Details of Disease

General Information of Disease (ID: DISO3TTI)

Disease Name Hyperinsulinism due to HNF1A deficiency
Synonyms hyperinsulinemic hypoglycemia due to HNF1A deficiency
Definition
Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.
Disease Hierarchy
DISOEYSO: Diazoxide-sensitive diffuse hyperinsulinism
DISO3TTI: Hyperinsulinism due to HNF1A deficiency
Disease Identifiers
MONDO ID
MONDO_0017935
UMLS CUI
C4303475
MedGen ID
929144
Orphanet ID
324575
SNOMED CT ID
721234004

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
HNF1A TT01M3K Supportive Autosomal dominant [1]
HNF1A TT01M3K moderate 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
HNF1A OT9DOUKL Supportive Autosomal dominant [1]
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References

1 Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. J Clin Endocrinol Metab. 2012 Oct;97(10):E2026-30. doi: 10.1210/jc.2012-1356. Epub 2012 Jul 16.
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.