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

Summaries for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
²²Genetics Home Reference, ⁶⁴Wikipedia, ⁴⁶OMIM, ³²MalaCards
See all sources

Looking for an antibody for researching 3-hydroxyacyl-coa dehydrogenase deficiency?

HADH antibody
HADHA antibody
HSD17B10 antibody
ACADVL antibody
GLUD1 antibody
GCK antibody
MTTP antibody
INS antibody

Genetics Home Reference:²² 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 based summary: 3-Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as schad deficiency, is related to hyperinsulinemic hypoglycemia and hyperinsulinism, and has symptoms including autosomal recessive inheritance, muscular hypotonia and hepatic steatosis. An important gene associated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency is HADH (hydroxyacyl-CoA dehydrogenase), and among its related pathways are Biosynthesis of unsaturated fatty acids and Lysine degradation. The compounds 20-CoA-20-oxo-18R-hydroxyleucotriene B4 and (S)-Hydroxyoctanoyl-CoA have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and brain, and related mouse phenotypes are endocrine/exocrine gland and renal/urinary system.

Wikipedia:⁶⁴ 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADH deficiency) is a rare condition that prevents... more...

Descriptions from OMIM:⁴⁶ 231530,609975

Aliases & Classifications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
²²Genetics Home Reference, ⁴⁶OMIM, ⁴⁸Orphanet, ⁶¹UMLS, ²⁷ICD10 via Orphanet
See all sources

3-Hydroxyacyl-Coa Dehydrogenase Deficiency, Aliases & Descriptions:

Name: 3-Hydroxyacyl-Coa Dehydrogenase Deficiency ²² ⁴⁶ ⁶¹

Schad Deficiency ²² ⁴⁸ ⁶¹

Hadh Deficiency ²² ⁴⁸ ⁶¹

3-Alpha-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency ²² ⁶¹

3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency ²² ⁶¹

Deficiency of 3-Hydroxyacyl-Coa Dehydrogenase ²² ⁶¹

Hadhsc Deficiency ²² ⁶¹

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 ²²

Hyperinsulinism Due to Glutamodehydrogenase Deficiency ⁴⁸

Hyperinsulinism Due to Schad Deficiency ⁴⁸

Hyperinsulinism Due to Hadh Deficiency ⁴⁸

M/schad Deficiency ²²

M-Schad Deficiency ⁶¹

Had Deficiency ²²

Classifications:

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

ICD10: ²⁷

Endocrine, nutritional and metabolic diseases

Metabolic disorders

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

Disorders of fatty-acid metabolism

Orphanet: ⁴⁸

Rare neurological diseases

Inborn errors of metabolism

Rare endocrine diseases

Characteristics (Orphanet epidemiological data):

⁴⁸

schad deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5

External Ids:

OMIM⁴⁶ 231530, 609975

ICD10 via Orphanet²⁷ E71.3

Related Diseases for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

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

(show all 44)

id	Related Disease	Score	Top Affiliating Genes
1	hyperinsulinemic hypoglycemia	30.3	GCK, HADH, GLUD1, INS
2	hyperinsulinism	30.1	GCK, MTTP, INS, GLUD1
3	hypoglycemia	30.0	GLUD1, ACADVL, INS, HADHA, HADH, GCK
4	3-hydroxyacyl-coenzyme a dehydrogenase deficiency	11.1
5	lchad deficiency	10.7
6	hyperinsulinism due to glutamodehydrogenase deficiency	10.6
7	3-alpha hydroxyacyl-coa dehydrogenase deficiency	10.5
8	pigmentary retinopathy	10.5
9	fatty acid oxidation disorders	10.5
10	hypoparathyroidism	10.4
11	chorioretinitis	10.4
12	cardiogenic shock	10.4
13	cataract	10.4
14	dilated cardiomyopathy	10.4
15	liver cirrhosis	10.4
16	liver disease	10.4
17	choroiditis	10.4
18	cholestasis	10.4
19	retinitis	10.4
20	developmental disabilities	10.4
21	acute fatty liver of pregnancy	10.4
22	medium-chain acyl-coenzyme a dehydrogenase deficiency	10.3	ACADVL, HADHA
23	sudden infant death syndrome	10.2	ACADVL, HADHA
24	pyridoxine-refractory autosomal recessive sideroblastic anemia	10.2	GCK, HADHA
25	permanent neonatal diabetes mellitus	10.1	INS, GCK
26	neonatal diabetes mellitus	10.1	GCK, INS
27	maturity-onset diabetes of the young	10.1	GCK, INS
28	abetalipoproteinemia	10.1	MTTP, HADHA
29	hyperammonemia multi-gene panels	10.1	GCK, GLUD1
30	hyperuricemia	10.1	GCK, INS
31	type 1 diabetes mellitus	10.1	INS, GCK
32	gestational diabetes	10.0	GCK, INS
33	myopathy	10.0	ACADVL, HADHA, INS
34	familial hyperinsulinism	10.0	GLUD1, GCK, HADH
35	glucose intolerance	9.9	INS, GCK
36	fatty liver disease	9.9	MTTP, INS
37	insulinoma	9.9	GCK, GLUD1, INS
38	familial hyperlipidemia	9.9	MTTP, INS
39	hypertriglyceridemia	9.8	INS, MTTP
40	type 2 diabetes mellitus	9.7	INS, MTTP, GCK
41	insulin resistance	9.7	GCK, MTTP, INS
42	galactosemia	9.7	GLUD1, MTTP, INS, HADHA
43	obesity	9.6	GCK, MTTP, INS
44	metabolic syndrome x	9.6	GCK, GLUD1, ACADVL, HADHA, INS

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

Symptoms for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology
See all sources

Symptoms by clinical synopsis from OMIM:

231530

Clinical features from OMIM:

231530,609975

HPO human phenotypes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show all 15)

id	Description	HPO Source Accession
1	autosomal recessive inheritance	HP:0000007
2	muscular hypotonia	HP:0001252
3	hepatic steatosis	HP:0001397
4	growth delay	HP:0001510
5	hypertrophic cardiomyopathy	HP:0001639
6	dilated cardiomyopathy	HP:0001644
7	hypoketotic hypoglycemia	HP:0001985
8	hypoglycemic seizures	HP:0002173
9	hepatic necrosis	HP:0002605
10	myoglobinuria	HP:0002913
11	dicarboxylic aciduria	HP:0003215
12	phenotypic variability	HP:0003812
13	fulminant hepatic failure	HP:0004448
14	hypoglycemic encephalopathy	HP:0006929
15	feeding difficulties in infancy	HP:0008872

Drugs & Therapeutics for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

Drug clinical trials:

Search ClinicalTrials for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

Genetic Tests for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Anatomical Context for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
³²MalaCards
See all sources

MalaCards organs/tissues related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

³²

Liver, Eye, Brain, Skeletal muscle, Fetal liver

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	endocrine/exocrine gland phenotype	MP:0005379	8.5	HADH, INS, GLUD1, GCK
2	renal/urinary system phenotype	MP:0005367	8.3	GCK, INS, HADHA, HADH
3	liver/biliary system phenotype	MP:0005370	7.6	GCK, ACADVL, MTTP, INS, HADHA
4	growth/size/body phenotype	MP:0005378	6.9	HADHA, INS, MTTP, ACADVL, GLUD1, GCK
5	homeostasis/metabolism phenotype	MP:0005376	6.8	MTTP, INS, HADHA, GLUD1, GCK, ACADVL

Publications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
⁵¹PubMed
See all sources

Articles related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 59)

