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 56 74 25 58 36 13 39 71
Deficiency of 3-Hydroxyacyl-Coa Dehydrogenase 25 29 6
Hadh Deficiency 56 25 73
Metabolic Diseases 43 71
Schad Deficiency 25 73
Had Deficiency 25 73
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 73
Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 73
Schad Deficiency, Formerly 56
M/schad Deficiency 25
Hadhsc Deficiency 25

Characteristics:

OMIM:

56
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 56 231530
KEGG 36 H01364
MeSH 43 D008659
ICD10 via Orphanet 33 E71.3
UMLS via Orphanet 72 C1291230
Orphanet 58 ORPHA309127
MedGen 41 C1291230
UMLS 71 C0025517 C1291230

Summaries for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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). 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 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency and multiple carboxylase deficiency, 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 Glucagon and Midazolam have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and heart, and related phenotypes are feeding difficulties in infancy and hypertrophic cardiomyopathy

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 : 73 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 : 74 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 1661)
# Related Disease Score Top Affiliating Genes
1 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 31.2 VIM MTTP KRT8 HSD17B10 HADHA HADH
2 multiple carboxylase deficiency 30.8 HADHA ACADM
3 carnitine-acylcarnitine translocase deficiency 30.6 HADHA ACADVL
4 fatty liver disease, nonalcoholic 1 30.6 MTTP HADHA
5 acyl-coa dehydrogenase deficiency 30.4 HADHA ACADVL ACADM
6 myoglobinuria 30.3 HADH ACADVL
7 mitochondrial trifunctional protein deficiency 30.3 HADHA HADH GAREM2 ACADVL ACADM
8 citrullinemia, classic 30.2 HADHA ACADVL ACADM
9 maple syrup urine disease 30.2 HADHA HADH GLUD1 ACADM
10 propionic acidemia 30.2 HADHA ACADVL
11 hyperinsulinism 30.1 HSD17B10 HADH GLUD1 GCK
12 multiple acyl-coa dehydrogenase deficiency 30.1 HADHA HADH ACADVL ACADM
13 hyperinsulinemic hypoglycemia 30.0 HADH GLUD1 GCK
14 acyl-coa dehydrogenase, short-chain, deficiency of 30.0 HADHA HADH ACADVL ACADM
15 acyl-coa dehydrogenase, very long-chain, deficiency of 30.0 HADHA HADH ACADVL ACADM
16 acyl-coa dehydrogenase, medium-chain, deficiency of 30.0 HADHA HADH ACADVL ACADM
17 abdominal obesity-metabolic syndrome 1 30.0 MTTP GCK ACADM
18 alpha-methylacetoacetic aciduria 29.9 HSD17B10 HADH
19 isovaleric acidemia 29.9 HADHA ACADVL
20 hypoglycemia 29.8 HADHA HADH GLUD1 GCK ACADVL ACADM
21 carnitine palmitoyltransferase i deficiency 29.8 HADHA ACADVL ACADM
22 reye syndrome 29.8 HADHA ACADM
23 hyperinsulinemic hypoglycemia, familial, 7 29.3 HADH GLUD1 GCK
24 hyperinsulinemic hypoglycemia, familial, 6 29.3 HADH GLUD1 GCK
25 3-methylcrotonyl-coa carboxylase deficiency 29.2 HADHA HADH ACADVL ACADM
26 carnitine deficiency, systemic primary 29.2 HADHA HADH ACADVL ACADM
27 carnitine palmitoyltransferase ii deficiency, infantile 29.2 HADHA HADH ACADVL ACADM
28 mineral metabolism disease 12.4
29 iron metabolism disease 12.3
30 other metabolic disease 12.3
31 mitochondrial metabolism disease 12.2
32 plasma protein metabolism disease 12.2
33 histidine metabolism disease 12.2
34 metabolic disease due to other fatty acid oxidation disorder 12.2
35 acquired metabolic disease 12.2
36 glucose metabolism disease 12.2
37 3-alpha hydroxyacyl-coa dehydrogenase deficiency 12.1
38 phosphorus metabolism disease 12.1
39 secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease 12.1
40 secondary interstitial lung disease specific to childhood associated with a metabolic disease 12.1
41 metabolic diseases with epilepsy 12.1
42 rare hereditary metabolic disease with peripheral neuropathy 12.1
43 amino acid or protein metabolism disease with epilepsy 12.1
44 other metabolic disease with epilepsy 12.1
45 other metabolic disease with skin involvement 12.1
46 metabolic disease involving other neurotransmitter deficiency 12.1
47 metabolic disease with skin involvement 12.1
48 nephropathy secondary to a storage or other metabolic disease 12.1
49 metabolic disease with cataract 12.1
50 metabolic disease with dementia 12.1

