ORPHA:2970
Prune belly syndrome
Synonyms: Abdominal muscle deficiency syndrome · Eagle-Barret syndrome · Obrinsky syndrome · Triad syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable, X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare lower urinary tract obstruction (LUTO) characterized by varying degrees of an enlarged urinary bladder, dilated ureters, hydronephrosis, and poorly contractile and disorganized detrusor and ureteral smooth muscle, in association with hypoplastic or absent midline abdominal skeletal musculature, and bilaterally undescended testes in males.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Prune belly syndrome | Abdominal muscle deficiency syndrome · Eagle-Barret syndrome · Obrinsky syndrome · Triad syndrome |
| fr | Syndrome prune belly | Syndrome d'Eagle-Barret · Syndrome d'Obrinsky · Syndrome triad |
| de | Prune-Belly-Syndrom | Eagle-Barret-Syndrom · Kongenitales Fehlen der Bauchmuskulatur · Obrinsky-Fröhlich-Syndrom · Obrinsky-Syndrom · Pflaumenbauchsyndrom · Triad-Syndrom |
| es | Síndrome del abdomen en ciruela pasa | Síndrome de Eagle-Barret · Síndrome de Obrinsky · Síndrome de deficiencia muscular abdominal · Síndrome de la triada |
| it | Sindrome ''prune belly'' | Sindrome da deficit dei muscoli addominali · Sindrome della triade · Sindrome di Eagle-Barret · Sindrome di Obrinsky |
| nl | Prune belly-syndroom | Abdominale spierdeficiëntie-syndroom · Pruimenbuiksyndroom · Syndroom van Eagle-Barret · Syndroom van Obrinsky · Triadesyndroom |
| pt | Síndrome "prune belly" | Síndrome Eagle-Barret · Síndrome Obrinsky · Síndrome de deficiência dos músculos abdominais · Síndrome tríade |
| pl | Zespół suszonej śliwki | Obrinsky syndrome · Zespół Eagle'a i Barreta · Zespół niedorozwoju mięśni brzucha · Zespół triady |
| cs | Syndrom svraštělého břicha | Obrinského syndrom · Prune belly syndrom · Syndrom deficitu břišních svalů · Eagleův-Barrettův syndrom · Eagle-Barrettův syndrom |
| uk | Синдром сливового живота | Синдром абдомінальної мязової недостатності · Синдром Ігл-Барре · Синдром Обринського · Синдром тріади |
| zh | 梨状腹综合征 | 腹部肌肉缺乏综合征 |
| tr | Prune-Belly sendromu | Triad sendromu · Obrinsky sendromu · Eagle-Barret sendromu · Karın kas eksikliği sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 100100 | E | validated | |
| ICD-10 | Q79.4 | NTBT | attributed | validated |
| ICD-11 | LD2F.10 | E | specific | validated |
| MONDO | 0007032 | E | validated | |
| MeSH | D011535 | E | validated | |
| UMLS | C0033770 | E | validated | |
| GARD | 7479 | E | validated | |
| MedDRA | 10051025 | 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 (1):
- ORPHA:435365Fetal lower urinary tract obstruction
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare renal diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:93178OBSOLETE: Partial prune belly syndrome referred to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHRM3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1952 | ENSG00000133019 | 118494 | 1q43 | cholinergic receptor muscarinic 3 | 22077972[PMID] |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.4 / 100 000 | Italy | Value and class | Validated | 22506933[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 / 100 000 | United Kingdom | Value and class | Not yet validated | 8876090[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 3.42 / 100 000 | Canada | Value and class | Validated | 6454342[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.8 / 100 000 | United States | Value and class | Validated | 20381841[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | 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
34 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000014 | Abnormality of the bladder | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0005199 | Aplasia of the abdominal wall musculature | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0010957 | Congenital posterior urethral valve | |
| HP:0000028 | Cryptorchidism | |
| HP:0000144 | Decreased fertility | |
| HP:0000072 | Hydroureter | |
| HP:0000076 | Vesicoureteral reflux | |
| Frequent (79-30%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0002019 | Constipation | |
| HP:0008734 | Decreased testicular size | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0001562 | Oligohydramnios | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0000083 | Renal insufficiency | |
| Occasional (29-5%) | ||
| HP:0000130 | Abnormality of the uterus | |
| HP:0002023 | Anal atresia | |
| HP:0001631 | Atrial septal defect | |
| HP:0100543 | Cognitive impairment | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0001508 | Failure to thrive | |
| HP:0011100 | Intestinal atresia | |
| HP:0002566 | Intestinal malrotation | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000767 | Pectus excavatum | |
| HP:0002650 | Scoliosis | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0100779 | Urogenital sinus anomaly | |
| HP:0001629 | Ventricular septal defect | |
| HP:0003422 | Vertebral segmentation defect | |
| HP:0002580 | Volvulus | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2970
- This record as JSON: /data/d/2970.json