List of genes mutated in cutaneous conditions

A number of gene mutations have been linked to conditions of or affecting the human integumentary system.
List of cutaneous conditionsABCA12Harlequin ichthyosisLamellar ichthyosisPseudoxanthoma elasticumCystic fibrosisFibrodysplasia ossificans progressivaHereditary hemorrhagic telangiectasia type 2Dermatosparaxis variant of Ehlers–Danlos syndromeAGPAT2Berardinelli–Seip syndromeAPECED syndromeFamilial polyposis coliGardner syndromeAtaxia telangiectasiaATP2A2Darier diseaseAcrokeratosis verruciformis of HopfATP2C1Hailey–Hailey diseaseMenkes kinky hair syndromeOccipital horn syndromeCutis laxaWilson's diseaseBirt–Hogg–Dubé syndromeHermansky–Pudlak syndrome type 8Skin melanomaHemochromatosisTrichothiodystrophyCystathionine synthaseHomocystinuriaFamilial melanoma syndromeChédiak–Higashi syndromeWHIM syndromeOsteogenesis imperfectaArthrochalasia type of Ehlers–Danlos syndromeClassic variant of Ehlers–Danlos syndromeCardiac valvular type of Ehlers–Danlos syndromeHypermobility variant of Ehlers–Danlos syndromeVascular variant of Ehlers–Danlos syndromeAlport syndromePilomatricomaOrofaciodigital syndromeBrooke–Spiegler syndromeCylindromaSmith–Lemli–Opitz syndromeHermansky–Pudlak syndrome type 7Dyskeratosis congenitaLipoid proteinosisHypohidrotic ectodermal dysplasiaElastinHereditary hemorrhagic telangiectasia type 1Cockayne syndromeEpidermodysplasia verruciformisFamilial tumoral calcinosisNevus comedonicusBeare–Stevenson cutis gyrata syndromeEpidermal nevusMarfan syndromeCongenital contractural arachnodactylyLymphedema–distichiasis syndromeMeige lymphedemaConnexin 26KID syndromeVohwinkel syndromeBart–Pumphrey syndromeConnexin 31Erythrokeratodermia variabilisConnexin 30.3Connexin 30Clouston syndromeProgressive osseous heteroplasiaPlate-like osteoma cutisAlbright's hereditary osteodystrophyBlue nevusUveal melanomaPort-wine stainSturge-weber syndromeFabry diseaseGLUT-1Infantile hemangiomaPapular atrichiaTuberous sclerosis type 1Hermansky–Pudlak syndrome type 1Hermansky–Pudlak syndrome type 3Hermansky–Pudlak syndrome type 4Hermansky–Pudlak syndrome type 5Hermansky–Pudlak syndrome type 6Spitz nevusKindler syndromeMastocytosisMast cell leukemiaMucosal melanomaPiebaldismEpidermolytic hyperkeratosisIchthyosis hystrix of Curth–MacklinDiffuse nonepidermolytic palmoplantar keratodermaDiffuse epidermolytic palmoplantar keratodermaIchthyosis bullosa of SiemensMeesmann corneal dystrophyWhite sponge nevusEpidermolysis bullosa simplexDowling–Degos' diseaseOlmsted syndromePachyonychia congenita type IPachyonychia congenita type IIIchthyosis with confettiIchthyosis hystrixNaegeli–Franceschetti–Jadassohn syndromeDermatopathia pigmentosa reticularisSteatocystoma multiplexVellus hair cystMonilethrixPure hair–nail type of ectodermal dysplasiaProgeriaKöbberling–Dunnigan syndromeBarraquer–Simons syndromeBuschke–Ollendorff syndromeNail–patella syndromeOculocutaneous albinism type 4Red hair colorNeurofibromatosis type 2Muir–Torre syndromeGriscelli syndromeWaardenburg syndrome type 2Witkop syndromeNeurofibromatosis type 1Blau syndromeEarly-onset sarcoidosisCADASIL syndromeCHILD syndromeOculocutaneous albinism type 2Li–Fraumeni syndromeActinic keratosisSquamous cell carcinomaBeckwith–Wiedemann syndromeHay–Wells syndromeEEC syndromeRapp–Hodgkin syndromeWaardenburg syndrome type 1Waardenburg syndrome type 3Epidermolysis bullosa simplex with muscular dystrophyKyphoscoliosis variant of Ehlers–Danlos syndromeCarney complexPAPA syndromePatchedNevoid basal cell carcinoma syndromeSporadic basal cell carcinomaBannayan–Riley–Ruvalcaba syndromeCowden syndromeLEOPARD syndromeSevere combined immunodeficiencyWerner syndromeBloom syndromeRothmund–Thomson syndromeAlpha-1 antitrypsin deficiency panniculitisAcrodermatitis enteropathicaWaardenburg syndrome type 4Hypotrichosis–lymphedema–telangiectasia syndromeNeurofibromatosis type 1-like syndromePeutz–Jeghers syndromeTransglutaminase 1Nonbullous congenital ichthyosiform erythrodermaTransglutaminase 5Acral peeling skin syndromeTenascin XTuberous sclerosis type 2Oculocutaneous albinism type 1aOculocutaneous albinism type 1bOculocutaneous albinism type 3Milroy diseaseVon Hippel–Lindau diseaseXeroderma pigmentosaXeroderma pigmentosum–Cockayne syndromeRestrictive dermopathyList of radiographic findings associated with cutaneous conditionsList of cutaneous conditions caused by mutations in keratinsList of contact allergensList of histologic stains that aid in diagnosis of cutaneous conditionsList of target antigens in pemphigusList of specialized glands within the human integumentary systemList of cutaneous conditions associated with internal malignancy