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
GeneProtein productResulting condition(s)
ABCA12Harlequin ichthyosis
Lamellar ichthyosis
ABCB1P glycoprotein
ABCC6Pseudoxanthoma elasticum
ABCC7CFTR proteinCystic fibrosis
ACVR1Fibrodysplasia ossificans progressiva
ACVRL1 (ALK1)Activin AHereditary hemorrhagic telangiectasia type 2
ADAMT52Procollagen N-peptidaseDermatosparaxis variant of Ehlers–Danlos syndrome
AGPAT2Berardinelli–Seip syndrome
AIREAPECED syndrome
APCFamilial polyposis coli
Gardner syndrome
ATMAtaxia telangiectasia
ATP2A2SERCA2 proteinDarier disease
Acrokeratosis verruciformis of Hopf
ATP2C1Hailey–Hailey disease
ATP7AMenkes kinky hair syndrome
Occipital horn syndrome
Cutis laxa
ATP7BWilson's disease
BHDBirt–Hogg–Dubé syndrome
BLOCK153BLOCK153Hermansky–Pudlak syndrome type 8
BRAFSkin melanoma
BSCL2Berardinelli–Seip syndrome
C282YHemochromatosis
C7orf11Trichothiodystrophy
CBSCystathionine synthaseHomocystinuria
CDKN2AFamilial melanoma syndrome
CHS1 (LYST)Chédiak–Higashi syndrome
CXCR4WHIM syndrome
COL1A1Collagen type 1Osteogenesis imperfecta
Arthrochalasia type of Ehlers–Danlos syndrome
Classic variant of Ehlers–Danlos syndrome
COL1A2Collagen type 1Arthrochalasia type of Ehlers–Danlos syndrome
Cardiac valvular type of Ehlers–Danlos syndrome
COL3A1Collagen type 3Hypermobility variant of Ehlers–Danlos syndrome
Vascular variant of Ehlers–Danlos syndrome
COL4A5Collagen type 4Alport syndrome
COL5A1Collagen type 5Classic variant of Ehlers–Danlos syndrome
COL5A2Collagen type 5Classic variant of Ehlers–Danlos syndrome
CTNNB1Beta-cateninPilomatricoma
CX0RF5Orofaciodigital syndrome
CYLDBrooke–Spiegler syndrome
Cylindroma
DHCR7Smith–Lemli–Opitz syndrome
DTNBP1DysbindinHermansky–Pudlak syndrome type 7
DyskerinDyskeratosis congenita
ECM1Extracellular matrix protein-1Lipoid proteinosis
EDAHypohidrotic ectodermal dysplasia
ElastinCutis laxa
ENGEndoglinHereditary hemorrhagic telangiectasia type 1
ERCC6 (CSB)Cockayne syndrome
ERCC8 (CSA)Cockayne syndrome
EVER1 (TMC6)Epidermodysplasia verruciformis
EVER2 (TCM8)Epidermodysplasia verruciformis
FGF23Familial tumoral calcinosis
FGFR2Nevus comedonicus
Beare–Stevenson cutis gyrata syndrome
FGFR3Epidermal nevus
Fibulin-1Fibulin-1Marfan syndrome
Fibulin-2Fibulin-2Congenital contractural arachnodactyly
Fibulin-4Fibulin-4Cutis laxa
Fibulin-5Fibulin-5Cutis laxa
FOXC2Lymphedema–distichiasis syndrome
Meige lymphedema
GALNT3Familial tumoral calcinosis
GJB2Connexin 26KID syndrome
Vohwinkel syndrome
Bart–Pumphrey syndrome
GJB3Connexin 31Erythrokeratodermia variabilis
GJB4Connexin 30.3Erythrokeratodermia variabilis
GJB6Connexin 30Clouston syndrome (Hidrotic ectodermal dysplasia)
GNAS1Progressive osseous heteroplasia
Plate-like osteoma cutis
Albright's hereditary osteodystrophy
GNAQBlue nevus
Uveal melanoma
Port-wine stain
Sturge-weber syndrome
GTF2H5 (TFBS)Trichothiodystrophy
GLAAlpha-galactosidaseFabry disease
GLUT-1Infantile hemangioma
HairlessPapular atrichia
HamartinTuberous sclerosis type 1
HFEHemochromatosis
HPS1HPS1Hermansky–Pudlak syndrome type 1
HPS3HPS3Hermansky–Pudlak syndrome type 3
HPS4HPS4Hermansky–Pudlak syndrome type 4
HPS5Ru2Hermansky–Pudlak syndrome type 5
HPS6RuHermansky–Pudlak syndrome type 6
HRASSpitz nevus
KIND1Kindlin-1Kindler syndrome
KlothoFamilial tumoral calcinosis
KIT (CD117)Mastocytosis
Mast cell leukemia
Mucosal melanoma
Piebaldism
KRT1Epidermolytic hyperkeratosis
Ichthyosis hystrix of Curth–Macklin
Diffuse nonepidermolytic palmoplantar keratoderma (Unna–Thost keratoderma)
Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma)
KRT2Ichthyosis bullosa of Siemens
KRT3Meesmann corneal dystrophy
KRT4White sponge nevus
KRT5Epidermolysis bullosa simplex
Dowling–Degos' disease
Olmsted syndrome
