List of genes mutated in cutaneous conditions

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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 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
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
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
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
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
Xeroderma pigmentosum–Cockayne syndrome
XPC Xeroderma pigmentosa
XPD DNA helicase Xeroderma pigmentosa
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

See also[edit]


  • Bolognia, Jean L.; et al. (2007). Dermatology. St. Louis: Mosby. ISBN 1-4160-2999-0.
  • James, William D.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.