Aniridia - ptosis - intellectual deficit - familial obesity
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 12 |
| OrphanetNr: | 1067 |
| OMIM Id: |
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| ICD-10: |
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| 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: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare genetic intellectual deficit with developmental anomaly
-Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease 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:0008053) | Aplasia/Hypoplasia of the iris | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0000518) | Cataract | Occasional [Orphanet] | 454 / 7739 | |||
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(HPO:0000508) | Ptosis | Very frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0000505) | Visual impairment | Very frequent [Orphanet] | 297 / 7739 | |||
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(HPO:0000545) | Myopia | Very frequent [Orphanet] | 286 / 7739 | |||
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(HPO:0000481) | Abnormality of the cornea | Very frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0000615) | Abnormality of the pupil | Very frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0001022) | Albinism | Occasional [Orphanet] | 43 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Occasional [Orphanet] | 219 / 7739 | |||
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(HPO:0011025) | Abnormality of cardiovascular system physiology | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0011420) | Death | Occasional [Orphanet] | 184 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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