KRT6APachyonychia congenita type I
KRT6BPachyonychia congenita type II
KRT9Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma)
KRT10Epidermolytic hyperkeratosis
Ichthyosis with confetti
Ichthyosis hystrix
KRT12Meesmann corneal dystrophy
KRT13White sponge nevus
KRT14Epidermolysis bullosa simplex
Naegeli–Franceschetti–Jadassohn syndrome
Dermatopathia pigmentosa reticularis
Olmsted syndrome
KRT16Pachyonychia congenita type I
KRT17Pachyonychia congenita type II
Steatocystoma multiplex
Vellus hair cyst
KRT81Monilethrix
KRT83Monilethrix
KRT85Pure hair–nail type of ectodermal dysplasia
KRT86Monilethrix
LMNALaminin A/CProgeria
Köbberling–Dunnigan syndrome
LMNB1Laminin B1Cutis laxa
LMNB2Laminin B2Barraquer–Simons syndrome
LEMD3Buschke–Ollendorff syndrome
Lewis YInfantile hemangioma
LMX1BNail–patella syndrome
MATPMembrane-associated transporter proteinOculocutaneous albinism type 4
MCR1RRed hair color
Menin (MENI)MEN1A (Wermer syndrome)
MerlinNeurofibromatosis type 2
MerosinInfantile hemangioma
MLH1Muir–Torre syndrome
MLPHGriscelli syndrome
MITFWaardenburg syndrome type 2
MSH2Muir–Torre syndrome
MSX1Witkop syndrome
MYO5AGriscelli syndrome
NF1NeurofibrominNeurofibromatosis type 1
NOD2Blau syndrome, Early-onset sarcoidosis
NOTCH3CADASIL syndrome
NSDHL3-beta-hydroxysteroid dehydrogenaseCHILD syndrome
OCA2 (P)P proteinOculocutaneous albinism type 2
p53Li–Fraumeni syndrome
Actinic keratosis
Squamous cell carcinoma
p57Beckwith–Wiedemann syndrome
p63Hay–Wells syndrome (AEC syndrome)
EEC syndrome
Rapp–Hodgkin syndrome
PAX3Waardenburg syndrome type 1
Waardenburg syndrome type 3
PLECPlectinEpidermolysis bullosa simplex with muscular dystrophy
PLODLysyl hydroxylaseKyphoscoliosis variant of Ehlers–Danlos syndrome
PPARGKöbberling–Dunnigan syndrome
PRKAR1Protein kinase ACarney complex
PSTPIP1CD2 binding protein 1PAPA syndrome
PTCHPatchedNevoid basal cell carcinoma syndrome
Sporadic basal cell carcinoma
PTENBannayan–Riley–Ruvalcaba syndrome
Cowden syndrome
PTPN11LEOPARD syndrome
RAB27AGriscelli syndrome
RAG1Severe combined immunodeficiency
RAG2Severe combined immunodeficiency
RecQL2 (WRN)DNA helicaseWerner syndrome
RecQL3 (BLM)DNA helicaseBloom syndrome
RecQL4DNA helicaseRothmund–Thomson syndrome
RETMEN2A, MEN2B
SAMD9Familial tumoral calcinosis
SERPINA1Alpha 1-antitrypsinAlpha-1 antitrypsin deficiency panniculitis
SLC39A4Acrodermatitis enteropathica
SOX10Waardenburg syndrome type 4
SOX18Hypotrichosis–lymphedema–telangiectasia syndrome
SPREAD1Neurofibromatosis type 1-like syndrome
STK11Peutz–Jeghers syndrome
TERCDyskeratosis congenita
TGM1Transglutaminase 1Lamellar ichthyosis
Nonbullous congenital ichthyosiform erythroderma
TGM5Transglutaminase 5Acral peeling skin syndrome
TNXBTenascin XClassic variant of Ehlers–Danlos syndrome
Hypermobility variant of Ehlers–Danlos syndrome
TuberinTuberous sclerosis type 2
TYRTyrosineOculocutaneous albinism type 1a
Oculocutaneous albinism type 1b
TYRP1Tyrosine-related protein 1Oculocutaneous albinism type 3
FLT4VEGFR-3Milroy disease
VHLVon Hippel–Lindau disease
XPAXeroderma pigmentosa
XPBDNA helicaseXeroderma pigmentosa
Trichothiodystrophy
Xeroderma pigmentosum–Cockayne syndrome
XPCXeroderma pigmentosa
XPDDNA helicaseXeroderma pigmentosa
Trichothiodystrophy
Xeroderma pigmentosum–Cockayne syndrome
XPEXeroderma pigmentosa
XPFDNA endonucleaseXeroderma pigmentosa
XPGDNA endonucleaseXeroderma pigmentosa
Xeroderma pigmentosum–Cockayne syndrome
ZMPSTE24Köbberling–Dunnigan syndrome
Restrictive dermopathy
See also: List of cutaneous conditions
This is a dynamic list and may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries.

See also

References
    • 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.
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