MCID: 3HY005
MIFTS: 50

3-Hydroxyacyl-Coa Dehydrogenase Deficiency malady

Genetic diseases (common) category

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


Classifications:



External Ids:

OMIM49 231530
MedGen34 C1291230
MeSH36 D008659

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 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 and Lysine degradation. Affiliated tissues include liver, fetal liver and skeletal muscle, and related mouse phenotypes are liver/biliary system and cardiovascular system.

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1lchad deficiency10.6
23-hydroxyacyl-coenzyme a dehydrogenase deficiency10.6
3hypoglycemia10.6
4hyperinsulinism10.5
5fatty acid oxidation disorders10.5
6hyperinsulinemic hypoglycemia10.4
7hypoparathyroidism10.4
8chorioretinitis10.4
9cardiogenic shock10.4
10cataract10.4
11dilated cardiomyopathy10.4
12liver cirrhosis10.4
13liver disease10.4
14choroiditis10.4
15cholestasis10.4
16retinitis10.4
17developmental disabilities10.4
183-alpha hydroxyacyl-coa dehydrogenase deficiency10.4
19cardiomyopathy10.4
20hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency10.3
215q22 deletion syndrome10.2HADH, HADHA
22alpha-methylacetoacetic aciduria10.0ACADM, HSD17B10
23was-related disorders10.0ACADM, ACADVL
24senile degeneration of brain10.0ACADM, HADHA
25carnitine deficiency, systemic primary10.0ACADM, ACADVL
26diphtheritic peritonitis10.0GCK, GLUD1, HADH
27thoracic aortic aneurysm10.0GCK, GLUD1, HADH
28microphthalmia/anophthalmia/coloboma spectrum9.9ACADM, ACADVL, HADHA
29fbxl4-related mitochondrial dna depletion syndrome, encephalomyopathic form9.9ACADM, ACADVL, HADHA
30biotinidase deficiency9.9ACADM, ACADVL
31fatal infantile encephalomyopathy9.9ACADM, GLUD1
32long qt syndrome 69.9ACADM, ACADVL, HADH
33maple syrup urine disease, type ii9.9ACADM, ACADVL, HADHA
34aceruloplasminemia9.9ACADM, ACADVL, HADH
35fibromatosis9.9KRT8, VIM
36spindle cell liposarcoma9.9KRT8, VIM
37odontoma dysphagia syndrome9.9KRT8, VIM
38liver inflammatory pseudotumor9.9HADHA, VIM
39ovary rhabdomyosarcoma9.8KRT8, VIM
40epulis9.7KRT8, VIM
41aryepiglottic fold cancer9.6ACADM, ACADVL, GCK, GLUD1, HADH
423-hydroxyacyl-coa dehydrogenase deficiency8.6ACADM, ACADVL, GCK, GLUD1, HADH, HADHA

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Heparinapproved, investigational6729005-49-6772, 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, nutraceutical35059-02-914985
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
Glycerolexperimental17656-81-5753
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
4calcium heparin672
5insulin4069
6Insulin, Globin Zinc4069
7Tocopherols355
8Tocotrienols352
9pyruvateNutraceutical27
10TocopherolNutraceutical355
11TocotrienolNutraceutical352

Interventional clinical trials:

idNameStatusNCT IDPhase
1High Protein Diet in Patients With Long-chain Fatty Acid Oxidation DisordersCompletedNCT01494051Phase 1, Phase 2
2Fatty Acid Oxidation Defects and Insulin SensitivityRecruitingNCT02517307
3Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage DiseaseAvailableNCT01461304
4Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyNot yet recruitingNCT02635269
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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Genetic tests related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Deficiency of 3-Hydroxyacyl-Coa Dehydrogenase24

Anatomical Context for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

33
Liver, Fetal liver, Skeletal muscle, Brain, Eye

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:00053708.0ACADM, ACADVL, GCK, HADHA, KRT8, MTTP
2MP:00053857.4ACADM, ACADVL, HADHA, KRT8, MTTP, VIM
3MP:00053786.6ACADVL, GCK, GLUD1, HADH, HADHA, KRT8
4MP:00053766.6ACADM, ACADVL, GCK, GLUD1, HADH, HADHA