id	Title	Authors	Year
1	Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. (23430857)	Joost K.... Kahre T.	2012
2	Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. (21347589)	Martins E.... Vilarinho L.	2011
3	A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. (20814823)	Piekutowska-Abramczuk D.... Pronicka E.	2010
4	Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. (20670938)	Li C.... Stanley C.A.	2010
5	Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. (19107076)	Stopek D.... Pisella P.J.	2008
6	Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up. (18162058)	Fahnehjelm K.T.... von DAPbeln U.	2008
7	Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor. (18465739)	Sturm V.	2008
8	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with inadvertent caries in infants. (17181583)	Blake F.... Gbara A.	2007
9	Ten year follow up of pigmentary retinopathy associated with 3-hydroxyacyl-CoA dehydrogenase deficiency. (16167072)	McGimpsey S.J.... Mulholland D.A.	2006
10	Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (15347768)	Tyni T.... KivelAo T.	2004
11	Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). (12660866)	Russell-Eggitt I.M.... Morris A.A.	2003
12	Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (12872842)	Korenke G.C.... Hanefeld F.	2003
13	Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle? (14641012)	Eaton S.... Hussain K.	2003
14	Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (12809642)	Gillingham M.B.... Harding C.O.	2003
15	Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (12971430)	Lund A.M.... Morris A.A.	2003
16	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. (11773547)	den Boer M.E.... Wijburg F.A.	2002
17	LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]. (12637776)	Neuman-A8aniec M.... Balcerska A.	2002
18	Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (11719334)	Lund A.M.... Leonard J.V.	2001
19	Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (12537820)	Verlinsky Y.... Kuliev A.	2001
20	Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency. (11040918)	Puri P.... Chan J.	2000
21	Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. (10682306)	Shen J.J.... Van Hove J.L.	2000
22	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. (10518281)	Ibdah J.A.... Strauss A.W.	1999
23	Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (10384386)	Harding C.O.... Mills M.D.	1999
24	Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. (10331463)	Strauss A.W.... Ibdah J.	1999
25	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities. (10638050)	Faulkner M.S.	1999
26	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea. (10518285)	Thiel C.... Wanders R.J.	1999
27	Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. (10518286)	Carpenter K.H.... Wilcken B.	1999
28	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (10229030)	Tyni T.... Pihko H.	1999
29	Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. (9663844)	Tyni T.... KivelAo T.	1998
30	Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy. (9593380)	Tyni T.... Pihko H.	1998
31	Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (9240910)	Amirkhan R.H.... Bennett M.J.	1997
32	Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. (9185222)	Tyni T.... Pihko H.	1997
33	Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations. (9266371)	Ijlst L.... Wanders R.J.A.	1997
34	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C). (8739956)	Ijlst L.... Wanders R.J.	1996
35	The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (8736409)	Pons R.... Wanders R.J.	1996
36	Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation. (8938697)	Tyni T.... Pihko H.	1996
37	Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. (8770876)	Ijlst L.... Wanders R.J.A.	1996
38	Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (8803786)	Martins E.... Vilarinho L.	1996
39	Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (8803788)	Costa C.G.... Poll-The B.T.	1996
40	Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (7564259)	Hagenfeldt L.... von DAPbeln U.	1995
41	The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. (7846063)	Sims H.F.... Strauss A.W.	1995
42	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype. (7564258)	Ijlst L.... Wanders R.J.	1995
43	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder. (7813533)	Sewell A.C.... Wanders R.J.	1994
44	Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency. (7967472)	von DAPbeln U.... Hagenfeldt L.	1994
45	Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. (7811722)	Ijlst L.... Hashimoto T.	1994
46	First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk. (8372080)	PAcrez-CerdA! C.... Ugarte M.	1993
47	Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (1527994)	Ribes A.... Hale D.E.	1992
48	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients. (1770784)	Wanders R.J.... Aubourg P.	1991
49	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (1830138)	Jackson S.... Turnbull D.M.	1991
50	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation. (2122092)	Wanders R.J.... Duran M.	1990

Genes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁷Clinvar, ⁴⁸Orphanet, ⁶³UniProtKB/Swiss-Prot
See all sources

Genes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show all 8)

- Elite gene

id	Symbol	Description	Score	Implication
1	HADH	hydroxyacyl-CoA dehydrogenase	21.48	Pathogenic ⁷ Causative germline mutation ⁴⁸ Causative variation ⁶³ GeneCards inferred via : Publications, Disorders (show sections)
2	HADHA	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	18.98	GeneCards inferred via : Publications (show sections)
3	HSD17B10	hydroxysteroid (17-beta) dehydrogenase 10	16.48	GeneCards inferred via : Publications (show sections)
4	ACADVL	acyl-CoA dehydrogenase, very long chain	13.98	GeneCards inferred via : Publications (show sections)
5	GLUD1	glutamate dehydrogenase 1	11.48	GeneCards inferred via : Publications (show sections)
6	GCK	glucokinase (hexokinase 4)	8.98	GeneCards inferred via : Publications (show sections)
7	MTTP	microsomal triglyceride transfer protein	6.48	GeneCards inferred via : Publications (show sections)
8	INS	insulin	3.98	GeneCards inferred via : Publications (show sections)

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

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	8	-	8	7
2	Novus Biologicals	7	8	8	-

Variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
⁶³UniProtKB/Swiss-Prot, ⁷Clinvar
See all sources

UniProtKB/Swiss-Prot genetic disease variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

⁶³

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

Clinvar genetic disease variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

⁷

id	Gene	Name	Type	Significance	SNP ID	Assembly	Location
1	HADH	NM_005327.4(HADH): c.706C> T (p.Arg236Ter)	single nucleotide variant	Pathogenic	rs375717077	GRCh37	Chr 4, 108948913: 108948913
2	HADH	HADH, EX1DEL	deletion	Pathogenic
3	HADH	HADH, IVS5, G-T, +471	single nucleotide variant	Pathogenic
4	HADH	NM_005327.4(HADH): c.118G> A (p.Ala40Thr)	single nucleotide variant	Pathogenic	rs137853101	GRCh37	Chr 4, 108911206: 108911206
5	HADH	NM_005327.4(HADH): c.171C> A (p.Asp57Glu)	single nucleotide variant	Pathogenic	rs137853102	GRCh37	Chr 4, 108930953: 108930953
6	HADH	NM_005327.4(HADH): c.773C> T (p.Pro258Leu)	single nucleotide variant	Pathogenic	rs137853103	GRCh37	Chr 4, 108954395: 108954395
7	HADH	HADH, 6-BP DEL	deletion	Pathogenic

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

Sources:
²BioGPS, ¹⁶Gene 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:
⁴⁹PathCards, ³⁰KEGG, ³⁷NCBI BioSystems Database, ⁵⁴Reactome, ⁵⁰PharmGKB, ⁵²QIAGEN, ⁵⁹Thomson Reuters
See all sources

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

(show all 15)

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Biosynthesis of unsaturated fatty acids³⁰ Show member pathways oleate biosynthesis II (animals)³⁷ Fatty acid elongation³⁰	9.8	HADH, HADHA
2	Lysine degradation³⁰	9.8	HADH, HADHA
3	Butanoate metabolism³⁰ Show member pathways Synthesis and degradation of ketone bodies³⁰	9.8	HADHA, HADH
4	Beta oxidation of octanoyl-CoA to hexanoyl-CoA⁵⁴ Show member pathways Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA⁵⁴	9.8	HADHA, HADH
5	stearate biosynthesis I (animals)³⁷ Show member pathways fatty acid beta-oxidation I³⁷ eicosapentaenoate biosynthesis II (metazoa)³⁷ gamma-linolenate biosynthesis II (animals)³⁷ fatty acid activation³⁷	9.3	HADH, HADHA, HSD17B10
6	Tryptophan metabolism³⁷ Show member pathways Tryptophan catabolism⁵⁴ Tryptophan metabolism³⁰	9.3	HADH, HADHA, HSD17B10
7	Valine, leucine and isoleucine degradation³⁰ Show member pathways beta-alanine degradation I³⁷ Propanoate metabolism³⁰ valine degradation I³⁷ pyruvate fermentation to lactate³⁷ isoleucine degradation I³⁷	9.3	HSD17B10, HADHA, HADH
8	Type II diabetes mellitus³⁷ Show member pathways Type II diabetes mellitus³⁰ Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics⁵⁰	9.3	INS, GCK
9	Hepatic ABC Transporters⁵² Show member pathways MODY (Maturity-Onset Diabetes of Young)⁵²	9.3	GCK, INS
10	Regulation of beta-cell development⁵⁴ Show member pathways Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells⁵⁴ Regulation of gene expression in early pancreatic precursor cells⁵⁴ Regulation of gene expression in beta cells⁵⁴ Maturity onset diabetes of the young³⁰ Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells⁵⁴	9.3	GCK, INS
11	Mitochondrial LC-Fatty Acid Beta-Oxidation³⁷ Show member pathways fatty acid beta-oxidation III (unsaturated, odd number)³⁷ Fatty Acid Beta Oxidation³⁷	9.3	HADH, ACADVL, HADHA
12	Fatty acid, triacylglycerol, and ketone body metabolism⁵⁴ Show member pathways Beta oxidation of myristoyl-CoA to lauroyl-CoA⁵⁴ Propionyl-CoA catabolism⁵⁴ mitochondrial fatty acid beta-oxidation of saturated fatty acids⁵⁴ Beta oxidation of hexanoyl-CoA to butanoyl-CoA⁵⁴ Beta oxidation of butanoyl-CoA to acetyl-CoA⁵⁴ Transcriptional Regulation of White Adipocyte Differentiation⁵⁴ Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA⁵⁴ Mitochondrial Fatty Acid Beta-Oxidation⁵⁴ PPARA Activates Gene Expression⁵⁴ methylmalonyl pathway³⁷ Import of palmitoyl-CoA into the mitochondrial matrix⁵⁴ mitochondrial fatty acid beta-oxidation of unsaturated fatty acids⁵⁴ Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)⁵⁴ ketogenesis³⁷ Beta oxidation of palmitoyl-CoA to myristoyl-CoA⁵⁴	9.3	ACADVL, HADHA, HADH
13	Fatty acid metabolism³⁰ Show member pathways mitochondrial L-carnitine shuttle pathway³⁷ Saturated fatty acid biosynthesis⁵⁹ Fatty acid degradation³⁰ Fatty acid biosynthesis³⁰	9.3	HADHA, HADH, ACADVL
14	FOXA2 and FOXA3 transcription factor networks³⁷	8.5	HADH, INS, ACADVL, GCK
15	Metabolism⁵⁴ Show member pathways Metabolic pathways³⁰ Metabolism of lipids and lipoproteins⁵⁴	6.4	ACADVL, HADH, MTTP, INS, GLUD1, HSD17B10

