Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 19-03-2009

Symbol	ARMD7
Location	10q26.13
Name	age-related macular degeneration, 7
Corresponding gene	HTRA1
Other symbol(s)	ARMDH
Main clinical features	loss of central vision as AMD affect the macular region of the eye
Genetic determination
Function/system disorder	eye
Type	susceptibility factor

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
other			variant rs11200638 (HTRA1 promoter, -512 bp)

Remark(s)

AMD has a multifactorial aetiology with both genetic and environmental factors (age and smoking) ; the two 10q26 SNP in HTRA1 and ARMS2 contribute equally to disease risk (Francis,08)