3-Hydroxyacyl-Coa Dehydrogenase Deficiency disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
²¹Genetics Home Reference, ⁶³Wikipedia, ⁴⁶OMIM, ³²MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard

Genetics Home Reference:²¹ 3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting).

MalaCards: 3-Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as schad deficiency, is related to hyperinsulinemic hypoglycemia and hypoglycemia. An important gene associated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency is HADH (hydroxyacyl-CoA dehydrogenase), and among its related pathways are Ketone body metabolism and Biosynthesis of unsaturated fatty acids. The compounds (S)-Hydroxyoctanoyl-CoA and (S)-Hydroxyhexanoyl-CoA have been mentioned in the context of this disorder. Related mouse phenotypes are renal/urinary system and liver/biliary system.

Wikipedia:⁶³ 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADH deficiency) is a rare condition that prevents... more...

Description from OMIM:⁴⁶ 231530,609975

Aliases & Classifications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
²¹Genetics Home Reference, ⁴⁸Orphanet, ⁴⁶OMIM, ⁵⁷SNOMED-CT via Orphanet, ²⁶ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Endocrine diseases

ICD10: ²⁶

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

Disorders of fatty-acid metabolism

Characteristics (Orphanet epidemiological data):

⁴⁸

3-hydroxyacyl-coa dehydrogenase deficiency:

schad deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy

Aliases & Descriptions:

3-hydroxyacyl-coa dehydrogenase deficiency ²¹ ⁴⁶ ⁴⁸

schad deficiency ²¹ ⁴⁸

hadh deficiency ²¹ ⁴⁸

hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency ⁴⁸

hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency ⁴⁸

l-3-alpha-hydroxyacyl-coa dehydrogenase, short chain, deficiency ²¹

3-alpha-hydroxyacyl-coenzyme a dehydrogenase deficiency ²¹

hyperinsulinism due to glutamodehydrogenase deficiency ⁴⁸

3-hydroxyacyl-coenzyme a dehydrogenase deficiency ²¹

deficiency of 3-hydroxyacyl-coa dehydrogenase ²¹

hyperinsulinism due to schad deficiency ⁴⁸

hyperinsulinism due to hadh deficiency ⁴⁸

m/schad deficiency ²¹

hadhsc deficiency ²¹

had deficiency ²¹

External Ids:

SNOMED-CT via Orphanet⁵⁷ 124122005

ICD10 via Orphanet²⁶ E71.3

OMIM⁴⁶ 231530, 609975

Related Diseases for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
See all sources

Diseases related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 45)

id	Related Disease	Score	Top Affiliating Genes
1	hyperinsulinemic hypoglycemia	30.7	INS, GLUD1, HADH, GCK
2	hypoglycemia	30.7	GCK, HADH, HADHA, GLUD1, INS, ACADVL
3	hyperinsulinism	30.7	GCK, MTTP, GLUD1, INS
4	liver cirrhosis	30.5	GCK
5	lchad deficiency	10.6
6	hyperinsulinism due to glutamodehydrogenase deficiency	10.6
7	hypoparathyroidism	10.4
8	choroiditis	10.3
9	alpha chain disease	10.3
10	cataract	10.3
11	cholestasis	10.3
12	dilated cardiomyopathy	10.3
13	liver disease	10.3
14	retinitis	10.3
15	developmental disabilities	10.3
16	3-alpha hydroxyacyl-coa dehydrogenase deficiency	10.3
17	17-beta-hydroxysteroid dehydrogenase x deficiency	10.3
18	3-hydroxyacyl-coenzyme a dehydrogenase deficiency	10.3
19	maple syrup urine disease	10.0	HADHA
20	galactosemia	10.0	INS
21	acute myocardial infarction	10.0	HADHA
22	hypothyroidism	10.0	INS
23	hellp syndrome	10.0	HADHA
24	medium-chain acyl-coenzyme a dehydrogenase deficiency	10.0	ACADVL, HADHA
25	sudden infant death syndrome	10.0	HADHA, ACADVL
26	hyperinsulinism-hyperammonemia syndrome	10.0	GLUD1
27	abetalipoproteinemia	10.0	HADHA, MTTP
28	hepatitis	10.0	GLUD1
29	sudden cardiac death multi-gene panels	10.0	ACADVL, HADHA
30	rhyns syndrome	10.0	HADHA, MTTP
31	permanent neonatal diabetes mellitus	10.0	INS, GCK
32	neonatal diabetes mellitus	10.0	INS, GCK
33	type 1 diabetes	10.0	GCK, INS
34	myopathy	10.0	ACADVL, INS, HADHA
35	gestational diabetes	10.0	INS, GCK
36	retinal disease	10.0	INS, MTTP, HADHA
37	hyperuricemia	10.0	INS, GCK
38	hyperammonemia multi-gene panels	10.0	GCK, GLUD1
39	insulin resistance	10.0	GCK, MTTP, INS
40	type 2 diabetes mellitus	10.0	INS, MTTP, GCK
41	familial hyperinsulinism	10.0	GLUD1, HADH, GCK
42	glucose intolerance	10.0	INS, GCK
43	insulinoma	10.0	INS, GLUD1, GCK
44	fatty liver disease	10.0	HADHA, MTTP, GLUD1, INS, ACADVL
45	metabolic syndrome x	10.0	GCK, HADHA, GLUD1, INS, ACADVL

Graphical network of the top 20 diseases related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

Clinical Features for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
⁴⁶OMIM
See all sources

Clinical features from OMIM:

231530,609975

Clinical synopsis from OMIM:

231530

Drugs & Therapeutics for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Drug clinical trials:

Search ClinicalTrials for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Search NIH Clinical Center for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Search CenterWatch for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Genetic Tests for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Anatomical Context for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Animal Models for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency or affiliated genes

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system phenotype	MP:0005367	8.6	INS, HADHA, HADH, GCK
2	liver/biliary system phenotype	MP:0005370	7.7	GCK, HADHA, MTTP, INS, ACADVL
3	growth/size phenotype	MP:0005378	6.8	ACADVL, GCK, HADH, HADHA, MTTP, GLUD1
4	homeostasis/metabolism phenotype	MP:0005376	6.7	GCK, HADH, HADHA, MTTP, GLUD1, INS

Publications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Genes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc., ⁴⁸Orphanet, ⁶²UniProtKB/Swiss-Prot
See all sources

Genes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

id	Symbol	Description	Score	Implication
1	HADH	hydroxyacyl-CoA dehydrogenase	21.48	Causative germline mutation ⁴⁸ Causative variation ⁶² GeneCards inferred : Publications, Disorders (show sections)
2	HADHA	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	18.98	GeneCards inferred : Publications, Disorders (show sections)
3	HSD17B10	hydroxysteroid (17-beta) dehydrogenase 10	16.48	GeneCards inferred : Publications, Disorders (show sections)
4	ACADVL	acyl-CoA dehydrogenase, very long chain	13.98	GeneCards inferred : Publications, Disorders (show sections)
5	MTTP	microsomal triglyceride transfer protein	11.48	GeneCards inferred : Publications, Disorders (show sections)
6	GCK	glucokinase (hexokinase 4)	8.98	GeneCards inferred : Publications, Disorders (show sections)
7	GLUD1	glutamate dehydrogenase 1	6.48	GeneCards inferred : Publications, Disorders (show sections)
8	INS	insulin	3.98	GeneCards inferred : Publications, Disorders (show sections)

Products for genes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	8	8	8
2	LSBio	-	-	8

Genetic Variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
⁶²UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

⁶²

id	Symbol	AA change	Variation ID	SNP ID
1	HADH	p.Ala40Thr	VAR_024079
2	HADH	p.Asp57Glu	VAR_024080

Expression for genes affiliated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
¹BioGPS, ¹⁵Gene Expression Omnibus DataSets
See all sources

Expression patterns in normal tissues for genes affiliated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Search GEO for disease gene expression data for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency.

Pathways for genes affiliated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
⁵³Reactome, ²⁹KEGG, ³⁷NCBI BioSystems Database, ⁴⁹PharmGKB
See all sources

Pathways related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 13)

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Ketone body metabolism⁵³ Hide members Butanoate metabolism²⁹	9.8	HADH, HADHA
2	Biosynthesis of unsaturated fatty acids²⁹ Hide members Fatty acid elongation²⁹	9.8	HADHA, HADH
3	Lysine degradation²⁹	9.8	HADHA, HADH
4	fatty acid activation³⁷ Hide members fatty acid beta-oxidation I³⁷	9.3	HSD17B10, HADH, HADHA
5	Tryptophan metabolism³⁷ Hide members Tryptophan metabolism²⁹	9.3	HSD17B10, HADH, HADHA
6	Branched-chain amino acid catabolism⁵³ Hide members Propanoate metabolism²⁹ isoleucine degradation I³⁷ Valine, leucine and isoleucine degradation²⁹ valine degradation I³⁷	9.3	HSD17B10, HADH, HADHA
7	Regulation of beta-cell development⁵³ Hide members Regulation of gene expression in beta cells⁵³ Maturity onset diabetes of the young²⁹	9.3	INS, GCK
8	Type II diabetes mellitus²⁹ Hide members Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics⁴⁹	9.3	INS, GCK
9	Fatty Acid Beta Oxidation³⁷ Hide members Fatty acid degradation²⁹ Mitochondrial LC-Fatty Acid Beta-Oxidation³⁷	9.3	HADH, HADHA, ACADVL
10	Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)⁵³ Hide members Fatty acid, triacylglycerol, and ketone body metabolism⁵³	9.3	ACADVL, HADHA, HADH
11	Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA⁵³ Hide members mitochondrial fatty acid beta-oxidation of saturated fatty acids⁵³ Mitochondrial Fatty Acid Beta-Oxidation⁵³ Beta oxidation of myristoyl-CoA to lauroyl-CoA⁵³ Beta oxidation of hexanoyl-CoA to butanoyl-CoA⁵³ Beta oxidation of octanoyl-CoA to hexanoyl-CoA⁵³ Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA⁵³ mitochondrial fatty acid beta-oxidation of unsaturated fatty acids⁵³ Beta oxidation of palmitoyl-CoA to myristoyl-CoA⁵³ Beta oxidation of butanoyl-CoA to acetyl-CoA⁵³	9.3	ACADVL, HADHA, HADH
12	FOXA2 and FOXA3 transcription factor networks³⁷	8.5	ACADVL, INS, HADH, GCK
13	Metabolism⁵³ Hide members Metabolic pathways²⁹ Metabolism of lipids and lipoproteins⁵³	7.4	HSD17B10, GCK, HADH, HADHA, MTTP, GLUD1

Compounds for genes affiliated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
²⁴HMDB, ⁴⁴Novoseek, ¹¹DrugBank, ⁴⁹PharmGKB, ²⁸IUPHAR, ⁵⁹Tocris Bioscience
See all sources

Compounds related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show top 50) (show all 51)

id	Compound	Score	Top Affiliating Genes
1	(S)-Hydroxyoctanoyl-CoA²⁴	10.1	HADH, HADHA
2	(S)-Hydroxyhexanoyl-CoA²⁴	10.1	HADH, HADHA
3	(S)-Hydroxydecanoyl-CoA²⁴	10.1	HADH, HADHA
4	(S)-3-Hydroxytetradecanoyl-CoA²⁴	10.1	HADH, HADHA
5	(S)-3-Hydroxydodecanoyl-CoA²⁴	10.1	HADH, HADHA
6	(S)-3-hydroxypalmitoleoyl-CoA²⁴	10.1	HSD17B10, HADH
7	(S)-3-Hydroxyhexadecanoyl-CoA²⁴	10.1	HADHA, HADH
8	acetyl-l-carnitine⁴⁴	9.9	HADHA, ACADVL
9	(3S)-3-Hydroxyadipyl-CoA²⁴	9.8	HSD17B10, HADH, HADHA
10	2-methyl-3-hydroxybutyryl-coa⁴⁴ ²⁴	10.8	HSD17B10, HADH, HADHA
11	chromium picolinate⁴⁴	9.7	GCK, INS
12	nash⁴⁴	9.7	INS, MTTP
13	ezetimibe⁴⁴ ¹¹	10.7	INS, MTTP
14	preproinsulin⁴⁴	9.7	GCK, INS
15	niacin⁴⁴ ¹¹	10.7	MTTP, INS
16	i-app⁴⁴	9.7	INS, GCK
17	incretin⁴⁴	9.6	GCK, INS
18	aicar⁴⁴ ¹¹ ²⁴	11.5	INS, GCK
19	streptozotocin⁴⁴	9.5	INS, GCK
20	palmitate⁴⁴	9.5	ACADVL, INS, HADHA
21	fructose⁴⁴ ¹¹	10.4	MTTP, GCK
22	beta-hydroxybutyrate⁴⁴	9.4	GLUD1, INS
23	alpha-ketoisocaproate⁴⁴	9.4	GCK, GLUD1
24	Nicotinamide-Adenine-Dinucleotide¹¹	9.3	HSD17B10, HADH, GLUD1
25	nad+⁴⁴	9.2	HSD17B10, HADH, GLUD1
26	olanzapine⁴⁹ ⁴⁴ ²⁸ ¹¹ ²⁴	13.2	GLUD1, INS
27	glycerol 3-phosphate⁴⁴ ²⁴	10.2	GCK, GLUD1
28	isoleucine⁴⁴	9.1	GLUD1, HSD17B10
29	malate⁴⁴	9.0	GLUD1, GCK
30	sulfonylurea⁴⁴	8.9	INS, GLUD1, GCK
31	nad²⁸ ²⁴	9.9	GLUD1, HADHA, HADH, HSD17B10
32	tolbutamide⁴⁴ ⁴⁹ ²⁸ ¹¹	11.9	INS, GLUD1, GCK
33	pyruvate⁴⁴	8.9	GLUD1, HADHA, GCK
34	glycerol⁴⁴ ¹¹ ²⁴	10.8	GCK, GLUD1, INS
35	phosphoenolpyruvate⁴⁴ ¹¹	9.7	GCK, GLUD1
36	citrate⁴⁴	8.7	HSD17B10, GCK, HADHA, GLUD1
37	glutamine⁴⁴	8.7	GLUD1, HADHA, GCK
38	acetyl-coa⁴⁴ ²⁴	9.6	GCK, HADHA, GLUD1, ACADVL
39	katp⁴⁴	8.6	INS, GLUD1, HADH, GCK
40	diazoxide⁴⁴ ⁵⁹ ²⁸ ¹¹	11.6	GCK, HADH, GLUD1, INS
41	lactate⁴⁴	8.5	INS, GLUD1, HADHA, GCK
42	nadh⁴⁴ ¹¹ ²⁴	10.3	HSD17B10, GCK, HADH, HADHA, GLUD1
43	creatinine⁴⁴	8.1	ACADVL, INS, GLUD1, HADHA, GCK
44	alanine⁴⁴	8.0	GCK, HADHA, MTTP, GLUD1, INS
45	acyl-coa⁴⁴	8.0	HSD17B10, HADH, HADHA, MTTP, GLUD1, ACADVL
46	lipid⁴⁴	8.0	HSD17B10, GCK, HADHA, MTTP, INS, ACADVL
47	carnitine⁴⁴	7.9	HADH, HADHA, MTTP, GLUD1, INS, ACADVL
48	glutamate⁴⁴	7.8	HSD17B10, GCK, HADH, HADHA, GLUD1, INS
49	glucose⁴⁴	7.3	GCK, HADH, HADHA, MTTP, GLUD1, INS
50	fatty acid⁴⁴	6.9	ACADVL, HSD17B10, GCK, HADH, HADHA, MTTP

GO Terms for genes affiliated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
¹⁶Gene Ontology
See all sources

Cellular components related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial nucleoid	GO:042645	9.3	ACADVL, HADHA
2	mitochondrial inner membrane	GO:005743	9.2	ACADVL, HADHA, HSD17B10
3	mitochondrial matrix	GO:005759	8.3	HSD17B10, HADH, GLUD1, ACADVL
4	mitochondrion	GO:005739	7.4	ACADVL, GLUD1, HADHA, HADH, GCK, HSD17B10

Biological processes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of gluconeogenesis	GO:045721	9.5	INS, GCK
2	fatty acid beta-oxidation	GO:006635	9.5	ACADVL, HADHA, HADH
3	positive regulation of glycolysis	GO:045821	9.4	GCK, INS
4	positive regulation of glycogen biosynthetic process	GO:045725	9.4	INS, GCK
5	glucose transport	GO:015758	9.3	INS, GCK
6	cellular lipid metabolic process	GO:044255	9.3	ACADVL, HADHA, HADH
7	endocrine pancreas development	GO:031018	9.0	INS, GCK
8	positive regulation of insulin secretion	GO:032024	8.9	GCK, GLUD1
9	small molecule metabolic process	GO:044281	6.6	ACADVL, HSD17B10, GCK, HADH, HADHA, MTTP