HADH

Chr 4AR

hydroxyacyl-CoA dehydrogenase

Also known as: HAD, HADH1, HADHSC, HCDH, HHF4, MSCHAD, SCHAD

NCBI Gene: 3033ENSG00000138796UniProt: Q16836OMIM: 601609

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

3-hydroxyacyl-CoA dehydrogenase deficiencyMIM #231530
AR
Hyperinsulinemic hypoglycemia, familial, 4MIM #609975
AR
UniProt3-alpha-hydroxyacyl-CoA dehydrogenase deficiency

Clinical highlights

Gene-disease validity (ClinGen)
obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
49
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.00
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.00LOEUF
pLI 0.000
Z-score 1.57
OE 0.57 (0.34–1.00)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.53Z-score
OE missense 0.89 (0.78–1.01)
163 obs / 183.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.34–1.00)
0≤0.351.4
Missense OE?0.89 (0.78–1.01)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 9 / 15.7Missense obs/exp: 163 / 183.1Syn Z: -0.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HADH · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients