Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
HADH DEFICIENCY
MCID: 3HY005
MIFTS: 67

3-Hydroxyacyl-Coa Dehydrogenase Deficiency (HADH 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

About this section

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 Heparin and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and testes, 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

About this section

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

(show top 50) (show all 1113)
# Related Disease Score Top Affiliating Genes
1 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 34.5 ACADM ACADVL HADH HADHA
2 glucose metabolism disease 32.5 ADIPOQ GCK GHRL INS LEP NOS3
3 acquired metabolic disease 32.3 ADIPOQ GCK GHRL INS LEP NOS3
4 inherited metabolic disorder 31.4 ADIPOQ GBA INS LEP
5 diabetes mellitus 31.1 ADIPOQ GCK GHRL INS LEP NOS3
6 diabetes mellitus, noninsulin-dependent 30.9 ADIPOQ GCK GHRL INS LEP NOS3
7 hypoglycemia 30.6 ACADM ACADVL GCK GLUD1 HADH INS
8 hyperinsulinemic hypoglycemia 30.6 GCK GLUD1 HADH INS
9 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.5 ADIPOQ INS
10 hyperinsulinism 30.4 GCK GHRL GLUD1 HADH INS LEP
11 fatty liver disease 30.3 ADIPOQ INS LEP PPARA
12 liver disease 30.0 ADIPOQ FAH INS LEP PPARA
13 carnitine palmitoyltransferase i deficiency 29.9 ACADVL HADH HADHA
14 lipid metabolism disorder 29.9 ADIPOQ INS LEP PPARA PPARG
15 body mass index quantitative trait locus 11 29.8 ADIPOQ ADRB2 GCK GHRL INS LEP
16 acyl-coa dehydrogenase, medium-chain, deficiency of 29.7 ACADM ACADVL HADHA
17 acyl-coa dehydrogenase, very long-chain, deficiency of 29.7 ACADVL HADH HADHA
18 hyperinsulinemic hypoglycemia, familial, 6 29.6 GLUD1 HADH HADHA INS
19 lipid storage disease 29.5 ADIPOQ GBA INS
20 familial hyperlipidemia 29.5 GBA INS PPARA
21 carnitine deficiency, systemic primary 29.5 ACADVL ETFDH
22 lipodystrophy, congenital generalized, type 1 29.4 ADIPOQ INS LEP
23 nonalcoholic steatohepatitis 29.4 ADIPOQ INS LEP
24 hyperthyroidism 29.4 GHRL INS LEP
25 lipodystrophy, familial partial, type 1 29.4 INS LEP PPARG
26 endocrine pancreas disease 29.3 ADIPOQ GCK HADH INS LEP
27 acquired generalized lipodystrophy 29.2 ADIPOQ INS LEP PPARG
28 sleep apnea 29.2 ADIPOQ GHRL INS LEP NOS3
29 apnea, obstructive sleep 29.2 ADIPOQ INS LEP
30 eating disorder 29.2 ADIPOQ GHRL LEP
31 morbid obesity 29.1 ADIPOQ GHRL INS LEP PPARG
32 gestational diabetes 29.1 ADIPOQ GCK INS LEP
33 arteriosclerosis 29.1 ADIPOQ INS PPARA PPARG
34 pre-eclampsia 29.0 ADIPOQ HADHA LEP NOS3
35 acanthosis nigricans 29.0 ADIPOQ INS LEP PPARG
36 hyperglycemia 28.8 ADIPOQ GCK INS LEP NOS3 PPARG
37 overnutrition 28.7 ADIPOQ GHRL INS LEP PPARA PPARG
38 nonalcoholic fatty liver disease 28.6 ADIPOQ INS LEP MIR122 MIR33A PPARA
39 mineral metabolism disease 12.3
40 iron metabolism disease 12.1
41 plasma protein metabolism disease 12.1
42 phosphorus metabolism disease 12.0
43 mitochondrial metabolism disease 12.0
44 histidine metabolism disease 12.0
45 3-alpha hydroxyacyl-coa dehydrogenase deficiency 12.0
46 hyperinsulinemic hypoglycemia, familial, 4 11.4
47 tay-sachs disease 11.2
48 hyperprolactinemia 11.2
49 amyloidosis 11.2
50 galactosemia 11.2

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 14)
# 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 myoglobinuria 32 HP:0002913
8 hypoglycemic seizures 32 HP:0002173
9 hypoketotic hypoglycemia 32 HP:0001985
10 dicarboxylic aciduria 32 HP:0003215
11 decreased activity of 3-hydroxyacyl-coa dehydrogenase 32 HP:0100950
12 hypoglycemic encephalopathy 32 HP:0006929
13 hepatic necrosis 32 HP:0002605
14 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 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 ACADM ACADVL ADIPOQ ADRB2 FAH GBA
2 growth/size/body region MP:0005378 10.28 ACADVL ADIPOQ ADRB2 FAH GBA GCK
3 cardiovascular system MP:0005385 10.26 ACADM ACADVL ADIPOQ ADRB2 ETFDH GBA
4 behavior/neurological MP:0005386 10.24 ACADVL ADIPOQ ADRB2 ETFDH FAH GBA
5 adipose tissue MP:0005375 10.21 ACADVL ADIPOQ ADRB2 GHRL HADH INS
6 endocrine/exocrine gland MP:0005379 10.21 ADIPOQ ADRB2 FAH GBA GCK GHRL
7 cellular MP:0005384 10.2 ACADVL ADIPOQ ADRB2 FAH GBA HADH
8 liver/biliary system MP:0005370 10.07 ACADM ACADVL ADIPOQ FAH GBA GCK
9 immune system MP:0005387 10.02 ADIPOQ ADRB2 FAH GBA HGD INS
10 mortality/aging MP:0010768 9.97 ACADM ACADVL ADIPOQ ETFDH FAH GBA
11 muscle MP:0005369 9.65 ACADM ACADVL ADIPOQ ADRB2 HADHA INS
12 renal/urinary system MP:0005367 9.32 ADIPOQ FAH GCK HADH HADHA HGD
Sources

Drugs & Therapeutics for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

About this section

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

About this section

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

About this section

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

41
Liver, Bone, Testes, Kidney, Skin, Brain, Lymph Node
Sources

Publications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

About this section

Articles related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 74)
# Title Authors Year
1
Follow-up and multimodal imaging in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 30364125 )
2018
2
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
3
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function. ( 27461099 )
2016
4
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy. ( 27078015 )
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
Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function. ( 27639177 )
2016
7
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. ( 26896063 )
2016
8
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 26676313 )
2016
9
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 26024122 )
2015
10
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 23430524 )
2013
11
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. ( 23430857 )
2012
12
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. ( 22579592 )
2012
13
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. ( 21347589 )
2011
14
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. ( 20670938 )
2010
15
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. ( 20814823 )
2010
16
[Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. ( 19107076 )
2008
17
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor. ( 18465739 )
2008
18
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Presentation of a long-term survivor. ( 28221621 )
2008
19
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up. ( 18162058 )
2008
20
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with inadvertent caries in infants. ( 17181583 )
2007
21
Ten year follow up of pigmentary retinopathy associated with 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 16167072 )
2006
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
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. ( 11489939 )
2001
34
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings. ( 10653342 )
2000
35
Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 11040918 )
2000
36
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. ( 10682306 )
2000
37
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls. ( 10789927 )
2000
38
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey. ( 10234607 )
1999
39
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. ( 10518286 )
1999
40
Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 10384386 )
1999
41
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 10229030 )
1999
42
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities. ( 10638050 )
1999
43
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. ( 10518281 )
1999
44
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea. ( 10518285 )
1999
45
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. ( 10331463 )
1999
46
Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. ( 9663844 )
1998
47
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy. ( 9593380 )
1998
48
Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. ( 9185222 )
1997
49
L-3-hydroxyacyl-CoA dehydrogenase deficiency: two cases with pigmentary retinopathy. ( 9427163 )
1997
50
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations. ( 9266371 )
1997
Sources

Variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

About this section

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 69)
# 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 NOS3 NM_000603.4(NOS3): c.894T> G (p.Asp298Glu) single nucleotide variant Benign rs1799983 GRCh37 Chromosome 7, 150696111: 150696111
10 NOS3 NM_000603.4(NOS3): c.894T> G (p.Asp298Glu) single nucleotide variant Benign rs1799983 GRCh38 Chromosome 7, 150999023: 150999023
11 ADRB2 NM_000024.5(ADRB2): c.46A> G (p.Arg16Gly) single nucleotide variant risk factor rs1042713 GRCh37 Chromosome 5, 148206440: 148206440
12 ADRB2 NM_000024.5(ADRB2): c.46A> G (p.Arg16Gly) single nucleotide variant risk factor rs1042713 GRCh38 Chromosome 5, 148826877: 148826877
13 ADRB2 NM_000024.5(ADRB2): c.79C> G (p.Gln27Glu) single nucleotide variant risk factor rs1042714 GRCh37 Chromosome 5, 148206473: 148206473
14 ADRB2 NM_000024.5(ADRB2): c.79C> G (p.Gln27Glu) single nucleotide variant risk factor rs1042714 GRCh38 Chromosome 5, 148826910: 148826910
15 LMNA NM_170707.3(LMNA): c.1892G> A (p.Gly631Asp) single nucleotide variant Uncertain significance rs267607648 GRCh37 Chromosome 1, 156108472: 156108472
16 LMNA NM_170707.3(LMNA): c.1892G> A (p.Gly631Asp) single nucleotide variant Uncertain significance rs267607648 GRCh38 Chromosome 1, 156138681: 156138681
17 HADH NM_001184705.2(HADH): c.676T> C (p.Tyr226His) single nucleotide variant Likely pathogenic rs146036912 GRCh38 Chromosome 4, 108027727: 108027727
18 HADH NM_001184705.2(HADH): c.676T> C (p.Tyr226His) single nucleotide variant Likely pathogenic rs146036912 GRCh37 Chromosome 4, 108948883: 108948883
19 HADH NM_001184705.2(HADH): c.636+13G> A single nucleotide variant Benign/Likely benign rs17511214 GRCh37 Chromosome 4, 108944732: 108944732
20 HADH NM_001184705.2(HADH): c.636+13G> A single nucleotide variant Benign/Likely benign rs17511214 GRCh38 Chromosome 4, 108023576: 108023576
21 HADH NM_005327.4(HADH): c.-51delC deletion Uncertain significance rs574132278 GRCh38 Chromosome 4, 107989882: 107989882
22 HADH NM_005327.4(HADH): c.-51delC deletion Uncertain significance rs574132278 GRCh37 Chromosome 4, 108911038: 108911038
23 HADH NM_005327.4(HADH): c.-38T> C single nucleotide variant Benign rs17550794 GRCh38 Chromosome 4, 107989895: 107989895
24 HADH NM_005327.4(HADH): c.-38T> C single nucleotide variant Benign rs17550794 GRCh37 Chromosome 4, 108911051: 108911051
25 HADH NM_005327.4(HADH): c.21G> A (p.Gln7=) single nucleotide variant Uncertain significance rs886058980 GRCh38 Chromosome 4, 107989953: 107989953
26 HADH NM_005327.4(HADH): c.21G> A (p.Gln7=) single nucleotide variant Uncertain significance rs886058980 GRCh37 Chromosome 4, 108911109: 108911109
27 HADH NM_005327.4(HADH): c.240G> A (p.Lys80=) single nucleotide variant Uncertain significance rs748623569 GRCh38 Chromosome 4, 108009866: 108009866
28 HADH NM_005327.4(HADH): c.240G> A (p.Lys80=) single nucleotide variant Uncertain significance rs748623569 GRCh37 Chromosome 4, 108931022: 108931022
29 HADH NM_005327.4(HADH): c.*305T> A single nucleotide variant Uncertain significance rs3822294 GRCh38 Chromosome 4, 108034662: 108034662
30 HADH NM_005327.4(HADH): c.*305T> A single nucleotide variant Uncertain significance rs3822294 GRCh37 Chromosome 4, 108955818: 108955818
31 HADH NM_005327.4(HADH): c.*661dupT duplication Uncertain significance rs886058981 GRCh38 Chromosome 4, 108035018: 108035018
32 HADH NM_005327.4(HADH): c.*661dupT duplication Uncertain significance rs886058981 GRCh37 Chromosome 4, 108956174: 108956174
33 HADH NM_005327.4(HADH): c.-193G> A single nucleotide variant Likely benign rs10017687 GRCh37 Chromosome 4, 108910896: 108910896
34 HADH NM_005327.4(HADH): c.-193G> A single nucleotide variant Likely benign rs10017687 GRCh38 Chromosome 4, 107989740: 107989740
35 HADH NM_005327.4(HADH): c.-71C> T single nucleotide variant Likely benign rs760202 GRCh37 Chromosome 4, 108911018: 108911018
36 HADH NM_005327.4(HADH): c.-71C> T single nucleotide variant Likely benign rs760202 GRCh38 Chromosome 4, 107989862: 107989862
37 HADH NM_005327.4(HADH): c.-36C> T single nucleotide variant Uncertain significance rs746854470 GRCh38 Chromosome 4, 107989897: 107989897
38 HADH NM_005327.4(HADH): c.-36C> T single nucleotide variant Uncertain significance rs746854470 GRCh37 Chromosome 4, 108911053: 108911053
39 HADH NM_005327.4(HADH): c.291G> T (p.Leu97=) single nucleotide variant Conflicting interpretations of pathogenicity rs552317372 GRCh38 Chromosome 4, 108014460: 108014460
40 HADH NM_005327.4(HADH): c.291G> T (p.Leu97=) single nucleotide variant Conflicting interpretations of pathogenicity rs552317372 GRCh37 Chromosome 4, 108935616: 108935616
41 HADH NM_005327.4(HADH): c.*600C> T single nucleotide variant Uncertain significance rs544321475 GRCh38 Chromosome 4, 108034957: 108034957
42 HADH NM_005327.4(HADH): c.*600C> T single nucleotide variant Uncertain significance rs544321475 GRCh37 Chromosome 4, 108956113: 108956113
43 HADH NM_005327.4(HADH): c.*818A> G single nucleotide variant Likely benign rs17511319 GRCh38 Chromosome 4, 108035175: 108035175
44 HADH NM_005327.4(HADH): c.*818A> G single nucleotide variant Likely benign rs17511319 GRCh37 Chromosome 4, 108956331: 108956331
45 HADH NM_005327.4(HADH): c.-195A> C single nucleotide variant Uncertain significance rs886058979 GRCh37 Chromosome 4, 108910894: 108910894
46 HADH NM_005327.4(HADH): c.-195A> C single nucleotide variant Uncertain significance rs886058979 GRCh38 Chromosome 4, 107989738: 107989738
47 HADH NM_005327.4(HADH): c.-115delG deletion Uncertain significance rs537335460 GRCh37 Chromosome 4, 108910974: 108910974
48 HADH NM_005327.4(HADH): c.-115delG deletion Uncertain significance rs537335460 GRCh38 Chromosome 4, 107989818: 107989818
49 HADH NM_005327.4(HADH): c.-102G> A single nucleotide variant Likely benign rs182097151 GRCh37 Chromosome 4, 108910987: 108910987
50 HADH NM_005327.4(HADH): c.-102G> A single nucleotide variant Likely benign rs182097151 GRCh38 Chromosome 4, 107989831: 107989831
Sources

