LEBER CONGENITAL AMAUROSIS 11; LCA11

Question 1

What is  LEBER CONGENITAL AMAUROSIS 11; LCA11?

Accepted Answer

rare

autosomal dominant

mutation in the IMPDH1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 613837

Question 3

Which enzymes are involved?

Accepted Answer

Inosine-5'-monophosphate dehydrogenase 1

Disease	LEBER CONGENITAL AMAUROSIS 11; LCA11
OMIM	613837 OMIM = Online Mendelian Inheritance of Men
Orphanet	65
Protein (UniProt)	Inosine-5'-monophosphate dehydrogenase 1
ExPASy	1.1.1.205
Gene locus	7q32.1
ICD	H35.5
Summary	rare autosomal dominant mutation in the IMPDH1 gene
Laboratory findings
Symptoms	impaired visual acuity night blindness nystagmus onset, childhood