MCID: 3HY005
MIFTS: 48

3-Hydroxyacyl-Coa Dehydrogenase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

Name: 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 49 11 23 65
Deficiency of 3-Hydroxyacyl-Coa Dehydrogenase 23 24
Schad Deficiency 23 67
Hadh Deficiency 23 67
Had Deficiency 23 67
L-3-Alpha-Hydroxyacyl-Coa Dehydrogenase, Short Chain, Deficiency 23
 
3-Alpha-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 23
3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 23
3-Alpha-Hydroxyacyl-Coa Dehydrogenase Deficiency 67
Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 67
M/schad Deficiency 23
Hadhsc Deficiency 23

Characteristics:

HPO:

61
3-hydroxyacyl-coa dehydrogenase deficiency:
Onset and clinical course: phenotypic variability
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 231530
MedGen34 C1291230
MeSH36 D008659
UMLS65 C1291230

Summaries for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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UniProtKB/Swiss-Prot:67 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency: A metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death.

MalaCards based summary: 3-Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as deficiency of 3-hydroxyacyl-coa dehydrogenase, is related to lchad deficiency and 3-hydroxyacyl-coenzyme a dehydrogenase deficiency, and has symptoms including feeding difficulties in infancy, hypoglycemic encephalopathy and fulminant hepatic failure. An important gene associated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency is HADH (Hydroxyacyl-CoA Dehydrogenase), and among its related pathways are Fatty Acid Biosynthesis (WikiPathways) and Beta oxidation of octanoyl-CoA to hexanoyl-CoA. Affiliated tissues include lung, skin and endothelial, and related mouse phenotypes are liver/biliary system and growth/size/body region.

Genetics Home Reference:23 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).

Description from OMIM:49 231530

Related Diseases for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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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

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

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

Drugs & Therapeutics for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Drugs for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Heparinapproved, investigational7199005-49-6772, 46507594
Synonyms:
101921-26-0
102-94-3
102785-31-9
104521-37-1
11078-24-3
11129-39-8
12656-11-0
2-o-sulfohexopyranuronosyl-(1->4)-2-deoxy-3-o-sulfo-2-(sulfoamino)hexopyranosyl-(1->4)-2-o-sulfohexopyranuronosyl-(1->4)-2-acetamido-2-deoxy-6-o-sulfohexopyranose
37324-73-5
6-[6-[6-[5-acetamido-4,6-dihydroxy-2-(sulfooxymethyl)oxan-3-yl]oxy-2-carboxy-4-hydroxy-5-sulfooxyoxan-3-yl]oxy-2-(hydroxymethyl)-5-(sulfoamino)-4-sulfooxyoxan-3-yl]oxy-3,4-dihydroxy-5-sulfooxyoxane-2-carboxylic acid
9041-08-1
9045-22-1
9075-96-1
913079-23-9
91449-79-5
AC1L19ZN
AC1L1ROY
ALFA 87-120
ALFA 87-163
ALFA 87-198
ALFA 87-81
ALFA 88-247
AR-1E4539
Allocinnamic acid
Ardeparin
Ardeparin sodium
Arteven
Bemiparin
Bemiparin sodium
CID772
CID8784
CY 216
Calciparine
Certoparin
Clexane
Clivarin
Clivarine
Cy 222
D006495
D017984
DB00407
DB01225
Dalteparin
Dalteparin sodium
Depo-Heparin
EINECS 232-681-7
EMT 966
EMT 967
EMT-966
EMT-967
EMT966
EMT967
Enoxaparin
Enoxaparin sodium
Enoxaparine
Eparina
Eparina [DCIT]
FR 860
Fluxum
Fragmin A
Fragmin B
Fragmin IV
Fraxiparin
H 2149
HSDB 3094
Hed-heparin
Hep Flush Kit in plastic container
Hep-Lock
Hep-Lock U/P
Hep-lock
Heparin
Heparin CY 216
Heparin Lock Flush
Heparin Lock Flush in plastic container
Heparin Lock Flush preservative free
Heparin Lock Flush preservative free in plastic container
Heparin Sodium
Heparin natrium
Heparin sodium
Heparin sodium 1,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 1,000 units in dextrose 5% in plastic container
Heparin sodium 1,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 10,000 units in dextrose 5%
Heparin sodium 10,000 units in dextrose 5% in plastic container
Heparin sodium 10,000 units in sodium chloride 0.45%
Heparin sodium 10,000 units in sodium chloride 0.9%
Heparin sodium 12,500 units in dextrose 5%
Heparin sodium 12,500 units in dextrose 5% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.45% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.9%
Heparin sodium 2,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 2,000 units in dextrose 5% in plastic container
Heparin sodium 2,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 20,000 units and dextrose 5% in plastic container
Heparin sodium 20,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units and dextrose 5% in plastic container
 
