Details of Disease

General Information of Disease (ID: DIS3H757)

Disease Name Aniridia 3
Synonyms TRIM44 isolated aniridia; aniridia 3; AN3; isolated aniridia caused by mutation in TRIM44; aniridia type 3; aniridia 3; AN3
Definition
Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.|The term, ocular dysgenesis caused by defects in PAX6 regulation, was proposed by the ClinGen Glaucoma / Neuro-Ophthalmology GCEP as a parent term for cases of ocular disease caused by variants in the PAX6 gene itself (MONDO:0800183 PAX6-related ocular dysgenesis) or by disruption of PAX6 expression by variants in the ELP4 locus ( MONDO:0014937 aniridia 2) or TRIM44 locus (this class, MONDO:0014938 aniridia 3).
Disease Hierarchy
DISLMRN4: SMARCB1-deficient kidney medullary carcinoma
DISD715V: Hereditary neurological disease
DISTN8X8: Hereditary renal cell carcinoma
DISTQ9IH: Eye carcinoma
DISPEZG6: Isolated aniridia
DISRUQLS: Iris cancer
DIS3H757: Aniridia 3
Disease Identifiers
MONDO ID
MONDO_0014938
UMLS CUI
C4310695
OMIM ID
617142
MedGen ID
934662

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
TRIM44 OT0B1T2B Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.