HADH DEFICIENCY
MCID: 3HY005
MIFTS: 62

3-Hydroxyacyl-Coa Dehydrogenase Deficiency (HADH DEFICIENCY)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

Name: 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 57 73 43 58 36 13 39 70
Deficiency of 3-Hydroxyacyl-Coa Dehydrogenase 43 29 6
Hadh Deficiency 57 43 72
Metabolic Diseases 44 70
Schad Deficiency 43 72
Had Deficiency 43 72
L-3-Alpha-Hydroxyacyl-Coa Dehydrogenase, Short Chain, Deficiency 43
3-Alpha-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 43
3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 43
3-Alpha-Hydroxyacyl-Coa Dehydrogenase Deficiency 72
Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 72
Schad Deficiency, Formerly 57
M/schad Deficiency 43
Hadhsc Deficiency 43

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
sudden infant death may occur


HPO:

31
3-hydroxyacyl-coa dehydrogenase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 231530
KEGG 36 H01364
MeSH 44 D008659
ICD10 via Orphanet 33 E71.3
UMLS via Orphanet 71 C1291230
Orphanet 58 ORPHA309127
MedGen 41 C1291230
UMLS 70 C0025517 C1291230

Summaries for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

MedlinePlus Genetics : 43 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).Initial signs and symptoms of this disorder typically occur during infancy or early childhood and can include poor appetite, vomiting, diarrhea, and lack of energy (lethargy). Affected individuals can also have muscle weakness (hypotonia), liver problems, low blood sugar (hypoglycemia), and abnormally high levels of insulin (hyperinsulinism). Insulin controls the amount of sugar that moves from the blood into cells for conversion to energy. Individuals with 3-hydroxyacyl-CoA dehydrogenase deficiency are also at risk for complications such as seizures, life-threatening heart and breathing problems, coma, and sudden death. This condition may explain some cases of sudden infant death syndrome (SIDS), which is defined as unexplained death in babies younger than 1 year.Problems related to 3-hydroxyacyl-CoA dehydrogenase deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

MalaCards based summary : 3-Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as deficiency of 3-hydroxyacyl-coa dehydrogenase, is related to acyl-coa dehydrogenase deficiency and abdominal obesity-metabolic syndrome 1, 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 Midazolam and Propofol have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and endothelial, and related phenotypes are feeding difficulties in infancy and growth delay

KEGG : 36 3-Hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency is an autosomal recessive metabolic disorder, resulting from mutations in the HADH gene. HADH deficiency is one of the mitochondrial fatty acid oxidation disorder that has been the most recently described only in a few patients. The clinical phenotype of most patients that have been described is recurrent hypoglycemia associated with hyperinsulinism.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 3-hydroxyacyl-coenzyme A dehydrogenase deficiency is a rare condition that prevents the body from... more...

More information 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 1538)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase deficiency 30.9 ACADVL ACADM
2 abdominal obesity-metabolic syndrome 1 30.6 HADHA GCK ACADM
3 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 30.6 VIM MTTP KRT8 HSD17B10 HADHA HADH
4 mitochondrial trifunctional protein deficiency 30.5 HADHA HADH GAREM2 ACADVL ACADM
5 myoglobinuria 30.5 HADH ACADVL
6 hyperinsulinism 30.3 HSD17B10 HADH GLUD1 GCK
7 fatty liver disease 30.3 MTTP HADHA ACADM
8 hypoglycemia 30.2 HADHA HADH GLUD1 GCK ACADVL ACADM
9 multiple carboxylase deficiency 30.2 HADHA HADH ACADM
10 hyperinsulinemic hypoglycemia 30.2 HADH GLUD1 GCK
11 biotinidase deficiency 30.2 HADHA HADH
12 sudden infant death syndrome 30.1 HADHA GCK ACADM
13 carnitine-acylcarnitine translocase deficiency 30.1 HADHA ACADVL
14 acyl-coa dehydrogenase, medium-chain, deficiency of 30.1 HADHA HADH ACADVL ACADM
15 acyl-coa dehydrogenase, very long-chain, deficiency of 30.1 HADHA HADH ACADVL ACADM
16 maple syrup urine disease 30.0 HADHA HADH GLUD1 ACADM
17 abetalipoproteinemia 30.0 MTTP HADHA
18 acyl-coa dehydrogenase, short-chain, deficiency of 29.8 HADHA HADH ACADVL ACADM
19 alpha-methylacetoacetic aciduria 29.7 HSD17B10 HADH
20 multiple acyl-coa dehydrogenase deficiency 29.7 HADHA HADH ACADVL ACADM
21 carnitine palmitoyltransferase i deficiency 29.7 HADHA ACADVL ACADM
22 isovaleric acidemia 29.6 HADHA ACADVL
23 citrullinemia, classic 29.5 HADHA ACADVL
24 3-methylcrotonyl-coa carboxylase deficiency 29.5 HADHA HADH ACADVL
25 hyperinsulinemic hypoglycemia, familial, 7 29.3 HADH GLUD1 GCK
26 hyperinsulinemic hypoglycemia, familial, 6 29.2 HADH GLUD1 GCK
27 carnitine deficiency, systemic primary 29.2 HADHA HADH ACADVL ACADM
28 carnitine palmitoyltransferase ii deficiency, infantile 29.2 HADHA HADH ACADVL ACADM
29 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.6
30 hyperinsulinemic hypoglycemia, familial, 4 11.5
31 metabolic diseases with epilepsy 11.1
32 inherited metabolic disorder 11.0
33 olivopontocerebellar atrophy 11.0
34 gaucher's disease 10.9
35 mucolipidoses 10.9
36 mucopolysaccharidoses 10.9
37 sea-blue histiocyte disease 10.9
38 parkinsonism 10.9
39 spasticity 10.9
40 bile acid synthesis defect, congenital, 1 10.8
41 craniosynostosis 10.8
42 generalized gangliosidoses 10.8
43 6-phosphogluconate dehydrogenase deficiency 10.8
44 neuropathy 10.6
45 peripheral nervous system disease 10.6
46 body mass index quantitative trait locus 11 10.6
47 lipid metabolism disorder 10.6
48 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.6
49 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.6
50 hypotonia 10.6