Heparin sodium 25,000 units in dextrose 5%
Heparin sodium 25,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.45% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.9%
Heparin sodium 25,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units in dextrose 5% in plastic container
Heparin sodium 5,000 units in sodium chloride 0.45%
Heparin sodium 5,000 units in sodium chloride 0.9%
Heparin sodium 5,000 units in sodium chloride 0.9% in plastic container
Heparin sodium in plastic container
Heparin sodium preservative Free
Heparin sulfate
Heparin sulphate
Heparin, Low Molecular Weight
Heparin, Low-Molecular-Weight
Heparin, sodium salt
Heparina
Heparina [INN-Spanish]
Heparinate
Heparine
Heparine [INN-French]
Heparinic acid
Heparinsodiumsalt
Heparinum
Heparinum [INN-Latin]
Heparinum natricum
Hepathrom
Hepflush-10
Inno-Hep
Innohep
Isocinnamic acid
KB 101
Kabi 2165
LHN 1
LMWH
Lioton 1000
Lipo-hepin
Liquaemin
Liquaemin Lock Flush
Liquaemin Sodium
Liquaemin sodium preservative free
Liquemin
Logiparin
Lovenox
Lovenox HP
Low Molecular Weight Heparin
Low molecular weight heparin
Low molecular weight heparin sodium
Low-Molecular-Weight Heparin
Minolteparin sodium
MolPort-003-760-257
Multiparin
NSC174025
Nadroparin
Nadroparine
Novoheparin
OP 386
OP 622
Octaparin
PK 10,169
PK-10,169
PK-10169
PK10,169
PK10169
Pabyrin
Panheprin
Parnaparin
Parnaparin sodium
Parvoparin
Pularin
Reviparin
Reviparin sodium
Ro 11
Sandoparin
Sodium acid heparin
Sodium heparin
Sodium heparinate
Subeparin
Sublingula
Thromboliquine
Tinzaparin
Tinzaparin sodium
Triofiban
UNII-12M44VTJ7B
UNII-3S182ET3UA
UNII-E47C0NF7LV
UNII-T2410KM04A
UNII-ZZ45AB24CA
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
2
Vitamin Eapproved, nutraceutical37159-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
3
Glycerolexperimental19156-81-5753
Synonyms:
1,2,3-Trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerine
Glyceritol
Glycerol
 
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
4Pharmaceutical Solutions7004
5Protective Agents5651
6Insulin, Globin Zinc4278
7calcium heparin719
8insulin4278
9Trace Elements3900
10Vitamins3857
11Tocotrienols372
12Antioxidants2442
13Micronutrients3901
14Tocopherols376
15pyruvateNutraceutical30
16TocopherolNutraceutical376
17TocotrienolNutraceutical372

Interventional clinical trials:

idNameStatusNCT IDPhase
1High Protein Diet in Patients With Long-chain Fatty Acid Oxidation DisordersCompletedNCT01494051Phase 1, Phase 2
2Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
3Fatty Acid Oxidation Defects and Insulin SensitivityRecruitingNCT02517307
4Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage DiseaseAvailableNCT01461304
5Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated NeuropathyTerminatedNCT00840112

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:

