HADH Chromosome 4
Hydroxyacyl-CoA dehydrogenase
Upload your DNA to see your personal genotypes for variants in HADH.
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
4
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 |
|---|---|---|---|
| RS886058980 | Health Risk | Conflicting classifications of pathogenicity | Hyperinsulinemic hypoglycemia, familial, 4 |
| RS138521550 | Health Risk | Likely pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial |
| RS1735964758 | Health Risk | Likely pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS1736114396 | Health Risk | Likely pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS2126234552 | Health Risk | Likely pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS2477138010 | Health Risk | Likely pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS2477199629 | Health Risk | Likely pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS2477200274 | Health Risk | Likely pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS2477216764 | Health Risk | Likely pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS2477237481 | Health Risk | Likely pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS2477237537 | Health Risk | Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 4 |
| RS779135938 | Health Risk | Likely pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial |
| RS925062950 | Health Risk | Likely pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS137853101 | Health Risk | Likely risk allele | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS111951959 | Health Risk | Pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS1239277010 | Health Risk | Pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS137853103 | Health Risk | Pathogenic | Hyperinsulinemic hypoglycemia, familial, 4 |
| RS2126234459 | Health Risk | Pathogenic | Hyperinsulinemic hypoglycemia, familial, 4 |
| RS2477137510 | Health Risk | Pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS2477217032 | Health Risk | Pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS2477217602 | Health Risk | Pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS2477238123 | Health Risk | Pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS2477270617 | Health Risk | Pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS786200932 | Health Risk | Pathogenic | Hyperinsulinemic hypoglycemia, familial, 4 |
| RS1398546361 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial |
| RS1402140155 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS375717077 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 4 |
| RS745727504 | Health Risk | Pathogenic/Likely pathogenic/Likely risk allele | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial |
| RS1292646768 | Health Risk | Uncertain significance/Uncertain risk allele | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS137853102 | Health Risk | Uncertain significance/Uncertain risk allele | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, familial |
| RS150766162 | Health Risk | Uncertain significance/Uncertain risk allele | Hyperinsulinemic hypoglycemia, familial, 4 |
| RS1736337431 | Health Risk | Uncertain significance/Uncertain risk allele | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS374248298 | Health Risk | Uncertain significance/Uncertain risk allele | Monogenic diabetes, Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS376876153 | Health Risk | Uncertain significance/Uncertain risk allele | Hyperinsulinemic hypoglycemia, familial, 4 |
| RS377615662 | Health Risk | Uncertain significance/Uncertain risk allele | Monogenic diabetes, Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia |
| RS537335460 | Health Risk | Uncertain significance/Uncertain risk allele | Hyperinsulinemic hypoglycemia, familial, 4 |
| RS574132278 | Health Risk | Uncertain significance/Uncertain risk allele | Hyperinsulinemic hypoglycemia, Hyperinsulinemic hypoglycemia |
| RS577954688 | Health Risk | Uncertain significance/Uncertain risk allele | Hyperinsulinemic hypoglycemia, familial, 4 |
| RS768880930 | Health Risk | Uncertain significance/Uncertain risk allele | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |
| RS780252799 | Health Risk | Uncertain significance/Uncertain risk allele | Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase |