Details of Disease

General Information of Disease (ID: DISP424Q)

Disease Name Abdominal obesity-metabolic syndrome 3
Synonyms
AOMS3; central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease; DYRK1B metabolic syndrome; abdominal obesity-metabolic syndrome 3; metabolic syndrome caused by mutation in DYRK1B; abdominal obesity-metabolic syndrome type 3
Definition Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene.
Disease Hierarchy
DISPSIVN: Abdominal obesity-metabolic syndrome
DISP424Q: Abdominal obesity-metabolic syndrome 3
Disease Identifiers
MONDO ID
MONDO_0014352
UMLS CUI
C4014361
OMIM ID
615812
MedGen ID
862798

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
DYRK1B TTYGQ8A Strong Autosomal dominant [1]
DYRK1B TTYGQ8A 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
DYRK1B OTO7O3CU 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 A form of the metabolic syndrome associated with mutations in DYRK1B. N Engl J Med. 2014 May 15;370(20):1909-1919. doi: 10.1056/NEJMoa1301824.