Expression for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

Pathways for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

About this section

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 24)
# 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
Prolactin Signaling Pathway 1 37
Show member pathways
 12.34 GCK INS LEP NOS3
4
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 66
Show member pathways
 12.33 ACADM ACADVL ADIPOQ HADH HADHA LEP
5
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.29 ADIPOQ INS LEP PPARG
6
Carbon metabolism 37
Show member pathways
 12.17 ACADM GCK GLUD1 HADHA
8
Valine, leucine and isoleucine degradation 37
Show member pathways
 11.87 ACADM HADH HADHA
9
Insulin resistance 37
Show member pathways
 11.81 INS NOS3 PPARA
10
Fatty acid metabolism 37
Show member pathways
 11.78 ACADM ACADVL HADH HADHA
11
Adipogenesis 1
11.78 ADIPOQ INS LEP PPARA PPARG
12
Amino Acid metabolism 1
11.75 ACADM FAH GLUD1 HADH
13
Type II diabetes mellitus 37 1
Show member pathways
 11.74 ADIPOQ GCK INS
14
Sterol Regulatory Element-Binding Proteins (SREBP) signalling 1
11.61 INS MIR33A PPARG
15
PPAR signaling pathway 37
11.6 ACADM ADIPOQ PPARA PPARG
16
Adipocytokine signaling pathway 37
11.57 ADIPOQ LEP PPARA
17
Mitochondrial Fatty Acid Beta-Oxidation 66
Show member pathways
 11.52 ACADM ACADVL HADH HADHA
18
Mitochondrial LC-Fatty Acid Beta-Oxidation 1
Show member pathways
 11.39 ACADM ACADVL HADH HADHA
19
Nuclear Receptors in Lipid Metabolism and Toxicity 1
11.26 MIR33A PPARA PPARG
20
Differentiation of white and brown adipocyte 1
11.1 ADIPOQ LEP PPARG
21
Transcription factor regulation in adipogenesis 1
11 ADIPOQ LEP PPARG
22
SREBF and miR33 in cholesterol and lipid homeostasis 1
10.89 MIR33A PPARA
23
FOXA2 and FOXA3 transcription factor networks 1
10.66 ACADM ACADVL GCK HADH INS
24
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 mitochondrion GO:0005739 9.5 ACADM ACADVL ETFDH GCK GLUD1 HADH
2 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 49)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.92 ACADM ACADVL GBA HADH HADHA LEP
2 cellular response to insulin stimulus GO:0032869 9.85 ADIPOQ GCK PPARG
3 regulation of lipid metabolic process GO:0019216 9.85 ACADM PPARA PPARG
4 response to nutrient GO:0007584 9.85 ADIPOQ LEP PPARG
5 negative regulation of inflammatory response GO:0050728 9.83 ADIPOQ GBA GHRL PPARA
6 response to estrogen GO:0043627 9.82 GBA GHRL PPARG
7 regulation of blood pressure GO:0008217 9.81 LEP NOS3 PPARG
8 response to insulin GO:0032868 9.81 HADH HADHA LEP PPARA
9 response to hormone GO:0009725 9.8 GHRL HADH NOS3
10 response to nutrient levels GO:0031667 9.8 ADIPOQ GHRL LEP
11 hormone-mediated signaling pathway GO:0009755 9.77 GHRL PPARA PPARG
12 positive regulation of cold-induced thermogenesis GO:0120162 9.77 ADIPOQ ADRB2 GHRL HADH LEP
13 positive regulation of insulin secretion GO:0032024 9.74 GCK GHRL GLUD1
14 response to activity GO:0014823 9.73 ADIPOQ HADH LEP
15 fatty acid metabolic process GO:0006631 9.73 ACADM ACADVL HADH HADHA PPARA PPARG
16 regulation of nitric-oxide synthase activity GO:0050999 9.71 LEP NOS3
17 negative regulation of blood pressure GO:0045776 9.71 ADIPOQ NOS3 PPARA
18 response to cold GO:0009409 9.71 ACADM ACADVL ADRB2 PPARG
19 regulation of sodium ion transport GO:0002028 9.7 ADRB2 NOS3
20 negative regulation of fatty acid biosynthetic process GO:0045717 9.7 ACADVL MIR33A
21 positive regulation of cellular protein metabolic process GO:0032270 9.7 ADIPOQ INS
22 positive regulation of glycogen biosynthetic process GO:0045725 9.69 GCK INS
23 positive regulation of insulin receptor signaling pathway GO:0046628 9.69 INS LEP
24 regulation of fat cell differentiation GO:0045598 9.69 LEP PPARG
25 fatty acid catabolic process GO:0009062 9.68 ACADVL LEP
26 fatty acid oxidation GO:0019395 9.68 ADIPOQ PPARG
27 regulation of gluconeogenesis GO:0006111 9.67 ACADM LEP
28 L-phenylalanine catabolic process GO:0006559 9.67 FAH HGD
29 negative regulation of gluconeogenesis GO:0045721 9.67 ADIPOQ GCK INS
30 adult feeding behavior GO:0008343 9.66 GHRL LEP
31 cellular response to leptin stimulus GO:0044320 9.66 GCK LEP
32 positive regulation of protein kinase A signaling GO:0010739 9.65 ADIPOQ ADRB2
33 negative regulation of appetite GO:0032099 9.65 LEP PPARA
34 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.65 ADIPOQ PPARA PPARG
35 negative regulation of cholesterol storage GO:0010887 9.64 PPARA PPARG
36 ovulation from ovarian follicle GO:0001542 9.64 LEP NOS3
37 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.63 ACADM ACADVL ETFDH
38 arginine catabolic process GO:0006527 9.62 FAH NOS3
39 negative regulation of acute inflammatory response GO:0002674 9.61 INS PPARG
40 positive regulation of fatty acid oxidation GO:0046321 9.61 PPARA PPARG
41 negative regulation of sequestering of triglyceride GO:0010891 9.59 PPARA PPARG
42 positive regulation of cAMP-dependent protein kinase activity GO:2000481 9.58 ADIPOQ ADRB2
43 tyrosine catabolic process GO:0006572 9.58 FAH HGD
44 negative regulation of receptor biosynthetic process GO:0010871 9.55 PPARA PPARG
45 glucose metabolic process GO:0006006 9.55 ADIPOQ GCK GHRL INS LEP
46 glucose homeostasis GO:0042593 9.43 ADIPOQ GCK INS LEP MIR33A PPARG
47 fatty acid beta-oxidation GO:0006635 9.1 ACADM ACADVL ADIPOQ HADH HADHA LEP
48 oxidation-reduction process GO:0055114 10.03 ACADM ACADVL ETFDH GLUD1 HADH HADHA
49 response to drug GO:0042493 10 ADIPOQ HADH HADHA PPARG

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.46 ADIPOQ GHRL INS LEP
2 fatty-acyl-CoA binding GO:0000062 9.4 ACADVL HADHA
3 NAD+ binding GO:0070403 9.37 GLUD1 HADH
4 acyl-CoA dehydrogenase activity GO:0003995 9.32 ACADM ACADVL
5 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.26 HADH HADHA
6 flavin adenine dinucleotide binding GO:0050660 9.26 ACADM ACADVL ETFDH NOS3
7 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
Content
Loading form....