Details of Disease

General Information of Disease (ID: DIS8A8YY)

Disease Name Hyperinsulinemic hypoglycemia, familial, 4
Synonyms
had deficiency; 3-hydroxyacyl-Coenzyme A dehydrogenase deficiency; 3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency; L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency; SCHAD deficiency; 3-alpha hydroxyacyl-CoA dehydrogenase deficiency; SCHAD deficiency, formerly; medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency; HADH deficiency; M/SCHAD; 3-hydroxylacyl-CoA dehydrogenase deficiency; M-SCHAD deficiency; HHF4; HADHSC deficiency; 3-hydroxyacyl-CoA dehydrogenase deficiency; hyperinsulinism due to glutamodehydrogenase deficiency; hyperinsulinemic hypoglycemia, familial, type 4; hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency; HADH hyperinsulinemic hypoglycemia (disease); hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; hyperinsulinism due to SCHAD deficiency; hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; hyperinsulinemic hypoglycemia, familial, 4; hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH; hyperinsulinemic hypoglycemia due to HADH deficiency
Definition Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene.
Disease Hierarchy
DISOEYSO: Diazoxide-sensitive diffuse hyperinsulinism
DIS3KP5D: Hyperinsulinemic hypoglycemia
DIS8A8YY: Hyperinsulinemic hypoglycemia, familial, 4
Disease Identifiers
MONDO ID
MONDO_0012382
MESH ID
C566493
UMLS CUI
C1864948
OMIM ID
609975
MedGen ID
400646
Orphanet ID
71212

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HADH OTJDOL20 Strong Autosomal recessive [1]
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References

1 A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):144-7. doi: 10.4274/jcrpe.1963.