permanent neonatal diabetes mellitus
Information
- Disease name
- permanent neonatal diabetes mellitus
- Disease ID
- DOID:0060639
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17213273]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02624817 | Completed | Phase 4 | Long-Term Sulfonylurea Response in KCNJ11 Neonatal Diabetes | December 2015 | August 2016 |
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 | |
| NCT02624830 | Unknown status | Phase 4 | Long-Term Sulfonylurea Response in ABCC8 Neonatal Diabetes (SuResponsSUR) | February 15, 2019 | February 2020 |
- Disase is a (Disease Ontology)
- DOID:11717
- Cross Reference ID (Disease Ontology)
- GARD:10457
- Cross Reference ID (Disease Ontology)
- MIM:606176
- Exact Synonym (Disease Ontology)
- PDMI
- Exact Synonym (Disease Ontology)
- permanent diabetes mellitus of infancy
- Exact Synonym (Disease Ontology)
- PNDM
- OrphaNumber from OrphaNet (Orphanet)
- 99885
- MedGen concept unique identifier (MedGen Concept name)
- C1833104
- MedGen unique identifier (MedGen Concept name)
- 371484