MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: disease of catalytic activity (MONDO:0044976)
Parent Node: fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy (MONDO:0016328)
Parent Node: metabolic disease due to other fatty acid oxidation disorder (MONDO:0017717)
..Starting node ..long chain acyl-CoA dehydrogenase deficiency ()
Child Nodes:
........very long chain acyl-CoA dehydrogenase deficiency () L: 00436;
Sister Nodes:
..long chain acyl-CoA dehydrogenase deficiency ()
..malonic aciduria ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20531
Name:	long chain acyl-CoA dehydrogenase deficiency
Definition:	A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	ACADL deficiency; acyl-CoA dehydrogenase, long-chain deficiency; inborn error of long-chain-acyl-CoA dehydrogenase activity; inborn long-chain-acyl-CoA dehydrogenase activity disorder; LCAD; LCAD deficiency; long-chain acyl-CoA dehydrogenase deficiency; long-chain acyl-Coenzyme A dehydrogenase defic
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal