MCID: 3HY005
MIFTS: 57

3-Hydroxyacyl-Coa Dehydrogenase Deficiency malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Endocrine diseases, Rare diseases categories

Summaries for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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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

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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:



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:

ICD10 via Orphanet27 E71.3

Related Diseases for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1hyperinsulinemic hypoglycemia30.3GCK, HADH, GLUD1, INS
2hyperinsulinism30.1GCK, MTTP, INS, GLUD1
3hypoglycemia30.0GLUD1, ACADVL, INS, HADHA, HADH, GCK
43-hydroxyacyl-coenzyme a dehydrogenase deficiency11.1
5lchad deficiency10.7
6hyperinsulinism due to glutamodehydrogenase deficiency10.6
73-alpha hydroxyacyl-coa dehydrogenase deficiency10.5
8pigmentary retinopathy10.5
9fatty acid oxidation disorders10.5
10hypoparathyroidism10.4
11chorioretinitis10.4
12cardiogenic shock10.4
13cataract10.4
14dilated cardiomyopathy10.4
15liver cirrhosis10.4
16liver disease10.4
17choroiditis10.4
18cholestasis10.4
19retinitis10.4
20developmental disabilities10.4
21acute fatty liver of pregnancy10.4
22medium-chain acyl-coenzyme a dehydrogenase deficiency10.3ACADVL, HADHA
23sudden infant death syndrome10.2ACADVL, HADHA
24pyridoxine-refractory autosomal recessive sideroblastic anemia10.2GCK, HADHA
25permanent neonatal diabetes mellitus10.1INS, GCK
26neonatal diabetes mellitus10.1GCK, INS
27maturity-onset diabetes of the young10.1GCK, INS
28abetalipoproteinemia10.1MTTP, HADHA
29hyperammonemia multi-gene panels10.1GCK, GLUD1
30hyperuricemia10.1GCK, INS
31type 1 diabetes mellitus10.1INS, GCK
32gestational diabetes10.0GCK, INS
33myopathy10.0ACADVL, HADHA, INS
34familial hyperinsulinism10.0GLUD1, GCK, HADH
35glucose intolerance9.9INS, GCK
36fatty liver disease9.9MTTP, INS
37insulinoma9.9GCK, GLUD1, INS
38familial hyperlipidemia9.9MTTP, INS
39hypertriglyceridemia9.8INS, MTTP
40type 2 diabetes mellitus9.7INS, MTTP, GCK
41insulin resistance9.7GCK, MTTP, INS
42galactosemia9.7GLUD1, MTTP, INS, HADHA
43obesity9.6GCK, MTTP, INS
44metabolic syndrome x9.6GCK, GLUD1, ACADVL, HADHA, INS

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



Diseases related to 3-hydroxyacyl-coa dehydrogenase deficiency

Symptoms for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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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 Frequency 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

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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

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Anatomical Context for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5HADH, INS, GLUD1, GCK
2MP:00053678.3GCK, INS, HADHA, HADH
3MP:00053707.6GCK, ACADVL, MTTP, INS, HADHA
4MP:00053786.9HADHA, INS, MTTP, ACADVL, GLUD1, GCK
5MP:00053766.8MTTP, INS, HADHA, GLUD1, GCK, ACADVL

Publications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Articles related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. (23430857)
2012
2
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. (21347589)
2011
3
A comprehensive HADHA c.1528G&gt;C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. (20814823)
2010
4
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. (20670938)
2010
5
Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. (19107076)
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)
2008
7
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor. (18465739)
2008
8
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with inadvertent caries in infants. (17181583)
2007
9
Ten year follow up of pigmentary retinopathy associated with 3-hydroxyacyl-CoA dehydrogenase deficiency. (16167072)
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)
2004
11
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). (12660866)
2003
12
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (12872842)
2003
13
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle? (14641012)
2003
14
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (12809642)
2003
15
Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (12971430)
2003
16
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. (11773547)
2002
17
LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]. (12637776)
2002
18
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (11719334)
2001
19
Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (12537820)
2001
20
Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency. (11040918)
2000
21
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. (10682306)
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)
1999
23
Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (10384386)
1999
24
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. (10331463)
1999
25
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities. (10638050)
1999
26
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea. (10518285)
1999
27
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. (10518286)
1999
28
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (10229030)
1999
29
Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. (9663844)
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)
1998
31
Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (9240910)
1997
32
Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. (9185222)
1997
33
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations. (9266371)
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)
1996
35
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (8736409)
1996
36
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation. (8938697)
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)
1996
38
Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (8803786)
1996
39
Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (8803788)
1996
40
Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (7564259)
1995
41
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. (7846063)
1995
42
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype. (7564258)
1995
43
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder. (7813533)
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)
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)
1994
46
First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk. (8372080)
1993
47
Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (1527994)
1992
48
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients. (1770784)
1991
49
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (1830138)
1991
50
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation. (2122092)
1990

Variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

63
id Symbol AA change Variation ID SNP ID
1HADHp.Ala40ThrVAR_024079
2HADHp.Asp57GluVAR_024080

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

7
id Gene Name Type Significance SNP ID Assembly Location
1HADHNM_005327.4(HADH): c.706C> T (p.Arg236Ter)single nucleotide variantPathogenicrs375717077GRCh37Chr 4, 108948913: 108948913
2HADHHADH, EX1DELdeletionPathogenic
3HADHHADH, IVS5, G-T, +471single nucleotide variantPathogenic
4HADHNM_005327.4(HADH): c.118G> A (p.Ala40Thr)single nucleotide variantPathogenicrs137853101GRCh37Chr 4, 108911206: 108911206
5HADHNM_005327.4(HADH): c.171C> A (p.Asp57Glu)single nucleotide variantPathogenicrs137853102GRCh37Chr 4, 108930953: 108930953
6HADHNM_005327.4(HADH): c.773C> T (p.Pro258Leu)single nucleotide variantPathogenicrs137853103GRCh37Chr 4, 108954395: 108954395
7HADHHADH, 6-BP DELdeletionPathogenic

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

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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

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

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
oleate biosynthesis II (animals)37
9.8HADH, HADHA
29.8HADH, HADHA
3
Show member pathways
9.8HADHA, HADH
4
Show member pathways
9.8HADHA, HADH
5
Show member pathways
fatty acid beta-oxidation I37
eicosapentaenoate biosynthesis II (metazoa)37
gamma-linolenate biosynthesis II (animals)37
fatty acid activation37
9.3HADH, HADHA, HSD17B10
6
Show member pathways
9.3HADH, HADHA, HSD17B10
7
Show member pathways
beta-alanine degradation I37
valine degradation I37
pyruvate fermentation to lactate37
isoleucine degradation I37
9.3HSD17B10, HADHA, HADH
8
Show member pathways
9.3INS, GCK
9
Show member pathways
9.3GCK, INS
10
Show member pathways
9.3GCK, INS
11
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)37
Fatty Acid Beta Oxidation37
9.3HADH, ACADVL, HADHA
12
Show member pathways
9.3ACADVL, HADHA, HADH
13
Show member pathways
mitochondrial L-carnitine shuttle pathway37
Saturated fatty acid biosynthesis59
9.3HADHA, HADH, ACADVL
148.5HADH, INS, ACADVL, GCK
15
Show member pathways
6.4ACADVL, HADH, MTTP, INS, GLUD1, HSD17B10

