Aniridia - absent patella

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr: 1069
OMIM Id: 106220
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic aniridia
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
(HPO:0000526) Aniridia 12 / 7739
3
(HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
4
(HPO:0008053) Aplasia/Hypoplasia of the iris Very frequent [Orphanet] 38 / 7739
5
(HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
6
(HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
7
(HPO:0003045) Abnormality of the patella Very frequent [Orphanet] 33 / 7739
8
(HPO:0006498) Aplasia/Hypoplasia of the patella 10 / 7739
9
(HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
10
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: