Exstrophy-epispadias complex
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BEEC EEC Bladder exstrophy-epispadias-cloacal extrophy complex |
| Number of Symptoms | 33 |
| OrphanetNr: | 322 |
| OMIM Id: |
258040
600057 |
| ICD-10: |
Q64.1 |
| 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: |
Multifactorial [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic nonsyndromic renal or urinary tract malformation
-Rare genetic disease Nonsyndromic diaphragmatic or abdominal wall malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis Nonsyndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare renal disease Nonsyndromic urogenital tract malformation of male and female -Rare developmental defect during embryogenesis -Rare urogenital disease |
Symptom Information:
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(HPO:0010475) | Cloacal exstrophy | 2 / 7739 | ||||
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(HPO:0001586) | Vesicovaginal fistula | 4 / 7739 | ||||
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(HPO:0000081) | Duplicated collecting system | 16 / 7739 | ||||
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(HPO:0008707) | Absent scrotum | 1 / 7739 | ||||
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(HPO:0000072) | Hydroureter | 146 / 7739 | ||||
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(HPO:0000143) | Rectovaginal fistula | 18 / 7739 | ||||
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(HPO:0000126) | Hydronephrosis | 119 / 7739 | ||||
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(HPO:0000054) | Micropenis | 257 / 7739 | ||||
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(HPO:0000104) | Renal agenesis | 68 / 7739 | ||||
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0002836) | Bladder exstrophy | 8 / 7739 | ||||
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(HPO:0000136) | Bifid uterus | 6 / 7739 | ||||
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(HPO:0000039) | Epispadias | 7 / 7739 | ||||
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(HPO:0000125) | Pelvic kidney | 10 / 7739 | ||||
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(HPO:0000033) | Ambiguous genitalia, male | 9 / 7739 | ||||
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(HPO:0000061) | Ambiguous genitalia, female | 8 / 7739 | ||||
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(HPO:0000066) | Labial hypoplasia | 10 / 7739 | ||||
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(HPO:0010305) | Absence of the sacrum | 17 / 7739 | ||||
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(HPO:0002937) | Hemivertebrae | 41 / 7739 | ||||
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(HPO:0001374) | Congenital hip dislocation | 51 / 7739 | ||||
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(HPO:0002475) | Myelomeningocele | 29 / 7739 | ||||
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(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
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(HPO:0008490) | Sacral segmentation defect | 2 / 7739 | ||||
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(HPO:0000878) | 11 pairs of ribs | 19 / 7739 | ||||
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(HPO:0001545) | Anteriorly placed anus | 55 / 7739 | ||||
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(HPO:0001539) | Omphalocele | 102 / 7739 | ||||
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(HPO:0002023) | Anal atresia | 135 / 7739 | ||||
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(HPO:0005223) | Duplicated colon | 2 / 7739 | ||||
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(HPO:0002566) | Intestinal malrotation | 89 / 7739 | ||||
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(HPO:0002144) | Tethered cord | 8 / 7739 | ||||
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(HPO:0002308) | Arnold-Chiari malformation | 42 / 7739 | ||||
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(HPO:0003745) | Sporadic | 131 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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