HADH Chromosome 4

Hydroxyacyl-CoA dehydrogenase

90 variants 90 Health Risk

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What This Gene Does

This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]

Associated Conditions (9)

Monogenic diabetes

Deficiency of 3-hydroxyacyl-CoA dehydrogenase

Hyperinsulinemic hypoglycemia

familial

HADH-related disorder

Familial hyperinsulinism

Abnormal brain morphology

Inborn genetic diseases

Key Variants

RS1051519

Conflicting classifications of pathogenicity

Monogenic diabetes, Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia

Health Risk

RS1274785101

Conflicting classifications of pathogenicity

Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase

Health Risk

RS1290272212

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 4

Health Risk

RS140413151

Conflicting classifications of pathogenicity

Monogenic diabetes, Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia

Health Risk

RS144699575

Conflicting classifications of pathogenicity

Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Monogenic diabetes, Hyperinsulinemic hypoglycemia

Health Risk

RS146036912

Conflicting classifications of pathogenicity

Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial

Health Risk

RS146732064

Conflicting classifications of pathogenicity

Abnormal brain morphology, Abnormal brain morphology

Health Risk

RS148809781

Conflicting classifications of pathogenicity

Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial

Health Risk

RS148846625

Conflicting classifications of pathogenicity

Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial

Health Risk

RS150930917

Conflicting classifications of pathogenicity

Deficiency of 3-hydroxyacyl-CoA dehydrogenase, HADH-related disorder, Deficiency of 3-hydroxyacyl-CoA dehydrogenase

Health Risk

RS1735626197

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia

Health Risk

RS1735963864

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, Hyperinsulinemic hypoglycemia

Health Risk

All Variants (90)

RSID	Category	Clinical Significance	Conditions
RS1051519	Health Risk	Conflicting classifications of pathogenicity	Monogenic diabetes, Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS1274785101	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS1290272212	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 4
RS140413151	Health Risk	Conflicting classifications of pathogenicity	Monogenic diabetes, Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS144699575	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Monogenic diabetes, Hyperinsulinemic hypoglycemia
RS146036912	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial
RS146732064	Health Risk	Conflicting classifications of pathogenicity	Abnormal brain morphology, Abnormal brain morphology
RS148809781	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial
RS148846625	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial
RS150930917	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, HADH-related disorder, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS1735626197	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS1735963864	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, Hyperinsulinemic hypoglycemia
RS1736337186	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS1736344235	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 4
RS182097151	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial
RS183387994	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 4
RS183594888	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial
RS185267497	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 4
RS190144364	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial
RS201019894	Health Risk	Conflicting classifications of pathogenicity	Monogenic diabetes, Hyperinsulinemic hypoglycemia, Monogenic diabetes
RS201324954	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 4
RS201772964	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 4
RS36030668	Health Risk	Conflicting classifications of pathogenicity	Monogenic diabetes, Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS376591232	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial
RS377521547	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS3822294	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 4
RS528952923	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 4
RS529762487	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 4
RS532458283	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial
RS534966818	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 4
RS543440046	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS544321475	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial
RS550348868	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, Hyperinsulinemic hypoglycemia
RS550706321	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 4
RS560215584	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial
RS575378007	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS74428123	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, HADH-related disorder
RS746854470	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial
RS747476251	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS748286204	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial
RS748623569	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial
RS762771153	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS76476980	Health Risk	Conflicting classifications of pathogenicity	Monogenic diabetes, Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS766656997	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 4
RS770197760	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial
RS771071992	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS772843585	Health Risk	Conflicting classifications of pathogenicity	Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial
RS780532720	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 4
RS780574282	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 4
RS781319494	Health Risk	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 4

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