aniridia 3
MONDO:0014938Mondo
Findings
No curated finding names aniridia 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.
Definition from the Mondo Disease Ontology (MONDO:0014938), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AniridiaHPOHP:0000526
- 8 of 8 reported patients · Congenital onset
- Reduced visual acuityHPOHP:0007663
- 8 of 8 reported patients
- CataractHPOHP:0000518
- 6 of 8 reported patients
- GlaucomaHPOHP:0000501
- 2 of 8 reported patients
- NystagmusHPOHP:0000639
- 0 of 8 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TRIM44HGNC:19016
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · ClinGen · Autosomal dominant · 2023
- Limited · Genomics England PanelApp · Autosomal dominant · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Limited · G2P · Autosomal dominant · 2017
Where it sits
Other names
5 names
Resolves to: aniridia 3
- Also called
- AN3aniridia 3; AN3aniridia type 3isolated aniridia caused by mutation in TRIM44TRIM44 isolated aniridia