Details of Disease | DrugMAP

General Information of Disease (ID: DISGR7I0)

Disease Name	Cataract 38
Synonyms	cataract, autosomal recessive congenital 5; CTRCT38; cataract type 38; cataract 38; autosomal recessive congenital cataract 5; CATC5; AGK early-onset non-syndromic cataract; early-onset non-syndromic cataract caused by mutation in AGK; cataract 38, autosomal recessive
Definition	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene.
Disease Hierarchy	DIS4VPS0: Early-onset non-syndromic cataract DISGR7I0: Cataract 38
Disease Identifiers	MONDO ID MONDO_0013859 UMLS CUI C3553494 OMIM ID 614691 MedGen ID 766408

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AGK	TTJETQC	Limited	Autosomal recessive	[1]
AGK	TTJETQC	Strong	Biomarker	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AGK	OTJGWBYT	Limited	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat. 2012 Jun;33(6):960-2. doi: 10.1002/humu.22071. Epub 2012 Apr 16.
2	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.