Renal dysplasia - megalocystis - sirenomelia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Selig-Benacerraf-Greene syndrome |
| Number of Symptoms | 7 |
| OrphanetNr: | 1850 |
| OMIM Id: |
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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: | No data available. |
| Inheritance: |
Autosomal dominant inheritance |
| Age of onset: |
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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 Syndromic urogenital tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare urogenital disease |
Symptom Information:
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(HPO:0000072) | Hydroureter | Frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0000795) | Abnormality of the urethra | Frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0008678) | Renal hypoplasia/aplasia | Frequent [Orphanet] | 127 / 7739 | |||
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(HPO:0000079) | Abnormality of the urinary system | Frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0000107) | Renal cyst | Frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0010305) | Absence of the sacrum | Frequent [Orphanet] | 17 / 7739 | |||
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(HPO:0010497) | Sirenomelia | Frequent [Orphanet] | 6 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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