ORPHA:93930

Classic bladder exstrophy

Synonyms: Classic exstrophy of the bladder

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Multigenic/multifactorial
Age of onset: Infancy, Neonatal
Status: active

A subtype of exstrophy-epispadias complex (EEC) characterized by an open bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and the abdominal wall.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Classic bladder exstrophy	Classic exstrophy of the bladder
fr	Exstrophie vésicale classique	Exstrophie classique de la vessie
de	Klassische Blasenekstrophie	CEB
es	Extrofia vesical clásica	Extrofia clásica de la vesícula
it	Estrofia vescicale classica
nl	Klassieke blaasexstrofie	Klassieke exstrofie van blaas
pt	Extrofia clássica da bexiga	Bexiga com extrofia clássica
pl	Wynicowanie pęcherza	Klasyczne wynicowanie pęcherza
cs	Extrofie močového měchýře	Klasická extrofie močového měchýře
uk	Ексстрофія сечового міхура	Класична екстрофія сечового міхура
zh	膀胱外翻	典型膀胱外翻
tr	Mesane ekstrofisi	Mesanenin klasik ekstrofisi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	600057	NTBT		validated
ICD-10	Q64.1	E	specific	validated
ICD-11	LB31.3	E	specific	validated
MONDO	0010805	E		validated
MeSH	D001746	E		validated
UMLS	C0005689	E		validated
GARD	6398	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:322Exstrophy-epispadias complex
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare urogenital diseases; rare renal diseases; rare transplant-related disorders

No children.

Genes

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ISL1	Major susceptibility factor in	Assessed	HGNC:6132	ENSG00000016082	600366	5q11.1	ISL LIM homeobox 1	25763902[PMID]
TP63	Major susceptibility factor in	Assessed	HGNC:15979	ENSG00000073282	603273	3q28	tumor protein p63	23284286[PMID]

Prevalence and incidence

5 records

Type	Class	Value	Area	Qualification	Validation	Source
Prevalence at birth	1-9 / 100 000	2.8 / 100 000	Spain	Value and class	Validated	11251990[PMID]
Prevalence at birth	1-9 / 100 000	—	Europe	Class only	Not yet validated	ORPHANET
Point prevalence	1-9 / 100 000	—	Europe	Class only	Not yet validated	ORPHANET
Prevalence at birth	1-9 / 100 000	2.8 / 100 000	United States	Value and class	Not yet validated	8013895[PMID]_15821570[PMID]_17990338[PMID]
Prevalence at birth	1-9 / 100 000	3.05 / 100 000	Worldwide	Value and class	Not yet validated	19878548[PMID]_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.

HPO phenotypes

13 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0004378	Abnormality of the anus
HP:0000056	Abnormality of the clitoris
HP:0002836	Bladder exstrophy
HP:0000039	Epispadias
HP:0008736	Hypoplasia of penis
HP:0001537	Umbilical hernia
HP:0000076	Vesicoureteral reflux
Frequent (79-30%)
HP:0000069	Abnormality of the ureter
HP:0000023	Inguinal hernia
HP:0000010	Recurrent urinary tract infections
Occasional (29-5%)
HP:0002607	Bowel incontinence
HP:0002566	Intestinal malrotation
HP:0001539	Omphalocele

Run the differential on the 7 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/93930
This record as JSON: /data/d/93930.json