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 hypertrophic cardiomyopathy 31 HP:0001639
3 growth delay 31 HP:0001510
4 hepatic steatosis 31 HP:0001397
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:

56
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

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


emaciation

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

45
# 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 512)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glucagon Approved Phase 4 16941-32-5
2
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
3
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Glipizide Approved, Investigational Phase 4 29094-61-9 3478
6
Insulin glargine Approved Phase 4 160337-95-1
7
Sodium citrate Approved, Investigational Phase 4 68-04-2
8
Phylloquinone Approved, Investigational Phase 4 84-80-0
9
Insulin aspart Approved Phase 4 116094-23-6 16132418
10
Lopinavir Approved Phase 4 192725-17-0 92727
11
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
12
Zidovudine Approved Phase 4 30516-87-1 35370
13
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
14
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
15
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
16
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
17
Sertraline Approved Phase 4 79617-96-2 68617
18
Bisacodyl Approved Phase 4 603-50-9
19
Prucalopride Approved Phase 4 179474-81-8
20
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
21
Potassium citrate Approved, Investigational, Vet_approved Phase 4 866-84-2
22 fluindione Approved, Investigational Phase 4 957-56-2
23
Pamidronate Approved Phase 4 40391-99-9 4674
24
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
25
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
26
Ondansetron Approved Phase 4 99614-02-5 4595
27
Oseltamivir Approved Phase 4 204255-11-8, 196618-13-0 65028
28
Warfarin Approved Phase 4 81-81-2 6691 54678486
29
Dalteparin Approved Phase 4 9005-49-6
30
Phenindione Approved, Investigational Phase 4 83-12-5 4760
31
Rivaroxaban Approved Phase 4 366789-02-8
32
Acetaminophen Approved Phase 4 103-90-2 1983
33
Cinacalcet Approved Phase 4 226256-56-0 156419
34
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
35
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
36
Methadone Approved Phase 4 76-99-3 4095
37
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
38
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
39
Cobicistat Approved Phase 4 1004316-88-4
40
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
41
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
42
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
43
Liraglutide Approved Phase 4 204656-20-2 44147092
44
Calcium carbonate Approved, Investigational Phase 4 471-34-1
45
Metformin Approved Phase 4 657-24-9 14219 4091
46
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
47
Glimepiride Approved Phase 4 93479-97-1 3476
48
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
49
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
50
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534

Interventional clinical trials:

(show top 50) (show all 944)
# Name Status NCT ID Phase Drugs
1 Comparison of Oral 30 % Dextrose and iv Midazolam Sedation During MRI in Neonates Unknown status NCT02645279 Phase 4 IV midazolam
2 Effect of Multi-vitamins With Minerals on Uric Acid Metabolism in Subjects With Hyperuricemia: A Randomized, Double-blinded, Placebo-controlled Trail Unknown status NCT03218709 Phase 4
3 An Open-label, Randomized , Phase 4 Study to Compare the Different Efficacies of α-glucosidase Inhibitor and Sulfonylurea on Improvement of Intestinal Microbiome and Serum Incretins in Patients With Type 2 Diabetes Unknown status NCT01758471 Phase 4 Glipizide;Acarbose
4 Absorption and Utilization of a Mixed Meal in Type 1 Diabetes: Creation of a Biological and In Silico Biobank for the Optimization of Artificial Pancreas Systems. A Pilot Study. Unknown status NCT01800734 Phase 4
5 A Multicenter Study to Evaluate the Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
6 Open Label Study Evaluating The Use Of Combination Therapy Of Ezetimibe And Statins In Patients With Dyslipidemia In Colombia Completed NCT00651963 Phase 4 ezetimibe
7 A Comparison of Premixed and Basal-Bolus Insulin Intensification Therapies in Patients With Type 2 Diabetes Mellitus With Inadequate Glycaemic Control on Twice-daily Premixed Insulin Completed NCT01175811 Phase 4 Insulin Lispro Premix;Insulin Glargine;Insulin Lispro
8 Comparison of Twice-Daily Insulin Lispro Low Mixture Versus Once-Daily Basal Insulin Glargine and Once-Daily Prandial Insulin Lispro as Insulin Intensification Strategies in Patients With Type 2 Diabetes Who Have Inadequate Glycemic Control on Basal Insulin Glargine and Metformin and/or Pioglitazone Completed NCT01175824 Phase 4 Insulin Lispro Low Mixture (LM);Insulin Glargine;Prandial Insulin Lispro
9 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
10 One-Year Glargine-Treatment Can Ameliorate Clinical Features in Cystic Fibrosis Children and Adolescents With Glucose Derangements Completed NCT00483769 Phase 4 Glargine
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 Ezetimibe Reverse Cholesterol Transport (RCT) Pilot Study Completed NCT00701727 Phase 4 ezetimibe;Placebo
13 Estimation of Carbohydrate Metabolism Disorder Frequency in Hypertriglyceridemia Induced by Bexarotene Treatment of Cutaneous T Cell Lymphoma - Pilote Study Completed NCT01569724 Phase 4
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 How Does Magnesium Status Influence Calcium Homeostasis? Completed NCT01593501 Phase 4
16 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
17 Effect of Anthocyanins on Metabolic Profiles in Subjects With Pre-diabetes: A Randomized, Double-blind, Placebo-controlled Study Completed NCT02689765 Phase 4
18 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
19 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
20 Effects of an Individualized Training Program on Cardiovascular Function at Rest and During Exercise in Obese and in Type 2 Diabetic Subjects Completed NCT00264589 Phase 4
21 Improving Depression Treatment Outcomes With an Insulin-Sensitizing Agent Completed NCT00834652 Phase 4 Sertraline;Metformin
22 Effects of Insulin Sensitizers in Subjects With Impaired Glucose Tolerance Completed NCT00108615 Phase 4 Metformin;Pioglitazone;Metformin;Pioglitazone
23 A Randomized, Double‐Blind, Placebo Controlled Trial to Evaluate the Effects of Vitamin D Supplementation on Metabolic and Fertility Parameters in PCOS Women Completed NCT01721915 Phase 4 Vitamin D supplementation;Placebo
24 GLP-1 Agonism Stimulates Browning of Subcutaneous White Adipose Tissue in Obesity Men Completed NCT02170324 Phase 4 Exenatide;Placebo
25 The Effect of Insulin Degludec on Risk of Symptomatic Nocturnal Hypoglycaemia in Subjects With Type 1 Diabetes and High Risk of Nocturnal Severe Hypoglycaemia Completed NCT02192450 Phase 4 Insulin aspart/glargine;Insulin aspart/degludec
26 An Open-label, Randomised, Crossover, Reader Blinded, Study to Compare the Effect of Polyethylene Glycol 3350, Bisacodyl and Prucalopride on Colonic Motility Assessed With Intraluminal Colonic Manometry in Healthy Subjects Completed NCT03279341 Phase 4 polyethylene glycol;Bisacodyl;Prucalopride
27 Effects of Daily Tadalafil on Body Composition in Men With Sexual Distress Completed NCT02554045 Phase 4 Tadalafil;Placebo
28 Moderated-fat Diet Complemented With Green Tea Reduces oxLDL and Fat Mass in Obese Women: A Randomized, Controlled Clinical Trial Completed NCT01628705 Phase 4
29 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
30 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
31 Ondansetron Vs Metoclopramide in the Treatment of Vomiting in Gastroenteritis Patients: A Randomized Controlled Trial Completed NCT01165866 Phase 4 Treatment 1. Metoclopramide;Treatment 2 Ondansetron
32 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
33 The VICTORIA Study (Vascular CalcIfiCation and sTiffness Induced by ORal antIcoAgulation) Comparison Anti-vitamin K Versus Anti-Xa. Completed NCT02161965 Phase 4 Rivaroxaban;Fluindione;Warfarin
34 Is Paracetamol an Effective Treatment for Chronic Moderate Pain in the Newborn After Operative Vaginal Delivery? Completed NCT00488540 Phase 4 Paracetamol;Placebos
35 Efficacy of a Calcimimetic (Cinacalcet) in the Long Term Control of Patients With Primary Hyperparathyroidism Completed NCT02417389 Phase 4 cinacalcet;Alendronate
36 Metabolic and Vascular Effects of Silybin in Hypertensive Patients With High One-hour Post-load Plasma Glucose: a Single Arm Pilot Study Completed NCT03538327 Phase 4 Silybin
37 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
38 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
39 Impact of Liraglutide 3.0 on Body Fat Distribution, Visceral Adiposity, and Cardiometabolic Risk Markers In Overweight and Obese Adults at High Risk for Cardiovascular Disease Active, not recruiting NCT03038620 Phase 4 Liraglutide;Placebo
40 Effect of Vitamin D3 Supplementation on Arterial and Bone Remodeling in Chronic Kidney Disease Patients Active, not recruiting NCT02999204 Phase 4 Vitamin D3
41 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
42 Metformin for Treatment of Psoriasis Combined With Disorders of Glucose and Lipid Metabolism: A Double-Blind, Randomized, Placebo-Controlled Study Not yet recruiting NCT03629639 Phase 4 Metformin
43 Assessment of the Impact of Type of Probiotic, Delivery Type and Feeding Type on Baby's Microbiota After Dysbiotic Delivery Not yet recruiting NCT04304014 Phase 4
44 Response of Gut Microbiota in Type 2 Diabetes to Hypoglycemic Agents Not yet recruiting NCT04287387 Phase 4 Glucophage 500Mg Tablet;Acarbose Tablets;Sitagliptin tablet;Dapagliflozin Tablet;Pioglitazone Tablets;Glimepiride Tablets
45 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
46 Pilot Study of Extended-release Exenatide to Improve Glucose Control and Reduce Systemic Inflammation in Diabetic, HIV-infected Adults on Antiretroviral Therapy Terminated NCT01791465 Phase 4 extended-release exenatide
47 Fixed Combination for Lipid and Blood Pressure Control. Randomized Cross-over Study Withdrawn NCT03047538 Phase 4 Atorvastatin, Amlodipine, Perindopril
48 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
49 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
50 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

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

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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, Heart, Kidney, Testes, T Cells, Endothelial

Publications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Articles related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 132)
# Title Authors PMID Year
1
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. 61 56
1835339 1991
2
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. 56
16176262 2005
3
Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study. 56
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. 56
10347277 1999
5
Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation. 56
8825408 1996
6
Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults. 61
32253025 2020
7
Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study. 61
32463482 2020
8
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
9
Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association. 61
30747351 2019
10
CHOROIDAL NEOVASCULARIZATION ASSOCIATED WITH LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY. 61
31479012 2019
11
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. 61
31241292 2019
12
Serial fatty acid profiles in a preterm infant with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 61
31025818 2019
13
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
14
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates. 61
30136145 2018
15
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
16
[Acute liver failure related to inherited metabolic diseases in young children]. 61
28411097 2018
17
Follow-up and multimodal imaging in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 61
30364125 2018
18
Retinal Dystrophy in Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency. 61
31047310 2018
19
Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases. 61
28515471 2017
20
Energy exchangers with LCT as a precision method for diet control in LCHADD. 61
28791828 2017
21
Management of an LCHADD Patient During Pregnancy and High Intensity Exercise. 61
27334895 2017
22
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
23
Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function. 61
27639177 2016
24
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function. 61
27461099 2016
25
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases. 61
27491397 2016
26
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 61
26676313 2016
27
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. 61
26896063 2016
28
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy. 61
27078015 2016
29
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients. 61
26653362 2016
30
Round Table Discussion. 61
27931031 2016
31
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency. 61
26545880 2016
32
Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias. 61
26368264 2015
33
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. 61
26316438 2015
34
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
35
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast. 61
25141826 2015
36
Transient central diabetes insipidus induced by ketamine infusion. 61
25225198 2014
37
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases. 61
25022222 2014
38
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. 61
23430524 2013
39
[Long chain 3-hydroxyacyl-coA dehydrogenase deficiency, association with HELLP and magnetic resonance spectroscopy findings]. 61
22859334 2012
40
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. 61
22579592 2012
41
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations. 61
23430856 2012
42
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. 61
23430857 2012
43
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. 61
21347589 2011
44
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. 61
21252247 2011
45
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. 61
21103935 2011
46
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. 61
20814823 2010
47
Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening. 61
20659813 2010
48
Fatty acid oxidation disorders: outcome and long-term prognosis. 61
20049534 2010
49
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. 61
20670938 2010
50
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. 61
20583174 2010

Variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

6 (show top 50) (show all 62) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HADH NM_005327.7(HADH):c.261+1G>ASNV Pathogenic 802082 4:108931044-108931044 4:108009888-108009888
2 HADH NM_005327.7(HADH):c.587del (p.Ser196fs)deletion Pathogenic 802083 4:108944670-108944670 4:108023514-108023514
3 HADH NM_005327.5(HADH):c.118G>A (p.Ala40Thr)SNV Pathogenic 8018 rs137853101 4:108911206-108911206 4:107990050-107990050
4 HADH NM_005327.5(HADH):c.171C>A (p.Asp57Glu)SNV Pathogenic 8019 rs137853102 4:108930953-108930953 4:108009797-108009797
5 HADH NM_005327.7(HADH):c.133-15C>TSNV Conflicting interpretations of pathogenicity 902148 4:108930900-108930900 4:108009744-108009744
6 HADH NM_005327.5(HADH):c.662G>A (p.Arg221His)SNV Conflicting interpretations of pathogenicity 393392 rs76476980 4:108948869-108948869 4:108027713-108027713
7 HADH NM_005327.7(HADH):c.*383G>CSNV Conflicting interpretations of pathogenicity 900589 4:108955896-108955896 4:108034740-108034740
8 HADH NM_005327.7(HADH):c.*514A>GSNV Conflicting interpretations of pathogenicity 900590 4:108956027-108956027 4:108034871-108034871
9 HADH NM_005327.5(HADH):c.275T>G (p.Phe92Cys)SNV Conflicting interpretations of pathogenicity 211126 rs61735992 4:108935600-108935600 4:108014444-108014444
10 HADH NM_005327.5(HADH):c.456G>T (p.Gln152His)SNV Conflicting interpretations of pathogenicity 211127 rs1051519 4:108940732-108940732 4:108019576-108019576
11 HADH NM_005327.5(HADH):c.676T>C (p.Tyr226His)SNV Conflicting interpretations of pathogenicity 212734 rs146036912 4:108948883-108948883 4:108027727-108027727
12 HADH NM_005327.5(HADH):c.643C>A (p.Pro215Thr)SNV Conflicting interpretations of pathogenicity 549514 rs140413151 4:108948850-108948850 4:108027694-108027694
13 HADH NM_005327.7(HADH):c.*168A>TSNV Conflicting interpretations of pathogenicity 903081 4:108955681-108955681 4:108034525-108034525
14 HADH NM_005327.7(HADH):c.614G>C (p.Gly205Ala)SNV Conflicting interpretations of pathogenicity 705617 rs144699575 4:108944697-108944697 4:108023541-108023541
15 HADH NM_005327.5(HADH):c.291G>T (p.Leu97=)SNV Conflicting interpretations of pathogenicity 347134 rs552317372 4:108935616-108935616 4:108014460-108014460
16 HADH NM_001184705.2(HADH):c.-102G>ASNV Conflicting interpretations of pathogenicity 347125 rs182097151 4:108910987-108910987 4:107989831-107989831
17 HADH NM_001184705.2(HADH):c.-195A>GSNV Uncertain significance 347122 rs886058979 4:108910894-108910894 4:107989738-107989738
18 HADH NM_005327.5(HADH):c.72G>A (p.Lys24=)SNV Uncertain significance 347132 rs781319494 4:108911160-108911160 4:107990004-107990004
19 HADH NM_005327.5(HADH):c.889G>A (p.Val297Ile)SNV Uncertain significance 347135 rs376876153 4:108955457-108955457 4:108034301-108034301
20 HADH NM_005327.5(HADH):c.*59G>ASNV Uncertain significance 347136 rs529762487 4:108955572-108955572 4:108034416-108034416
21 HADH NM_005327.5(HADH):c.*600C>TSNV Uncertain significance 347139 rs544321475 4:108956113-108956113 4:108034957-108034957
22 HADH NM_001184705.2(HADH):c.-195A>CSNV Uncertain significance 347121 rs886058979 4:108910894-108910894 4:107989738-107989738
23 HADH NM_001184705.2(HADH):c.-115deldeletion Uncertain significance 347124 rs537335460 4:108910974-108910974 4:107989818-107989818
