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GENATLAS PHENOTYPE

last update : 25/02/2008

Symbol	ASMD2
Location	10q24.32
HGNC id	749
Name	ocular anterior segment mesenchymal dysgenesis 2
Corresponding gene	PITX3
Other symbol(s)	CCAD, ASMD, ASOD
Main clinical features	clinical findings ranged from an anterior Schwalbe line with mild cataract to severe corneal opacification with moderate cataract, while visual acuity varied from 20/20 to hand motion only
Genetic determination	autosomal dominant
Function/system disorder	eye
Type	disease

Gene product

Name	PITX3, member of the RIEG/PITX homeo box gene family 3

Remark(s)