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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 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

References

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

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List of genes mutated in cutaneous conditions

See also

References

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