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src="//upload.wikimedia.org/wikipedia/commons/thumb/0/04/Human_eye_cross_section_detached_retina.svg/220px-Human_eye_cross_section_detached_retina.svg.png" decoding="async" width="220" height="176" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/0/04/Human_eye_cross_section_detached_retina.svg/330px-Human_eye_cross_section_detached_retina.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/0/04/Human_eye_cross_section_detached_retina.svg/440px-Human_eye_cross_section_detached_retina.svg.png 2x" data-file-width="500" data-file-height="400" /></a><figcaption>Diagram of the human eye. The retina is the layer of tissue at the back of the eye that receives light and converts it into a signal which travels along the optic nerve to be processed into visual perception by the brain.</figcaption></figure> <p><b>Familial exudative vitreoretinopathy</b> (FEVR, pronounced as fever) is a <a href="/wiki/Genetic_disorder" title="Genetic disorder">genetic disorder</a> affecting the growth and development of <a href="/wiki/Blood_vessels" class="mw-redirect" title="Blood vessels">blood vessels</a> in the <a href="/wiki/Retina" title="Retina">retina</a> of the eye. This disease can lead to visual impairment and sometimes complete blindness in one or both eyes. FEVR is characterized by incomplete <a href="/wiki/Vascularization" class="mw-redirect" title="Vascularization">vascularization</a> of the peripheral retina. This can lead to the growth of new blood vessels which are prone to <a href="/wiki/Exudative" class="mw-redirect" title="Exudative">leakage</a> and <a href="/wiki/Hemorrhage" class="mw-redirect" title="Hemorrhage">hemorrhage</a> and can cause retinal folds, tears, and detachments. Treatment involves <a href="/wiki/Laser_coagulation" title="Laser coagulation">laser photocoagulation</a> of the avascular portions of the retina to reduce new blood vessel growth and risk of complications including leakage of retinal blood vessels and <a href="/wiki/Retinal_detachment" title="Retinal detachment">retinal detachments</a>.<sup id="cite_ref-:02_1-0" class="reference"><a href="#cite_note-:02-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:12_2-0" class="reference"><a href="#cite_note-:12-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:22_3-0" class="reference"><a href="#cite_note-:22-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:32_4-0" class="reference"><a href="#cite_note-:32-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Information">Information</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_exudative_vitreoretinopathy&action=edit&section=1" title="Edit section: Information"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><b>Pathophysiology</b> </p><p>FEVR is caused by genetic defects involving the regulation of blood vessel growth in developing eyes. As a result, there is poor blood vessel growth to the periphery of the retina. The lack of blood supply to the peripheral retina triggers the release of molecules that stimulate blood vessel growth, such as <a href="/wiki/Vascular_endothelial_growth_factor" title="Vascular endothelial growth factor">vascular endothelial growth factor</a> (VEGF). However, this new blood vessel growth, also known as <a href="/wiki/Neovascularization" title="Neovascularization">neovascularization</a>, can lead to further complications such as the leakage and hemorrhage of retinal blood vessels, retinal tears, and <a href="/wiki/Retinal_detachment" title="Retinal detachment">detachments</a>.<sup id="cite_ref-:02_1-1" class="reference"><a href="#cite_note-:02-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p><p><b>Genetics</b> </p><p>There have been several gene mutations associated with FEVR. These genes code for proteins involved in the <a href="/wiki/Wnt_signaling_pathway" title="Wnt signaling pathway">WNT signaling pathway</a>, which is involved in the development of the human eye and regulation of blood vessel growth.<sup id="cite_ref-:12_2-1" class="reference"><a href="#cite_note-:12-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Depending on the genes involved, FEVR can follow an <a href="/wiki/Dominance_(genetics)" title="Dominance (genetics)">autosomal dominant</a>, <a href="/wiki/Dominance_(genetics)" title="Dominance (genetics)">autosomal recessive</a>, or <a href="/wiki/Sex_linkage" title="Sex linkage">X-linked</a> inheritance pattern. There is varying <a href="/wiki/Penetrance" title="Penetrance">penetrance</a> and <a href="/wiki/Expressivity_(genetics)" title="Expressivity (genetics)">expressivity</a> depending on the genes involved.<sup id="cite_ref-:22_3-1" class="reference"><a href="#cite_note-:22-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> While <a href="/wiki/Genetic_testing" title="Genetic testing">genetic testing</a> may be useful in the diagnosis of FEVR, a negative genetic test does not rule out the disease.<sup id="cite_ref-:02_1-2" class="reference"><a href="#cite_note-:02-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p><p><b>Diagnosis</b> </p> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Human_eye_cross-sectional_view_grayscale.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/e/ed/Human_eye_cross-sectional_view_grayscale.png/220px-Human_eye_cross-sectional_view_grayscale.png" decoding="async" width="220" height="157" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/e/ed/Human_eye_cross-sectional_view_grayscale.png/330px-Human_eye_cross-sectional_view_grayscale.png 1.5x, //upload.wikimedia.org/wikipedia/commons/e/ed/Human_eye_cross-sectional_view_grayscale.png 2x" data-file-width="350" data-file-height="250" /></a><figcaption>Familial exudative vitreoretinopathy involves the improper growth and development of the blood vessels in the retina.</figcaption></figure> <p>Diagnosis of FEVR is often made through <a href="/wiki/Ophthalmoscopy" title="Ophthalmoscopy">direct visualization</a> of the retina and <a href="/wiki/Fluorescein_angiography" title="Fluorescein angiography">fluorescein angiography</a>, along with personal and family medical history. Hallmark characteristics of FEVR include lack of blood vessels in the peripheral retina. Other findings may include vessel and macular dragging, sub-retinal exudates, neovascularization, retinal folds, and retinal detachments.<sup id="cite_ref-:02_1-3" class="reference"><a href="#cite_note-:02-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> FEVR must be differentiated from other diseases involving incomplete vascularization of the retina including <a href="/wiki/Retinopathy_of_prematurity" title="Retinopathy of prematurity">retinopathy of prematurity</a> (ROP), <a href="/wiki/Norrie_disease" title="Norrie disease">Norrie disease</a>, <a href="/wiki/Coats%27_disease" title="Coats' disease">Coat's disease</a>, and others.<sup id="cite_ref-:02_1-4" class="reference"><a href="#cite_note-:02-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:12_2-2" class="reference"><a href="#cite_note-:12-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Severity of disease is highly variable and can range from mild visual impairment to complete vision loss. Based on the severity of the disease, FEVR is diagnosed based on a clinical staging scale from 1 to 5.<sup id="cite_ref-:32_4-1" class="reference"><a href="#cite_note-:32-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> Since FEVR often runs in families, immediate relatives of someone diagnosed with FEVR should be examined by an ophthalmologist because the disease can have no symptoms before complications arise including retinal detachments.<sup id="cite_ref-:02_1-5" class="reference"><a href="#cite_note-:02-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p><p><b>Treatment</b> </p><p>Treatment is largely aimed at reducing the amount of new blood vessel growth and preventing complications that may arise as a result, including retinal tears and detachments. Using a laser, an ophthalmologist burns the portions of the retina that are not supported by blood vessels, a technique known as <a href="/wiki/Laser_coagulation" title="Laser coagulation">laser photocoagulation</a>.<sup id="cite_ref-:02_1-6" class="reference"><a href="#cite_note-:02-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> By doing so, this tissue will no longer release molecules that stimulate blood vessel growth. If a retinal detachment occurs, laser therapy or <a href="/wiki/Retinal_detachment" title="Retinal detachment">surgery</a> may be required to repair the retina.<sup id="cite_ref-:02_1-7" class="reference"><a href="#cite_note-:02-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:12_2-3" class="reference"><a href="#cite_note-:12-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Photocoagulation.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/5/53/Photocoagulation.png/220px-Photocoagulation.png" decoding="async" width="220" height="165" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/5/53/Photocoagulation.png/330px-Photocoagulation.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/5/53/Photocoagulation.png/440px-Photocoagulation.png 2x" data-file-width="1024" data-file-height="768" /></a><figcaption>Laser photocoagulation involves using a laser to cauterize the portions of retina which are not supplied by blood vessels.</figcaption></figure> <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_exudative_vitreoretinopathy&action=edit&section=2" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-references-wrap"><ol class="references"> <li id="cite_note-:02-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-:02_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:02_1-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-:02_1-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-:02_1-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-:02_1-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-:02_1-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-:02_1-6"><sup><i><b>g</b></i></sup></a> <a href="#cite_ref-:02_1-7"><sup><i><b>h</b></i></sup></a></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 class="citation web cs1"><a rel="nofollow" class="external text" href="https://eyewiki.aao.org/Familial_Exudative_Vitreoretinopathy_(FEVR)">"Familial Exudative Vitreoretinopathy (FEVR) - EyeWiki"</a>. <i>eyewiki.aao.org</i><span class="reference-accessdate">. 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href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFGilmour2015" class="citation journal cs1">Gilmour, D F (January 2015). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289842">"Familial exudative vitreoretinopathy and related retinopathies"</a>. <i>Eye</i>. <b>29</b> (1): 1–14. <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%2Feye.2014.70">10.1038/eye.2014.70</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/0950-222X">0950-222X</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/PMC4289842">4289842</a></span>. <a 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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/Q5432936" class="extiw" title="d:Q5432936">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>: H35.0</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/133780">133780</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=C580083">C580083</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=891">891</a></li></ul></div></div></td></tr></tbody></table></div> <ul><li><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1147/">GeneReviews/NCBI/NIH/UW entry on Familial Exudative Vitreoretinopathy, Autosomal Dominant</a></li> <li><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=vitreoretinopathy/">NCBI Genetic Testing Registry</a></li></ul> <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_malformations_and_deformations_of_eyes" 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:Congenital_malformations_and_deformations_of_eye" title="Template:Congenital malformations and deformations of eye"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Congenital_malformations_and_deformations_of_eye" title="Template talk:Congenital malformations and deformations of eye"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Congenital_malformations_and_deformations_of_eye" title="Special:EditPage/Template:Congenital malformations and deformations of eye"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Congenital_malformations_and_deformations_of_eyes" style="font-size:114%;margin:0 4em"><a href="/wiki/Congenital_disorder" class="mw-redirect" title="Congenital disorder">Congenital</a> malformations and deformations of <a href="/wiki/Eye_disease" title="Eye disease">eyes</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Accessory_visual_structures" title="Accessory visual structures">Adnexa</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" 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/Eyelid" title="Eyelid">Eyelid</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><a href="/wiki/Ptosis_(eyelid)" title="Ptosis (eyelid)">Ptosis</a></li> <li><a href="/wiki/Ectropion" title="Ectropion">Ectropion</a></li> <li><a href="/wiki/Entropion" title="Entropion">Entropion</a></li> <li><a href="/wiki/Distichia" title="Distichia">Distichia</a></li> <li><a href="/wiki/Blepharophimosis" title="Blepharophimosis">Blepharophimosis</a></li> <li><a href="/wiki/Ablepharon_macrostomia_syndrome" title="Ablepharon macrostomia syndrome">Ablepharon</a></li> <li><a href="/wiki/Marcus_Gunn_phenomenon" title="Marcus Gunn phenomenon">Marcus Gunn phenomenon</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Lacrimal_apparatus" title="Lacrimal apparatus">Lacrimal