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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
permanent neonatal diabetes mellitus
Summary
- Synonym
-
- PDMI
- PNDM
- permanent diabetes mellitus of infancy
- 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.
- Super Class
- autosomal dominant disease autosomal recessive disease neonatal diabetes
External Links
- Disease Ontology
- DOID:0060639
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11168 | Solute carrier family 2, facilitated glucose transporter member 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0002714 | Downturned corners of mouth |
| HP:0006274 | Reduced pancreatic beta cells |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001518 | Small for gestational age |
| HP:0000819 | Diabetes mellitus |
| HP:0100651 | Type I diabetes mellitus |
| HP:0000007 | Autosomal recessive inheritance |
