Diabetes mellitus, permanent neonatal, 2

Preferred Label : Diabetes mellitus, permanent neonatal, 2;

Symbol : PNDM2;

CISMeF acronym : PNDM2;

Type : Phenotype, molecular basis known;

Included titles and symbols : Developmental delay, epilepsy, and neonatal diabetes 1; DEND1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium channel, inwardly rectifying, subfamily J, member 11 gene (KCNJ11, 600937.0002);

Laboratory abnormalities : Low serum C-peptide; Ketoacidosis; Hyperglycemia; Negative tyrosine phosphatase-related IA-2 autoantibodies; Negative islet cell autoantibodies; Negative glutamic acid decarboxylase autoantibodies; Negative insulin autoantibodies; Low glucagon-stimulated serum C-peptide;

Prefixed ID : #618856;

Détails

Origin ID

618856;

UMLS CUI

C5394296;

Genes related to phenotype
- Potassium channel, inwardly rectifying, subfamily j, member 11 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral ptosis [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Bilateral tonic-clonic seizure with focal onset [HPO term]
- Downturned corners of mouth [HPO term]
- Flexion contracture [HPO term]
- Global developmental delay [HPO term]
- Hyperglycemia [HPO term]
- Hypsarrhythmia [HPO term]
- Ketoacidosis [HPO term]
- Myoclonic seizure [HPO term]
- Prominent metopic ridge [HPO term]
- Reduced C-peptide level [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]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients