Aniridia - absent patella
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 11 |
OrphanetNr: | 1069 |
OMIM Id: |
106220
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ICD-10: |
Q87.8 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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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:
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(HPO:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000526) | Aniridia | 12 / 7739 | ||||
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(HPO:0000508) | Ptosis | Frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0008053) | Aplasia/Hypoplasia of the iris | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0000518) | Cataract | Frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000501) | Glaucoma | Frequent [Orphanet] | 180 / 7739 | |||
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(HPO:0003045) | Abnormality of the patella | Very frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0006498) | Aplasia/Hypoplasia of the patella | 10 / 7739 | ||||
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(HPO:0004299) | Hernia of the abdominal wall | Frequent [Orphanet] | 176 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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