Biology: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.
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 |
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.
![]() | Original source: https://en.wikipedia.org/wiki/List of genes mutated in cutaneous conditions.
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