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MCID: 3HY005
MIFTS: 59

3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Categories: Genetic diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

Name: 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 57 76 25 37 13 40 73
Deficiency of 3-Hydroxyacyl-Coa Dehydrogenase 25 29 6
Hadh Deficiency 57 25 75
Metabolic Diseases 44 73
Schad Deficiency 25 75
Had Deficiency 25 75
L-3-Alpha-Hydroxyacyl-Coa Dehydrogenase, Short Chain, Deficiency 25
3-Alpha-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 25
3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 25
3-Alpha-Hydroxyacyl-Coa Dehydrogenase Deficiency 75
Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 75
Schad Deficiency, Formerly 57
M/schad Deficiency 25
Hadhsc Deficiency 25

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
sudden infant death may occur


HPO:

32
3-hydroxyacyl-coa dehydrogenase deficiency:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases
See all MalaCards categories (disease lists)
ICD10: 33


Sources

Summaries for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

About this section
UniProtKB/Swiss-Prot : 75 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency: An autosomal recessive, 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 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency and glucose metabolism disease, and has symptoms including emaciation 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 feeding difficulties in infancy and hypertrophic cardiomyopathy

Genetics Home Reference : 25 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 : 76 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADH deficiency) is a rare condition that prevents... more...

Description from OMIM: 231530
Sources

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 top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 34.9 ACADM ACADVL HADH HADHA
2 glucose metabolism disease 31.9 ADIPOQ GCK GHRL INS LEP PPARG
3 acquired metabolic disease 31.3 ADIPOQ GCK GHRL INS LEP PPARA
4 phenylketonuria 30.6 ACADM HADHA PAH
5 diabetes mellitus 30.3 ADIPOQ GCK INS LEP PPARA PPARG
6 diabetes mellitus, noninsulin-dependent 30.1 ADIPOQ GCK GHRL INS LEP PPARA
7 hyperinsulinism 29.9 GCK GHRL GLUD1 HADH INS LEP
8 inherited metabolic disorder 29.8 ADIPOQ GBA INS LEP PAH
9 fatty liver disease 29.4 ADIPOQ INS LEP PPARA PPARG
10 liver disease 29.0 ADIPOQ FAH HADHA INS LEP PPARA
11 mineral metabolism disease 12.1
12 iron metabolism disease 12.0
13 plasma protein metabolism disease 12.0
14 phosphorus metabolism disease 11.9
15 mitochondrial metabolism disease 11.9
16 histidine metabolism disease 11.9
17 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 11.8
18 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.8
19 tay-sachs disease 11.1
20 amyloidosis 11.0
21 molybdenum cofactor deficiency 11.0
22 diabetes mellitus, insulin-dependent 10.9
23 hypocalcemia, autosomal dominant 1 10.9
24 pyruvate dehydrogenase e1-alpha deficiency 10.8
25 hyperprolactinemia 10.8
26 d-glyceric aciduria 10.8
27 fructose intolerance, hereditary 10.8
28 hemochromatosis, neonatal 10.8
29 histidinemia 10.8
30 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.8
31 succinyl-coa:3-oxoacid-coa transferase deficiency 10.8
32 malonyl-coa decarboxylase deficiency 10.8
33 mannosidosis, alpha b, lysosomal 10.8
34 3-hydroxyisobutyryl-coa hydrolase deficiency 10.8
35 alpha-1-antitrypsin deficiency 10.8
36 combined malonic and methylmalonic aciduria 10.8
37 acyl-coa dehydrogenase, medium-chain, deficiency of 10.7 ACADM ACADVL HADHA
38 acyl-coa dehydrogenase, very long-chain, deficiency of 10.7 ACADVL HADH HADHA
39 maturity-onset diabetes of the young, type 2 10.7 GCK INS
40 craniosynostosis 10.6
41 mitochondrial complex i deficiency 10.5
42 mitochondrial complex ii deficiency 10.5
43 myopathy with lactic acidosis, hereditary 10.5
44 leigh syndrome 10.5
45 mohr-tranebjaerg syndrome 10.5
46 pearson marrow-pancreas syndrome 10.5
47 encephalopathy, ethylmalonic 10.5
48 aceruloplasminemia 10.5
49 bile acid synthesis defect, congenital, 1 10.5
50 thiopurines, poor metabolism of, 1 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
Sources

Symptoms & Phenotypes for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

About this section

Symptoms via clinical synopsis from OMIM:

57
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 Gastrointestinal:
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:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 feeding difficulties in infancy 32 HP:0008872
2 hypertrophic cardiomyopathy 32 HP:0001639
3 growth delay 32 HP:0001510
4 hepatic steatosis 32 HP:0001397
5 dilated cardiomyopathy 32 HP:0001644
6 generalized hypotonia 32 HP:0001290
7 hypoglycemic seizures 32 HP:0002173
8 hypoketotic hypoglycemia 32 HP:0001985
9 myoglobinuria 32 HP:0002913
10 dicarboxylic aciduria 32 HP:0003215
11 hypoglycemic encephalopathy 32 HP:0006929
12 hepatic necrosis 32 HP:0002605
13 fulminant hepatic failure 32 HP:0004448

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


emaciation

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 ACADM ACADVL ADIPOQ ADRB2 FAH GBA
2 growth/size/body region MP:0005378 10.24 ACADVL ADIPOQ ADRB2 FAH GBA GCK
3 behavior/neurological MP:0005386 10.2 ACADVL ADIPOQ ADRB2 ETFDH FAH GBA
4 cardiovascular system MP:0005385 10.17 ADRB2 ETFDH GBA HADHA INS LEP
5 endocrine/exocrine gland MP:0005379 10.14 ADIPOQ ADRB2 FAH GBA GCK GHRL
6 adipose tissue MP:0005375 10.13 ACADVL ADIPOQ GHRL HADH INS LEP
7 liver/biliary system MP:0005370 10.03 ACADVL ADIPOQ FAH GBA GCK HADHA
8 mortality/aging MP:0010768 9.93 ACADM ACADVL ADIPOQ ETFDH FAH GBA
9 muscle MP:0005369 9.61 ACADM ACADVL ADIPOQ ADRB2 HADHA INS
10 renal/urinary system MP:0005367 9.32 ADIPOQ FAH GCK HADH HADHA HGD
Sources

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 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Not Applicable 56-81-5 753
2
Heparin Approved, Investigational Not Applicable 9005-49-6 772 46507594
3 Anticoagulants Not Applicable
4 calcium heparin Not Applicable
5 Calcium, Dietary Not Applicable
6 Fat Emulsions, Intravenous Not Applicable
7 Fibrinolytic Agents Not Applicable
8 Hypoglycemic Agents Not Applicable
9 insulin Not Applicable
10 Insulin, Globin Zinc Not Applicable
11 Parenteral Nutrition Solutions Not Applicable
12 Pharmaceutical Solutions Not Applicable
13 Protective Agents Not Applicable
14 Soybean oil, phospholipid emulsion Not Applicable
15 Soy Bean Nutraceutical Not Applicable

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 Not Applicable Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
3 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable

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

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: metabolic diseases

Sources

Genetic Tests for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

# Genetic test Affiliating Genes
1 Deficiency of 3-Hydroxyacyl-Coa Dehydrogenase 29 HADH
Sources

Anatomical Context for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

41
Liver, Brain, Eye, Skeletal Muscle, Fetal Liver
Sources

Publications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

About this section

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
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function. ( 27461099 )
2016
3
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy. ( 27078015 )
2016
4
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients. ( 26653362 )
2016
5
Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function. ( 27639177 )
2016
6
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. ( 26896063 )
2016
7
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 26676313 )
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
[Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. ( 19107076 )
2008
16
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor. ( 18465739 )
2008
17
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Presentation of a long-term survivor. ( 28221621 )
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
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12872842 )
2003
23
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency? ( 12971423 )
2003
24
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
25
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). ( 12660866 )
2003
26
Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12971430 )
2003
27
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle? ( 14641012 )
2003
28
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12809642 )
2003
29
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. ( 11773547 )
2002
30
[LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]. ( 12637776 )
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
Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 11040918 )
2000
35
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. ( 10682306 )
2000
36
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls. ( 10789927 )
2000
37
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey. ( 10234607 )
1999
38
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. ( 10518286 )
1999
39
Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 10384386 )
1999
40
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 10229030 )
1999
41
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities. ( 10638050 )
1999
42
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. ( 10518281 )
1999
43
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea. ( 10518285 )
1999
44
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. ( 10331463 )
1999
45
Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. ( 9663844 )
1998
46
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy. ( 9593380 )
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
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation. ( 8938697 )
1996
Sources

Variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

75
# 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
(show top 50) (show all 61)
# Gene Variation Type Significance SNP ID Assembly Location
1 GHRL NM_001134944.1(GHRL): c.116G> A (p.Arg39Gln) single nucleotide variant risk factor rs34911341 GRCh37 Chromosome 3, 10331519: 10331519
2 GHRL NM_001134944.1(GHRL): c.116G> A (p.Arg39Gln) single nucleotide variant risk factor rs34911341 GRCh38 Chromosome 3, 10289835: 10289835
3 GHRL NM_001134944.1(GHRL): c.178C> A (p.Leu60Met) single nucleotide variant Pathogenic,risk factor rs696217 GRCh37 Chromosome 3, 10331457: 10331457
4 GHRL NM_001134944.1(GHRL): c.178C> A (p.Leu60Met) single nucleotide variant Pathogenic,risk factor rs696217 GRCh38 Chromosome 3, 10289773: 10289773
5 HADH NM_005327.4(HADH): c.118G> A (p.Ala40Thr) single nucleotide variant Pathogenic rs137853101 GRCh37 Chromosome 4, 108911206: 108911206
6 HADH NM_005327.4(HADH): c.118G> A (p.Ala40Thr) single nucleotide variant Pathogenic rs137853101 GRCh38 Chromosome 4, 107990050: 107990050
7 HADH NM_005327.4(HADH): c.171C> A (p.Asp57Glu) single nucleotide variant Pathogenic rs137853102 GRCh37 Chromosome 4, 108930953: 108930953
8 HADH NM_005327.4(HADH): c.171C> A (p.Asp57Glu) single nucleotide variant Pathogenic rs137853102 GRCh38 Chromosome 4, 108009797: 108009797
9 ADRB2 NM_000024.5(ADRB2): c.46A> G (p.Arg16Gly) single nucleotide variant risk factor rs1042713 GRCh37 Chromosome 5, 148206440: 148206440
10 ADRB2 NM_000024.5(ADRB2): c.46A> G (p.Arg16Gly) single nucleotide variant risk factor rs1042713 GRCh38 Chromosome 5, 148826877: 148826877
11 ADRB2 NM_000024.5(ADRB2): c.79C> G (p.Gln27Glu) single nucleotide variant risk factor rs1042714 GRCh37 Chromosome 5, 148206473: 148206473
12 ADRB2 NM_000024.5(ADRB2): c.79C> G (p.Gln27Glu) single nucleotide variant risk factor rs1042714 GRCh38 Chromosome 5, 148826910: 148826910
13 HADH NM_001184705.2(HADH): c.676T> C (p.Tyr226His) single nucleotide variant Likely pathogenic rs146036912 GRCh38 Chromosome 4, 108027727: 108027727
14 HADH NM_001184705.2(HADH): c.676T> C (p.Tyr226His) single nucleotide variant Likely pathogenic rs146036912 GRCh37 Chromosome 4, 108948883: 108948883
15 HADH NM_001184705.2(HADH): c.636+13G> A single nucleotide variant Likely benign rs17511214 GRCh37 Chromosome 4, 108944732: 108944732
16 HADH NM_001184705.2(HADH): c.636+13G> A single nucleotide variant Likely benign rs17511214 GRCh38 Chromosome 4, 108023576: 108023576
17 HADH NM_005327.4(HADH): c.-51delC deletion Uncertain significance rs574132278 GRCh38 Chromosome 4, 107989882: 107989882
18 HADH NM_005327.4(HADH): c.-51delC deletion Uncertain significance rs574132278 GRCh37 Chromosome 4, 108911038: 108911038
19 HADH NM_005327.4(HADH): c.-38T> C single nucleotide variant Benign rs17550794 GRCh38 Chromosome 4, 107989895: 107989895
20 HADH NM_005327.4(HADH): c.-38T> C single nucleotide variant Benign rs17550794 GRCh37 Chromosome 4, 108911051: 108911051
21 HADH NM_005327.4(HADH): c.21G> A (p.Gln7=) single nucleotide variant Uncertain significance rs886058980 GRCh38 Chromosome 4, 107989953: 107989953
22 HADH NM_005327.4(HADH): c.21G> A (p.Gln7=) single nucleotide variant Uncertain significance rs886058980 GRCh37 Chromosome 4, 108911109: 108911109
23 HADH NM_005327.4(HADH): c.240G> A (p.Lys80=) single nucleotide variant Uncertain significance rs748623569 GRCh38 Chromosome 4, 108009866: 108009866
24 HADH NM_005327.4(HADH): c.240G> A (p.Lys80=) single nucleotide variant Uncertain significance rs748623569 GRCh37 Chromosome 4, 108931022: 108931022
25 HADH NM_005327.4(HADH): c.*305T> A single nucleotide variant Uncertain significance rs3822294 GRCh38 Chromosome 4, 108034662: 108034662
26 HADH NM_005327.4(HADH): c.*305T> A single nucleotide variant Uncertain significance rs3822294 GRCh37 Chromosome 4, 108955818: 108955818
27 HADH NM_005327.4(HADH): c.*661dupT duplication Uncertain significance rs886058981 GRCh38 Chromosome 4, 108035018: 108035018
28 HADH NM_005327.4(HADH): c.*661dupT duplication Uncertain significance rs886058981 GRCh37 Chromosome 4, 108956174: 108956174
29 HADH NM_005327.4(HADH): c.-193G> A single nucleotide variant Likely benign rs10017687 GRCh37 Chromosome 4, 108910896: 108910896
30 HADH NM_005327.4(HADH): c.-193G> A single nucleotide variant Likely benign rs10017687 GRCh38 Chromosome 4, 107989740: 107989740
31 HADH NM_005327.4(HADH): c.-71C> T single nucleotide variant Likely benign rs760202 GRCh37 Chromosome 4, 108911018: 108911018
32 HADH NM_005327.4(HADH): c.-71C> T single nucleotide variant Likely benign rs760202 GRCh38 Chromosome 4, 107989862: 107989862
33 HADH NM_005327.4(HADH): c.-36C> T single nucleotide variant Uncertain significance rs746854470 GRCh38 Chromosome 4, 107989897: 107989897
34 HADH NM_005327.4(HADH): c.-36C> T single nucleotide variant Uncertain significance rs746854470 GRCh37 Chromosome 4, 108911053: 108911053
35 HADH NM_005327.4(HADH): c.291G> T (p.Leu97=) single nucleotide variant Conflicting interpretations of pathogenicity rs552317372 GRCh38 Chromosome 4, 108014460: 108014460
36 HADH NM_005327.4(HADH): c.291G> T (p.Leu97=) single nucleotide variant Conflicting interpretations of pathogenicity rs552317372 GRCh37 Chromosome 4, 108935616: 108935616
37 HADH NM_005327.4(HADH): c.*600C> T single nucleotide variant Uncertain significance rs544321475 GRCh38 Chromosome 4, 108034957: 108034957
38 HADH NM_005327.4(HADH): c.*600C> T single nucleotide variant Uncertain significance rs544321475 GRCh37 Chromosome 4, 108956113: 108956113
39 HADH NM_005327.4(HADH): c.*818A> G single nucleotide variant Likely benign rs17511319 GRCh38 Chromosome 4, 108035175: 108035175
40 HADH NM_005327.4(HADH): c.*818A> G single nucleotide variant Likely benign rs17511319 GRCh37 Chromosome 4, 108956331: 108956331
41 HADH NM_005327.4(HADH): c.-195A> C single nucleotide variant Uncertain significance rs886058979 GRCh37 Chromosome 4, 108910894: 108910894
42 HADH NM_005327.4(HADH): c.-195A> C single nucleotide variant Uncertain significance rs886058979 GRCh38 Chromosome 4, 107989738: 107989738
43 HADH NM_005327.4(HADH): c.-115delG deletion Uncertain significance rs537335460 GRCh37 Chromosome 4, 108910974: 108910974
44 HADH NM_005327.4(HADH): c.-115delG deletion Uncertain significance rs537335460 GRCh38 Chromosome 4, 107989818: 107989818
45 HADH NM_005327.4(HADH): c.-102G> A single nucleotide variant Likely benign rs182097151 GRCh37 Chromosome 4, 108910987: 108910987
46 HADH NM_005327.4(HADH): c.-102G> A single nucleotide variant Likely benign rs182097151 GRCh38 Chromosome 4, 107989831: 107989831
47 HADH NM_005327.4(HADH): c.*109T> A single nucleotide variant Likely benign rs221347 GRCh38 Chromosome 4, 108034466: 108034466
48 HADH NM_005327.4(HADH): c.*109T> A single nucleotide variant Likely benign rs221347 GRCh37 Chromosome 4, 108955622: 108955622
49 HADH NM_005327.4(HADH): c.-195A> G single nucleotide variant Uncertain significance rs886058979 GRCh37 Chromosome 4, 108910894: 108910894
50 HADH NM_005327.4(HADH): c.-195A> G single nucleotide variant Uncertain significance rs886058979 GRCh38 Chromosome 4, 107989738: 107989738
Sources

