Pancreatic and Cerebellar Agenesis (PACA)

Pancreatic and Cerebellar Agenesis(来自ICD-11)
别称:
Permanent Neonatal Diabetes Mellitus-Pancreatic and Cerebellar Agenesis Syndrome
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis
Paca
Permanent Neonatal Diabetes Mellitus with Cerebellar Agenesis
Diabetes Mellitus and Cerebellar Hypoplasia/agenesis
Agenesis, Pancreatic and Cerebellar
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pancreatic and Cerebellar Agenesis, also known as permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, is related to non-specific autoimmune cerebellar ataxia without characteristic antibodies and pancreatic cancer, and has symptoms including seizures and joint stiffness. An important gene associated with Pancreatic and Cerebellar Agenesis is PTF1A (Pancreas Associated Transcription Factor 1a). Affiliated tissues include pancreas and dorsal root ganglion, and related phenotypes are low-set ears and triangular face
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基础信息

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参考文献
MALACARDS
AR
Newborn
<1/1000000
1
19
4

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靶点药物

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MGI
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