Cloacal Exstrophy

Alias:
Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome
Oeis Complex
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cloacal Exstrophy, also known as omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome, is related to bladder exstrophy-epispadias-cloacal exstrophy complex and bladder exstrophy. An important gene associated with Cloacal Exstrophy is GKAP1 (G Kinase Anchoring Protein 1), and among its related pathways/superpathways are Metabolism of steroids and Metabolism of steroid hormones. Affiliated tissues include kidney and uterus, and related phenotypes are vesicoureteral reflux and hypoplasia of penis
Related ID:
ICD11:2004612103

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Newborn
1-9/1000000
15
140
--

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
Journal
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IF
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