Familial hypospadias
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 2 |
| OrphanetNr: | 440 |
| OMIM Id: |
146450
300633 300758 300856 |
| ICD-10: |
Q54 |
| 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 Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic urogenital tract malformation
-Rare genetic disease Nonsyndromic urogenital tract malformation of male -Rare developmental defect during embryogenesis -Rare urogenital disease |
Symptom Information:
|
|
(HPO:0000047) | Hypospadias | Very frequent [Orphanet] | 250 / 7739 | |||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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