apparatus</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/Nasolacrimal_duct_obstruction#Congenital" title="Nasolacrimal duct obstruction">Congenital lacrimal duct obstruction</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/Globe_(human_eye)" title="Globe (human eye)">Globe</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" 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%">Entire eye</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/Anophthalmia" title="Anophthalmia">Anophthalmia</a> (<a href="/wiki/Cystic_eyeball" title="Cystic eyeball">Cystic eyeball</a>, <a href="/wiki/Cryptophthalmos" title="Cryptophthalmos">Cryptophthalmos</a>)</li> <li><a href="/wiki/Microphthalmia" title="Microphthalmia">Microphthalmia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Lens_(anatomy)" class="mw-redirect" title="Lens (anatomy)">Lens</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/Ectopia_lentis" title="Ectopia lentis">Ectopia lentis</a></li> <li><a href="/wiki/Aphakia" title="Aphakia">Aphakia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Iris_(anatomy)" title="Iris (anatomy)">Iris</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><a href="/wiki/Aniridia" title="Aniridia">Aniridia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Anterior_segment_of_eyeball" title="Anterior segment of eyeball">Anterior segment</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/Axenfeld%E2%80%93Rieger_syndrome" title="Axenfeld–Rieger syndrome">Axenfeld–Rieger syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Cornea" title="Cornea">Cornea</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><a href="/wiki/Keratoglobus" title="Keratoglobus">Keratoglobus</a></li> <li><a href="/wiki/Megalocornea" title="Megalocornea">Megalocornea</a></li> <li><a href="/wiki/Cornea_plana_1" title="Cornea plana 1">Cornea plana 1</a></li> <li><a href="/wiki/Cornea_plana_2" title="Cornea plana 2">Cornea plana 2</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Retina" title="Retina">Retina</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/Megalopapilla" title="Megalopapilla">Megalopapilla</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</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/Buphthalmos" title="Buphthalmos">Buphthalmos</a></li> <li><a href="/wiki/Coloboma" title="Coloboma">Coloboma</a> (<a href="/wiki/Coloboma_of_optic_nerve" title="Coloboma of optic nerve">Coloboma of optic nerve</a>)</li> <li><a href="/wiki/Primary_juvenile_glaucoma" title="Primary juvenile glaucoma">Hydrophthalmos</a></li> <li><a href="/wiki/Norrie_disease" title="Norrie disease">Norrie disease</a></li></ul> </div></td></tr></tbody></table><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="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 class="mw-selflink selflink">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 class="mw-selflink selflink">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="Cell_membrane_protein_disorders_(other_than_Cell_surface_receptor,_enzymes,_and_cytoskeleton)" 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:Other_cell_membrane_protein_disorders" title="Template:Other cell membrane protein disorders"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Other_cell_membrane_protein_disorders" title="Template talk:Other cell membrane protein disorders"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Other_cell_membrane_protein_disorders" title="Special:EditPage/Template:Other cell membrane protein disorders"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Cell_membrane_protein_disorders_(other_than_Cell_surface_receptor,_enzymes,_and_cytoskeleton)" style="font-size:114%;margin:0 4em"><a href="/wiki/Cell_membrane" title="Cell membrane">Cell membrane</a> protein disorders (other than <a href="/wiki/Cell_surface_receptor" title="Cell surface receptor">Cell surface receptor</a>, <a href="/wiki/Enzyme" title="Enzyme">enzymes</a>, and <a href="/wiki/Cytoskeleton" title="Cytoskeleton">cytoskeleton</a>)</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Arrestin" title="Arrestin">Arrestin</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/Oguchi_disease" title="Oguchi disease">Oguchi disease 1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Myelin" title="Myelin">Myelin</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/Pelizaeus%E2%80%93Merzbacher_disease" title="Pelizaeus–Merzbacher disease">Pelizaeus–Merzbacher disease</a></li> <li><a href="/wiki/Dejerine%E2%80%93Sottas_disease" title="Dejerine–Sottas disease">Dejerine–Sottas