Details of Disease

General Information of Disease (ID: DISF4UK5)

Disease Name Hyperinsulinism due to HNF4A deficiency
Synonyms hyperinsulinemic hypoglycemia due to HNF4A deficiency
Definition
Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1).
Disease Hierarchy
DISOEYSO: Diazoxide-sensitive diffuse hyperinsulinism
DISF4UK5: Hyperinsulinism due to HNF4A deficiency
Disease Identifiers
MONDO ID
MONDO_0016988
UMLS CUI
C4274078
MedGen ID
894506
Orphanet ID
263455
SNOMED CT ID
717048002

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
HNF4A TT2F3CD Supportive Autosomal dominant [1]
HNF4A TT2F3CD Strong GermlineCausalMutation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HNF4A OTY1TOAB Supportive Autosomal dominant [1]
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References

1 Congenital hyperinsulinism due to mutations in HNF4A and HADH. Rev Endocr Metab Disord. 2010 Sep;11(3):185-91. doi: 10.1007/s11154-010-9148-y.
2 Molecular mechanisms of congenital hyperinsulinism.J Mol Endocrinol. 2015 Apr;54(2):R119-29. doi: 10.1530/JME-15-0016. Epub 2015 Mar 2.