Isolated aniridia

General Information (adopted from Orphanet):

Synonyms, Signs: AN2, FORMERLY
ANIRIDIA II, FORMERLY
AN
Number of Symptoms 15
OrphanetNr: 250923
OMIM Id: 106210
ICD-10: Q13.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1.38 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Aniridia
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Nonsyndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
2
(HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
3
(HPO:0008053) Aplasia/Hypoplasia of the iris Very frequent [Orphanet] 38 / 7739
4
(HPO:0007759) Opacification of the corneal stroma 77 / 7739
5
(HPO:0000609) Optic nerve hypoplasia 26 / 7739
6
(HPO:0007957) Corneal opacity 84 / 7739
7
(HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
8
(HPO:0000526) Aniridia 12 / 7739
9
(HPO:0000505) Visual impairment 297 / 7739
10
(HPO:0000659) Peters anomaly 10 / 7739
11
(HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
12
(HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
13
(HPO:0008059) Aplasia/Hypoplasia of the macula Very frequent [Orphanet] 21 / 7739
14
(HPO:0007750) Hypoplasia of the fovea 11 / 7739
15
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in most cases. This feature can range from a readily visible, almost complete absence of the iris, through enlargement and ...
Clinical Description OMIM Shaw et al. (1960) ascertained 176 cases of aniridia in the lower Michigan peninsula. Forty isolated cases were considered mutants. The frequency in Michigan was about 1.8 x 10(-5) and the mutation rate about 4 x 10(-6) per ...
Molecular genetics OMIM Fantes et al. (1992) described a mother and son with aniridia associated with a submicroscopic 11p13 deletion. This was a rare case of an inherited WAGR deletion; the family was ascertained through the son who presented with Wilms ...