Prune belly syndrome

Preferred Label : Prune belly syndrome;

Symbol : PBS;

CISMeF acronym : PBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Eagle-barrett syndrome; EGBRS; Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism;

Description : In its rare complete form, 'prune belly' syndrome comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the muscarinic cholinergic receptor-3 gene (CHRM3, 118494.0001);

Prefixed ID : #100100;

Details

Origin ID

100100;

UMLS CUI

C0033770;

Automatic exact mappings (from CISMeF team)
- CHRM3 wt Allele [NCIt concept]
- Dulbecco's Phosphate-Buffered Saline [NCIt concept]
- Pencil Beam Scanning [NCIt concept]
- Spontaneous bacterial peritonitis [MedDRA LLT]
- TSPO wt Allele [NCIt concept]
- interstitial cystitis [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Eagle Barrett syndrome [MedDRA Preferred Term]
- Prune Belly Syndrome [NCIt concept]
- Prune Belly syndrome [PASCAL descriptor]
- Prune belly [HPO term]
- Prune belly syndrome [ICD-10 Sub-category]
- Prune belly syndrome [ICD-11 Sub-sub category]
- Prune belly syndrome [ICD-9 code]
- Prune belly syndrome [ICD-10 Sub-category (who)]
- Prune belly syndrome [ORDO Disease]
- Prune belly syndrome [MedDRA LLT]
- Prune belly syndrome (disorder) [SNOMED CT concept]
- Triad syndrome [MedDRA LLT]
- Urethral obstruction sequence [MeSH concept]
- prune belly syndrome [DO Concept]
- prune belly syndrome [Disease (Nov.)]
- prune belly syndrome [MeSH Descriptor]
- prune belly syndrome [MeSH concept]
- prune belly syndrome [SNOMED Notion]
- urethral obstruction sequence [MeSH Supplementary Concept]
DO Cross reference
- prune belly syndrome [DO Concept]
Genes related to phenotype
- Cholinergic receptor, muscarinic, 3 [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormal sternum morphology [HPO term]
- Abnormality of the skin [HPO term]
- Anal atresia [HPO term]
- Aplasia of the abdominal wall musculature [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital hip dislocation [HPO term]
- Congenital posterior urethral valve [HPO term]
- Cryptorchidism [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Oligohydramnios [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Prune belly [HPO term]
- Talipes equinovarus [HPO term]
- Urethral valve [HPO term]
- Usually autosomal dominant [HPO term]
- Xerostomia [HPO term]
ORDO concept(s)
- Prune belly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Eagle Barrett syndrome [MedDRA Preferred Term]
- Prune Belly Syndrome [NCIt concept]
- Prune belly [HPO term]
- Prune belly syndrome [ICD-10 Sub-category (who)]
- Prune belly syndrome [MedDRA LLT]
- Prune belly syndrome [ORDO Disease]
- Prune belly syndrome [ICD-10 Sub-category]
- Prune belly syndrome [ICD-9 code]
- Prune belly syndrome [ICD-11 Sub-sub category]
- Prune belly syndrome (disorder) [SNOMED CT concept]
- Triad syndrome [MedDRA LLT]
- prune belly syndrome [SNOMED Notion]
- prune belly syndrome [MeSH Descriptor]
- prune belly syndrome [MeSH concept]
- prune belly syndrome [DO Concept]
- prune belly syndrome [Disease (Nov.)]

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