ORPHA:322
Exstrophy-epispadias complex
Synonyms: BEEC · Bladder exstrophy-epispadias-cloacal extrophy complex · EEC
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare non-syndromic uro-genital tract malformation characterized by a spectrum of manifestations ranging in severity: epispadias (E) is the mildest form, classic exstrophy of the bladder (CEB) is the intermediate form and cloacal exstrophy (CE) the most severe form. Exstrophy-epispadias complex (EEC) involves the bladder, the genitalia, the lower abdominal wall, the pelvis and pelvic floor, and depending on the phenotype, the spine and the anus.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Exstrophy-epispadias complex | BEEC · Bladder exstrophy-epispadias-cloacal extrophy complex · EEC |
| fr | Exstrophie vésicale-épispadias | BEEC · EEC |
| de | Ekstrophie-Epispadie-Komplex | BEEC · BEEK · Blasenekstrophie-Epispadie-Kloakenekstrophie-Komplex · Blasenekstrophie-Epispadie-Komplex · EEC |
| es | Complejo extrofia-epispadias | Complejo extrofia vesical-epispadias-extrofia cloacal |
| it | Estrofia-epispadia complessa | BEEC · Complesso estrofia vescicale-epispadia-estrofia della cloaca · EEC |
| nl | Exstrofie - epispadie-complex | BEEC · Blaasexstrofie - epispadie - cloacale exstrofie-complex · EEC |
| pt | Complexo de extrofia da bexiga-epispádias | |
| pl | Zespół wynicowania i wierzchniactwa | BEEC · EEC · Kompleks wynicowanie pęcherza-wierzchniactwo-wynicowanie kloaki |
| cs | Komplex zahrnující extrofii a epispadii | BEEC · EEC · Komplex zahrnující extrofii močového měchýře, epispadii a kloakální extrofii |
| uk | Комплекс екстрофії та епіспадії | BEEC · Комплекс екстрофії сечового міхура - епіспадія - клоакальна екстрофія · ЄЕС |
| zh | 膀胱外翻-尿道上裂复合畸形 | 膀胱外翻-尿道上裂-泄殖腔外翻复合畸形 |
| tr | Ekstrofi-epispadias kompleksi | EEC · BEEC · Mesane ekstrofi-epispadias-kloakal ekstrofi kompleksi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 258040 | BTNT | validated | |
| OMIM | 600057 | E | validated | |
| ICD-10 | Q64.1 | NTBT | attributed | validated |
| MONDO | 0017919 | E | validated | |
| MeSH | C564009 | E | validated | |
| UMLS | C1838703 | E | validated | |
| GARD | 2207 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:357506Genetic non-syndromic renal or urinary tract malformation
rare genetic diseases - ORPHA:108977Non-syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:93546Non-syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare renal diseases; rare transplant-related disorders - ORPHA:182124Non-syndromic urogenital tract malformation of male and female
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare transplant-related disorders
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ISL1 | ORPHA:93930Classic bladder exstrophy | Major susceptibility factor in | Assessed | HGNC:6132 | ENSG00000016082 | 600366 | 5q11.1 | ISL LIM homeobox 1 | 25763902[PMID] |
| TP63 | ORPHA:93930Classic bladder exstrophy | Major susceptibility factor in | Assessed | HGNC:15979 | ENSG00000073282 | 603273 | 3q28 | tumor protein p63 | 23284286[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
40 annotations · validated 2021-06-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0010866 | Abdominal wall defect | |
| HP:0004298 | Abnormality of the abdominal wall | |
| HP:0002836 | Bladder exstrophy | |
| HP:0100645 | Cystocele | |
| HP:0000039 | Epispadias | |
| HP:0000076 | Vesicoureteral reflux | |
| Occasional (29-5%) | ||
| HP:0001367 | Abnormal joint morphology | |
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0030261 | Absent penis | |
| HP:0100599 | Bifid penis | |
| HP:0000048 | Bifid scrotum | |
| HP:0000136 | Bifid uterus | |
| HP:0025489 | Bladder duplication | |
| HP:0004321 | Bladder fistula | |
| HP:0030014 | Female sexual dysfunction | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000023 | Inguinal hernia | |
| HP:0040307 | Male sexual dysfunction | |
| HP:0001539 | Omphalocele | |
| HP:0100600 | Penoscrotal transposition | |
| HP:0000075 | Renal duplication | |
| HP:0000089 | Renal hypoplasia | |
| HP:0000083 | Renal insufficiency | |
| HP:0000020 | Urinary incontinence | |
| Very rare (<4-1%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0000271 | Abnormality of the face | |
| HP:0000290 | Abnormality of the forehead | |
| HP:0000315 | Abnormality of the orbital region | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0002023 | Anal atresia | |
| HP:0002025 | Anal stenosis | |
| HP:0010475 | Cloacal exstrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0000238 | Hydrocephalus | |
| HP:0000252 | Microcephaly | |
| HP:0000110 | Renal dysplasia | |
| HP:0002414 | Spina bifida | |
Annotation source: 32564346[PMID]_30076940[PMID]_30576745[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/322
- This record as JSON: /data/d/322.json