Sacral Defect with Anterior Meningocele (SDAM)

Alias:
Caudal Regression Syndrome
Caudal Regression Sequence
Caudal Dysgenesis Syndrome
Sacral Agenesis
Caudal Dysplasia Sequence
Caudal Dysplasia
Sdam
Sacral Defect and Anterior Sacral Meningocele
Sacral Agenesis Syndrome
Lumbo-Sacral Agenesis
Rudd Klimek Syndrome
Sirenomelia
Sa/crs
Crs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sacral Defect with Anterior Meningocele, also known as caudal regression syndrome, is related to anus, imperforate and spondylocostal dysostosis 1, autosomal recessive, and has symptoms including back pain and headache. An important gene associated with Sacral Defect with Anterior Meningocele is VANGL1 (VANGL Planar Cell Polarity Protein 1), and among its related pathways/superpathways are Signal Transduction and Gastrulation. Affiliated tissues include spinal cord and kidney, and related phenotypes are bowel incontinence and decreased muscle mass

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
1-9/100000
33
359
26

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

Name
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
Year
IF
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