Expression for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

Pathways for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

37
# 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 25)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.66 ACADM ACADVL ADIPOQ ETFDH FAH GBA
2
Glucose / Energy Metabolism 4
12.4 ADIPOQ GLUD1 INS PPARG
3
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 66
Show member pathways
 12.33 ACADM ACADVL ADIPOQ HADH HADHA LEP
4
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.31 ADIPOQ INS LEP PPARG
5
Carbon metabolism 37
Show member pathways
 12.2 ACADM GCK GLUD1 HADHA PAH
7
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.07 ACADM GCK HADHA PAH
8
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism 66
Show member pathways
 11.89 FAH HGD PAH
9
Valine, leucine and isoleucine degradation 37
Show member pathways
 11.87 ACADM HADH HADHA
10
Fatty acid metabolism 37
Show member pathways
 11.79 ACADM ACADVL HADH HADHA
11
Adipogenesis 1
11.78 ADIPOQ INS LEP PPARA PPARG
12
Amino Acid metabolism 1
11.77 ACADM FAH GLUD1 HADH
13
Type II diabetes mellitus 37 1
Show member pathways
 11.76 ADIPOQ GCK INS
14
Tyrosine metabolism 37
Show member pathways
 11.64 FAH HGD PAH
15
Sterol Regulatory Element-Binding Proteins (SREBP) signalling 1
11.62 INS MIR33A PPARG
16
PPAR signaling pathway 37
11.59 ACADM ADIPOQ PPARA PPARG
17
Adipocytokine signaling pathway 37
11.58 ADIPOQ LEP PPARA
18
Mitochondrial Fatty Acid Beta-Oxidation 66
Show member pathways
 11.52 ACADM ACADVL HADH HADHA
19
Mitochondrial LC-Fatty Acid Beta-Oxidation 1
Show member pathways
 11.39 ACADM ACADVL HADH HADHA
20
Nuclear Receptors in Lipid Metabolism and Toxicity 1
11.27 MIR33A PPARA PPARG
21
Differentiation of white and brown adipocyte 1
11.11 ADIPOQ LEP PPARG
22
Transcription factor regulation in adipogenesis 1
11.01 ADIPOQ LEP PPARG
23
SREBF and miR33 in cholesterol and lipid homeostasis 1
10.89 MIR33A PPARA
24
FOXA2 and FOXA3 transcription factor networks 1
10.66 ACADM ACADVL GCK HADH INS
25
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA 66
Show member pathways
 10.5 ACADM HADH HADHA
Sources

