Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
very long chain acyl-CoA dehydrogenase deficiency (DOID:0080155)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
2,4-Dienoyl-CoA Reductase Deficiency  
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
Acetyl-Coa Carboxylase Deficiency  
adult-onset ataxia and polyneuropathy  
alpha-methylacyl-CoA racemase deficiency  
Apolipoprotein A-I, Deficiency of +   
APOLIPOPROTEIN A-II DEFICIENCY  
Apolipoprotein E, Deficiency or Defect of +   
Arthrogryposis +   
atrophic muscular disease +   
Axial Myopathy, Late-Onset +   
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Barth syndrome +   
Bjornstad syndrome  
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
carbamoyl phosphate synthetase I deficiency disease  
Carey-Fineman-Ziter syndrome  
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis  
Childhood Myocerebrohepatopathy Spectrum 
chronic fatigue syndrome  
chylomicron retention disease  
CK syndrome  
coenzyme Q10 deficiency disease +   
combined oxidative phosphorylation deficiency +   
compartment syndrome +   
Congenital Lp(A) Deficiency  
Congenital Myopathy with Neuropathy and Deafness  
Contracture +   
Cowden-Like Syndrome  
Craniomandibular Disorders +   
cytochrome-c oxidase deficiency disease +   
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
D-bifunctional protein deficiency  
deafness-dystonia-optic neuronopathy syndrome  
Deoxyguanosine Kinase Deficiency  
Desmosterolosis  
diaphragm disease +   
Dimauro Disease  
Dyslipidemias +   
early infantile epileptic encephalopathy 39  
Early-Onset Myopathy with Fatal Cardiomyopathy  
Ehlers-Danlos syndrome kyphoscoliotic type 2  
encephalopathy due to defective mitochondrial and peroxisomal fission 1  
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
eosinophilia-myalgia syndrome  
Erythrocyte Amp Deaminase Deficiency  
Erythrocyte Lactate Transporter Defect  
ethylmalonic encephalopathy  
familial combined hyperlipidemia +   
familial hyperlipidemia +   
familial periodic paralysis +   
fibromyalgia +   
Fingerprint Body Myopathy 
Friedreich ataxia +   
Gamstorp-Wohlfart syndrome  
Glycosylphosphatidylinositol Deficiency +   
GRACILE syndrome  
Hepatic Lipase Deficiency  
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
hyperlipoproteinemia type IV  
Hypermetabolism due to Defect in Mitochondria 
Hypertriglyceridemia, Transient Infantile  
Hypertrophia Musculorum Vera 
hypolipoproteinemia +   
hypomyelinating leukodystrophy 4  
hypotonia-cystinuria syndrome  
Internal Anal Sphincter Myopathy 
Kocher-Debre-Semelaigne Syndrome 
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leber hereditary optic neuropathy +   
Leigh disease +   
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
lipid storage disease +   
lipodystrophy +   
lipoid proteinosis  
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
Marinesco-Sjogren syndrome  
Medial Tibial Stress Syndrome 
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
medium chain acyl-CoA dehydrogenase deficiency  
MEND syndrome  
Mitochondrial Cardiomyopathy  
mitochondrial complex I deficiency +   
mitochondrial complex II deficiency  
mitochondrial complex III deficiency +   
mitochondrial complex V (ATP synthase) deficiency +   
Mitochondrial Cytopathy +   
mitochondrial DNA depletion syndrome +   
Mitochondrial DNA Depletion Syndrome, Myopathic Form +   
Mitochondrial Phosphate Carrier Deficiency  
mitochondrial pyruvate carrier deficiency  
multiple acyl-CoA dehydrogenase deficiency +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
multiple mitochondrial dysfunctions syndrome +   
Muscle Cramp +   
Muscle Rigidity +   
Muscle Spasticity +   
muscle tissue disease +   
Muscle Weakness +   
Muscular Hypoplasia, Congenital Universal, of Krabbe 
Musculoskeletal Pain +   
Myalgia +   
myofascial pain syndrome +   
Myopathic Carnitine Deficiency 
Myopathy with Abnormal Lipid Metabolism  
Myopathy with Giant Abnormal Mitochondria 
Myopathy with Lactic Acidosis, Hereditary  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopathy, Granulovacuolar Lobular, with Electrical Myotonia 
myositis +   
myostatin-related muscle hypertrophy  
myotonic disease +   
Myotoxicity 
neutral lipid storage disease +   
Noninsulin-Dependent Diabetes Mellitus with Deafness  
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
optic atrophy 1  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Pancreatic Lipase Deficiency  
Parkinson's Disease, Mitochondrial  
Pearson syndrome  
Pectoralis Muscle, Absence of 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
peroxisomal acyl-CoA oxidase deficiency  
Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder   
Phospholipase A2, Group IVA, Deficiency of  
Progressive External Ophthalmoplegia with Hypogonadism 
Proximal Myopathy with Focal Depletion of Mitochondria 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Refsum disease +   
Rhabdomyolysis +   
Sarcosinemia  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
short chain acyl-CoA dehydrogenase deficiency  
Singleton Merten Syndrome +   
sitosterolemia +   
Skeletal Muscle Injuries  
Skeletal Muscle Reperfusion Injury  
Smith-Lemli-Opitz syndrome +   
Spinocerebellar Ataxia with Epilepsy  
steroid inherited metabolic disorder +   
Succinate-Coa Ligase Deficiency +   
syndromic X-linked intellectual disability type 10  
systemic primary carnitine deficiency disease  
Tel Hashomer Camptodactyly Syndrome 
tendinitis +   
Treft Sanborn Carey Syndrome 
Triglyceride Storage Disease, Type I 
Triglyceride Storage Disease, Type II 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Uruguay faciocardiomusculoskeletal syndrome  
Vacuolar Myopathy  
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids. (DO)
Wolfram syndrome 2  
xanthomatosis +   

Synonyms
Exact Synonyms: ACADVL ;   ACADVLD ;   VLCAD deficiency ;   VLCAD-H ;   Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency ;   Vlcad-C ;   deficiency of very long-chain Acyl-CoA dehydrogenase
Related Synonyms: exercise induced metabolic myopathy
Primary IDs: MESH:C536353
Alternate IDs: OMIA:002140 ;   OMIM:201475 ;   RDO:0001906
Xrefs: NCI:C98647
Definition Sources: http://rarediseases.org/rare-diseases/very-long-chain-acyl-coa-dehydrogenase-deficiency-lcad/ "DO", https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency "DO"

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.