Details of Disease

General Information of Disease (ID: DIS6AYPD)

Disease Name Aniridia 2
Synonyms aniridia type 2; AN2; aniridia 2
Definition
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 (this class, MONDO:0014937 aniridia 2) or TRIM44 locus (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
DIS6AYPD: Aniridia 2
Disease Identifiers
MONDO ID
MONDO_0014937
UMLS CUI
C0344543
OMIM ID
617141
MedGen ID
138010
SNOMED CT ID
253232000

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
ELP4 OTP5GZ9V Strong Autosomal dominant [1]
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References

1 A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. J Clin Neurosci. 2009 Dec;16(12):1610-4. doi: 10.1016/j.jocn.2009.03.022. Epub 2009 Sep 29.