HADH DEFICIENCY
MCID: 3HY005
MIFTS: 60

3-Hydroxyacyl-Coa Dehydrogenase Deficiency (HADH DEFICIENCY) malady

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Aliases & Descriptions for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

Name: 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 54 25 13 69
Deficiency of 3-Hydroxyacyl-Coa Dehydrogenase 25 29
Metabolic Diseases 42 69
Schad Deficiency 25 66
Hadh Deficiency 25 66
Had Deficiency 25 66
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 66
Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 66
M/schad Deficiency 25
Hadhsc Deficiency 25

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 231530
MedGen 40 C1291230
MeSH 42 D008659

Summaries for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

UniProtKB/Swiss-Prot : 66 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency: A metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death.

MalaCards based summary : 3-Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as deficiency of 3-hydroxyacyl-coa dehydrogenase, is related to mineral metabolism disease and iron metabolism disease, and has symptoms including muscular hypotonia, feeding difficulties in infancy and hypertrophic cardiomyopathy. An important gene associated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency is HADH (Hydroxyacyl-CoA Dehydrogenase), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Oseltamivir and Pancrelipase have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and brain, and related phenotypes are cardiovascular system and growth/size/body region

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).

Description from OMIM: 231530

Related Diseases for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

(show top 50) (show all 114)
id Related Disease Score Top Affiliating Genes
1 mineral metabolism disease 12.0
2 iron metabolism disease 11.8
3 plasma protein metabolism disease 11.8
4 mitochondrial metabolism disease 11.7
5 phosphorus metabolism disease 11.7
6 acquired metabolic disease 11.7
7 glucose metabolism disease 11.7
8 histidine metabolism disease 11.7
9 lchad deficiency 11.5
10 3-hydroxyacyl-coenzyme a dehydrogenase deficiency 11.5
11 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.4
12 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 11.2
13 tay-sachs disease 11.0
14 amyloidosis 11.0
15 abdominal obesity-metabolic syndrome 1 11.0
16 diabetes mellitus, insulin-dependent 10.8
17 hyperprolactinemia 10.8
18 gracile syndrome 10.8
19 carbamoylphosphate synthetase i deficiency 10.8
20 lactic acidosis 10.8
21 emphysema due to aat deficiency 10.8
22 hemochromatosis, neonatal 10.8
23 d-glyceric aciduria 10.8
24 histidinemia 10.8
25 mitochondrial complex iii deficiency, nuclear type 5 10.8
26 succinyl coa:3-oxoacid coa transferase deficiency 10.8
27 malonyl-coa decarboxylase deficiency 10.8
28 combined malonic and methylmalonic aciduria 10.8
29 argininemia 10.8
30 mitochondrial complex v deficiency, nuclear type 1 10.8
31 mitochondrial complex deficiency, nuclear type 4 10.8
32 fructose intolerance 10.8
33 mannosidosis, alpha-, types i and ii 10.8
34 3-hydroxyisobutryl-coa hydrolase deficiency 10.8
35 craniosynostosis 10.6
36 myopathy with lactic acidosis, hereditary 10.4
37 fatal infantile encephalocardiomyopathy 10.4
38 spasticity 10.4
39 mohr-tranebjaerg syndrome 10.4
40 coenzyme q10 deficiency disease 10.4
41 6-phosphogluconate dehydrogenase deficiency 10.4
42 hemosiderosis 10.4
43 6-mercaptopurine sensitivity 10.4
44 mitochondrial complex iii deficiency, nuclear type 2 10.4
45 olivopontocerebellar atrophy 10.4
46 chronic hiccups 10.4
47 mitochondrial complex v deficiency, nuclear type 2 10.4
48 calcinosis 10.4
49 mucolipidoses 10.4
50 hyperuricemia 10.4

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



Diseases related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Symptoms & Phenotypes for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Symptoms by clinical synopsis from OMIM:

231530

Clinical features from OMIM:

231530

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

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 feeding difficulties in infancy 32 HP:0008872
3 hypertrophic cardiomyopathy 32 HP:0001639
4 hepatic steatosis 32 HP:0001397
5 growth delay 32 HP:0001510
6 dilated cardiomyopathy 32 HP:0001644
7 hypoglycemic seizures 32 HP:0002173
8 hypoketotic hypoglycemia 32 HP:0001985
9 myoglobinuria 32 HP:0002913
10 dicarboxylic aciduria 32 HP:0003215
11 hepatic necrosis 32 HP:0002605
12 fulminant hepatic failure 32 HP:0004448
13 hypoglycemic encephalopathy 32 HP:0006929