24 HADH NM_005327.5(HADH):c.-36C>TSNV Uncertain significance 347130 rs746854470 4:108911053-108911053 4:107989897-107989897
25 HADH NM_001184705.2(HADH):c.-51deldeletion Uncertain significance 347128 rs574132278 4:108911038-108911038 4:107989882-107989882
26 HADH NM_005327.7(HADH):c.*279C>ASNV Uncertain significance 899454 4:108955792-108955792 4:108034636-108034636
27 HADH NM_005327.7(HADH):c.*335C>ASNV Uncertain significance 899455 4:108955848-108955848 4:108034692-108034692
28 HADH NM_005327.7(HADH):c.*377G>ASNV Uncertain significance 899456 4:108955890-108955890 4:108034734-108034734
29 HADH NM_005327.5(HADH):c.100G>C (p.Gly34Arg)SNV Uncertain significance 659541 4:108911188-108911188 4:107990032-107990032
30 HADH NM_005327.5(HADH):c.266G>A (p.Gly89Asp)SNV Uncertain significance 640701 4:108935591-108935591 4:108014435-108014435
31 HADH NM_005327.5(HADH):c.349G>C (p.Val117Leu)SNV Uncertain significance 652881 4:108935674-108935674 4:108014518-108014518
32 HADH NM_005327.5(HADH):c.908G>T (p.Gly303Val)SNV Uncertain significance 647412 4:108955476-108955476 4:108034320-108034320
33 HADH NM_005327.7(HADH):c.479C>T (p.Thr160Ile)SNV Uncertain significance 864194 4:108940755-108940755 4:108019599-108019599
34 HADH NM_005327.7(HADH):c.494G>A (p.Arg165Gln)SNV Uncertain significance 860765 4:108940770-108940770 4:108019614-108019614
35 HADH NC_000004.12:g.107989730A>GSNV Uncertain significance 902091 4:108910886-108910886 4:107989730-107989730
36 HADH NC_000004.12:g.107989847G>TSNV Uncertain significance 902970 4:108911003-108911003 4:107989847-107989847
37 HADH NC_000004.12:g.107989877C>ASNV Uncertain significance 900414 4:108911033-108911033 4:107989877-107989877
38 HADH NM_005327.7(HADH):c.-34C>TSNV Uncertain significance 900482 4:108911055-108911055 4:107989899-107989899
39 HADH NM_005327.7(HADH):c.159A>G (p.Val53=)SNV Uncertain significance 902149 4:108930941-108930941 4:108009785-108009785
40 HADH NM_005327.7(HADH):c.264C>T (p.Ala88=)SNV Uncertain significance 903028 4:108935589-108935589 4:108014433-108014433
41 HADH NM_005327.7(HADH):c.688G>A (p.Ala230Thr)SNV Uncertain significance 900535 4:108948895-108948895 4:108027739-108027739
42 HADH NM_005327.7(HADH):c.809C>T (p.Thr270Met)SNV Uncertain significance 902197 4:108954431-108954431 4:108033275-108033275
43 HADH NM_005327.7(HADH):c.823G>A (p.Asp275Asn)SNV Uncertain significance 902198 4:108954445-108954445 4:108033289-108033289
44 HADH NM_005327.7(HADH):c.825T>G (p.Asp275Glu)SNV Uncertain significance 902199 4:108954447-108954447 4:108033291-108033291
45 HADH NM_005327.7(HADH):c.*142G>ASNV Uncertain significance 903080 4:108955655-108955655 4:108034499-108034499
46 HADH NM_005327.5(HADH):c.21G>A (p.Gln7=)SNV Uncertain significance 347131 rs886058980 4:108911109-108911109 4:107989953-107989953
47 HADH NM_005327.5(HADH):c.240G>A (p.Lys80=)SNV Uncertain significance 347133 rs748623569 4:108931022-108931022 4:108009866-108009866
48 HADH NM_005327.5(HADH):c.*305T>ASNV Uncertain significance 347138 rs3822294 4:108955818-108955818 4:108034662-108034662
49 HADH NM_005327.5(HADH):c.*661dupduplication Uncertain significance 347140 rs886058981 4:108956168-108956169 4:108035012-108035013
50 HADH NM_005327.7(HADH):c.132+6C>GSNV Uncertain significance 902147 4:108911226-108911226 4:107990070-107990070

