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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:0001944 | Dehydration |
| HP:0011106 | Hypovolemia |
| HP:0001259 | Coma |
| HP:0003074 | Hyperglycemia |
| HP:0000857 | Neonatal insulin-dependent diabetes mellitus |
| HP:0002594 | Pancreatic hypoplasia |
| HP:0005750 | Lower-limb joint contracture |
| HP:0001508 | Failure to thrive |
| HP:0000365 | Hearing impairment |
| HP:0002804 | Arthrogryposis multiplex congenita |