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


emaciation

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 VIM ACADM ACADVL HADHA KRT8 MTTP
2 growth/size/body region MP:0005378 9.7 ACADVL GCK GLUD1 HADH HADHA KRT8
3 homeostasis/metabolism MP:0005376 9.61 ACADM ACADVL GCK GLUD1 HADH HADHA
4 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 910)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oseltamivir Approved Phase 4 204255-11-8, 196618-13-0 65028
2
Pancrelipase Approved Phase 4,Phase 2,Phase 3,Phase 1 53608-75-6
3
Zinc Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7440-66-6 32051 23994
4
Acarbose Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 56180-94-0 441184
5
Glipizide Approved Phase 4,Phase 3,Phase 2,Phase 1 29094-61-9 3478
6
Propylthiouracil Approved Phase 4 51-52-5 657298
7
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 1 83-43-2 6741
8
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 1 50-24-8 5755
9
Prednisone Approved, Vet_approved Phase 4,Phase 1,Phase 2,Early Phase 1 53-03-2 5865
10
Sevelamer Approved Phase 4,Phase 3 52757-95-6, 152751-57-0 3085017
11
Alendronate Approved Phase 4,Phase 2 121268-17-5, 66376-36-1 2088
12
Simvastatin Approved Phase 4,Phase 3,Phase 2,Phase 1 79902-63-9 54454
13
Insulin Aspart Approved Phase 4,Phase 3,Phase 2,Phase 1 116094-23-6 16132418
14
Insulin Detemir Approved Phase 4,Phase 3,Phase 1 169148-63-4 5311023
15
Glimepiride Approved Phase 4,Phase 3,Phase 2,Phase 1 93479-97-1 3476
16
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 14219 4091
17
Vildagliptin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 274901-16-5 6918537
18
Linagliptin Approved Phase 4,Phase 3,Phase 2,Phase 1 668270-12-0 10096344
19
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 111025-46-8 4829
20
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-78-2 2244
21
Cilostazol Approved Phase 4 73963-72-1 2754
22
Atenolol Approved Phase 4 29122-68-7 2249
23
Saxagliptin Approved Phase 4,Phase 3,Phase 1 361442-04-8 11243969
24
Insulin Glargine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 160337-95-1
25
Insulin Lispro Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 133107-64-9
26
Glyburide Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 10238-21-8 3488
27
Alogliptin Approved Phase 4,Phase 3,Phase 2,Phase 1 850649-61-5 11450633
28
Acetaminophen Approved Phase 4,Phase 2,Phase 1,Early Phase 1 103-90-2 1983
29
Insulin-glulisine Approved Phase 4,Phase 2,Phase 1 207748-29-6
30
Liraglutide Approved Phase 4,Phase 3,Phase 2,Phase 1 204656-20-2
31
Orlistat Approved, Investigational Phase 4,Phase 3,Phase 2 96829-58-2 3034010
32
Everolimus Approved Phase 4,Phase 2,Phase 1 159351-69-6 6442177
33
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 22916-47-8 4189
34
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
35
Exenatide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 141758-74-9 15991534
36
Ethanol Approved Phase 4,Phase 3,Phase 1,Phase 2 64-17-5 702
37
Ezetimibe Approved Phase 4,Phase 3,Phase 2,Phase 1 163222-33-1 150311
38
Valsartan Approved, Investigational Phase 4,Phase 3 137862-53-4 60846
39
Octreotide Approved, Investigational Phase 4,Phase 2,Phase 1 83150-76-9 383414 6400441
40
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
41
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 50-28-2 5757 53477783
42
Ethinyl Estradiol Approved Phase 4,Phase 1 57-63-6 5991
43
Fenofibrate Approved Phase 4,Phase 3,Phase 2,Phase 1 49562-28-9 3339
44
Rosiglitazone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 122320-73-4 77999
45
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1 7439-89-6 23925
46
Pravastatin Approved Phase 4,Phase 3,Phase 2,Phase 1 81093-37-0 54687
47
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
48
Calcium acetate Approved Phase 4,Phase 3,Phase 1 62-54-4
49
Calcium carbonate Approved Phase 4,Phase 3,Phase 2 471-34-1
50
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986

Interventional clinical trials:

