Permanent Neonatal Diabetes Mellitus (PDMI)

Alias:
Pndm
Permanent Diabetes Mellitus of Infancy
Neonatal Diabetes Mellitus, Permanent
Pdmi
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Permanent Neonatal Diabetes Mellitus, also known as pndm, is related to isolated permanent neonatal diabetes mellitus and diabetes mellitus, permanent neonatal, 1, and has symptoms including seizures and muscle weakness. An important gene associated with Permanent Neonatal Diabetes Mellitus is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11), and among its related pathways/superpathways are Nervous system development and Glucose / Energy Metabolism. The drugs Glyburide and Glucagon have been mentioned in the context of this disorder. Affiliated tissues include pancreas and pancreatic islet, and related phenotypes are shRNA abundance <= 50% and homeostasis/metabolism
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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39
477
124

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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
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IF
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