List of genes mutated in cutaneous conditions

A number of gene mutations have been linked to conditions of or affecting the human integumentary system.

+ Genes mutated in cutaneous conditions Gene Protein product Resulting condition(s) ABCA12 Harlequin ichthyosisLamellar ichthyosis ABCB1 P glycoprotein ABCC6 Pseudoxanthoma elasticum ABCC7 CFTR protein Cystic fibrosis ACVR1 Fibrodysplasia ossificans progressiva ACVRL1 (ALK1) Activin A Hereditary hemorrhagic telangiectasia type 2 ADAMT52 Procollagen N-peptidase Dermatosparaxis variant of Ehlers–Danlos syndrome AGPAT2 Berardinelli–Seip syndrome AIRE APECED syndrome APC Familial polyposis coliGardner syndrome ATM Ataxia telangiectasia ATP2A2 SERCA2 protein Darier diseaseAcrokeratosis verruciformis of Hopf ATP2C1 Hailey–Hailey disease ATP7A Menkes kinky hair syndromeOccipital horn syndromeCutis laxa ATP7B Wilson's disease BHD Birt–Hogg–Dubé syndrome BLOCK153 BLOCK153 Hermansky–Pudlak syndrome type 8 BRAF Skin melanoma BSCL2 Berardinelli–Seip syndrome C282Y Hemochromatosis C7orf11 Trichothiodystrophy CBS Cystathionine synthase Homocystinuria CDKN2A Familial melanoma syndrome CHS1 (LYST) Chédiak–Higashi syndrome CXCR4 WHIM syndrome COL1A1 Collagen type 1 Osteogenesis imperfectaArthrochalasia type of Ehlers–Danlos syndromeClassic variant of Ehlers–Danlos syndrome COL1A2 Collagen type 1 Arthrochalasia type of Ehlers–Danlos syndromeCardiac valvular type of Ehlers–Danlos syndrome COL3A1 Collagen type 3 Hypermobility variant of Ehlers–Danlos syndromeVascular variant of Ehlers–Danlos syndrome COL4A5 Collagen type 4 Alport syndrome COL5A1 Collagen type 5 Classic variant of Ehlers–Danlos syndrome COL5A2 Collagen type 5 Classic variant of Ehlers–Danlos syndrome CTNNB1 Beta-catenin Pilomatricoma CX0RF5 Orofaciodigital syndrome CYLD Brooke–Spiegler syndromeCylindroma DHCR7 Smith–Lemli–Opitz syndrome DTNBP1 Dysbindin Hermansky–Pudlak syndrome type 7 Dyskerin Dyskeratosis congenita ECM1 Extracellular matrix protein-1 Lipoid proteinosis EDA Hypohidrotic ectodermal dysplasia Elastin Cutis laxa ENG Endoglin Hereditary hemorrhagic telangiectasia type 1 ERCC6 (CSB) Cockayne syndrome ERCC8 (CSA) Cockayne syndrome EVER1 (TMC6) Epidermodysplasia verruciformis EVER2 (TCM8) Epidermodysplasia verruciformis FGF23 Familial tumoral calcinosis FGFR2 Nevus comedonicusBeare–Stevenson cutis gyrata syndrome FGFR3 Epidermal nevus Fibulin-1 Fibulin-1 Marfan syndrome Fibulin-2 Fibulin-2 Congenital contractural arachnodactyly Fibulin-4 Fibulin-4 Cutis laxa Fibulin-5 Fibulin-5 Cutis laxa FOXC2 Lymphedema–distichiasis syndromeMeige lymphedema GALNT3 Familial tumoral calcinosis GJB2 Connexin 26 KID syndromeVohwinkel syndromeBart–Pumphrey syndrome GJB3 Connexin 31 Erythrokeratodermia variabilis GJB4 Connexin 30.3 Erythrokeratodermia variabilis GJB6 Connexin 30 Clouston syndrome (Hidrotic ectodermal dysplasia) GNAS1 Progressive osseous heteroplasiaPlate-like osteoma cutisAlbright's hereditary osteodystrophy GNAQ Blue nevusUveal melanomaPort-wine stainSturge-weber syndrome GTF2H5 (TFBS) Trichothiodystrophy GLA Alpha-galactosidase Fabry disease GLUT-1 Infantile hemangioma Hairless Papular atrichia Hamartin Tuberous sclerosis type 1 HFE Hemochromatosis HPS1 HPS1 Hermansky–Pudlak syndrome type 1 HPS3 HPS3 Hermansky–Pudlak syndrome type 3 HPS4 HPS4 Hermansky–Pudlak syndrome type 4 HPS5 Ru2 Hermansky–Pudlak syndrome type 5 HPS6 Ru Hermansky–Pudlak syndrome type 6 HRAS Spitz nevus KIND1 Kindlin-1 Kindler syndrome Klotho Familial tumoral calcinosis KIT (CD117) MastocytosisMast cell leukemiaMucosal melanomaPiebaldism KRT1 Epidermolytic hyperkeratosisIchthyosis hystrix of Curth–MacklinDiffuse nonepidermolytic palmoplantar keratoderma (Unna–Thost keratoderma)Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma) KRT2 Ichthyosis bullosa of Siemens KRT3 Meesmann corneal dystrophy KRT4 White sponge nevus KRT5 Epidermolysis bullosa simplexDowling–Degos' diseaseOlmsted syndrome KRT6A