">Hypokalemic periodic paralysis</a></li> <li><a href="/wiki/Hypokalemic_sensory_overstimulation" title="Hypokalemic sensory overstimulation">Hypokalemic sensory overstimulation</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Sodium" title="Sodium">Sodium</a></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/Hypernatremia" title="Hypernatremia">High</a> <ul><li><a href="/wiki/Salt_poisoning" title="Salt poisoning">Salt poisoning</a></li></ul></li> <li><a href="/wiki/Hyponatremia" title="Hyponatremia">Low</a> <ul><li><a href="/wiki/Hypotonic_hyponatremia" title="Hypotonic hyponatremia">Hypotonic</a></li> <li><a href="/wiki/Isotonic_hyponatremia" title="Isotonic hyponatremia">Isotonic</a></li> <li><a href="/wiki/Cerebral_salt-wasting_syndrome" title="Cerebral salt-wasting syndrome">Cerebral salt-wasting syndrome</a></li></ul></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 class="mw-selflink selflink">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 href="/wiki/Rabson%E2%80%93Mendenhall_syndrome" title="Rabson–Mendenhall syndrome">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 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="Congenital_endocrine_disorders" 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"><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:Congenital_endocrine_disorders" title="Template:Congenital endocrine disorders"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Congenital_endocrine_disorders" title="Template talk:Congenital endocrine disorders"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Congenital_endocrine_disorders" title="Special:EditPage/Template:Congenital endocrine disorders"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Congenital_endocrine_disorders" style="font-size:114%;margin:0 4em">Congenital <a href="/wiki/Endocrine_disease" title="Endocrine disease">endocrine disorders</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Pituitary_gland" title="Pituitary gland">Pituitary</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><a href="/wiki/Congenital_hypopituitarism" class="mw-redirect" title="Congenital hypopituitarism">Congenital hypopituitarism</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Thyroid" title="Thyroid">Thyroid</a></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/Thyroid_disease" title="Thyroid disease">Thyroid disease</a></li> <li><a href="/wiki/Persistent_thyroglossal_duct" title="Persistent thyroglossal duct">Persistent thyroglossal duct</a></li> <li><a href="/wiki/Thyroglossal_cyst" title="Thyroglossal cyst">Thyroglossal cyst</a></li> <li><a href="/wiki/Congenital_hypothyroidism" title="Congenital hypothyroidism">Congenital hypothyroidism</a> <ul><li><a href="/wiki/Thyroid_dysgenesis" title="Thyroid dysgenesis">Thyroid dysgenesis</a></li> <li><a href="/wiki/Thyroid_dyshormonogenesis" title="Thyroid dyshormonogenesis">Thyroid dyshormonogenesis</a></li> <li><a href="/wiki/Pendred_syndrome" title="Pendred syndrome">Pendred syndrome</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Parathyroid_gland" title="Parathyroid gland">Parathyroid</a></th><td 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