Publications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Articles related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. (26024122)
2015
2
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. (23430857)
2012
3
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. (21347589)
2011
4
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. (20814823)
2010
5
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. (20670938)
2010
6
Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. (19107076)
2008
7
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up. (18162058)
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:

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 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Fatty Acid Biosynthesis (WikiPathways)
Show member pathways
9.9
29.9HADH, HADHA
39.5ACADM, HADHA
4
beta-Alanine metabolism (KEGG)
Show member pathways
9.5ACADM, HADHA
5
Show member pathways
9.5HADH, HADHA, HSD17B10
6
Show member pathways
9.5HADH, HADHA, HSD17B10
7
Show member pathways
9.5GCK, HADH, HADHA
8
Show member pathways
9.2ACADM, HADH, HADHA
99.2ACADM, GCK, HADHA
10
Show member pathways
8.9ACADM, HADH, HADHA, HSD17B10
11
Show member pathways
8.8ACADM, ACADVL, HADH, HADHA
12
Show member pathways
8.8ACADM, ACADVL, HADH, HADHA
13
Show member pathways
8.4ACADM, ACADVL, GCK, HADH, HADHA
14
Show member pathways
8.4ACADM, ACADVL, GCK, HADH, HADHA
158.4ACADM, ACADVL, GCK, HADH, HADHA
16
Show member pathways
8.0ACADM, GCK, GLUD1, HADH, HADHA, HSD17B10
17
Show member pathways
7.1ACADM, ACADVL, GCK, GLUD1, HADH, HADHA

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:00426459.6ACADVL, HADHA, HSD17B10
2intermediate filament cytoskeletonGO:00451119.6KRT8, VIM
3mitochondrial inner membraneGO:00057439.2ACADVL, HADH, HADHA, HSD17B10
4mitochondrial matrixGO:00057598.3ACADM, ACADVL, GLUD1, HADH, HSD17B10
5mitochondrionGO:00057397.3ACADM, ACADVL, GCK, GLUD1, HADH, HADHA

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1fatty acid metabolic processGO:000663110.4HADH, HADHA
2response to insulinGO:003286810.4HADH, HADHA
3fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:003353910.1ACADM, ACADVL
4lipid homeostasisGO:005508810.0ACADM, ACADVL
5response to hormoneGO:00097259.9ACADM, HADH
6protein homotetramerizationGO:00512899.7ACADM, HSD17B10
7fatty acid beta-oxidationGO:00066359.4ACADM, ACADVL, HADH, HADHA
8positive regulation of insulin secretionGO:00320249.3GCK, GLUD1
9cellular lipid metabolic processGO:00442559.2ACADM, ACADVL, HADH, HADHA
10response to drugGO:00424939.1ACADM, HADH, HADHA
11oxidation-reduction processGO:00551148.0ACADM, ACADVL, GLUD1, HADH, HADHA, HSD17B10
12small molecule metabolic processGO:00442817.2ACADM, ACADVL, GCK, GLUD1, HADH, HADHA

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1NAD bindingGO:005128710.2HADHA, HSD17B10
2NAD+ bindingGO:007040310.1GLUD1, HADH
3acyl-CoA dehydrogenase activityGO:000399510.0ACADM, ACADVL
4oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:005289010.0ACADM, ACADVL
5oxidoreductase activity, acting on the CH-CH group of donorsGO:001662710.0ACADM, ACADVL
63-hydroxyacyl-CoA dehydrogenase activityGO:00038579.9HADH, HADHA, HSD17B10
7flavin adenine dinucleotide bindingGO:00506609.7ACADM, ACADVL
8scaffold protein bindingGO:00971109.6KRT8, VIM
9fatty-acyl-CoA bindingGO:00000629.4ACADM, ACADVL, HADHA
10oxidoreductase activityGO:00164919.0GLUD1, HADH, HADHA, HSD17B10
11identical protein bindingGO:00428027.9ACADM, GLUD1, HSD17B10, VIM

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