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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:0001251 | Ataxia |
| HP:0010864 | Intellectual disability, severe |
| HP:0001627 | Abnormal heart morphology |
| HP:0012758 | Neurodevelopmental delay |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0001270 | Motor delay |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0000124 | Renal tubular dysfunction |
| HP:0002186 | Apraxia |
| HP:0000488 | Retinopathy |
