Diabetes mellitus, permanent neonatal, 4

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;

Details

Origin ID

618858;

UMLS CUI

C5394307;

Genes related to phenotype
- Insulin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Diabetic ketoacidosis [HPO term]
- Elevated hemoglobin A1c [HPO term]
- Hyperglycemia [HPO term]
- Reduced C-peptide level [HPO term]
- Small for gestational age [HPO term]
- Type I diabetes mellitus [HPO term]
ORDO concept(s)
- Isolated permanent neonatal diabetes mellitus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Isolated permanent neonatal diabetes mellitus [ORDO Disease]

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