Details of Disease

General Information of Disease (ID: DIS9AGCD)

Disease Name Type 1 diabetes mellitus 10
Synonyms
diabetes, mellitus, insulin-dependent, susceptibility to, 10; diabetes mellitus, insulin-dependent, 10; diabetes mellitus, insulin-dependent, type 10; type 1 diabetes mellitus caused by mutation in IL2RA; IDDM10; IL2RA type 1 diabetes mellitus; insulin-dependent diabetes mellitus 10
Definition An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene.
Disease Hierarchy
DISHDFZF: Diabetes mellitus, insulin-dependent, X-linked, susceptibility to
DIS98MYE: Inherited disease susceptibility
DIS9AGCD: Type 1 diabetes mellitus 10
Disease Identifiers
MONDO ID
MONDO_0011168
MESH ID
C566602
UMLS CUI
C1866040
OMIM ID
601942
MedGen ID
400903

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
IL2RA TT10Y9E Strong Autosomal recessive [1]
IL2RA TT10Y9E Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IL2RA OT0MWCHG Strong Autosomal recessive [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 CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. J Allergy Clin Immunol. 2007 Feb;119(2):482-7. doi: 10.1016/j.jaci.2006.10.007. Epub 2006 Dec 27.