MCID: 3HY005
MIFTS: 60

3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

MalaCards integrated aliases for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

Name: 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 53 72 24 36 13 69
Hadh Deficiency 53 24 71
Deficiency of 3-Hydroxyacyl-Coa Dehydrogenase 24 28
Metabolic Diseases 41 69
Schad Deficiency 24 71
Had Deficiency 24 71
L-3-Alpha-Hydroxyacyl-Coa Dehydrogenase, Short Chain, Deficiency 24
3-Alpha-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 24
3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 24
3-Alpha-Hydroxyacyl-Coa Dehydrogenase Deficiency 71
Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 71
Schad Deficiency, Formerly 53
M/schad Deficiency 24
Hadhsc Deficiency 24
Metabolic Disease 28

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
sudden infant death may occur


HPO:

31
3-hydroxyacyl-coa dehydrogenase deficiency:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

UniProtKB/Swiss-Prot : 71 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 hadh deficiency, is related to long-chain 3-hydroxyacyl-coa dehydrogenase deficiency and glucose metabolism disease, and has symptoms including muscular hypotonia, feeding difficulties in infancy and hypertrophic cardiomyopathy. An important gene associated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency is HADH (Hydroxyacyl-CoA Dehydrogenase), and among its related pathways/superpathways are Fatty acid elongation and Fatty acid degradation. The drugs Glycerol and Heparin have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and eye, and related phenotypes are homeostasis/metabolism and cardiovascular system

Genetics Home Reference : 24 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).

Wikipedia : 72 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADH deficiency) is a rare condition that prevents... more...

Description from OMIM: 231530

Related Diseases for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 34.1 ACADM ACADVL HADH HADHA
2 glucose metabolism disease 31.1 ADIPOQ GCK GHRL INS PPARA PPARG
3 acquired metabolic disease 31.1 ADIPOQ GCK GHRL INS PPARA PPARG
4 diabetes mellitus 30.8 ADIPOQ GCK INS PPARG
5 inherited metabolic disorder 30.7 ADIPOQ GBA INS
6 hyperinsulinism 29.8 GCK GHRL GLUD1 HADH INS
7 diabetes mellitus, noninsulin-dependent 29.6 ADIPOQ GCK GHRL INS PPARA PPARG
8 liver disease 29.4 ADIPOQ HADHA INS PPARA
9 body mass index quantitative trait locus 11 28.9 ADIPOQ GCK GHRL INS PPARA PPARG
10 mineral metabolism disease 12.1
11 iron metabolism disease 12.0
12 plasma protein metabolism disease 12.0
13 phosphorus metabolism disease 11.9
14 mitochondrial metabolism disease 11.9
15 histidine metabolism disease 11.9
16 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 11.8
17 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.8
18 tay-sachs disease 11.1
19 amyloidosis 11.1
20 diabetes mellitus, insulin-dependent 10.9
21 hypocalcemia, autosomal dominant 1 10.9
22 hyperprolactinemia 10.9
23 d-glyceric aciduria 10.8
24 fructose intolerance, hereditary 10.8
25 hemochromatosis, neonatal 10.8
26 histidinemia 10.8
27 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.8
28 succinyl-coa:3-oxoacid-coa transferase deficiency 10.8
29 malonyl-coa decarboxylase deficiency 10.8
30 mannosidosis, alpha b, lysosomal 10.8
31 3-hydroxyisobutyryl-coa hydrolase deficiency 10.8
32 mitochondrial complex v deficiency, nuclear type 1 10.8
33 alpha-1-antitrypsin deficiency 10.8
34 mitochondrial complex v deficiency, nuclear type 3 10.8
35 combined malonic and methylmalonic aciduria 10.8
36 mitochondrial complex v deficiency, nuclear type 4 10.8
37 lactic acidosis 10.8
38 craniosynostosis 10.7
39 mitochondrial complex i deficiency 10.5
40 mitochondrial complex ii deficiency 10.5
41 myopathy with lactic acidosis, hereditary 10.5
42 leigh syndrome 10.5
43 mohr-tranebjaerg syndrome 10.5
44 pearson marrow-pancreas syndrome 10.5
45 encephalopathy, ethylmalonic 10.5
46 aceruloplasminemia 10.5
47 bile acid synthesis defect, congenital, 1 10.5
48 thiopurines, poor metabolism of, 1 10.5
49 mitochondrial complex v deficiency, nuclear type 2 10.5
50 mitochondrial complex iii deficiency, nuclear type 2 10.5