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

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

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 feeding difficulties in infancy 31 HP:0008872
2 growth delay 31 HP:0001510
3 hepatic steatosis 31 HP:0001397
4 hypertrophic cardiomyopathy 31 HP:0001639
5 dilated cardiomyopathy 31 HP:0001644
6 generalized hypotonia 31 HP:0001290
7 hypoketotic hypoglycemia 31 HP:0001985
8 hypoglycemic seizures 31 HP:0002173
9 hepatic necrosis 31 HP:0002605
10 myoglobinuria 31 HP:0002913
11 dicarboxylic aciduria 31 HP:0003215
12 hypoglycemic encephalopathy 31 HP:0006929
13 fulminant hepatic failure 31 HP:0004448
14 decreased 3-hydroxyacyl-coa dehydrogenase level 31 HP:0100950

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 cardiovascular system MP:0005385 9.7 ACADM ACADVL GCK HADHA KRT8 MTTP
2 homeostasis/metabolism MP:0005376 9.61 ACADM ACADVL GCK GLUD1 HADH HADHA
3 liver/biliary system MP:0005370 9.1 ACADM ACADVL GCK HADHA KRT8 MTTP

Drugs & Therapeutics for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

(show top 50) (show all 400)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Insulin glargine Approved Phase 4 160337-95-1
4
Bilberry Approved, Experimental Phase 4
5
Oseltamivir Approved Phase 4 204255-11-8, 196618-13-0 65028
6
Potassium citrate Approved, Investigational, Vet_approved Phase 4 866-84-2
7
Sodium citrate Approved, Investigational Phase 4 68-04-2
8
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
9
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
10
Lopinavir Approved Phase 4 192725-17-0 92727
11
Zidovudine Approved Phase 4 30516-87-1 35370
12
Pamidronate Approved Phase 4 40391-99-9 4674
13
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
14
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
15
Ezetimibe Approved Phase 4 163222-33-1 150311
16
Methadone Approved Phase 4 76-99-3 4095
17
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
18
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
19
Cobicistat Approved Phase 4 1004316-88-4
20
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 644073 40400
21
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
22
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
23
Diazoxide Approved Phase 4 364-98-7 3019
24
Calcium carbonate Approved, Investigational Phase 4 471-34-1
25
Iron Approved Phase 4 7439-89-6 23925 29936
26
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
27
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
28
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
29
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
30 Psychotropic Drugs Phase 4
31 Hypnotics and Sedatives Phase 4
32 Anesthetics, General Phase 4
33 GABA Modulators Phase 4
34 Anesthetics, Intravenous Phase 4
35 Anti-Anxiety Agents Phase 4
36 Chelating Agents Phase 4
37 Nutrients Phase 4
38 Micronutrients Phase 4
39 Trace Elements Phase 4
40 Vitamins Phase 4
41 Calciferol Phase 4
42 Olive Phase 4
43 Vitamin D2 Phase 4
44 Ergocalciferols Phase 4
45 Citrate Phase 4
46 Diphosphonates Phase 4
47 Lamivudine, zidovudine drug combination Phase 4
48 Anticoagulants Phase 4
49 Anthocyanidin Phase 4
50 Clofibric Acid Phase 4 882-09-7

Interventional clinical trials:

(show top 50) (show all 647)
# Name Status NCT ID Phase Drugs
1 Metformin for Treatment of Psoriasis Combined With Disorders of Glucose and Lipid Metabolism: A Double-Blind, Randomized, Placebo-Controlled Study Unknown status NCT03629639 Phase 4 Metformin
2 Comparison of Oral 30 % Dextrose and iv Midazolam Sedation During MRI in Neonates Unknown status NCT02645279 Phase 4 IV midazolam
3 Ezetimibe Reverse Cholesterol Transport (RCT) Pilot Study Completed NCT00701727 Phase 4 ezetimibe;Placebo
4 Characterisation of the Human Carboxylesterase 1 (CES1) Mutation(s) Which May be Responsible for Markedly Reduced Conversion of Oseltamivir Phosphate to Oseltamivir Carboxylate Completed NCT01443806 Phase 4 Oseltamivir
5 Moderated-fat Diet Complemented With Green Tea Reduces oxLDL and Fat Mass in Obese Women: A Randomized, Controlled Clinical Trial Completed NCT01628705 Phase 4
6 A Randomized Placebo Controlled Double Blind Investigation of the Effects of Potassium Citrate on Bone Metabolism in Postmenopausal Osteopenia Completed NCT00357331 Phase 4 potassium citrate
7 Effects of Insulin Sensitizers in Subjects With Impaired Glucose Tolerance Completed NCT00108615 Phase 4 Metformin;Pioglitazone;Metformin;Pioglitazone
8 One-Year Glargine-Treatment Can Ameliorate Clinical Features in Cystic Fibrosis Children and Adolescents With Glucose Derangements Completed NCT00483769 Phase 4 Glargine
9 Effect of Vitamin D3 Supplementation on Arterial and Bone Remodeling in Chronic Kidney Disease Patients Completed NCT02999204 Phase 4 Vitamin D3
10 A Multicentre, Double-Blind, Randomized Placebo-Controlled Study of 70mg Alendronate Once Weekly for the Prevention and Treatment of Osteoporosis in Canadian Adult Cystic Fibrosis Patients Completed NCT00157690 Phase 4 Alendronate;Placebo
11 A 3 Arm, Prospective Study to Compare the Effect of 6 Weeks Exposure to the Combination of Lopinavir (LPVr)/Combivir® (AZT/3TC) Versus Lopinavir Alone or Combivir® Alone in HIV-negative Healthy Subjects on the Development of Abnormalities of Lipid and Glucose Metabolism Completed NCT00192621 Phase 4 Combivir (zidovudine [AZT] / lamivudine [3TC]);Kaletra (lopinavir [LPVr])
12 How Does Magnesium Status Influence Calcium Homeostasis? Completed NCT01593501 Phase 4
13 Prospective, Randomized, Double-Blind, Placebo-Controlled Trial to Evaluate the Efficacy of Disodium Pamidronate in the Treatment of Bone Loss Associated With Liver Transplant Completed NCT00657852 Phase 4 Disodium pamidronate;Placebo
14 A 12-week, Multicenter, Double-blind, Double-dummy, Randomized, Active-controlled, Parallel-group Study to Assess the Efficacy and Safety of Fluvastatin Sodium Extended Release Tablets 80 mg Once Daily Compared to Fluvastatin Sodium Immediate Release Capsules 40 mg Twice Daily (BID) in Chinese Patients With Primary Hypercholesterolemia or Mixed Dyslipidemia at Moderate or High Cardiovascular Risk Who Did Not Achieve Their Lipid Goals When Treated With Fluvastatin Sodium Immediate Release Capsules 40 mg QD Completed NCT01551173 Phase 4 Fluvastatin sodium
15 Estimation of Carbohydrate Metabolism Disorder Frequency in Hypertriglyceridemia Induced by Bexarotene Treatment of Cutaneous T Cell Lymphoma - Pilote Study Completed NCT01569724 Phase 4
16 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
17 A Long-Term, Open-Label, Prospective Phase IV Study to Assess the Safety and Efficacy of Nephoxil® in Subjects With End Stage Renal Disease (ESRD) on Dialysis Completed NCT03256838 Phase 4 Ferric Citrate
18 Cholecalciferol Supplementation for Anemia and Mineral and Bone Disorder in Hemodialysis Patients (CHAMBER): A Multicenter, Double-blind, Randomized, Placebo-controlled Trial Completed NCT02214563 Phase 4
19 Effect of Anthocyanins on Metabolic Profiles in Subjects With Pre-diabetes: A Randomized, Double-blind, Placebo-controlled Study Completed NCT02689765 Phase 4
20 Open Label Study Evaluating The Use Of Combination Therapy Of Ezetimibe And Statins In Patients With Dyslipidemia In Colombia Completed NCT00651963 Phase 4 ezetimibe
21 Evaluation of Elvitegravir/Cobicistat/Emtricitabine/Tenofovir Alafenamide (E/C/F/TAF) Switch Followed by Sofosbuvir/Velpatasvir (SOF/VEL) Antiviral HCV Therapy Followed by Bictegravir/Emtricitabine/Tenofovir Alafenamide (B/F/TAF) Simplification in HIV-HCV Co-Infected Subjects on Opioid Substitution Therapy - A Pilot Feasibility Study Recruiting NCT03549312 Phase 4 Genvoya;Epclusa;Biktarvy
22 A Multi-center, Randomized, Open-label, Active-controlled, Phase IV Clinical Trial to Evaluate the Efficacy and Safety of EzetimiBe/Rosuvastatin Diabetic Dislipidemia With Hypertriglyceridaemia Recruiting NCT04700436 Phase 4 Rosuzet tablet 10/5 mg (Ezetimibe 10 mg/Rosuvastatin 5 mg)
23 Exploring the Association Between Phthalates Exposure, Measured Through Their Urinary Metabolites, and Renal Function Impairment in Individuals With TYpe 2 Diabetes - SGLT2 Subprotocol Active, not recruiting NCT04242758 Phase 4 Dapagliflozin 10 MG;Hydrochlorothiazide 12.5mg
24 Central Mechanisms That Regulate Glucose Metabolism in Humans Active, not recruiting NCT01028846 Phase 4 Diazoxide;Placebo
25 Lanthanum Carbonate Versus Calcium Carbonate for Vascular Abnormalities in Patients With Chronic Kidney Disease and Hyperphosphatemia Enrolling by invitation NCT02237534 Phase 4 Lanthanum carbonate;Calcium Carbonate
26 A Multi-center, Open-label, Single-arm, Phase IV Clinical Trial to Evaluate the Preference Regarding Convenience of Medication, Efficacy and Safety After Switching to SUGAMET®XR Tablet 5/1000mg in Patients With Type 2 Diabetes and Renal Diseases Not yet recruiting NCT04653779 Phase 4 Evogliptin 5mg/Metformin 1000mg
27 A Multicenter Randomized Exploratory Clinical Trial to Evaluate the Effect of Bone Metabolism and the Efficacy of Evogliptin and Dapagliflozin for Blood Sugar in the Menopause Female Patients With Osteopenia and Type 2 Diabetes Not yet recruiting NCT04706637 Phase 4 Evogliptin;Dapagliflozin
28 A Double Blind Randomised Placebo-controlled Trial to Assess the Effect of a Single Administration of Ferric Carboxymaltose of 1000 mg Iron on Glucose Homeostasis, in Iron-deficient Non-anaemic Women of Childbearing Age. Terminated NCT03191201 Phase 4 Ferric Carboxymaltose;0.9% sodium chloride solution
29 Fixed Combination for Lipid and Blood Pressure Control. Randomized Cross-over Study Withdrawn NCT03047538 Phase 4 Atorvastatin, Amlodipine, Perindopril
30 Effect of Pioglitazone on Intima Media Thickness, Endothelial Function, and Heart Rate Variability in Patients With Impaired Glucose Tolerance Withdrawn NCT00306826 Phase 4 pioglitazone;simvastatin;pioglitazone + simvastatin
31 A Single-arm Evaluation of the Effect of Elbasvir/Grazoprevir on Cardiometabolic Parameters in Patients With Hepatitis C Infection and Underlying Metabolic Disease Withdrawn NCT03585101 Phase 4 Elbasvir/grazoprevir
32 Trial of Laflavon in Patients With Metabolic Syndrome to Evaluate Its Effectiveness in Lowering Triglycerides and Raising High-Density Lipoprotein (HDL) Unknown status NCT01286909 Phase 3
33 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone, and Incretin Based Therapy Unknown status NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
34 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Cardiovascular Outcomes Following Treatment With Alogliptin in Addition to Standard of Care in Subjects With Type 2 Diabetes and Acute Coronary Syndrome Completed NCT00968708 Phase 3 Alogliptin;Placebo
35 A Multicenter Study to Evaluate the Efficacy and Safety of Tin Mesoporphyrin (Stannsoporfin) to Reduce the Need for Phototherapy in Term and Near Term Infants. Completed NCT02685137 Phase 3 stannsoporfin
36 Phase 3 Study of Beneficiary Effects of Dietary Approaches to Stop Hypertension (DASH) on the Metabolic Aeffects of Corticosteroids Medications Use Completed NCT01762267 Phase 3
37 A Randomized, Double-blind Study Comparing the Efficacy and Safety of a Fixed Combination of Fenofibrate and Metformin vs Metformin Alone in Patients With Type 2 Diabetes Mellitus and Dyslipidemia Not Appropriately Controlled With a Statin. Completed NCT00362323 Phase 3 fenofibrate (F) + metformin (M) hydrochloride fixed combination;Metformin
38 A Randomized, Double-Blind Trial Assessing the Efficacy and Safety of Low and Standard Doses of Fenofibrate in Combination With Metformin on the Lipid Profile in Patients With Type 2 Diabetes and Dyslipidemia. Completed NCT00349128 Phase 2, Phase 3 fenofibrate and metformin combination (drug)
39 An Open Label, Parallel-Arm, Multicenter Trial Assessing the Acceptability of 4 Dosages of a New Fixed Dose Combination of Fenofibrate and Metformin in Patients With Type 2 Diabetes and Dyslipidemia Completed NCT00348725 Phase 3 fenofibrate and metformin fixed combination (drug)
40 Effects of Acarbose Long-Term Therapy on Prevention of Cardiovascular Events in Abnormal Glucose Tolerance With Coronary Artery Disease (ALERT Study) Completed NCT00221156 Phase 3 Acarbose
41 Improving Low Bone Mass With Vibration Therapy for Girls With Adolescent Idiopathic Scoliosis (AIS) - A Randomized Controlled Trial Completed NCT01108211 Phase 3
42 The DREAM (Diabetes Reduction Assessment With Ramipril and Rosiglitazone Medication) Trial Completed NCT00095654 Phase 3 Ramipril;Rosiglitazone
43 A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Safety and Efficacy of Mipomersen as Add-on Therapy in Homozygous Familial Hypercholesterolemia Subjects Completed NCT00607373 Phase 3 mipomersen;Placebo
44 Evaluation of Omega 3 Supplementation on Neurological Recovery , Lipid Profile and Antioxidant Enzymes and Hormones After Chronic Spinal Cord Injury. Completed NCT01311375 Phase 2, Phase 3
45 An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia Completed NCT00694109 Phase 3 Mipomersen Sodium
46 52 Week Study to Evaluate the Effects of LOSARTAN 50 mg, 100 mg, 100/12.5 mg HCTZ, 100/25 mg HCTZ on Metabolic Parameters, Blood Pressure and Safety in Hypertensive Patients With Metabolic Syndrome Completed NCT00546052 Phase 3 losartan potassium (+) hydrochlorothiazide
47 Randomized Study Comparing Soybean Oil-Based (Intralipid) With an Olive Oil-Based (ClinOleic) Lipid Emulsion: Effects on Endothelial Function, Inflammatory Markers, Oxidative Stress, Immune Function, Autonomic Nervous System, Insulin Sensitivity and Carbohydrate Metabolism Completed NCT02185729 Phase 2, Phase 3 Intralipid;ClinOleic;Dextrose
48 Efficacy and Safety of Dipeptidyl Peptidase-4 Inhibitors in Diabetic Patients With Established COVID-19 Recruiting NCT04371978 Phase 3 Linagliptin 5 MG
49 Efficacy and Safety of LY3298176 Once Weekly Versus Insulin Glargine in Patients With Type 2 Diabetes and Increased Cardiovascular Risk (SURPASS-4) Active, not recruiting NCT03730662 Phase 3 Tirzepatide;Insulin Glargine
50 A Randomized, Double-Blind, Parallel Arm Study of the Efficacy and Safety of Two Doses of Dulaglutide in Combination With a Single Oral Antihyperglycemic Medication or as Monotherapy in Japanese Patients With Type 2 Diabetes Mellitus (AWARD-JPN: Assessment of Weekly Administration of LY2189265 in Diabetes - JAPAN) Not yet recruiting NCT04809220 Phase 3 Dulaglutide;Biguanide (BG);Sulfonylurea (SU);Alpha-Glucosidase Inhibitors (α-GI);Thiazolidinedione (TZD);Glinides (GLN);Sodium-glucose cotransporter type 2 inhibitors (SGLT2i)

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

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Magnesium Hydroxide
MILK OF MAGNESIA

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 29 HADH

Anatomical Context for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

40
Bone, Liver, Endothelial, Bone Marrow, Skeletal Muscle, Spinal Cord, Ovary

Publications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Articles related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 138)
# Title Authors PMID Year
1
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. 61 57
1835339 1991
2
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. 57
16176262 2005
3
Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study. 57
10931422 2000
4
Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation. 57
10347277 1999
5
Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation. 57
8825408 1996
6
Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). 61
33107778 2021
7
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein. 61
33638202 2021
8
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period. 61
33392894 2021
9
Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. 61
33204595 2020
10
Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature. 61
32943256 2020
11
Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study. 61
32463482 2020
12
Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil. 61
32706845 2020
13
Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults. 61
32253025 2020
14
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites. 61
31760122 2020
15
Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association. 61
30747351 2019
16
CHOROIDAL NEOVASCULARIZATION ASSOCIATED WITH LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY. 61
31479012 2019
17
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. 61
31241292 2019
18
Serial fatty acid profiles in a preterm infant with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 61
31025818 2019
19
Erratum to "Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients" [Eur J Paediatr Neuro 20 (2016) 38-44]. 61
30642532 2019
20
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates. 61
30136145 2018
21
The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study. 61
29425111 2018
22
[Acute liver failure related to inherited metabolic diseases in young children]. 61
28411097 2018
23
Follow-up and multimodal imaging in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 61
30364125 2018
24
Retinal Dystrophy in Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency. 61
31047310 2018
25
Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases. 61
28515471 2017
26
Energy exchangers with LCT as a precision method for diet control in LCHADD. 61
28791828 2017
27
Management of an LCHADD Patient During Pregnancy and High Intensity Exercise. 61
27334895 2017
28
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. 61
29095929 2017
29
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function. 61
27461099 2016
30
Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function. 61
27639177 2016
31
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases. 61
27491397 2016
32
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. 61
26896063 2016
33
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 61
26676313 2016
34
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy. 61
27078015 2016
35
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients. 61
26653362 2016
36
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency. 61
26545880 2016
37
Round Table Discussion. 61
27931031 2016
38
Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias. 61
26368264 2015
39
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. 61
26316438 2015
40
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. 61
26024122 2015
41
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast. 61
25141826 2015
42
Transient central diabetes insipidus induced by ketamine infusion. 61
25225198 2014
43
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases. 61
25022222 2014
44
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. 61
23430524 2013
45
[Long chain 3-hydroxyacyl-coA dehydrogenase deficiency, association with HELLP and magnetic resonance spectroscopy findings]. 61
22859334 2012
46
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. 61
22579592 2012
47
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. 61
23430857 2012
48
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations. 61
23430856 2012
49
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. 61
21347589 2011
50
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. 61
21252247 2011

Variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

6 (show top 50) (show all 73)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HADH NM_005327.5(HADH):c.118G>A (p.Ala40Thr) SNV Pathogenic 8018 rs137853101 GRCh37: 4:108911206-108911206
GRCh38: 4:107990050-107990050
2 HADH NM_005327.5(HADH):c.171C>A (p.Asp57Glu) SNV Pathogenic 8019 rs137853102 GRCh37: 4:108930953-108930953
GRCh38: 4:108009797-108009797
3 HADH NM_005327.7(HADH):c.261+1G>A SNV Pathogenic 802082 rs1398546361 GRCh37: 4:108931044-108931044
GRCh38: 4:108009888-108009888
4 HADH NM_005327.7(HADH):c.587del (p.Ser196fs) Deletion Pathogenic 802083 rs745727504 GRCh37: 4:108944670-108944670
GRCh38: 4:108023514-108023514
5 HADH NM_005327.7(HADH):c.710-822C>A SNV Pathogenic 1028360 GRCh37: 4:108953510-108953510
GRCh38: 4:108032354-108032354
6 HADH NM_005327.5(HADH):c.643C>A (p.Pro215Thr) SNV Conflicting interpretations of pathogenicity 549514 rs140413151 GRCh37: 4:108948850-108948850
GRCh38: 4:108027694-108027694
7 HADH NM_005327.5(HADH):c.676T>C (p.Tyr226His) SNV Conflicting interpretations of pathogenicity 212734 rs146036912 GRCh37: 4:108948883-108948883
GRCh38: 4:108027727-108027727
8 HADH NM_005327.5(HADH):c.456G>T (p.Gln152His) SNV Conflicting interpretations of pathogenicity 211127 rs1051519 GRCh37: 4:108940732-108940732
GRCh38: 4:108019576-108019576
9 HADH NM_005327.7(HADH):c.*279C>A SNV Uncertain significance 899454 GRCh37: 4:108955792-108955792
GRCh38: 4:108034636-108034636
10 HADH NM_005327.7(HADH):c.*335C>A SNV Uncertain significance 899455 GRCh37: 4:108955848-108955848
GRCh38: 4:108034692-108034692
11 HADH NM_005327.7(HADH):c.*377G>A SNV Uncertain significance 899456 GRCh37: 4:108955890-108955890
GRCh38: 4:108034734-108034734
12 HADH NC_000004.12:g.107989877C>A SNV Uncertain significance 900414 GRCh37: 4:108911033-108911033
GRCh38: 4:107989877-107989877
13 HADH NM_005327.7(HADH):c.-34C>T SNV Uncertain significance 900482 GRCh37: 4:108911055-108911055
GRCh38: 4:107989899-107989899
14 HADH NM_005327.7(HADH):c.688G>A (p.Ala230Thr) SNV Uncertain significance 900535 GRCh37: 4:108948895-108948895
GRCh38: 4:108027739-108027739
15 HADH NM_005327.7(HADH):c.710-14C>T SNV Uncertain significance 900536 GRCh37: 4:108954318-108954318
GRCh38: 4:108033162-108033162
16 HADH NM_005327.5(HADH):c.240G>A (p.Lys80=) SNV Uncertain significance 347133 rs748623569 GRCh37: 4:108931022-108931022
GRCh38: 4:108009866-108009866
17 HADH NM_005327.5(HADH):c.*305T>A SNV Uncertain significance 347138 rs3822294 GRCh37: 4:108955818-108955818
GRCh38: 4:108034662-108034662
18 HADH NM_005327.5(HADH):c.889G>A (p.Val297Ile) SNV Uncertain significance 347135 rs376876153 GRCh37: 4:108955457-108955457
GRCh38: 4:108034301-108034301
19 HADH NM_005327.5(HADH):c.21G>A (p.Gln7=) SNV Uncertain significance 347131 rs886058980 GRCh37: 4:108911109-108911109
GRCh38: 4:107989953-107989953
20 HADH NM_001184705.2(HADH):c.-195A>G SNV Uncertain significance 347122 rs886058979 GRCh37: 4:108910894-108910894
GRCh38: 4:107989738-107989738
21 HADH NM_005327.5(HADH):c.72G>A (p.Lys24=) SNV Uncertain significance 347132 rs781319494 GRCh37: 4:108911160-108911160
GRCh38: 4:107990004-107990004
22 HADH NM_005327.5(HADH):c.*661dup Duplication Uncertain significance 347140 rs886058981 GRCh37: 4:108956168-108956169
GRCh38: 4:108035012-108035013
23 HADH NM_005327.5(HADH):c.291G>T (p.Leu97=) SNV Uncertain significance 347134 rs552317372 GRCh37: 4:108935616-108935616
GRCh38: 4:108014460-108014460
24 HADH NM_005327.5(HADH):c.266G>A (p.Gly89Asp) SNV Uncertain significance 640701 rs1292646768 GRCh37: 4:108935591-108935591
GRCh38: 4:108014435-108014435
25 HADH NM_005327.5(HADH):c.908G>T (p.Gly303Val) SNV Uncertain significance 647412 rs575378007 GRCh37: 4:108955476-108955476
GRCh38: 4:108034320-108034320
26 HADH NM_005327.5(HADH):c.100G>C (p.Gly34Arg) SNV Uncertain significance 659541 rs779135938 GRCh37: 4:108911188-108911188
GRCh38: 4:107990032-107990032
27 HADH NM_005327.7(HADH):c.494G>A (p.Arg165Gln) SNV Uncertain significance 860765 GRCh37: 4:108940770-108940770
GRCh38: 4:108019614-108019614
28 HADH NM_001184705.2(HADH):c.-51del Deletion Uncertain significance 347128 rs574132278 GRCh37: 4:108911038-108911038
GRCh38: 4:107989882-107989882
29 HADH NM_001184705.2(HADH):c.-115del Deletion Uncertain significance 347124 rs537335460 GRCh37: 4:108910974-108910974
GRCh38: 4:107989818-107989818
30 HADH NM_005327.5(HADH):c.*600C>T SNV Uncertain significance 347139 rs544321475 GRCh37: 4:108956113-108956113
GRCh38: 4:108034957-108034957
31 HADH NM_005327.5(HADH):c.-36C>T SNV Uncertain significance 347130 rs746854470 GRCh37: 4:108911053-108911053
GRCh38: 4:107989897-107989897
32 HADH NM_001184705.2(HADH):c.-195A>C SNV Uncertain significance 347121 rs886058979 GRCh37: 4:108910894-108910894
GRCh38: 4:107989738-107989738
33 HADH NM_005327.5(HADH):c.643C>A (p.Pro215Thr) SNV Uncertain significance 549514 rs140413151 GRCh37: 4:108948850-108948850
GRCh38: 4:108027694-108027694
34 HADH NM_005327.7(HADH):c.725A>G (p.Glu242Gly) SNV Uncertain significance 1003601 GRCh37: 4:108954347-108954347
GRCh38: 4:108033191-108033191
35 HADH NM_005327.7(HADH):c.280G>C (p.Glu94Gln) SNV Uncertain significance 1005599 GRCh37: 4:108935605-108935605
GRCh38: 4:108014449-108014449
36 HADH NM_005327.7(HADH):c.740C>T (p.Ala247Val) SNV Uncertain significance 1007414 GRCh37: 4:108954362-108954362
GRCh38: 4:108033206-108033206
37 HADH NM_005327.7(HADH):c.761A>G (p.Tyr254Cys) SNV Uncertain significance 1009098 GRCh37: 4:108954383-108954383
GRCh38: 4:108033227-108033227
38 HADH NM_005327.7(HADH):c.380A>G (p.Lys127Arg) SNV Uncertain significance 962564 GRCh37: 4:108935705-108935705
GRCh38: 4:108014549-108014549
39 HADH NC_000004.11:g.(?_108911069)_(108955533_?)dup Duplication Uncertain significance 1020269 GRCh37: 4:108911069-108955533
GRCh38:
40 HADH NM_005327.7(HADH):c.820G>A (p.Val274Met) SNV Uncertain significance 1024954 GRCh37: 4:108954442-108954442
GRCh38: 4:108033286-108033286
41 HADH NM_005327.5(HADH):c.349G>C (p.Val117Leu) SNV Uncertain significance 652881 rs146732064 GRCh37: 4:108935674-108935674
GRCh38: 4:108014518-108014518
42 HADH NM_005327.7(HADH):c.479C>T (p.Thr160Ile) SNV Uncertain significance 864194 GRCh37: 4:108940755-108940755
GRCh38: 4:108019599-108019599
43 HADH NM_005327.7(HADH):c.159A>G (p.Val53=) SNV Uncertain significance 902149 GRCh37: 4:108930941-108930941
GRCh38: 4:108009785-108009785
44 HADH NM_005327.7(HADH):c.809C>T (p.Thr270Met) SNV Uncertain significance 902197 GRCh37: 4:108954431-108954431
GRCh38: 4:108033275-108033275
45 HADH NM_005327.7(HADH):c.823G>A (p.Asp275Asn) SNV Uncertain significance 902198 GRCh37: 4:108954445-108954445
GRCh38: 4:108033289-108033289
46 HADH NM_005327.7(HADH):c.825T>G (p.Asp275Glu) SNV Uncertain significance 902199 GRCh37: 4:108954447-108954447
GRCh38: 4:108033291-108033291
47 HADH NC_000004.12:g.107989847G>T SNV Uncertain significance 902970 GRCh37: 4:108911003-108911003
GRCh38: 4:107989847-107989847
48 HADH NM_005327.7(HADH):c.264C>T (p.Ala88=) SNV Uncertain significance 903028 GRCh37: 4:108935589-108935589
GRCh38: 4:108014433-108014433
49 HADH NM_005327.7(HADH):c.*142G>A SNV Uncertain significance 903080 GRCh37: 4:108955655-108955655
GRCh38: 4:108034499-108034499
50 HADH NC_000004.12:g.107989730A>G SNV Uncertain significance 902091 GRCh37: 4:108910886-108910886
GRCh38: 4:107989730-107989730