(show top 50) (show all 5004)
id Name Status NCT ID Phase
1 Characterisation of the Human Carboxylesterase 1 (CES1) Mutations in Thailand Unknown status NCT01443806 Phase 4
2 Mixed Meal Test in Type 1 Diabetes: Optimization of Artificial Pancreas-Pilot Study Unknown status NCT01800734 Phase 4
3 Mixed Meal Test in Type 1 Diabetes on Insulin Pump Therapy: Optimization of Artificial Pancreas Unknown status NCT02003274 Phase 4
4 Efficacy of Acarbose on Intestinal Microbiome and Incretins of Type 2 Diabetes Unknown status NCT01758471 Phase 4
5 Comparing a Nucleoside-Analogue-Sparing Regimen and a Protease-Inhibitor-Sparing Regimen in HIV Infected Patients Unknown status NCT00135460 Phase 4
6 Trial of Supplementation With Aged Garlic Extract to Improve Endothelial Function in Patients With Metabolic Syndrome Unknown status NCT01168700 Phase 4
7 Intensive Versus Nonintensive Insulin Therapy for Hyperglycemia After Traumatic Brain Injury Unknown status NCT02161055 Phase 4
8 The Effect of Early Total Thyroidectomy in the Course of Graves' Orbitopathy Unknown status NCT01056419 Phase 4
9 A Prospective, Randomized Trial of Intravenous Pulse Versus Sequential Steroid Therapy for Patients With Graves' Orbitopathy Unknown status NCT01969019 Phase 4
10 How Bone is Made in Children Receiving Dialysis Unknown status NCT01799317 Phase 4
11 Alendronate for Vascular Calcification in Peritoneal Dialysis Patients? Unknown status NCT00299572 Phase 4
12 Efficacy and Safety Study of 5 mg and 10 mg Rosuvastatin Unknown status NCT01613729 Phase 4
13 An Open-Label Extension to Assess the Continued Efficacy of Omacor Plus Simvastatin Unknown status NCT00678743 Phase 4
14 Lactate and Hypoglycemia Unknown status NCT01387477 Phase 4
15 Vitamin D and Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4
16 Prevalence of Macrovascular Disease in Type 2 Diabetes Mellitus Unknown status NCT00298844 Phase 4
17 Korean AMADEUS Study Unknown status NCT01239849 Phase 4
18 Multifactorial Intervention in Type 2 Diabetes - Italy Unknown status NCT01240070 Phase 4
19 Insulin Effects on Metabolism and Cardiovascular Function in Type 2 Diabetes Unknown status NCT00747409 Phase 4
20 Effect of Adding Vildagliptin on Beta Cell Function and Cardiovascular Risk Markers in Patients With Moderate Metabolic Control During Metformin Monotherapy Unknown status NCT01565096 Phase 4
21 Effect of Linagliptin in Comparison With Glimepiride as Add on to Metformin on Postprandial Beta Cell Function, Postprandial Metabolism and Oxidative Stress in Patients With Type 2 Diabetes Mellitus Unknown status NCT01547104 Phase 4
22 Efficacy and Safety of Lobeglitazone Versus Sitagliptin Unknown status NCT02480465 Phase 4
23 Triple Therapy in Type 2 Diabetic Patients Unknown status NCT01895569 Phase 4
24 Cilostazol Versus Aspirin for Primary Prevention of Atherosclerotic Events Unknown status NCT00886574 Phase 4
25 Examining Genetic Influence on Response to Beta-Blocker Medications in People With Type 2 Diabetes Unknown status NCT00925119 Phase 4
26 Glucagon Like Peptides Receptors Expression in the Stomach of Diabetes Type 2 Unknown status NCT00473733 Phase 4
27 Continuous Glucose Monitoring in Patients With Type 2 Diabetes Unknown status NCT00529815 Phase 4
28 Oxidative Stress Lowering Effect of Simvastatin and Atorvastatin. Unknown status NCT00404599 Phase 4
29 Vascular Effects of Sitagliptin in Diabetes Mellitus Unknown status NCT01096277 Phase 4
30 Multiple Grain in Type 2 Diabetes Unknown status NCT00337337 Phase 4
31 Outpatient Discharge Therapy With Saxagliptin+MetforminXR vs GlipizideXL for Type 2 Diabetes With Severe Hyperglycemia Unknown status NCT01267448 Phase 4
32 Organization Program of DiabEtes INsulIN ManaGement Unknown status NCT01338376 Phase 4
33 Metformin and Sitagliptin Therapy for Adult Patients With Type 2 Diabetes Admitted to the General Medical Unit Unknown status NCT02250794 Phase 4
34 Effects of Vildagliptin Versus Glibenclamide on Glycemia After Exercise in Patients With Type 2 Diabetes Unknown status NCT01867502 Phase 4
35 Bone Turnover in Type 2 Diabetes Patients Unknown status NCT00732121 Phase 4
36 The Efficacy of Glucerna SR in Chinese Drug-naïve Subjects With Type 2 Diabetes Unknown status NCT02248714 Phase 4
37 Comparison of Pioglitazone Versus Glimepiride in Type 2 Diabetes Inadequately Controlled With Metformin Plus Alogliptin Unknown status NCT02426294 Phase 4
38 Mechanistic Study of the Systolic Blood Pressure Lowering Effect of Dapagliflozin in Type 2 Diabetes Unknown status NCT02372955 Phase 4
39 Clinical Study to Compare Various Dosing and Titration Guidelines of Insulin Delivered Via V-Go ® in Patients With Type 2 Diabetes Initiating Basal Bolus Therapy in Primary Care Offices Unknown status NCT02361489 Phase 4
40 The Effect of Combination of Mosapride and DPP-4 Inhibitor on Plasma Concentration of Incretin Hormones Unknown status NCT02180334 Phase 4
41 TReatment by Insulin Continuous Infusion in Type 2 DIAbetes Unknown status NCT01889914 Phase 4
42 Effect of Liraglutide Combined With Short-term CSII on Long-term Glycemic Remission and β Cell Function Unknown status NCT01790308 Phase 4
43 Combinatorial Therapy for Peristent Type 2 Diabetes After Gastric Banding Unknown status NCT01597531 Phase 4
44 The Titan Versus Everolimus Intracoronary Stent (Xience V) in Diabetic Patients Unknown status NCT01510509 Phase 4
45 Establishing Cardiovascular Biomarkers to Define Preferred Lantus® Use Unknown status NCT01500850 Phase 4
46 Study of Comparison the Treatment Effect Between Gastric Bypass and Exenatide in Type 2 Diabetes Unknown status NCT01435980 Phase 4
47 Human Insulin Analogs: Evaluation of Inflammatory mRNA Expression of Macrophages and Endothelial Function of Short-acting Insulin - HERMES Pilot Study Unknown status NCT01417897 Phase 4
48 German Diabetes-Diet-Intervention and Energy Restriction-Trial (DDIET) Unknown status NCT01409330 Phase 4
49 Compare the Effect of DPP-IV Inhibitor or TZD on Glycemic Variability and Oxidative Stress in Patient With 2 Diabetes Unknown status NCT01339143 Phase 4
50 Investigation of a Switch From Insulin Therapy to a Metformin & Saxagliptin Combination in Patients With Type 2 Diabetes Mellitus Unknown status NCT01206647 Phase 4

