loading...| Preferred Name |
Diabetes Mellitus, Permanent Neonatal |
| Synonyms |
Diabetes Mellitus, Permanent, of Infancy |
| ID |
http://purl.bioontology.org/ontology/MESH/C563425 |
| altLabel |
Diabetes Mellitus, Permanent, of Infancy Permanent Neonatal Diabetes Mellitus |
| cui |
C1833104 |
| HM |
D003920 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20121105 |
| MeSH Frequency |
69 |
| MMR |
20150818 |
| notation |
C563425 |
| prefLabel |
Diabetes Mellitus, Permanent Neonatal |
| SC |
3 |
| Scope Statement |
A rare autosomal dominant genetically heterogeneous hereditary form of diabetes mellitus which is distinct from Type I diabetes mellitus and affected individuals present with insulin-requiring hyperglycemia within the first 3 months of life. About 50% of cases resolve by 3 months but may later develop type II diabetes. The cases that do not resolve develop permanent insulin-dependent diabetes and many also have neurologic and morphologic abnormalities. Mutations in the GCK, KCNJ11, ABCC8, and INS genes have been identified. OMIM: 606176 |
| TERMUI |
T827861 T842264 T802883 |
| TH |
OMIM (2013) GHR (2014) |
| tui |
T047 |