Acrorenal syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 11 |
| OrphanetNr: | 971 |
| OMIM Id: |
102520
201310 |
| ICD-10: |
Q87.2 |
| 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: | 20 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0000083) | Renal insufficiency | Frequent [Orphanet] | 232 / 7739 | |||
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(HPO:0008678) | Renal hypoplasia/aplasia | Very frequent [Orphanet] | 127 / 7739 | |||
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(HPO:0012210) | Abnormal renal morphology | 18 / 7739 | ||||
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(HPO:0000277) | Abnormality of the mandible | Occasional [Orphanet] | 394 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0000478) | Abnormality of the eye | Occasional [Orphanet] | 126 / 7739 | |||
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(HPO:0001180) | Hand oligodactyly | 17 / 7739 | ||||
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(HPO:0004060) | Trident hand | Very frequent [Orphanet] | 13 / 7739 | |||
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(HPO:0002997) | Abnormality of the ulna | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0002992) | Abnormality of the tibia | Frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0002818) | Abnormality of the radius | Frequent [Orphanet] | 96 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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