Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 7/07/2006

Symbol	HJMD
Location	16q22.1
Name	hypotrichosis congenital with juvenile macular dystrophy
Other name(s)	juvenile macular dystrophy and congenital hypotrichosis
Corresponding gene	CDH3
Main clinical features	sparse and short scalp hair from birth, followed within a few years by progressive macular degeneration leading to blindness
	homozygous missense mutation resulting in a single amino acid substitution at position 503 of P-cadherin sequence (R503H)
Genetic determination	autosomal recessive
Function/system disorder	eye
	dermatology
Type	disease

Gene product

Name	cadherin 3 (P- cadherin)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
nonsense		truncated protein	mutation (Y615X) predicted to result in premature termination of P-cadherin translation