" /> Diabetes mellitus, permanent neonatal, 4 - CISMeF





Preferred Label : Diabetes mellitus, permanent neonatal, 4;

Symbol : PNDM4;

CISMeF acronym : PNDM4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive (in 1 patient); Autosomal dominant;

Molecular basis : Caused by mutation in the insulin gene (INS, 176730.0008);

Laboratory abnormalities : Ketoacidosis; Hyperglycemia; Negative islet cell autoantibodies; Negative insulinoma associated-2 autoantibodies; Ketosis; Negative glutamic acid decarboxylase autoantibodies; Elevated hemoglobin A1C; Low-undetectable basal C-peptide; Negative insulin autoantibodies;

Prefixed ID : #618858;

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30/07/2025


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