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

Sources:
²⁵HMDB, ⁴⁴Novoseek, ²⁹IUPHAR, ⁵⁰PharmGKB, ¹²DrugBank, ⁶⁰Tocris Bioscience
See all sources

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

(show top 50) (show all 72)

id	Compound	Score	Top Affiliating Genes
1	20-CoA-20-oxo-18R-hydroxyleucotriene B4²⁵	10.1	HSD17B10, HADH
2	(S)-Hydroxyoctanoyl-CoA²⁵	10.1	HADH, HADHA
3	3(S)-3-hydroxydodecen-(5Z)-oyl-CoA²⁵	10.1	HSD17B10, HADH
4	CoA-20-COOH-18-oxo-LTE4²⁵	10.1	HSD17B10, HADH
5	(S)-Hydroxyhexanoyl-CoA²⁵	10.1	HADH, HADHA
6	18,20-Dioxo-20-CoA-leukotriene B4²⁵	10.1	HADH, HSD17B10
7	(S)-Hydroxydecanoyl-CoA²⁵	10.1	HADH, HADHA
8	(S)-3-Hydroxytetradecanoyl-CoA²⁵	10.1	HADH, HADHA
9	(S)-3-hydroxypalmitoleoyl-CoA²⁵	10.1	HSD17B10, HADH
10	16,18-Oxo-18-CoA-dinor-LTE4²⁵	10.1	HSD17B10, HADH
11	(S)-3-Hydroxydodecanoyl-CoA²⁵	10.1	HADHA, HADH
12	3-Oxododecanoyl-CoA²⁵	10.0	HADHA, HADH
13	3-Oxotetradecanoyl-CoA²⁵	10.0	HADHA, HADH
14	2-Methylacetoacetyl-CoA²⁵	10.0	HSD17B10, HADH
15	3-Oxodecanoyl-CoA²⁵	10.0	HADH, HADHA
16	(S)-3-Hydroxyhexadecanoyl-CoA²⁵	10.0	HADH, HADHA
17	3-Oxohexanoyl-CoA²⁵	9.9	HADH, HADHA
18	(3S)-3-Hydroxyadipyl-CoA²⁵	9.8	HADH, HADHA, HSD17B10
19	2-methyl-3-hydroxybutyryl-coa⁴⁴ ²⁵	10.8	HADH, HADHA, HSD17B10
20	3-Oxooctanoyl-CoA²⁵	9.8	HADH, HADHA, HSD17B10
21	3-Oxohexadecanoyl-CoA²⁵	9.8	HADH, HADHA, HSD17B10
22	Acetoacetyl-CoA²⁵	9.8	HSD17B10, HADHA, HADH
23	chromium picolinate⁴⁴	9.7	GCK, INS
24	alpha-ketoisocaproate⁴⁴	9.6	GCK, GLUD1
25	nad+⁴⁴	9.5	HADH, HSD17B10, GLUD1
26	preproinsulin⁴⁴	9.4	GCK, INS
27	i-app⁴⁴	9.4	INS, GCK
28	acetyl-l-carnitine⁴⁴	9.3	HADHA, ACADVL
29	beta-hydroxybutyrate⁴⁴	9.3	INS, GLUD1
30	incretin⁴⁴	9.3	INS, GCK
31	Heptanoyl-CoA²⁵	9.3	HADH, HADHA, HSD17B10, ACADVL
32	palmitate⁴⁴	9.3	ACADVL, INS, HADHA
33	nad²⁹ ²⁵	10.2	HADH, HADHA, HSD17B10, GLUD1
34	sulfonylurea⁴⁴	9.2	GCK, GLUD1, INS
35	tolbutamide⁴⁴ ²⁹ ⁵⁰ ¹²	12.2	GCK, GLUD1, INS
36	citrate⁴⁴	9.0	HADHA, HSD17B10, GLUD1, GCK
