Details of Disease

General Information of Disease (ID: DISAHTZ7)

Disease Name Type 1 diabetes mellitus 2
Synonyms
diabetes mellitus, insulin-dependent, 2; diabetes mellitus, insulin-dependent, type 2; insulin-dependent diabetes mellitus 2; INS type 1 diabetes mellitus; type 1 diabetes mellitus caused by mutation in INS; IDDM2
Definition An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene.
Disease Hierarchy
DISHDFZF: Diabetes mellitus, insulin-dependent, X-linked, susceptibility to
DIS98MYE: Inherited disease susceptibility
DISAHTZ7: Type 1 diabetes mellitus 2
Disease Identifiers
MONDO ID
MONDO_0007454
UMLS CUI
C1852092
OMIM ID
125852
MedGen ID
377588

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
INS TTZOPHG Strong Autosomal dominant [1]
INS TTZOPHG Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
INS OTZ85PDU Strong Autosomal dominant [1]
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References

1 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.
2 Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.Diabetes. 2008 Apr;57(4):1131-5. doi: 10.2337/db07-1467. Epub 2008 Jan 11.