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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Metabolism, Inborn Errors (D008661)
..Starting node ..3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310)
..3-Methylglutaconic Aciduria (C579867)
..3-Methylglutaconic Aciduria Type IV (C565393)
..3-Methylglutaconic Aciduria, Type I (C562801)
..3-Methylglutaconic Aciduria, Type V (C565706)
..5-Nucleotidase syndrome (C535321)
..6-Phosphogluconolactonase Deficiency (C566803)
..Acetylcarnitine deficiency (C536006)
..Acholinesterasemia (C566750)
..Acid Phosphatase Deficiency (C562645)
..Adenine phosphoribosyltransferase deficiency (C538228)
..AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (OMIM:608688)
..alpha-Fetoprotein Deficiency (C566300)
..Amino Acid Metabolism, Inborn Errors (D000592) 169
..Amino Acid Transport Disorders, Inborn (D020157) 3
..Amobarbital, Deficient N-Hydroxylation of (C565959)
..Amyloidosis, Familial (D028226) 13
..Arene Oxide Detoxification Defect (C565043)
..Aromatase deficiency (C537436)
..Aryl Hydrocarbon Hydroxylase Inducibility (C566250)
..BISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800)
..Brain Diseases, Metabolic, Inborn (D020739) 218
..Butyrylcholinesterase deficiency (C537417)
..Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751)
..Carbohydrate Metabolism, Inborn Errors (D002239) 169
..Carnitine Acetyltransferase Deficiency (C563249)
..Carnitine palmitoyl transferase 2 deficiency (C535589)
..Chromate Resistance (C566125)
..COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
..Combined Malonic and Methylmalonic Aciduria (C580002)
..Combined Oxidative Phosphorylation Deficiency 1 (C563797)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
..Congenital chloride diarrhea (C536210)
..Copper deficiency, familial benign (C535468)
..Costeff optic atrophy syndrome (C535311)
..Coumarin Resistance (C563039)
..Coumarin Sensitivity (C567276)
..CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
..Cytochrome-c Oxidase Deficiency (D030401) 2
..Deafness hyperuricemia neurologic ataxia (C535995)
..Deoxyribose-5-Phosphate Aldolase Deficiency (C565112)
..Diarrhea 3, Secretory Sodium, Congenital (C562576)
..Diarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490)
..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..Dihydropyrimidinase Deficiency (C562815)
..Diphenylhydantoin, Defect in Hydroxylation of (C565044)
..Drug Metabolism, Poor, CYP2C19-Related (C563703)
..Drug Metabolism, Poor, CYP2D6-Related (C563835)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Enterokinase Deficiency (C562649)
..Ethanolaminosis (C562651)
..Familial gynecomastia, due to increased aromatase activity (C000591739)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Fumaric aciduria (C538191)
..Glucocorticoid Receptor Deficiency (C564221)
..Glutamate formiminotransferase deficiency (C537425)
..Glycoprotein Storage Disease (C565538)
..Glyoxalase II Deficiency (C564215)
..Growth Factors, Combined Defect of (C565529)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
..Hyaluronan Metabolism, Defect in (C565742)
..Hyperbilirubinemia, Hereditary (D006933) 7
..Hypercalcemia, Idiopathic, of Infancy (C562581)
..HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
..Hypoadiponectinemia (C567258)
..Hypokalemia, Familial (C562654)
..Hypoproteinemia, Hypercatabolic (C565476)
..Inosine Triphosphatase Deficiency (C564127)
..Intrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461)
..Kallikrein, Decreased Urinary Activity of (C563653)
..L-Gulonolactone Oxidase, Nonfunctional (C565486)
..Lactate Dehydrogenase B Deficiency (C563641)
..Lactic Aciduria due to D-Lactic Acid (C565446)
..Leukotriene C4 Synthase Deficiency (C565439)
..Lipid Metabolism, Inborn Errors (D008052) 135
..LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
..Lysosomal Storage Diseases (D016464) 106
..Malonic aciduria (C535702)
..Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601)
..Mannose-Binding Protein Deficiency (C563602)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Metal Metabolism, Inborn Errors (D008664) 55
..Methemoglobin Reductase Deficiency (C563171)
..Methylcobalamin Deficiency, CblG Type (C565394)
..Methylmalonyl-Coenzyme A mutase deficiency (C537573)
..Mitochondrial Complex II Deficiency (C565375)
..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..Myeloperoxidase Deficiency (C562864)
..N acetyltransferase deficiency (C536107)
..Pancreatic Insufficiency, Combined Exocrine (C564907)
..Peroxisomal Disorders (D018901) 39
..Phenacetin O-Deethylase, Deficiency of (C565127)
..Phenol sulfotransferase deficiency (C537895)
..Phosphoglycerate Kinase 1 Deficiency (C567067)
..Porphyrias (D011164) 18
..Progeria (D011371) 11
..Proguanil, Poor Metabolism of (C563704)
..Purine-Pyrimidine Metabolism, Inborn Errors (D011686) 24
..Renal Tubular Transport, Inborn Errors (D015499) 76
..Retinol-Binding Protein Deficiency (C566711)
..Steroid Metabolism, Inborn Errors (D043202) 34
..Stomatocytosis I (C566111)
..Stomatocytosis II (C566110)
..Succinic Acidemia (C563952)
..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..Transcobalamin I Deficiency (C562798)
..Trimethylaminuria (C536561)
..Warfarin Sensitivity (C567080)
..Weinstein Kliman Scully syndrome (C536688)
..Wiedemann Oldigs Oppermann syndrome (C536705)
..Xanthinuria, Type I (C562584)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

Name:

3-Hydroxyacyl-CoA Dehydrogenase Deficiency

Definition:

Alternative IDs:

OMIM:231530

ParentIDs:

MESH:D008661

TreeNumbers:

C16.320.565/C535310 |C18.452.648/C535310

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C535310
MeSH: C535310
OMIM: 231530;

Genes: HADH;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003215	Dicarboxylic aciduria
3	HP:0001644	Dilated cardiomyopathy
4	HP:0008872	Feeding difficulties in infancy
5	HP:0004448	Fulminant hepatic failure
6	HP:0001290	Generalized hypotonia
7	HP:0001510	Growth delay
8	HP:0002605	Hepatic necrosis
9	HP:0001397	Hepatic steatosis
10	HP:0001639	Hypertrophic cardiomyopathy
11	HP:0006929	Hypoglycemic encephalopathy
12	HP:0002173	Hypoglycemic seizures
13	HP:0001985	Hypoketotic hypoglycemia
14	HP:0002913	Myoglobinuria
15	HP:0003812	Phenotypic variability

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_005327.4(HADH):c.118G>A (p.Ala40Thr)	3033	HADH	Pathogenic	137853101	RCV000008482;	N	MedGen:C1291230,OMIM:231530,ORPHA:309127,SNOMED CT:124122005	4	108911206	108911206	NM_005327.4:c.118G>A	NP_005318.3:p.Ala40Thr	NC_000004.11:g.108911206G>A	OMIM Allelic Variant:601609.0001	C1291230 231530 Deficiency of 3-hydroxyacyl-CoA dehydrogenase
NM_005327.4(HADH):c.171C>A (p.Asp57Glu)	3033	HADH	Pathogenic	137853102	RCV000008483;	N	MedGen:C1291230,OMIM:231530,ORPHA:309127,SNOMED CT:124122005	4	108930953	108930953	NM_005327.4:c.171C>A	NP_005318.3:p.Asp57Glu	NC_000004.11:g.108930953C>A	OMIM Allelic Variant:601609.0002	C1291230 231530 Deficiency of 3-hydroxyacyl-CoA dehydrogenase
NM_001184705.2(HADH):c.676T>C (p.Tyr226His)	3033	HADH	Likely pathogenic	146036912	RCV000194052;	N	MedGen:C1291230,OMIM:231530,ORPHA:309127,SNOMED CT:124122005	4	108948883	108948883	NM_001184705.2:c.676T>C	NP_001171634.2:p.Tyr226His	NC_000004.11:g.108948883T>C	-	C1291230 231530 Deficiency of 3-hydroxyacyl-CoA dehydrogenase