Prune Belly Syndrome (PBS)

Alias:
Abdominal Muscle Deficiency Syndrome
Eagle-Barrett Syndrome
Eagle-Barret Syndrome
Obrinsky Syndrome
Triad Syndrome
Egbrs
Pbs
Abdominal Muscles, Absence of, with Urinary Tract Abnormality and Cryptorchidism
Absence of Abdominal Muscles with Urinary Tract Abnormality and Cryptorchidism
Abdominal Muscular Deficiency Syndrome
Abdomen Muscular Deficiency Syndrome
Abdomen Muscle Deficiency Syndrome
Abdominal Muscle Aplasia Syndrome
Obrisnksy Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Prune Belly Syndrome, also known as abdominal muscle deficiency syndrome, is related to visceral myopathy 1 and renal hypoplasia. An important gene associated with Prune Belly Syndrome is CHRM3 (Cholinergic Receptor Muscarinic 3), and among its related pathways/superpathways are Signal Transduction and PAK Pathway. The drugs Testosterone and Androgens have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle and skin, and related phenotypes are cryptorchidism and decreased fertility
Related ID:
MESH:D011535
ICD11:1393408621

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
AR
XL
Antenatal
1-9/100000
24
129
25

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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