Details of Disease

General Information of Disease (ID: DISF1WRD)

Disease Name Cataract 6 multiple types
Synonyms
cataract, age-related cortical, 2; CTPP; Posterior polar cataract, 1; cataract, posterior polar, 1; CTPA; cataract 6, multiple types; posterior polar cataract 1; age related cortical cataract 2; CTPP1; ARCC2; EPHA2 cataract (disease); cataract (disease) caused by mutation in EPHA2; CTRCT6
Definition Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISUD7SL: Cataract
DISF1WRD: Cataract 6 multiple types
Disease Identifiers
MONDO ID
MONDO_0007288
MESH ID
C535339
UMLS CUI
C1861825
OMIM ID
116600
MedGen ID
396229

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
EPHA2 TTRJB2G Strong Autosomal dominant [1]
EPHA2 TTRJB2G Strong CausalMutation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EPHA2 OTI6QNX2 Strong Autosomal dominant [1]
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References

1 The EPHA2 gene is associated with cataracts linked to chromosome 1p. Mol Vis. 2008;14:2042-55. Epub 2008 Nov 12.
2 Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. PLoS One. 2013 Aug 27;8(8):e72518. doi: 10.1371/journal.pone.0072518. eCollection 2013.