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

72
# Symbol AA change Variation ID SNP ID
1 HADH p.Ala40Thr VAR_024079 rs137853101
2 HADH p.Asp57Glu VAR_024080 rs137853102

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 MTTP HSD17B10 HADHA HADH GLUD1 GCK
2
Show member pathways
12.58 HADHA HADH ACADVL ACADM
3
Show member pathways
12.12 HADHA HADH ACADVL ACADM
4 11.86 HADHA GCK ACADM
5
Show member pathways
11.69 HSD17B10 HADHA HADH ACADM
6
Show member pathways
11.57 HSD17B10 HADHA HADH
7 11.54 HADH GLUD1 ACADM
8
Show member pathways
11.38 HADHA HADH ACADVL ACADM
9
Show member pathways
11.26 HSD17B10 HADH
10
Show member pathways
11.1 HADHA HADH
11
Show member pathways
10.98 HADHA HADH ACADVL ACADM
12
Show member pathways
10.76 HSD17B10 HADHA
13 10.57 HADH GCK ACADVL ACADM
14
Show member pathways
10.33 HADHA HADH ACADM

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 mitochondrion GO:0005739 9.5 HSD17B10 HADHA HADH GLUD1 GCK ACADVL
2 mitochondrial nucleoid GO:0042645 9.33 HSD17B10 HADHA ACADVL
3 intermediate filament cytoskeleton GO:0045111 9.26 VIM KRT8
4 mitochondrial matrix GO:0005759 9.02 HSD17B10 HADH GLUD1 ACADVL ACADM

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.73 HSD17B10 HADHA HADH GLUD1 ACADVL ACADM
2 lipid metabolic process GO:0006629 9.63 MTTP HSD17B10 HADHA HADH ACADVL ACADM
3 positive regulation of insulin secretion GO:0032024 9.4 GLUD1 GCK
4 response to cold GO:0009409 9.37 ACADVL ACADM
5 fatty acid metabolic process GO:0006631 9.35 HSD17B10 HADHA HADH ACADVL ACADM
6 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.32 ACADVL ACADM
7 fatty acid beta-oxidation GO:0006635 9.02 HSD17B10 HADHA HADH ACADVL ACADM

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.43 HSD17B10 HADHA HADH GLUD1 ACADVL ACADM
2 scaffold protein binding GO:0097110 9.4 VIM KRT8
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.37 ACADVL ACADM
4 fatty-acyl-CoA binding GO:0000062 9.32 HADHA ACADVL
5 NAD+ binding GO:0070403 9.26 HADH GLUD1
6 acyl-CoA dehydrogenase activity GO:0003995 9.16 ACADVL ACADM
7 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.8 HSD17B10 HADHA HADH

Sources for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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