Details of Disease

General Information of Disease (ID: DIS7X7T1)

Disease Name Type 1 diabetes mellitus 20
Synonyms
diabetes mellitus, insulin-dependent, 20; insulin-dependent diabetes mellitus 20; diabetes mellitus, insulin-dependent, type 20; type 1 diabetes mellitus caused by mutation in HNF1A; HNF1A type 1 diabetes mellitus; IDDM20
Definition An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene.
Disease Hierarchy
DISHDFZF: Diabetes mellitus, insulin-dependent, X-linked, susceptibility to
DIS98MYE: Inherited disease susceptibility
DIS7X7T1: Type 1 diabetes mellitus 20
Disease Identifiers
MONDO ID
MONDO_0012919
MESH ID
C567286
UMLS CUI
C2675866
OMIM ID
612520
MedGen ID
382706

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
HNF1A TT01M3K Strong Genetic Variation [1]
HNF1A TT01M3K Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HNF1A OT9DOUKL Definitive Autosomal dominant [2]
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References

1 Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization.Diabetologia. 1999 May;42(5):621-6. doi: 10.1007/s001250051204.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.