Comorbidity relations with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Encephalopathy Heart Disease

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



Diseases related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Symptoms & Phenotypes for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Symptoms via clinical synopsis from OMIM:

53
Laboratory Abnormalities:
hypoglycemia
dicarboxylic aciduria
myoglobinuria (reported in 1 patient)
decreased activity of 3-hydroxyacyl-coa dehydrogenase in various tissues (liver, muscle, fibroblasts)
some tissues may have normal levels of 3-hydroxyacyl-coa dehydrogenase activity

Muscle Soft Tissue:
hypotonia

Growth Other:
poor growth

Neurologic Central Nervous System:
seizures, hypoglycemic
encephalopathy, hypoglycemic

Abdomen Liver:
hepatic steatosis
hepatic necrosis
fulminant hepatic failure (reported in 1 patient)

Abdomen Gastroin testinal:
poor feeding

Cardiovascular Heart:
dilated cardiomyopathy (reported in 1 patient)
hypertrophic cardiomyopathy (reported in 1 patient)

Metabolic Features:
hypoglycemia, hypoketotic


Clinical features from OMIM:

231530

Human phenotypes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 31 HP:0001252
2 feeding difficulties in infancy 31 HP:0008872
3 hypertrophic cardiomyopathy 31 HP:0001639
4 growth delay 31 HP:0001510
5 hepatic steatosis 31 HP:0001397
6 dilated cardiomyopathy 31 HP:0001644
7 hypoglycemic seizures 31 HP:0002173
8 hypoketotic hypoglycemia 31 HP:0001985
9 myoglobinuria 31 HP:0002913
10 dicarboxylic aciduria 31 HP:0003215
11 hypoglycemic encephalopathy 31 HP:0006929
12 hepatic necrosis 31 HP:0002605
13 fulminant hepatic failure 31 HP:0004448

UMLS symptoms related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:


emaciation

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 ACADM ACADVL ADIPOQ GBA GCK GHRL
2 cardiovascular system MP:0005385 10.09 PPARA PPARG ACADM ACADVL ADIPOQ ETFDH
3 growth/size/body region MP:0005378 10.07 ACADVL ADIPOQ GBA GCK GLUD1 HADH
4 endocrine/exocrine gland MP:0005379 10.01 GCK GHRL GLUD1 HADH INS PPARG
5 adipose tissue MP:0005375 10 ACADVL ADIPOQ GHRL HADH INS PPARA
6 liver/biliary system MP:0005370 9.91 PPARA PPARG ACADM ACADVL ADIPOQ GBA
7 mortality/aging MP:0010768 9.85 INS PPARA PPARG ACADM ACADVL ADIPOQ
8 muscle MP:0005369 9.5 ACADM ACADVL ADIPOQ HADHA INS PPARA
9 renal/urinary system MP:0005367 9.1 ADIPOQ GCK HADH HADHA INS PPARG

Drugs & Therapeutics for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational 56-81-5 753
2
Heparin Approved, Investigational 9005-49-6 46507594 772
3 Anticoagulants
4 calcium heparin
5 Calcium, Dietary
6 Fat Emulsions, Intravenous
7 Fibrinolytic Agents
8 Hypoglycemic Agents
9 insulin
10 Insulin, Globin Zinc
11 Parenteral Nutrition Solutions
12 Pharmaceutical Solutions
13 Protective Agents
14 Soybean oil, phospholipid emulsion
15 Soy Bean Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
2 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
3 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269

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

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: metabolic diseases

Genetic Tests for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Genetic tests related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of 3-Hydroxyacyl-Coa Dehydrogenase 28 HADH
2 Metabolic Disease 28

Anatomical Context for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

38
Liver, Brain, Eye, Skeletal Muscle, Fetal Liver

Publications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Articles related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 68)
# Title Authors Year
1
High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland. ( 29095929 )
2017
2
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy. ( 27078015 )
2016
3
Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function. ( 27639177 )
2016
4
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 26676313 )
2016
5
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients. ( 26653362 )
2016
6
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. ( 26896063 )
2016
7
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function. ( 27461099 )
2016
8
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 26024122 )
2015
9
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 23430524 )
2013
10
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. ( 23430857 )
2012
11
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. ( 22579592 )
2012
12
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. ( 21347589 )
2011
13
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. ( 20670938 )
2010
14
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. ( 20814823 )
2010
15
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor. ( 18465739 )
2008
16
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Presentation of a long-term survivor. ( 28221621 )
2008
17
[Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. ( 19107076 )
2008
18
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up. ( 18162058 )
2008
19
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with inadvertent caries in infants. ( 17181583 )
2007
20
Ten year follow up of pigmentary retinopathy associated with 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 16167072 )
2006
21
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
22
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12809642 )
2003
23
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle? ( 14641012 )
2003
24
Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12971430 )
2003
25
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). ( 12660866 )
2003
26
Analysis of isomeric long-chain hydroxy fatty acids by tandem mass spectrometry: application to the diagnosis of long-chain 3-hydroxyacyl CoA dehydrogenase deficiency. ( 12512097 )
2003
27
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency? ( 12971423 )
2003
28
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12872842 )
2003
29
[LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]. ( 12637776 )
2002
30
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. ( 11773547 )
2002
31
Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12537820 )
2001
32
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 11719334 )
2001
33
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings. ( 10653342 )
2000
34
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. ( 10682306 )
2000
35
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls. ( 10789927 )
2000
36
Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 11040918 )
2000
37
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 10229030 )
1999
38
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities. ( 10638050 )
1999
39
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. ( 10331463 )
1999
40
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea. ( 10518285 )
1999
41
Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 10384386 )
1999
42
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. ( 10518286 )
1999
43
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey. ( 10234607 )
1999
44
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. ( 10518281 )
1999
45
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy. ( 9593380 )
1998
46
Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. ( 9663844 )
1998
47
Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. ( 9185222 )
1997
48
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations. ( 9266371 )
1997
49
Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 9240910 )
1997
50
Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 8803788 )
1996

Variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

71
# Symbol AA change Variation ID SNP ID
1 HADH p.Ala40Thr VAR_024079 rs137853101
2 HADH p.Asp57Glu VAR_024080 rs137853102

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HADH NM_005327.4(HADH): c.118G> A (p.Ala40Thr) single nucleotide variant Pathogenic rs137853101 GRCh37 Chromosome 4, 108911206: 108911206
2 HADH NM_005327.4(HADH): c.171C> A (p.Asp57Glu) single nucleotide variant Pathogenic rs137853102 GRCh37 Chromosome 4, 108930953: 108930953
3 GHRL NM_001134944.1(GHRL): c.178C> A (p.Leu60Met) single nucleotide variant Pathogenic,risk factor rs696217 GRCh37 Chromosome 3, 10331457: 10331457
4 HADH NM_001184705.2(HADH): c.676T> C (p.Tyr226His) single nucleotide variant Likely pathogenic rs146036912 GRCh37 Chromosome 4, 108948883: 108948883

Expression for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Search GEO for disease gene expression data for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency.

Pathways for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Pathways related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Fatty acid elongation hsa00062
2 Fatty acid degradation hsa00071
3 Valine, leucine and isoleucine degradation hsa00280
4 Lysine degradation hsa00310
5 Tryptophan metabolism hsa00380
6 Butanoate metabolism hsa00650

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

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 ACADM ACADVL ADIPOQ ETFDH GBA GCK
2 12.31 ADIPOQ GLUD1 INS PPARG
3
Show member pathways
12.27 ACADM ACADVL ADIPOQ HADH HADHA PPARA
4
Show member pathways
12.12 ACADM GCK GLUD1 HADHA
6 11.98 ACADM GCK HADHA
7
Show member pathways
11.93 ADIPOQ INS PPARG
8 11.88 ADIPOQ INS PPARA PPARG
9
Show member pathways
11.81 ACADM HADH HADHA
10 11.71 ADIPOQ INS PPARG
11
Show member pathways
11.7 ACADM ACADVL HADH HADHA
12
Show member pathways
11.69 ADIPOQ GCK INS
13 11.65 ACADM GLUD1 HADH
14 11.56 ACADM ADIPOQ PPARA PPARG
15
Show member pathways
11.49 ACADM ACADVL HADH HADHA
16
Show member pathways
11.28 ACADM ACADVL HADH HADHA
17 11.16 PPARA PPARG
18
Show member pathways
11.14 ACADM HADHA
19 11.11 ACADM HADHA
20 11.01 ACADM PPARA
21 10.98 ADIPOQ PPARG
22 10.91 ADIPOQ PPARG
23 10.66 ACADM ACADVL GCK HADH INS
24
Show member pathways
10.5 ACADM HADH HADHA

