Details of Disease

General Information of Disease (ID: DISHZK8E)

Disease Name Cataract-glaucoma syndrome
Synonyms cataract - glaucoma
Definition Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISQ1B1S: Disorder of visual system
DISHZK8E: Cataract-glaucoma syndrome
Disease Identifiers
MONDO ID
MONDO_0015567
UMLS CUI
C4305131
MedGen ID
930800
Orphanet ID
162
SNOMED CT ID
718851007

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
TRPM3 TTO3TD8 Limited Autosomal dominant [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TRPM3 OTE4CDOQ Limited Autosomal dominant [1]
PITX3 OTE2KT8P Supportive Autosomal dominant [2]
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References

1 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.
2 A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat Genet. 1998 Jun;19(2):167-70. doi: 10.1038/527.