Diabetes mellitus, permanent neonatal, 3

Preferred Label : Diabetes mellitus, permanent neonatal, 3;

Symbol : PNDM3;

CISMeF acronym : PNDM3;

Type : Phenotype, molecular basis known;

Included titles and symbols : Developmental delay, epilepsy, and neonatal diabetes 2; DEND2;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily C, member 8 gene (ABCC8, 600509.0016);

Laboratory abnormalities : Ketoacidosis; Negative islet-cell autoantibodies; Hyperglycemia; Low fasting C-peptide; Decreased glucagon-stimulated C-peptide;

Prefixed ID : #618857;

Détails

Origin ID

618857;

UMLS CUI

C5394303;

Genes related to phenotype
- Atp-binding cassette, subfamily C, member 8 [OMIM gene]
HPO term(s)
- Athetosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed social development [HPO term]
- Difficulty standing [HPO term]
- Generalized hypotonia [HPO term]
- Glycosuria [HPO term]
- Hyperglycemia [HPO term]
- Interictal epileptiform activity [HPO term]
- Ketonuria [HPO term]
- Motor delay [HPO term]
- Muscle weakness [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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