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

73
# 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 16)
# 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
Show member pathways
12.02 HADHA GLUD1 GCK
5 11.86 HADHA GCK ACADM
6
Show member pathways
11.7 HSD17B10 HADHA HADH ACADM
7
Show member pathways
11.57 HSD17B10 HADHA HADH
8 11.54 HADH GLUD1 ACADM
9
Show member pathways
11.38 HADHA HADH ACADVL ACADM
10 11.34 HADHA HADH
11
Show member pathways
11.27 HSD17B10 HADH
12
Show member pathways
11.12 HADHA HADH
13
Show member pathways
10.98 HADHA HADH ACADVL ACADM
14
Show member pathways
10.76 HSD17B10 HADHA
15 10.57 HADH GCK ACADVL ACADM
16
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 intermediate filament cytoskeleton GO:0045111 9.26 VIM KRT8
3 mitochondrial nucleoid GO:0042645 9.16 HADHA ACADVL
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 9.63 HSD17B10 HADHA HADH GLUD1 ACADVL ACADM
2 fatty acid metabolic process GO:0006631 9.56 HADHA HADH ACADVL ACADM
3 lipid metabolic process GO:0006629 9.43 MTTP HSD17B10 HADHA HADH ACADVL ACADM
4 positive regulation of insulin secretion GO:0032024 9.4 GLUD1 GCK
5 response to cold GO:0009409 9.37 ACADVL ACADM
6 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.32 ACADVL ACADM
7 fatty acid beta-oxidation GO:0006635 8.92 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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