aniridia 1
MONDO:0024507Mondo
Findings
No curated finding names aniridia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
20 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
- 19 of 19 reported patients
- Anterior subcapsular cataractHPOHP:0010923
- 1 of 1 reported patient
- Bilateral ptosisHPOHP:0001488
- 1 of 1 reported patient
- Chorioretinal hypopigmentationHPOHP:0040030
- 1 of 1 reported patient
- Corneal erosionHPOHP:0200020
- 1 of 1 reported patient
- Ectopia pupillaeHPOHP:0009918
- 1 of 1 reported patient
- ExotropiaHPOHP:0000577
- 1 of 1 reported patient
- Hypoplasia of the foveaHPOHP:0007750
- 11 of 11 reported patients
- Hypoplasia of the irisHPOHP:0007676
- 1 of 1 reported patient
- Retinal vascular tortuosityHPOHP:0012841
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 8 of 10 reported patients
- PtosisHPOHP:0000508
- 6 of 10 reported patients
Show the remaining 8
- Corneal neovascularizationHPOHP:0011496
- 5 of 10 reported patients
- StrabismusHPOHP:0000486
- 4 of 10 reported patients
- GlaucomaHPOHP:0000501
- 7 of 19 reported patients
- CataractHPOHP:0000518
- 2 of 9 reported patients
- Ectopia lentisHPOHP:0001083
- 1 of 9 reported patients
- Macular agenesisHPOHP:0033743
- 1 of 9 reported patients
Genes
2 genes
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.
Where it sits
- A kind of
Other names
2 names
Resolves to: aniridia 1
- Also called
- AN1cataract with late-onset corneal dystrophy