Details of Disease

General Information of Disease (ID: DISVRJYC)

Disease Name Cataract 14 multiple types
Synonyms
cataract 14, multiple types; cataract, zonular pulverulent 3; Cae3; zonular pulverulent cataract 3; CAE3; CZP3; GJA3 early-onset non-syndromic cataract; CTRCT14; early-onset non-syndromic cataract caused by mutation in GJA3
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISVRJYC: Cataract 14 multiple types
Disease Identifiers
MONDO ID
MONDO_0011162
MESH ID
C566608
UMLS CUI
C1866078
OMIM ID
601885
MedGen ID
356152

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
GJA3 TTFZRG0 Disputed Genetic Variation [1]
GJA3 TTFZRG0 Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GJA3 OTXV6ETF Definitive Autosomal dominant [2]
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References

1 Alterations at Arg(76) of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.Am J Physiol Cell Physiol. 2018 Nov 1;315(5):C623-C635. doi: 10.1152/ajpcell.00157.2018. Epub 2018 Jul 25.
2 Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). Hum Genet. 2000 Feb;106(2):206-9. doi: 10.1007/s004390051029.