disease</a></li> <li><a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease" title="Charcot–Marie–Tooth disease">Charcot–Marie–Tooth disease 1B, 2J</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Pulmonary_surfactant" title="Pulmonary surfactant">Pulmonary surfactant</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/Surfactant_metabolism_dysfunction" title="Surfactant metabolism dysfunction">Surfactant metabolism dysfunction 1, 2</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Cell_adhesion_molecule" title="Cell adhesion molecule">Cell adhesion molecule</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th id="IgSF_CAM:" scope="row" class="navbox-group" style="width:1%"><span class="nobold"><a href="/wiki/IgSF_CAM" title="IgSF CAM">IgSF CAM</a>:</span></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/Cleft_lip_and_palate" class="mw-redirect" title="Cleft lip and palate">OFC7</a></li></ul> </div></td></tr><tr><td colspan="2" class="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 id="Cadherin:" scope="row" class="navbox-group" style="width:1%"><span class="nobold"><a href="/wiki/Cadherin" title="Cadherin">Cadherin</a>:</span></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/Desmoglein-1" title="Desmoglein-1">DSG1</a></i> <ul><li><a href="/wiki/Palmoplantar_keratoderma" title="Palmoplantar keratoderma">Striate palmoplantar keratoderma 1</a></li></ul></li></ul> </div></td></tr><tr><td colspan="2" class="navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Desmoglein-2" title="Desmoglein-2">DSG2</a></i> <ul><li><a href="/wiki/Arrhythmogenic_right_ventricular_dysplasia" class="mw-redirect" title="Arrhythmogenic right ventricular dysplasia">Arrhythmogenic right ventricular dysplasia 10</a></li></ul></li> <li><i><a href="/wiki/Desmoglein-4" title="Desmoglein-4">DSG4</a></i> <ul><li><a href="/wiki/Hypotrichosis" class="mw-redirect" title="Hypotrichosis">LAH1</a></li></ul></li> <li><i><a href="/wiki/DSC2" title="DSC2">DSC2</a></i> <ul><li><a href="/wiki/Arrhythmogenic_right_ventricular_dysplasia" class="mw-redirect" title="Arrhythmogenic right ventricular dysplasia">Arrhythmogenic right ventricular dysplasia 11</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Integrin" title="Integrin">Integrin</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><a href="/wiki/Template:Cell_surface_receptor_deficiencies" title="Template:Cell surface receptor deficiencies">cell surface receptor deficiencies</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/Tetraspanin" title="Tetraspanin">Tetraspanin</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><i><a href="/wiki/TSPAN7" title="TSPAN7">TSPAN7</a></i> <ul><li><a href="/wiki/X-linked_intellectual_disability" title="X-linked intellectual disability">X-Linked mental retardation 58</a></li></ul></li> <li><i><a href="/wiki/TSPAN12" title="TSPAN12">TSPAN12</a></i> <ul><li><a class="mw-selflink selflink">Familial exudative vitreoretinopathy 5</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</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><i><a href="/wiki/C20orf42" class="mw-redirect" title="C20orf42">KIND1</a></i> <ul><li><a href="/wiki/Kindler_syndrome" title="Kindler syndrome">Kindler syndrome</a></li></ul></li> <li><i><a href="/wiki/HFE_(gene)" title="HFE (gene)">HFE</a></i> <ul><li><a href="/wiki/HFE_hereditary_haemochromatosis" class="mw-redirect" title="HFE hereditary haemochromatosis">HFE hereditary haemochromatosis</a></li></ul></li> <li><i><a href="/wiki/Dysferlin" title="Dysferlin">DYSF</a></i> <ul><li><a href="/wiki/Distal_muscular_dystrophy" class="mw-redirect" title="Distal muscular dystrophy">Distal muscular dystrophy</a></li> <li><a href="/wiki/Limb-girdle_muscular_dystrophy" class="mw-redirect" title="Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy 2B</a></li></ul></li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>See also <a href="/wiki/Template:Other_cell_membrane_proteins" title="Template:Other cell membrane proteins">other cell membrane proteins</a></i></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" href="https://en.wikipedia.org/w/index.php?title=Familial_exudative_vitreoretinopathy&oldid=1182159463">https://en.wikipedia.org/w/index.php?title=Familial_exudative_vitreoretinopathy&oldid=1182159463</a>"</div></div> <div id="catlinks" class="catlinks" data-mw="interface"><div id="mw-normal-catlinks" class="mw-normal-catlinks"><a href="/wiki/Help:Category" title="Help:Category">Categories</a>: <ul><li><a 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