Details of Disease

General Information of Disease (ID: DISRGIJ7)

Disease Name Cataract 11 multiple types
Synonyms
cataract 11, multiple types; Posterior polar cataract, 4; cataract, posterior polar, 4; cataract 11 with microphthalmia and neurodevelopmental abnormalities; Cpp4; posterior polar cataract 4; CTPP4; CPP4; cataract 11, syndromic, autosomal recessive; early-onset non-syndromic cataract caused by mutation in PITX3; CTRCT11; PITX3 early-onset non-syndromic cataract
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISRGIJ7: Cataract 11 multiple types
Disease Identifiers
MONDO ID
MONDO_0012527
MESH ID
C535344
UMLS CUI
C1864567
OMIM ID
610623
MedGen ID
351162

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PITX3 OTE2KT8P Definitive Autosomal dominant [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.