Details of Disease

General Information of Disease (ID: DIS5M02Q)

Disease Name Cataract 1 multiple types
Synonyms
cataract, zonular pulverulent, 1; cataract, Duffy-linked; cataract 1, multiple types; CAE1; zonular pulverulent cataract 1; CZP1; cataract (disease) caused by mutation in GJA8; CTRCT1; Duffy linked cataract; cataract 1, multiple types, with or without microcornea; GJA8 cataract (disease)
Definition Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene.
Disease Hierarchy
DISUD7SL: Cataract
DIS5M02Q: Cataract 1 multiple types
Disease Identifiers
MONDO ID
MONDO_0007285
MESH ID
C566158
UMLS CUI
C1861828
OMIM ID
116200
MedGen ID
349374

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GJA3 TTFZRG0 Strong Genetic Variation [1]
GJA8 TTJ7ATH Definitive Autosomal dominant [2]
GJA8 TTJ7ATH Definitive Genetic Variation [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GJA8 OTZCPRKD Definitive Autosomal dominant [2]
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References

1 A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family.Mol Vis. 2006 Jul 20;12:791-5.
2 New mutations in GJA8 expand the phenotype to include total sclerocornea. Clin Genet. 2018 Jan;93(1):155-159. doi: 10.1111/cge.13045. Epub 2017 Sep 8.
3 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.Hum Mutat. 2016 Apr;37(4):371-84. doi: 10.1002/humu.22948. Epub 2016 Jan 14.