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GENATLAS PHENOTYPE

last update : 03-12-2015

Symbol	FPH2
Location	12q21.32
Name	familial progressive hyperpigmentation 2
Other name(s)	familial progressive hyperpigmentation with or without hypopigmentation
Corresponding gene	KITLG
Other symbol(s)	FPHH
Main clinical features	hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules, involving the face, neck, trunk, and limbs, are seen at birth or develop early in infancy
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Remark(s)

caused by the KITLG N36S mutation, which has a gain-of-function effect on the melanin synthesis (Wang 2009)