GO Terms for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Cellular components related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.56 ACADVL ETFDH HADH HADHA
2 mitochondrion GO:0005739 9.5 ACADM ACADVL ETFDH GCK GLUD1 HADH
3 mitochondrial membrane GO:0031966 9.33 ACADM ACADVL ETFDH
4 mitochondrial matrix GO:0005759 9.02 ACADM ACADVL ETFDH GLUD1 HADH

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.95 ACADM ACADVL GBA GCK HADHA
2 oxidation-reduction process GO:0055114 9.95 ACADM ACADVL ETFDH GLUD1 HADH HADHA
3 response to drug GO:0042493 9.91 ADIPOQ HADH HADHA PPARG
4 regulation of lipid metabolic process GO:0019216 9.78 ACADM PPARA PPARG
5 cellular response to insulin stimulus GO:0032869 9.77 ADIPOQ GCK PPARG
6 response to insulin GO:0032868 9.77 HADH HADHA PPARA
7 glucose homeostasis GO:0042593 9.76 ADIPOQ GCK INS PPARG
8 response to estrogen GO:0043627 9.75 GBA GHRL PPARG
9 negative regulation of inflammatory response GO:0050728 9.73 ADIPOQ GBA GHRL PPARA
10 positive regulation of insulin secretion GO:0032024 9.7 GCK GHRL GLUD1
11 response to cold GO:0009409 9.69 ACADM ACADVL PPARG
12 response to starvation GO:0042594 9.65 ACADM PPARG
13 negative regulation of smooth muscle cell proliferation GO:0048662 9.65 ADIPOQ PPARG
14 positive regulation of glucose import GO:0046326 9.65 ADIPOQ INS
15 negative regulation of blood pressure GO:0045776 9.64 ADIPOQ PPARA
16 negative regulation of insulin secretion GO:0046676 9.64 GHRL HADH
17 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.63 ADIPOQ PPARG
18 positive regulation of cellular protein metabolic process GO:0032270 9.63 ADIPOQ INS
19 fatty acid oxidation GO:0019395 9.62 ADIPOQ PPARG
20 positive regulation of glycogen biosynthetic process GO:0045725 9.62 GCK INS
21 negative regulation of acute inflammatory response GO:0002674 9.58 INS PPARG
22 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.58 ACADM ACADVL ETFDH
23 negative regulation of cholesterol storage GO:0010887 9.57 PPARA PPARG
24 positive regulation of fatty acid oxidation GO:0046321 9.56 PPARA PPARG
25 glucose metabolic process GO:0006006 9.56 ADIPOQ GCK GHRL INS
26 fatty acid metabolic process GO:0006631 9.55 ACADM ACADVL HADH HADHA PPARA
27 negative regulation of sequestering of triglyceride GO:0010891 9.54 PPARA PPARG
28 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.54 ADIPOQ PPARA PPARG
29 negative regulation of gluconeogenesis GO:0045721 9.5 ADIPOQ GCK INS
30 lipid metabolic process GO:0006629 9.5 ACADM ACADVL GBA HADH HADHA PPARA
31 negative regulation of receptor biosynthetic process GO:0010871 9.49 PPARA PPARG
32 fatty acid beta-oxidation GO:0006635 9.02 ACADM ACADVL ADIPOQ HADH HADHA

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.83 ACADM ADIPOQ GLUD1 INS PPARG
2 hormone activity GO:0005179 9.43 ADIPOQ GHRL INS
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.4 ACADM ACADVL
4 NAD+ binding GO:0070403 9.37 GLUD1 HADH
5 acyl-CoA dehydrogenase activity GO:0003995 9.32 ACADM ACADVL
6 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.16 HADH HADHA
7 flavin adenine dinucleotide binding GO:0050660 9.13 ACADM ACADVL ETFDH
8 oxidoreductase activity GO:0016491 9.1 ACADM ACADVL ETFDH GLUD1 HADH HADHA

Sources for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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