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

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: metabolic diseases

Genetic Tests for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

id Genetic test Affiliating Genes
1 Deficiency of 3-Hydroxyacyl-Coa Dehydrogenase 29

Anatomical Context for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

39
Liver, Eye, Brain, Skeletal Muscle, Fetal Liver

Publications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Articles related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 67)
id Title Authors Year
1
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients. ( 26653362 )
2016
2
Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function. ( 27639177 )
2016
3
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. ( 26896063 )
2016
4
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 26676313 )
2016
5
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy. ( 27078015 )
2016
6
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function. ( 27461099 )
2016
7
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 26024122 )
2015
8
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 23430524 )
2013
9
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. ( 23430857 )
2012
10
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. ( 22579592 )
2012
11
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. ( 21347589 )
2011
12
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. ( 20814823 )
2010
13
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. ( 20670938 )
2010
14
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor. ( 18465739 )
2008
15
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Presentation of a long-term survivor. ( 28221621 )
2008
16
[Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. ( 19107076 )
2008
17
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up. ( 18162058 )
2008
18
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with inadvertent caries in infants. ( 17181583 )
2007
19
Ten year follow up of pigmentary retinopathy associated with 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 16167072 )
2006
20
Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 15347768 )
2004
21
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12872842 )
2003
22
Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12971430 )
2003
23
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
24
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). ( 12660866 )
2003
25
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency? ( 12971423 )
2003
26
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12809642 )
2003
27
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle? ( 14641012 )
2003
28
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. ( 11773547 )
2002
29
[LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]. ( 12637776 )
2002
30
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 11719334 )
2001
31
Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12537820 )
2001
32
Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 11040918 )
2000
33
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. ( 10682306 )
2000
34
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls. ( 10789927 )
2000
35
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings. ( 10653342 )
2000
36
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities. ( 10638050 )
1999
37
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey. ( 10234607 )
1999
38
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. ( 10518286 )
1999
39
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea. ( 10518285 )
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: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. ( 10518281 )
1999
42
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 10229030 )
1999
43
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. ( 10331463 )
1999
44
Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. ( 9663844 )
1998
45
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy. ( 9593380 )
1998
46
Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. ( 9185222 )
1997
47
Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 9240910 )
1997
48
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations. ( 9266371 )
1997
49
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation. ( 8938697 )
1996
50
Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 8803788 )
1996

Variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 GHRL NM_001134944.1(GHRL): c.178C> A (p.Leu60Met) single nucleotide variant Pathogenic,risk factor rs696217 GRCh37 Chromosome 3, 10331457: 10331457
2 HADH NM_005327.4(HADH): c.118G> A (p.Ala40Thr) single nucleotide variant Pathogenic rs137853101 GRCh37 Chromosome 4, 108911206: 108911206
3 HADH NM_005327.4(HADH): c.171C> A (p.Asp57Glu) single nucleotide variant Pathogenic rs137853102 GRCh37 Chromosome 4, 108930953: 108930953
4 HADH NM_001184705.2(HADH): c.676T> C (p.Tyr226His) single nucleotide variant Likely pathogenic rs146036912 GRCh37 Chromosome 4, 108948883: 108948883

Expression for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

Pathways for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

(show all 19)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 ACADM ACADVL GCK GLUD1 HADH HADHA
2
Show member pathways
12.6 ACADM ACADVL HADH HADHA
3
Show member pathways
12.03 ACADM GCK GLUD1 HADHA
4
Show member pathways
11.93 HADH HADHA HSD17B10
5 11.87 ACADM GCK HADHA
6
Show member pathways
11.74 ACADM HADH HADHA HSD17B10
7
Show member pathways
11.59 ACADM ACADVL HADH HADHA
8 11.57 ACADM GLUD1 HADH
9
Show member pathways
11.38 ACADM ACADVL HADH HADHA
10 11.35 HADH HADHA
11
Show member pathways
11.3 HADH HSD17B10
12
Show member pathways
11.25 HADH HADHA
13
Show member pathways
11.14 HADH HADHA
14
Show member pathways
11.08 ACADM HADHA
15 11.04 ACADM HADHA
16
Show member pathways
10.98 ACADM ACADVL HADH HADHA
17 10.57 HADHA HSD17B10
18 10.57 ACADM ACADVL GCK HADH
19
Show member pathways
10.33 ACADM HADH HADHA

GO Terms for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.5 ACADM ACADVL GCK GLUD1 HADH HADHA
2 mitochondrial nucleoid GO:0042645 9.16 ACADVL HADHA
3 mitochondrial matrix GO:0005759 9.02 ACADM ACADVL GLUD1 HADH HSD17B10

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

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.67 ACADM ACADVL GCK HADHA
2 oxidation-reduction process GO:0055114 9.63 ACADM ACADVL GLUD1 HADH HADHA HSD17B10
3 fatty acid metabolic process GO:0006631 9.56 ACADM ACADVL HADH HADHA
4 positive regulation of insulin secretion GO:0032024 9.43 GCK GLUD1
5 lipid metabolic process GO:0006629 9.43 ACADM ACADVL HADH HADHA HSD17B10 MTTP
6 response to cold GO:0009409 9.4 ACADM ACADVL
7 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.32 ACADM ACADVL
8 fatty acid beta-oxidation GO:0006635 8.92 ACADM ACADVL HADH HADHA

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.43 ACADM ACADVL GLUD1 HADH HADHA HSD17B10
2 flavin adenine dinucleotide binding GO:0050660 9.4 ACADM ACADVL
3 scaffold protein binding GO:0097110 9.37 KRT8 VIM
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 ACADM ACADVL
5 NAD+ binding GO:0070403 9.26 GLUD1 HADH
6 acyl-CoA dehydrogenase activity GO:0003995 9.16 ACADM ACADVL
7 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.8 HADH HADHA HSD17B10

Sources for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....