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

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

(show top 50)    (show all 72)
idCompoundScoreTop Affiliating Genes
120-CoA-20-oxo-18R-hydroxyleucotriene B42510.1HSD17B10, HADH
2(S)-Hydroxyoctanoyl-CoA2510.1HADH, HADHA
33(S)-3-hydroxydodecen-(5Z)-oyl-CoA2510.1HSD17B10, HADH
4CoA-20-COOH-18-oxo-LTE42510.1HSD17B10, HADH
5(S)-Hydroxyhexanoyl-CoA2510.1HADH, HADHA
618,20-Dioxo-20-CoA-leukotriene B42510.1HADH, HSD17B10
7(S)-Hydroxydecanoyl-CoA2510.1HADH, HADHA
8(S)-3-Hydroxytetradecanoyl-CoA2510.1HADH, HADHA
9(S)-3-hydroxypalmitoleoyl-CoA2510.1HSD17B10, HADH
1016,18-Oxo-18-CoA-dinor-LTE42510.1HSD17B10, HADH
11(S)-3-Hydroxydodecanoyl-CoA2510.1HADHA, HADH
123-Oxododecanoyl-CoA2510.0HADHA, HADH
133-Oxotetradecanoyl-CoA2510.0HADHA, HADH
142-Methylacetoacetyl-CoA2510.0HSD17B10, HADH
153-Oxodecanoyl-CoA2510.0HADH, HADHA
16(S)-3-Hydroxyhexadecanoyl-CoA2510.0HADH, HADHA
173-Oxohexanoyl-CoA259.9HADH, HADHA
18(3S)-3-Hydroxyadipyl-CoA259.8HADH, HADHA, HSD17B10
192-methyl-3-hydroxybutyryl-coa44 2510.8HADH, HADHA, HSD17B10
203-Oxooctanoyl-CoA259.8HADH, HADHA, HSD17B10
213-Oxohexadecanoyl-CoA259.8HADH, HADHA, HSD17B10
22Acetoacetyl-CoA259.8HSD17B10, HADHA, HADH
23chromium picolinate449.7GCK, INS
24alpha-ketoisocaproate449.6GCK, GLUD1
25nad+449.5HADH, HSD17B10, GLUD1
26preproinsulin449.4GCK, INS
27i-app449.4INS, GCK
28acetyl-l-carnitine449.3HADHA, ACADVL
29beta-hydroxybutyrate449.3INS, GLUD1
30incretin449.3INS, GCK
31Heptanoyl-CoA259.3HADH, HADHA, HSD17B10, ACADVL
32palmitate449.3ACADVL, INS, HADHA
33nad29 2510.2HADH, HADHA, HSD17B10, GLUD1
34sulfonylurea449.2GCK, GLUD1, INS
35tolbutamide44 29 50 1212.2GCK, GLUD1, INS
36citrate449.0HADHA, HSD17B10, GLUD1, GCK
37katp448.9HADH, INS, GLUD1, GCK
38diazoxide44 60 29 1211.9GCK, GLUD1, INS, HADH
39acetyl-coa44 259.9HADHA, ACADVL, GLUD1, GCK
40glycerol44 25 1210.8GCK, GLUD1, INS
41lactate448.7GCK, GLUD1, INS, HADHA
42nadh44 25 1210.6HADH, HADHA, HSD17B10, GLUD1, GCK
43creatinine448.4HADHA, INS, ACADVL, GLUD1, GCK
44glutamate448.1HADH, HADHA, INS, HSD17B10, GLUD1, GCK
45alanine448.0HADHA, INS, MTTP, GLUD1, GCK
46acyl-coa448.0HADH, HADHA, HSD17B10, MTTP, ACADVL, GLUD1
47carnitine447.9HADH, HADHA, INS, MTTP, ACADVL, GLUD1
48lipid447.7HADHA, INS, HSD17B10, MTTP, ACADVL, GCK
49glucose447.3HADH, HADHA, INS, MTTP, ACADVL, GLUD1
50fatty acid446.9GCK, HADH, HADHA, INS, HSD17B10, MTTP

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

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:0426459.6ACADVL, HADHA
2mitochondrial matrixGO:0057598.6HADH, HSD17B10, ACADVL, GLUD1
3mitochondrial inner membraneGO:0057438.6HADH, HADHA, HSD17B10, ACADVL
4mitochondrionGO:0057397.7GCK, HADH, HADHA, HSD17B10, ACADVL, GLUD1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1response to insulinGO:0328689.8HADH, HADHA
2negative regulation of gluconeogenesisGO:0457219.6GCK, INS
3fatty acid beta-oxidationGO:0066359.5HADH, HADHA, ACADVL
4positive regulation of glycolytic processGO:0458219.5GCK, INS
5positive regulation of glycogen biosynthetic processGO:0457259.5GCK, INS
6cellular lipid metabolic processGO:0442559.5HADH, HADHA, ACADVL
7positive regulation of insulin secretionGO:0320249.4GCK, GLUD1
8endocrine pancreas developmentGO:0310189.4GCK, INS
9regulation of insulin secretionGO:0507969.3GCK, INS
10glucose transportGO:0157589.2GCK, INS
11glucose homeostasisGO:0425939.0GCK, INS
12small molecule metabolic processGO:0442816.7GCK, GLUD1, ACADVL, MTTP, HSD17B10, INS

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

idNameGO IDScoreTop Affiliating Genes
13-hydroxyacyl-CoA dehydrogenase activityGO:0038579.7HADHA, HADH
2ADP bindingGO:0435319.3GCK, GLUD1
3NAD+ bindingGO:0704039.3GLUD1, HADH

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet