Details of Disease

General Information of Disease (ID: DISSQ05S)

Disease Name Hyperproinsulinemia
Synonyms hyperproinsulinemia
Disease Hierarchy
DISYKSRF: Genetic disease
DISSQ05S: Hyperproinsulinemia
Disease Identifiers
MONDO ID
MONDO_0014535
MESH ID
C562776
UMLS CUI
C0342283
OMIM ID
616214
MedGen ID
137967
SNOMED CT ID
237613005

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
CPE TTXPWO6 Strong Altered Expression [1]
INS TTZOPHG Strong Autosomal dominant [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
INS OTZ85PDU Strong Autosomal dominant [2]
NEUROG3 OT6DIPWC Strong Genetic Variation [3]
OGT OT1Z1ZXE Strong Altered Expression [1]
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References

1 eIF4G1 and carboxypeptidase E axis dysregulation in O-GlcNAc transferase-deficient pancreatic -cells contributes to hyperproinsulinemia in mice.J Biol Chem. 2019 Aug 30;294(35):13040-13050. doi: 10.1074/jbc.RA119.008670. Epub 2019 Jul 12.
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.
3 Genetic variation of Neurogenin 3 is slightly associated with hyperproinsulinaemia and progression toward type 2 diabetes.Exp Clin Endocrinol Diabetes. 2008 Mar;116(3):178-83. doi: 10.1055/s-2007-992156. Epub 2007 Oct 12.