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

Aliases & Classifications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
⁴⁹OMIM, ¹¹diseasecard, ²³Genetics Home Reference, ⁶⁵UMLS, ⁶⁷UniProtKB/Swiss-Prot, ²⁴GTR, ³⁴MedGen, ³⁶MeSH, ⁶¹The Human Phenotype Ontology
See all MalaCards sources

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:

MalaCards categories:
Global: Genetic diseases (common)

See all MalaCards categories (disease lists)

External Ids:

OMIM⁴⁹ 231530

MedGen³⁴ C1291230

MeSH³⁶ D008659

UMLS⁶⁵ C1291230

Summaries for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
²³Genetics Home Reference, ⁶⁷UniProtKB/Swiss-Prot, ⁴⁹OMIM, ³³MalaCards
See all MalaCards sources

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

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
See all MalaCards sources

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

(show all 30)

id	Related Disease	Score	Top Affiliating Genes
1	lchad deficiency	11.6
2	3-hydroxyacyl-coenzyme a dehydrogenase deficiency	11.6
3	3-alpha hydroxyacyl-coa dehydrogenase deficiency	11.5
4	hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency	11.3
5	hyperinsulinism	10.3
6	fatty acid oxidation disorders	10.3
7	5q22 deletion syndrome	10.3	HADH, HADHA
8	cataract	10.2
9	dilated cardiomyopathy	10.2
10	liver cirrhosis	10.2
11	liver disease	10.2
12	peripheral neuropathy	10.2
13	choroiditis	10.2
14	cholestasis	10.2
15	retinitis	10.2
16	neuropathy	10.2
17	developmental disabilities	10.2
18	cardiomyopathy	10.2
19	acyl-coa dehydrogenase, medium chain, deficiency of	10.0	ACADVL, HADHA
20	fbxl4-related mitochondrial dna depletion syndrome, encephalomyopathic form	10.0	ACADVL, HADHA
21	aceruloplasminemia	9.9	ACADVL, HADH
22	primary hypertrophic osteoarthropathy	9.9	GCK, HADH
23	long qt syndrome 6	9.9	ACADVL, HADH
24	lymphadenitis	9.9	HADH, HSD17B10
25	maple syrup urine disease, type ii	9.9	ACADVL, HADHA
26	chronic follicular conjunctivitis	9.7	GCK, GLUD1, HADH
27	placental choriocarcinoma	9.6	GCK, GLUD1, HADH
28	wolfram syndrome 2	9.4	HADHA, MTTP
29	transmitted_by	8.7	ACADVL, GCK, GLUD1, HADH, HADHA
30	hyperinsulinemic hypoglycemia, familial, 4	7.5	ACADVL, GCK, GLUD1, HADH, HADHA, HSD17B10

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

Symptoms for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
⁴⁹OMIM, ⁶¹The Human Phenotype Ontology
See all MalaCards sources

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	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

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ¹³DrugBank, ²⁶HMDB, ⁹DGIdb, ⁵³PharmGKB, ³⁰IUPHAR, ⁴⁷Novoseek, ¹BitterDB
See all MalaCards sources

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

(show all 17)

id

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Heparin

approved, investigational

719

9005-49-6

772, 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 E

approved, nutraceutical

371

59-02-9

14985

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

Glycerol

experimental

191

56-81-5

753

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

4

Pharmaceutical Solutions

7004

5

Protective Agents

5651

6

Insulin, Globin Zinc

4278

7

calcium heparin

719

8

insulin

4278

9

Trace Elements

3900

10

Vitamins

3857

11

Tocotrienols

372

12

Antioxidants

2442

13

Micronutrients

3901

14

Tocopherols

376

15

pyruvate

Nutraceutical

30

16

Tocopherol

Nutraceutical

376

17

Tocotrienol

Nutraceutical

372

Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders	Completed	NCT01494051	Phase 1, Phase 2
2	Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy	Recruiting	NCT02635269
3	Fatty Acid Oxidation Defects and Insulin Sensitivity	Recruiting	NCT02517307
4	Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage Disease	Available	NCT01461304
5	Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated Neuropathy	Terminated	NCT00840112

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:
³³MalaCards
See all MalaCards sources

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

Sources:
³⁸MGI
See all MalaCards sources

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

³⁸

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system	MP:0005370	8.3	ACADVL, GCK, HADHA, MTTP
2	growth/size/body region	MP:0005378	7.2	ACADVL, GCK, GLUD1, HADH, HADHA, MTTP
3	homeostasis/metabolism	MP:0005376	6.9	ACADVL, GCK, GLUD1, HADH, HADHA, MTTP

Publications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
⁵⁴PubMed
See all MalaCards sources

Articles related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 64)

id	Title	Authors	Year
1	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. (26896063)	Llorca-CardeA+osa A.... CastejA^n-Ponce E.	2016
2	Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy. (27078015)	Yonekawa Y.... Capone A.	2016
3	Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (26676313)	Immonen T.... Lapatto R.	2016
4	Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. (23430857)	Joost K.... Kahre T.	2012
5	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
6	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
7	Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. (20670938)	Li C.... Stanley C.A.	2010
8	Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. (19107076)	Stopek D.... Pisella P.J.	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)	Fahnehjelm K.T.... von DAPbeln U.	2008
10	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with inadvertent caries in infants. (17181583)	Blake F.... Gbara A.	2007
11	Ten year follow up of pigmentary retinopathy associated with 3-hydroxyacyl-CoA dehydrogenase deficiency. (16167072)	McGimpsey S.J.... Mulholland D.A.	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)	Tyni T.... KivelAo T.	2004
13	Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). (12660866)	Russell-Eggitt I.M.... Morris A.A.	2003
14	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
15	Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle? (14641012)	Eaton S.... Hussain K.	2003
16	Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (12809642)	Gillingham M.B.... Harding C.O.	2003
17	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. (11773547)	den Boer M.E.... Wijburg F.A.	2002
18	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
19	Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (11719334)	Lund A.M.... Leonard J.V.	2001
20	Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (12537820)	Verlinsky Y.... Kuliev A.	2001
21	Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency. (11040918)	Puri P.... Chan J.	2000
22	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
23	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
24	Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (10384386)	Harding C.O.... Mills M.D.	1999
25	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
26	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities. (10638050)	Faulkner M.S.	1999
27	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
28	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
29	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (10229030)	Tyni T.... Pihko H.	1999
30	Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. (9663844)	Tyni T.... KivelAo T.	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)	Tyni T.... Pihko H.	1998
32	Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (9240910)	Amirkhan R.H.... Bennett M.J.	1997
33	Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. (9185222)	Tyni T.... Pihko H.	1997
34	Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations. (9266371)	Ijlst L.... Wanders R.J.A.	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)	Ijlst L.... Wanders R.J.	1996
36	The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (8736409)	Pons R.... Wanders R.J.	1996
37	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
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)	Ijlst L.... Wanders R.J.A.	1996
39	Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (8803786)	Martins E.... Vilarinho L.	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:
²⁰GeneCards, ⁴⁹OMIM, ⁵Clinvar, ⁶⁷UniProtKB/Swiss-Prot
See all MalaCards sources

Genes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication
1	HADH	Hydroxyacyl-CoA Dehydrogenase	1219.54	Molecular basis known ⁴⁹ Pathogenic ⁵ Causative variation ⁶⁷ GeneCards inferred via : Publications (show sections)
2	HADHA	Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Alpha Subunit	20.25	GeneCards inferred via : Publications (show sections)
3	HSD17B10	Hydroxysteroid (17-Beta) Dehydrogenase 10	18.85	GeneCards inferred via : Publications (show sections)
4	GCK	Glucokinase	18.50	GeneCards inferred via : Publications (show sections)
5	ACADVL	Acyl-CoA Dehydrogenase, Very Long Chain	18.50	GeneCards inferred via : Publications (show sections)
6	MTTP	Microsomal Triglyceride Transfer Protein	18.50	GeneCards inferred via : Publications (show sections)
7	GLUD1	Glutamate Dehydrogenase 1	18.50	GeneCards inferred via : Publications (show sections)

Variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources:
⁶⁷UniProtKB/Swiss-Prot, ⁵Clinvar
See all MalaCards sources

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

⁶⁷

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:

⁵

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	HADH	NM_001184705.2(HADH): c.676T> C (p.Tyr226His)	single nucleotide variant	Likely pathogenic	rs146036912	GRCh37	Chr 4, 108948883: 108948883
2	HADH	NM_005327.4(HADH): c.118G> A (p.Ala40Thr)	single nucleotide variant	Pathogenic	rs137853101	GRCh37	Chr 4, 108911206: 108911206
3	HADH	NM_005327.4(HADH): c.171C> A (p.Asp57Glu)	single nucleotide variant	Pathogenic	rs137853102	GRCh37	Chr 4, 108930953: 108930953

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

Sources:
¹⁷Gene Expression Omnibus DataSets
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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

Sources:
⁵²PathCards, ³⁹NCBI BioSystems Database, ⁵⁷Reactome, ³¹KEGG, ⁵³PharmGKB
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Pathways related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 16)

id	Super pathways	Score	Top Affiliating Genes
1	Fatty Acid Biosynthesis (WikiPathways)³⁹ Show member pathways Fatty Acid Biosynthesis³⁹	9.7	HADH, HADHA
2	Beta oxidation of octanoyl-CoA to hexanoyl-CoA⁵⁷ Show member pathways Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA⁵⁷	9.7	HADH, HADHA
3	Lysine degradation³¹	9.7	HADH, HADHA
4	Butanoate metabolism³¹ Show member pathways Synthesis of Ketone Bodies⁵⁷ Ketone body metabolism⁵⁷ Utilization of Ketone Bodies⁵⁷ Synthesis and Degradation of Ketone Bodies³⁹ Synthesis and degradation of ketone bodies³¹ ketolysis³⁹ ketogenesis³⁹	9.7	HADH, HADHA
5	Tryptophan metabolism³⁹ ³¹ Show member pathways Tryptophan catabolism⁵⁷ superpathway of tryptophan utilization³⁹ L-kynurenine degradation³⁹ tryptophan degradation³⁹ NAD de novo biosynthesis³⁹ tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde³⁹ glutaryl-CoA degradation³⁹ 2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA³⁹ superpathway of melatonin degradation³⁹ melatonin degradation I³⁹ serotonin degradation³⁹ tryptophan degradation via tryptamine³⁹ NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde³⁹	9.2	HADH, HADHA, HSD17B10
6	Valine, leucine and isoleucine degradation³¹ Show member pathways beta-alanine degradation³⁹ valine degradation³⁹ isoleucine degradation³⁹ Branched-chain amino acid catabolism⁵⁷ leucine degradation³⁹ Carnitine synthesis⁵⁷ L-carnitine biosynthesis³⁹	9.2	HADH, HADHA, HSD17B10
7	gamma-linolenate biosynthesis³⁹ Show member pathways fatty acid beta-oxidation³⁹ icosapentaenoate biosynthesis II (metazoa)³⁹	9.2	HADH, HADHA, HSD17B10
8	Fatty Acyl-CoA Biosynthesis⁵⁷ Show member pathways Fatty acid elongation³¹ Biosynthesis of unsaturated fatty acids³¹ Triglyceride Biosynthesis⁵⁷ stearate biosynthesis³⁹ acyl-CoA hydrolysis³⁹ fatty acid activation³⁹ Synthesis of very long-chain fatty acyl-CoAs⁵⁷	9.2	GCK, HADH, HADHA
9	PPAR signaling pathway³¹ Show member pathways fatty acid beta-oxidation (peroxisome)³⁹	9.2	GCK, HADH, HADHA
10	Fatty acid metabolism³¹ Show member pathways Fatty acid degradation³¹	9.1	ACADVL, HADH, HADHA
11	Mitochondrial Fatty Acid Beta-Oxidation⁵⁷ Show member pathways Propionyl-CoA catabolism⁵⁷ Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA⁵⁷ mitochondrial fatty acid beta-oxidation of saturated fatty acids⁵⁷ Beta oxidation of butanoyl-CoA to acetyl-CoA⁵⁷ Beta oxidation of hexanoyl-CoA to butanoyl-CoA⁵⁷ mitochondrial fatty acid beta-oxidation of unsaturated fatty acids⁵⁷ Beta oxidation of myristoyl-CoA to lauroyl-CoA⁵⁷ Beta oxidation of palmitoyl-CoA to myristoyl-CoA⁵⁷ propionyl-CoA degradation³⁹	9.1	ACADVL, HADH, HADHA
12	Carbon metabolism³¹ Show member pathways Biosynthesis of amino acids³¹ 2-Oxocarboxylic acid metabolism³¹ Pentose Phosphate Pathway (Erythrocyte)⁵³ formaldehyde oxidation³⁹ pentose phosphate pathway (oxidative branch)³⁹	9.0	GCK, GLUD1, HADHA
13	FOXA2 and FOXA3 transcription factor networks³⁹	8.5	ACADVL, GCK, HADH, HADHA
14	Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)⁵⁷ Show member pathways Fatty acid, triacylglycerol, and ketone body metabolism⁵⁷ PPARA activates gene expression⁵⁷ Transcriptional regulation of white adipocyte differentiation⁵⁷	8.5	ACADVL, GCK, HADH, HADHA
15	Mitochondrial LC-Fatty Acid Beta-Oxidation³⁹ Show member pathways Fatty Acid Beta Oxidation³⁹ fatty acid beta-oxidation (unsaturated, odd number)³⁹	8.5	ACADVL, GCK, HADH, HADHA
16	Metabolism⁵⁷ Show member pathways Metabolism of lipids and lipoproteins⁵⁷ Metabolic pathways³¹	6.7	ACADVL, GCK, GLUD1, HADH, HADHA, HSD17B10

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

Sources:
¹⁸Gene Ontology
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Biological processes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	response to insulin	GO:0032868	9.9	HADH, HADHA
2	cellular lipid metabolic process	GO:0044255	9.4	ACADVL, HADHA

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

id	Name	GO ID	Score	Top Affiliating Genes
1	3-hydroxyacyl-CoA dehydrogenase activity	GO:0003857	10.2	HADH, HADHA
2	fatty-acyl-CoA binding	GO:0000062	9.9	ACADVL, HADHA
3	oxidoreductase activity	GO:0016491	9.5	GLUD1, HSD17B10