Details of Disease

General Information of Disease (ID: DIS291OS)

Disease Name Diabetes mellitus, transient neonatal, 3
Synonyms
Tndm3; diabetes mellitus, type II, autosomal dominant; diabetes mellitus, transient neonatal, 3; transient neonatal diabetes mellitus (disease) caused by mutation in KCNJ11; diabetes mellitus, transient neonatal 3; diabetes mellitus, transient neonatal, type 3; KCNJ11 transient neonatal diabetes mellitus (disease)
Definition Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.
Disease Hierarchy
DIST826V: Transient neonatal diabetes mellitus
DIS291OS: Diabetes mellitus, transient neonatal, 3
Disease Identifiers
MONDO ID
MONDO_0012522
MESH ID
C566432
UMLS CUI
C1864623
OMIM ID
610582
MedGen ID
351177
SNOMED CT ID
609581006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ABCC8 TTP835K Strong Biomarker [1]
KCNJ11 TT329V4 Strong Genetic Variation [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
KCNJ11 DTGZICY Definitive Autosomal dominant [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCNJ11 OTPUUELV Definitive Autosomal dominant [3]
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References

1 Sur1 knockout mice. A model for K(ATP) channel-independent regulation of insulin secretion.J Biol Chem. 2000 Mar 31;275(13):9270-7. doi: 10.1074/jbc.275.13.9270.
2 Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.Pediatr Diabetes. 2016 May;17(3):227-34. doi: 10.1111/pedi.12254. Epub 2015 Feb 2.
3 Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet. 1996 Nov;5(11):1809-12. doi: 10.1093/hmg/5.11.1809.