Pancreatic and Cerebellar Agenesis (PACA)

Alias:
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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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
19
4

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

Title
PMID
Journal
Year
IF
No Data Found!
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