Details of Disease

General Information of Disease (ID: DISZ33Q6)

Disease Name Hypoinsulinemic hypoglycemia and body hemihypertrophy
Synonyms hypoinsulinemic hypoglycemia with hemihypertrophy; HIHGHH
Disease Hierarchy
DISRGY2N: Endocrine disease
DISYKSRF: Genetic disease
DISHK54G: Overgrowth syndrome
DISZ33Q6: Hypoinsulinemic hypoglycemia and body hemihypertrophy
Disease Identifiers
MONDO ID
MONDO_0009416
UMLS CUI
C3278384
OMIM ID
240900
MedGen ID
480014
Orphanet ID
293964

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
AKT2 TTH24WI Limited Biomarker [1]
AKT2 TTH24WI Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AKT2 OTBB632K Definitive Autosomal dominant [2]
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References

1 Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.J Mol Diagn. 2017 Jul;19(4):487-497. doi: 10.1016/j.jmoldx.2017.04.001. Epub 2017 May 11.
2 An activating mutation of AKT2 and human hypoglycemia. Science. 2011 Oct 28;334(6055):474. doi: 10.1126/science.1210878. Epub 2011 Oct 6.