PBS
MCID: PRN038
MIFTS: 57
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Prune Belly Syndrome (PBS)
Categories:
Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Prune Belly Syndrome:
Characteristics:Inheritance:OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
affected individuals are symptomatic from birth distended bladder and hydronephrosis may be detected prenatally Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Nephrological diseases
ICD10:
31
32
ICD11:
33
Orphanet: 58
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GARD: 19 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. MalaCards based summary: Prune Belly Syndrome, also known as abdominal muscle deficiency syndrome, is related to visceral myopathy 1 and vesicoureteral reflux. An important gene associated with Prune Belly Syndrome is CHRM3 (Cholinergic Receptor Muscarinic 3), and among its related pathways/superpathways are PAK Pathway and Cardiac conduction. The drugs Testosterone and Hormones have been mentioned in the context of this disorder. Affiliated tissues include lung, smooth muscle and skin, and related phenotypes are cryptorchidism and decreased fertility Orphanet: 58 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. Disease Ontology: 11 A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has material basis in homozygous mutation in the CHRM3 gene on chromosome 1q43. OMIM®: 57 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) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 A syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities. Wikipedia: 75 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:58 30 (show all 41)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:100100 (Updated 08-Dec-2022)MGI Mouse Phenotypes related to Prune Belly Syndrome:45
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Drugs for Prune Belly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
Cochrane evidence based reviews: prune belly syndrome |
Organs/tissues related to Prune Belly Syndrome:
MalaCards :
Lung,
Smooth Muscle,
Skin,
Testes,
Kidney,
Uterus,
Bone
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Articles related to Prune Belly Syndrome:(show top 50) (show all 780)
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ClinVar genetic disease variations for Prune Belly Syndrome:5
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Search
GEO
for disease gene expression data for Prune Belly Syndrome.
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Pathways related to Prune Belly Syndrome according to GeneCards Suite gene sharing:
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Biological processes related to Prune Belly Syndrome according to GeneCards Suite gene sharing:
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