Sacral Defect with Anterior Meningocele (SDAM)

Sacral Defect with Anterior Meningocele(来自ICD-11)

别称:

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

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