permanent neonatal diabetes mellitus

Term ID

DOID:0060639

Synonyms

PDMI
permanent diabetes mellitus of infancy
PNDM

Definition

A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. https://www.ncbi.nlm.nih.gov/pubmed/17213273

References

GARD:10457
MIM:606176

Ontology

Human Disease ( DOID:0060639 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease neonatal diabetes

autosomal dominant disease autosomal recessive disease neonatal diabetes Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models