Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 18/09/2008

Symbol	EHK1
Location	12q13
Name	epidermolytic hyperkeratosis 1
Other name(s)	bullous erythroderma ichthyosiformis congenita of Brocq
Corresponding gene	KRT1
Other symbol(s)	BCIE
Main clinical features	early formation of clumps and perinuclear shells due to an abnormal arrangement of tonofibrils skin lesions before the first birthday and 71p 100 have lesions at birth, with notable perinatal mortality and childhood morbidity from epidermal erosions and infections
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Gene product

Name	keratin 1, type II (KRT1)

Remark(s)