Details of Disease

General Information of Disease (ID: DIS4VPS0)

Disease Name Early-onset non-syndromic cataract
Synonyms nuclear sclerosis of the lens; cataract, age-related nuclear
Definition
Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.|Not in the OMIM series.
Disease Hierarchy
DISUD7SL: Cataract
DIS4VPS0: Early-onset non-syndromic cataract
Disease Identifiers
MONDO ID
MONDO_0011060
MESH ID
C563333
UMLS CUI
C1832423
OMIM ID
601371
MedGen ID
371326
HPO ID
HP:0011142
Orphanet ID
91492

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CPLX2 OTU5QWFH Strong Genetic Variation [1]
FOCAD OT83QOSI Strong Genetic Variation [1]
KCNAB1 OT25GJE9 Strong Genetic Variation [1]
MMAB OTOWOEJN Strong Genetic Variation [1]
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References

1 Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.Hum Mol Genet. 2014 Nov 15;23(22):6119-28. doi: 10.1093/hmg/ddu315. Epub 2014 Jun 20.