33
Lung, Skin, Endothelial, Neutrophil, T cells, Monocytes, Prostate

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.3ACADVL, GCK, HADHA, MTTP
2MP:00053787.2ACADVL, GCK, GLUD1, HADH, HADHA, MTTP
3MP:00053766.9ACADVL, GCK, GLUD1, HADH, HADHA, MTTP

Publications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Articles related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show top 50)    (show all 64)
idTitleAuthorsYear
1
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. (26896063)
2016
2
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy. (27078015)
2016
3
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (26676313)
2016
4
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. (23430857)
2012
5
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. (21347589)
2011
6
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. (20814823)
2010
7
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. (20670938)
2010
8
Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. (19107076)
2008
9
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up. (18162058)
2008
10
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with inadvertent caries in infants. (17181583)
2007
11
Ten year follow up of pigmentary retinopathy associated with 3-hydroxyacyl-CoA dehydrogenase deficiency. (16167072)
2006
12
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
13
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). (12660866)
2003
14
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (12872842)
2003
15
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle? (14641012)
2003
16
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (12809642)
2003
17
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. (11773547)
2002
18
LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]. (12637776)
2002
19
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (11719334)
2001
20
Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (12537820)
2001
21
Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency. (11040918)
2000
22
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. (10682306)
2000
23
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. (10518281)
1999
24
Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (10384386)
1999
25
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. (10331463)
1999
26
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities. (10638050)
1999
27
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea. (10518285)
1999
28
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. (10518286)
1999
29
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (10229030)
1999
30
Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. (9663844)
1998
31
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy. (9593380)
1998
32
Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (9240910)
1997
33
Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. (9185222)
1997
34
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations. (9266371)
1997
35
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
36
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (8736409)
1996
37
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation. (8938697)
1996
38
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
39
Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (8803786)
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:

67
id Symbol AA change Variation ID SNP ID
1HADHp.Ala40ThrVAR_024079
2HADHp.Asp57GluVAR_024080

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1HADHNM_001184705.2(HADH): c.676T> C (p.Tyr226His)single nucleotide variantLikely pathogenicrs146036912GRCh37Chr 4, 108948883: 108948883
2HADHNM_005327.4(HADH): c.118G> A (p.Ala40Thr)single nucleotide variantPathogenicrs137853101GRCh37Chr 4, 108911206: 108911206
3HADHNM_005327.4(HADH): c.171C> A (p.Asp57Glu)single nucleotide variantPathogenicrs137853102GRCh37Chr 4, 108930953: 108930953

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

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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 Suite gene sharing:

(show all 16)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7HADH, HADHA
2
Show member pathways
9.7HADH, HADHA
39.7HADH, HADHA
4
Show member pathways
9.7HADH, HADHA
5
Show member pathways
9.2HADH, HADHA, HSD17B10
6
Show member pathways
9.2HADH, HADHA, HSD17B10
7
Show member pathways
9.2HADH, HADHA, HSD17B10
8
Show member pathways
9.2GCK, HADH, HADHA
9
Show member pathways
9.2GCK, HADH, HADHA
10
Show member pathways
9.1ACADVL, HADH, HADHA
11
Show member pathways
9.1ACADVL, HADH, HADHA
12
Show member pathways
9.0GCK, GLUD1, HADHA
138.5ACADVL, GCK, HADH, HADHA
14
Show member pathways
8.5ACADVL, GCK, HADH, HADHA
15
Show member pathways
8.5ACADVL, GCK, HADH, HADHA
16
Show member pathways
6.7ACADVL, GCK, GLUD1, HADH, HADHA, HSD17B10

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

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Biological processes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to insulinGO:00328689.9HADH, HADHA
2cellular lipid metabolic processGO:00442559.4ACADVL, HADHA

Molecular functions related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
13-hydroxyacyl-CoA dehydrogenase activityGO:000385710.2HADH, HADHA
2fatty-acyl-CoA bindingGO:00000629.9ACADVL, HADHA
3oxidoreductase activityGO:00164919.5GLUD1, HSD17B10

Sources for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet