Epispadias
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 5 |
| OrphanetNr: | 93928 |
| OMIM Id: |
|
| ICD-10: |
Q64.0 |
| UMLs: |
C0014588 C0563449 |
| MeSH: |
D004842 |
| MedDRA: |
10015088 |
| Snomed: |
406476007 406477003 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Multifactorial [Orphanet] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Exstrophy-epispadias complex
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease -Rare urogenital disease |
Symptom Information:
|
|
(HPO:0000047) | Hypospadias | Very frequent [Orphanet] | 250 / 7739 | |||
|
|
(HPO:0000076) | Vesicoureteral reflux | Frequent [Orphanet] | 94 / 7739 | |||
|
|
(HPO:0000795) | Abnormality of the urethra | Very frequent [Orphanet] | 38 / 7739 | |||
|
|
(HPO:0011867) | Abnormality of the wing of the ilium | Frequent [Orphanet] | 123 / 7739 | |||
|
|
(HPO:0012815) | Hypoplastic female external genitalia | Frequent [Orphanet] | 36 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|