List of genes mutated in cutaneous conditions

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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.

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)

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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

## 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

* Bolognia, Jean L. (2007). Dermatology. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
* James, William D. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.

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