Pachyonychia congenita type I KRT6B Pachyonychia congenita type II KRT9 Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma) KRT10 Epidermolytic hyperkeratosisIchthyosis with confettiIchthyosis hystrix KRT12 Meesmann corneal dystrophy KRT13 White sponge nevus KRT14 Epidermolysis bullosa simplexNaegeli–Franceschetti–Jadassohn syndromeDermatopathia pigmentosa reticularisOlmsted syndrome KRT16 Pachyonychia congenita type I KRT17 Pachyonychia congenita type IISteatocystoma multiplexVellus hair cyst KRT81 Monilethrix KRT83 Monilethrix KRT85 Pure hair–nail type of ectodermal dysplasia KRT86 Monilethrix LMNA Laminin A/C ProgeriaKöbberling–Dunnigan syndrome LMNB1 Laminin B1 Cutis laxa LMNB2 Laminin B2 Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Lewis Y Infantile hemangioma LMX1B Nail–patella syndrome MATP Membrane-associated transporter protein Oculocutaneous albinism type 4 MCR1R Red hair color Menin (MENI) MEN1A (Wermer syndrome) Merlin Neurofibromatosis type 2 Merosin Infantile hemangioma MLH1 Muir–Torre syndrome MLPH Griscelli syndrome MITF Waardenburg syndrome type 2 MSH2 Muir–Torre syndrome MSX1 Witkop syndrome MYO5A Griscelli syndrome NF1 Neurofibromin Neurofibromatosis type 1 NOD2 Blau syndrome, Early-onset sarcoidosis NOTCH3 CADASIL syndrome NSDHL 3-beta-hydroxysteroid dehydrogenase CHILD syndrome OCA2 (P) P protein Oculocutaneous albinism type 2 p53 Li–Fraumeni syndromeActinic keratosisSquamous cell carcinoma p57 Beckwith–Wiedemann syndrome p63 Hay–Wells syndrome (AEC syndrome)EEC syndromeRapp–Hodgkin syndrome PAX3 Waardenburg syndrome type 1Waardenburg syndrome type 3 PLEC Plectin Epidermolysis bullosa simplex with muscular dystrophy PLOD Lysyl hydroxylase Kyphoscoliosis variant of Ehlers–Danlos syndrome PPARG Köbberling–Dunnigan syndrome PRKAR1 Protein kinase A Carney complex PSTPIP1 CD2 binding protein 1 PAPA syndrome PTCH Patched Nevoid basal cell carcinoma syndromeSporadic basal cell carcinoma PTEN Bannayan–Riley–Ruvalcaba syndromeCowden syndrome PTPN11 LEOPARD syndrome RAB27A Griscelli syndrome RAG1 Severe combined immunodeficiency RAG2 Severe combined immunodeficiency RecQL2 (WRN) DNA helicase Werner syndrome RecQL3 (BLM) DNA helicase Bloom syndrome RecQL4 DNA helicase Rothmund–Thomson syndrome RET MEN2A, MEN2B SAMD9 Familial tumoral calcinosis SERPINA1 Alpha 1-antitrypsin Alpha-1 antitrypsin deficiency panniculitis SLC39A4 Acrodermatitis enteropathica SOX10 Waardenburg syndrome type 4 SOX18 Hypotrichosis–lymphedema–telangiectasia syndrome SPREAD1 Neurofibromatosis type 1-like syndrome STK11 Peutz–Jeghers syndrome TERC Dyskeratosis congenita TGM1 Transglutaminase 1 Lamellar ichthyosisNonbullous congenital ichthyosiform erythroderma TGM5 Transglutaminase 5 Acral peeling skin syndrome TNXB Tenascin X Classic variant of Ehlers–Danlos syndromeHypermobility variant of Ehlers–Danlos syndrome Tuberin Tuberous sclerosis type 2 TYR Tyrosine Oculocutaneous albinism type 1aOculocutaneous albinism type 1b TYRP1 Tyrosine-related protein 1 Oculocutaneous albinism type 3FLT4 VEGFR-3 Milroy disease VHL Von Hippel–Lindau disease XPA Xeroderma pigmentosa XPB DNA helicase Xeroderma pigmentosaTrichothiodystrophyXeroderma pigmentosum–Cockayne syndrome XPC Xeroderma pigmentosa XPD DNA helicase Xeroderma pigmentosaTrichothiodystrophyXeroderma pigmentosum–Cockayne syndrome XPE Xeroderma pigmentosa XPF DNA endonuclease Xeroderma pigmentosa XPG DNA endonuclease Xeroderma pigmentosaXeroderma pigmentosum–Cockayne syndrome ZMPSTE24 Köbberling–Dunnigan syndromeRestrictive dermopathy

See also List of radiographic findings associated with cutaneous conditions List of cutaneous conditions caused by mutations in keratins List of contact allergens List of histologic stains that aid in diagnosis of cutaneous conditions List of target antigens in pemphigus List of specialized glands within the human integumentary system List of cutaneous conditions associated with internal malignancy

References