37	katp⁴⁴	8.9	HADH, INS, GLUD1, GCK
38	diazoxide⁴⁴ ⁶⁰ ²⁹ ¹²	11.9	GCK, GLUD1, INS, HADH
39	acetyl-coa⁴⁴ ²⁵	9.9	HADHA, ACADVL, GLUD1, GCK
40	glycerol⁴⁴ ²⁵ ¹²	10.8	GCK, GLUD1, INS
41	lactate⁴⁴	8.7	GCK, GLUD1, INS, HADHA
42	nadh⁴⁴ ²⁵ ¹²	10.6	HADH, HADHA, HSD17B10, GLUD1, GCK
43	creatinine⁴⁴	8.4	HADHA, INS, ACADVL, GLUD1, GCK
44	glutamate⁴⁴	8.1	HADH, HADHA, INS, HSD17B10, GLUD1, GCK
45	alanine⁴⁴	8.0	HADHA, INS, MTTP, GLUD1, GCK
46	acyl-coa⁴⁴	8.0	HADH, HADHA, HSD17B10, MTTP, ACADVL, GLUD1
47	carnitine⁴⁴	7.9	HADH, HADHA, INS, MTTP, ACADVL, GLUD1
48	lipid⁴⁴	7.7	HADHA, INS, HSD17B10, MTTP, ACADVL, GCK
49	glucose⁴⁴	7.3	HADH, HADHA, INS, MTTP, ACADVL, GLUD1
50	fatty acid⁴⁴	6.9	GCK, HADH, HADHA, INS, HSD17B10, MTTP

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

Sources:
¹⁷Gene 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	9.6	ACADVL, HADHA
2	mitochondrial matrix	GO:005759	8.6	HADH, HSD17B10, ACADVL, GLUD1
3	mitochondrial inner membrane	GO:005743	8.6	HADH, HADHA, HSD17B10, ACADVL
4	mitochondrion	GO:005739	7.7	GCK, HADH, HADHA, HSD17B10, ACADVL, GLUD1

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

(show all 12)

id	Name	GO ID	Score	Top Affiliating Genes
1	response to insulin	GO:032868	9.8	HADH, HADHA
2	negative regulation of gluconeogenesis	GO:045721	9.6	GCK, INS
3	fatty acid beta-oxidation	GO:006635	9.5	HADH, HADHA, ACADVL
4	positive regulation of glycolytic process	GO:045821	9.5	GCK, INS
5	positive regulation of glycogen biosynthetic process	GO:045725	9.5	GCK, INS
6	cellular lipid metabolic process	GO:044255	9.5	HADH, HADHA, ACADVL
7	positive regulation of insulin secretion	GO:032024	9.4	GCK, GLUD1
8	endocrine pancreas development	GO:031018	9.4	GCK, INS
9	regulation of insulin secretion	GO:050796	9.3	GCK, INS
10	glucose transport	GO:015758	9.2	GCK, INS
11	glucose homeostasis	GO:042593	9.0	GCK, INS
12	small molecule metabolic process	GO:044281	6.7	GCK, GLUD1, ACADVL, MTTP, HSD17B10, INS