eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| very long chain acyl-coa dehydrogenase deficiency | ||||
| Disease ID | 1102 |
|---|---|
| Disease | very long chain acyl-coa dehydrogenase deficiency |
| Definition | An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis. |
| Synonym | acadvld acyl-coa dehydrogenase very long chain deficiency acyl-coa dehydrogenase, very long-chain deficiency acyl-coa dehydrogenase, very long-chain, deficiency of sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction very long chain acyl-coa dehydrogenase deficiency (disorder) very long chain acyl-coenzyme a dehydrogenase deficiency very long chain acyl-coenzyme a dehydrogenase deficiency (disorder) very long-chain acyl coenzyme a dehydrogenase deficiency very long-chain acyl-coa dehydrogenase deficiency very long-chain acyl-coenzyme a dehydrogenase deficiency vlcad - very long chain acyl-coa dehydrogenase deficiency vlcad deficiency vlcad-c vlcad-h |
| Orphanet | |
| OMIM | |
| UMLS | C3887523 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) C0878544 | cardiomyopathy | 2 C0007194 | hypertrophic cardiomyopathy | 1 C0038644 | sudden infant death | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:8) |
| Locus | Symbol | Locus(Total Locus:1) ACADVL | 17p13.1 |
| Disease ID | 1102 |
|---|---|
| Disease | very long chain acyl-coa dehydrogenase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0001252 | Hypotonia HP:0002240 | Enlarged liver HP:0001958 | Nonketotic hypoglycemia HP:0001645 | Sudden cardiac death HP:0008305 | Exercise-induced myoglobinuria HP:0003236 | Elevated creatine kinase HP:0003215 | Dicarboxylic aciduria HP:0003738 | Muscle pain on exercise HP:0001254 | Lethargy HP:0003552 | Muscle stiffness HP:0001324 | Muscular weakness HP:0002789 | Increased respiratory rate or depth of breathing HP:0001397 | Hepatic steatosis HP:0001404 | Hepatocellular necrosis HP:0001639 | Hypertrophic cardiomyopathy HP:0002013 | Emesis HP:0003234 | Decreased plasma carnitine HP:0009045 | Exercise-induced rhabdomyolysis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 1102 |
|---|---|
| Disease | very long chain acyl-coa dehydrogenase deficiency |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:15) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs112406105 | 9973285 | 37 | ACADVL | umls:C3887523 | UNIPROT | Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. | 0.44 | 1999 | ACADVL;MIR324 | 17 | 7223152 | G | A,C |
| rs113994167 | 9973285 | 37 | ACADVL | umls:C3887523 | UNIPROT | Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. | 0.44 | 1999 | ACADVL | 17 | 7222272 | T | C |
| rs113994168 | 9973285 | 37 | ACADVL | umls:C3887523 | UNIPROT | Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. | 0.44 | 1999 | ACADVL | 17 | 7222203 | C | T |
| rs113994170 | 9973285 | 37 | ACADVL | umls:C3887523 | UNIPROT | Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. | 0.44 | 1999 | ACADVL;MIR324 | 17 | 7224040 | C | T |
| rs118204014 | 8554073 | 37 | ACADVL | umls:C3887523 | UNIPROT | Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. | 0.44 | 1996 | ACADVL;DVL2;MIR324 | 17 | 7224966 | C | T |
| rs118204015 | 8554073 | 37 | ACADVL | umls:C3887523 | UNIPROT | Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. | 0.44 | 1996 | ACADVL;MIR324 | 17 | 7223199 | A | C |
| rs118204016 | 9546340 | 37 | ACADVL | umls:C3887523 | UNIPROT | Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. | 0.44 | 1998 | ACADVL;MIR324 | 17 | 7223984 | G | A |
| rs118204017 | 9973285 | 37 | ACADVL | umls:C3887523 | UNIPROT | Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. | 0.44 | 1999 | ACADVL;MIR324 | 17 | 7224007 | T | C |
| rs138058572 | 9973285 | 37 | ACADVL | umls:C3887523 | UNIPROT | Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. | 0.44 | 1999 | ACADVL;MIR324 | 17 | 7223993 | G | A |
| rs140629318 | 9973285 | 37 | ACADVL | umls:C3887523 | UNIPROT | Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. | 0.44 | 1999 | ACADVL;DLG4 | 17 | 7221966 | G | A,C |
| rs148584617 | 9973285 | 37 | ACADVL | umls:C3887523 | UNIPROT | Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. | 0.44 | 1999 | ACADVL;DVL2;MIR324 | 17 | 7224973 | G | A |
| rs200366828 | 9973285 | 37 | ACADVL | umls:C3887523 | UNIPROT | Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. | 0.44 | 1999 | ACADVL;MIR324 | 17 | 7224023 | G | A |
| rs200573371 | 9973285 | 37 | ACADVL | umls:C3887523 | UNIPROT | Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. | 0.44 | 1999 | ACADVL | 17 | 7222669 | G | A |
| rs2230180 | 9973285 | 37 | ACADVL | umls:C3887523 | UNIPROT | Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. | 0.44 | 1999 | ACADVL;MIR324 | 17 | 7224388 | G | A |
| rs2309689 | 9973285 | 37 | ACADVL | umls:C3887523 | UNIPROT | Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. | 0.44 | 1999 | ACADVL;MIR324 | 17 | 7223865 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001958 | Nonketotic hypoglycemia | MP:0000189 | hypoglycemia | low levels of plasma glucose in the circulating blood; this generally refers to a pathological state |
| HP:0003234 | Decreased plasma carnitine | MP:0003978 | decreased circulating carnitine level | lower than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| HP:0003236 | Elevated serum creatine phosphokinase | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0003215 | Dicarboxylic aciduria | MP:0010028 | aciduria | excretion of an acid urine |
| HP:0001404 | Hepatocellular necrosis | MP:0001654 | hepatic necrosis | morphological changes resulting from pathological death of liver tissue; usually due to irreversible damage |
| HP:0001645 | Sudden cardiac death | MP:0012557 | decreased calcium uptake by cardiac muscle | decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease |
Mapped by homologous gene(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003215 | Dicarboxylic aciduria | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0003236 | Elevated serum creatine phosphokinase | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0009045 | Exercise-induced rhabdomyolysis | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001397 | Hepatic steatosis | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001958 | Nonketotic hypoglycemia | MP:0011110 | preweaning lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0002013 | Vomiting | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003738 | Exercise-induced myalgia | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0003234 | Decreased plasma carnitine | MP:0011637 | abnormal mitochondrial matrix morphology | any structural anomaly of the gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion, and contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fat |
| HP:0001254 | Lethargy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001645 | Sudden cardiac death | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0008305 | Exercise-induced myoglobinuria | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0002789 | Tachypnea | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0001404 | Hepatocellular necrosis | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003552 | Muscle stiffness | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| Disease ID | 1102 |
|---|---|
| Disease | very long chain acyl-coa dehydrogenase deficiency |
| Case | (Waiting for update.) |