Global InformationList of genes mutated in cutaneous conditions information
A number of gene mutations have been linked to conditions of or affecting the human integumentary system.
| Gene | Protein product | Resulting condition(s) |
|---|---|---|
| ABCA12 | Harlequin ichthyosis Lamellar 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 coli Gardner syndrome | |
| ATM | Ataxia telangiectasia | |
| ATP2A2 | SERCA2 protein | Darier disease Acrokeratosis verruciformis of Hopf |
| ATP2C1 | Hailey–Hailey disease | |
| ATP7A | Menkes kinky hair syndrome Occipital horn syndrome Cutis 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 imperfecta Arthrochalasia type of Ehlers–Danlos syndrome Classic variant of Ehlers–Danlos syndrome |
| COL1A2 | Collagen type 1 | Arthrochalasia type of Ehlers–Danlos syndrome Cardiac valvular type of Ehlers–Danlos syndrome |
| COL3A1 | Collagen type 3 | Hypermobility variant of Ehlers–Danlos syndrome Vascular 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 syndrome Cylindroma | |
| 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 comedonicus Beare–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 syndrome Meige lymphedema | |
| GALNT3 | Familial tumoral calcinosis | |
| GJB2 | Connexin 26 | KID syndrome Vohwinkel syndrome Bart–Pumphrey syndrome |
| GJB3 | Connexin 31 | Erythrokeratodermia variabilis |
| GJB4 | Connexin 30.3 | Erythrokeratodermia variabilis |
| GJB6 | Connexin 30 | Clouston syndrome (Hidrotic ectodermal dysplasia) |
| GNAS1 | Progressive osseous heteroplasia Plate-like osteoma cutis Albright's hereditary osteodystrophy | |
| GNAQ | Blue nevus Uveal melanoma Port-wine stain Sturge-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) | Mastocytosis Mast cell leukemia Mucosal melanoma Piebaldism | |
| KRT1 | Epidermolytic hyperkeratosis Ichthyosis hystrix of Curth–Macklin Diffuse 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 simplex Dowling–Degos' disease Olmsted syndrome | |
| KRT6A | Pachyonychia congenita type I | |
| KRT6B | Pachyonychia congenita type II | |
| KRT9 | Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma) | |
| KRT10 | Epidermolytic hyperkeratosis Ichthyosis with confetti Ichthyosis hystrix | |
| KRT12 | Meesmann corneal dystrophy | |
| KRT13 | White sponge nevus | |
| KRT14 | Epidermolysis bullosa simplex Naegeli–Franceschetti–Jadassohn syndrome Dermatopathia pigmentosa reticularis Olmsted syndrome | |
| KRT16 | Pachyonychia congenita type I | |
| KRT17 | Pachyonychia congenita type II Steatocystoma multiplex Vellus hair cyst | |
| KRT81 | Monilethrix | |
| KRT83 | Monilethrix | |
| KRT85 | Pure hair–nail type of ectodermal dysplasia | |
| KRT86 | Monilethrix | |
| LMNA | Laminin A/C | Progeria Köbberling–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 syndrome Actinic keratosis Squamous cell carcinoma | |
| p57 | Beckwith–Wiedemann syndrome | |
| p63 | Hay–Wells syndrome (AEC syndrome) EEC syndrome Rapp–Hodgkin syndrome | |
| PAX3 | Waardenburg syndrome type 1 Waardenburg 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 syndrome Sporadic basal cell carcinoma |
| PTEN | Bannayan–Riley–Ruvalcaba syndrome Cowden 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 ichthyosis Nonbullous congenital ichthyosiform erythroderma |
| TGM5 | Transglutaminase 5 | Acral peeling skin syndrome |
| TNXB | Tenascin X | Classic variant of Ehlers–Danlos syndrome Hypermobility variant of Ehlers–Danlos syndrome |
| Tuberin | Tuberous sclerosis type 2 | |
| TYR | Tyrosine | Oculocutaneous albinism type 1a Oculocutaneous albinism type 1b |
| TYRP1 | Tyrosine-related protein 1 | Oculocutaneous albinism type 3 |
| FLT4 | VEGFR-3 | Milroy disease |
| VHL | Von Hippel–Lindau disease | |
| XPA | Xeroderma pigmentosa | |
| XPB | DNA helicase | Xeroderma pigmentosa Trichothiodystrophy Xeroderma pigmentosum–Cockayne syndrome |
| XPC | Xeroderma pigmentosa | |
| XPD | DNA helicase | Xeroderma pigmentosa Trichothiodystrophy Xeroderma pigmentosum–Cockayne syndrome |
| XPE | Xeroderma pigmentosa | |
| XPF | DNA endonuclease | Xeroderma pigmentosa |
| XPG | DNA endonuclease | Xeroderma pigmentosa Xeroderma pigmentosum–Cockayne syndrome |
| ZMPSTE24 | Köbberling–Dunnigan syndrome Restrictive dermopathy |