Details of Disease

General Information of Disease (ID: DISLCMIU)

Disease Name Glaucoma 1, open angle, A
Synonyms
glaucoma hereditary, juvenile; GLC1A; glaucoma 1, open angle, 50; glaucoma, primary open angle, juvenile-onset, 1; primary open angle glaucoma juvenile onset 1; JOAG1; MYOC juvenile open angle glaucoma; juvenile open angle glaucoma caused by mutation in MYOC; glaucoma 1, open angle, A; glaucoma 1A, primary open angle; juvenile glaucoma caused by mutation in MYOC; MYOC juvenile glaucoma; JOAG1A; glaucoma 1, open angle, type A
Definition Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene.
Disease Hierarchy
DISZ43T5: Juvenile open angle glaucoma
DISLCMIU: Glaucoma 1, open angle, A
Disease Identifiers
MONDO ID
MONDO_0007664
MESH ID
C564234
UMLS CUI
C1842028
OMIM ID
137750
MedGen ID
333974

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CYP1B1 TTI84H7 Limited Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MYOC OT6DAHNF Definitive Autosomal dominant [2]
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References

1 Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.Am J Hum Genet. 2002 Feb;70(2):448-60. doi: 10.1086/338709. Epub 2002 Jan 3.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.