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PBS
MCID: PRN038
MIFTS: 54
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Prune Belly Syndrome (PBS)
Categories:
Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Prune Belly Syndrome:
Characteristics:Orphanet epidemiological data:60
prune belly syndrome
Inheritance: Autosomal dominant,Not applicable,X-linked recessive; Prevalence: 1-9/100000 (Italy),1-9/100000 (United States); Age of onset: Neonatal; Age of death: any age; HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Nephrological diseases Skin diseases Muscle diseases
ICD10:
34
35
External Ids:
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NIH Rare Diseases
:
54
Prune belly syndrome (PBS) is a condition characterized by a lack of abdominal muscles, causing the skin on the abdominal area to wrinkle and appear "prune-like"; undescended testicles in males; and urinary tract malformations. PBS is more common in males. The severity of symptoms can vary greatly from person to person. At one end of the spectrum, the condition may cause severe kidney and pulmonary (lung) problems incompatible with life (resulting in stillbirth); at the other end of the spectrum, the condition may cause few, if any, urological abnormalities. The cause of PBS is unknown. Treatment varies, but usually includes surgical management of symptoms.
MalaCards based summary : Prune Belly Syndrome, also known as eagle-barrett syndrome, is related to prune belly syndrome with pulmonic stenosis, mental retardation, and deafness and interstitial cystitis. An important gene associated with Prune Belly Syndrome is CHRM3 (Cholinergic Receptor Muscarinic 3). The drugs Testosterone and Testosterone enanthate have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and uterus, and related phenotypes are cryptorchidism and decreased fertility Disease Ontology : 12 A syndrome that has material basis in homozygous mutation in the CHRM3 gene on chromosome 1q43. It is characterized by megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin. OMIM : 58 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). (100100) UniProtKB/Swiss-Prot : 76 Prune belly syndrome: A syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities. Wikipedia : 77 Prune belly syndrome is a rare, genetic birth defect affecting about 1 in 40,000 births. About 97% of... more... |
Human phenotypes related to Prune Belly Syndrome:60 33 (show all 40)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:100100 |
Drugs for Prune Belly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 14)
Interventional clinical trials:
Cochrane evidence based reviews: prune belly syndrome |
MalaCards organs/tissues related to Prune Belly Syndrome:42
Skin,
Kidney,
Uterus,
Colon,
Eye,
Adrenal Gland,
Neutrophil
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Articles related to Prune Belly Syndrome:(show top 50) (show all 373)
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Genes related to Prune Belly Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Prune Belly Syndrome:6
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Search
GEO
for disease gene expression data for Prune Belly Syndrome.
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Cellular components related to Prune Belly Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Prune Belly Syndrome according to GeneCards Suite gene sharing:
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