GO Terms for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

About this section

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

# Name GO ID Score Top Affiliating Genes
1 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 43)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.99 ADIPOQ HADH HADHA PPARG
2 lipid metabolic process GO:0006629 9.92 ACADM ACADVL GBA HADH HADHA LEP
3 fatty acid metabolic process GO:0006631 9.91 ACADM ACADVL HADH HADHA PPARA
4 regulation of lipid metabolic process GO:0019216 9.85 ACADM PPARA PPARG
5 cellular response to insulin stimulus GO:0032869 9.84 ADIPOQ GCK PPARG
6 response to nutrient GO:0007584 9.83 ADIPOQ LEP PPARG
7 response to estrogen GO:0043627 9.81 GBA GHRL PPARG
8 negative regulation of inflammatory response GO:0050728 9.8 ADIPOQ GBA GHRL PPARA PPARG
9 positive regulation of insulin secretion GO:0032024 9.77 GCK GHRL GLUD1
10 glucose homeostasis GO:0042593 9.77 ADIPOQ GCK INS LEP PPARG
11 hormone-mediated signaling pathway GO:0009755 9.76 GHRL PPARA PPARG
12 response to activity GO:0014823 9.75 ADIPOQ HADH LEP
13 response to cold GO:0009409 9.73 ACADM ACADVL ADRB2 PPARG
14 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.72 ACADM ACADVL ETFDH
15 negative regulation of gluconeogenesis GO:0045721 9.71 ADIPOQ GCK INS
16 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.7 ADIPOQ PPARA PPARG
17 positive regulation of cellular protein metabolic process GO:0032270 9.69 ADIPOQ INS
18 positive regulation of insulin receptor signaling pathway GO:0046628 9.68 INS LEP
19 regulation of fat cell differentiation GO:0045598 9.68 LEP PPARG
20 positive regulation of glycogen biosynthetic process GO:0045725 9.68 GCK INS
21 fatty acid catabolic process GO:0009062 9.68 ACADVL LEP
22 fatty acid oxidation GO:0019395 9.67 ADIPOQ PPARG
23 L-phenylalanine catabolic process GO:0006559 9.67 FAH HGD PAH
24 regulation of gluconeogenesis GO:0006111 9.66 ACADM LEP
25 adult feeding behavior GO:0008343 9.65 GHRL LEP
26 positive regulation of protein kinase A signaling GO:0010739 9.65 ADIPOQ ADRB2
27 cellular response to leptin stimulus GO:0044320 9.65 GCK LEP
28 response to insulin GO:0032868 9.65 HADH HADHA INS LEP PPARA
29 negative regulation of appetite GO:0032099 9.64 LEP PPARA
30 aromatic amino acid family metabolic process GO:0009072 9.64 FAH PAH
31 negative regulation of acute inflammatory response GO:0002674 9.63 INS PPARG
32 positive regulation of fatty acid oxidation GO:0046321 9.62 PPARA PPARG
33 negative regulation of cholesterol storage GO:0010887 9.62 PPARA PPARG
34 tyrosine catabolic process GO:0006572 9.61 FAH HGD
35 negative regulation of sequestering of triglyceride GO:0010891 9.61 PPARA PPARG
36 positive regulation of cAMP-dependent protein kinase activity GO:2000481 9.6 ADIPOQ ADRB2
37 negative regulation of receptor biosynthetic process GO:0010871 9.57 PPARA PPARG
38 positive regulation of fatty acid metabolic process GO:0045923 9.56 ADIPOQ PPARA
39 glucose metabolic process GO:0006006 9.55 ADIPOQ GCK GHRL INS LEP
40 response to nutrient levels GO:0031667 9.35 ADIPOQ GHRL INS LEP PPARA
41 fatty acid beta-oxidation GO:0006635 9.1 ACADM ACADVL ADIPOQ HADH HADHA LEP
42 oxidation-reduction process GO:0055114 10.06 ACADM ACADVL ETFDH GLUD1 HADH HADHA
43 metabolic process GO:0008152 10.02 ACADM ACADVL FAH GBA GCK 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 9.93 ACADM ADIPOQ GLUD1 HGD INS PPARG
2 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 9.43 PPARA PPARG
3 fatty-acyl-CoA binding GO:0000062 9.4 ACADVL HADHA
4 NAD+ binding GO:0070403 9.37 GLUD1 HADH
5 flavin adenine dinucleotide binding GO:0050660 9.33 ACADM ACADVL ETFDH
6 acyl-CoA dehydrogenase activity GO:0003995 9.32 ACADM ACADVL
7 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.26 HADH HADHA
8 hormone activity GO:0005179 9.26 ADIPOQ GHRL INS LEP
9 oxidoreductase activity GO:0016491 9.23 ACADM ACADVL ETFDH GLUD1 HADH HADHA
Sources

Sources for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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