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: inborn mitochondrial metabolism disorder (MONDO:0004069)
Parent Node: inherited fatty acid metabolism disorder (MONDO:0037858)
Parent Node: sulfur metabolism disease (MONDO:0056803)
..Starting node ..inherited lipoic acid biosynthesis defect ()
Child Nodes:
........dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities ()
........fatal multiple mitochondrial dysfunctions syndrome ()
........lipoic acid synthetase deficiency () L: 00479;
........lipoyl transferase 1 deficiency ()
........pyruvate dehydrogenase E3 deficiency ()
........spasticity-ataxia-gait anomalies syndrome ()
Sister Nodes:
..biotin metabolic disease ()
..hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies ()
..inborn disorder of methionine cycle and sulfur amino acid metabolism ()
..inherited glutathione metabolism disease ()
..inherited lipoic acid biosynthesis defect ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18424
Name:	inherited lipoic acid biosynthesis defect
Definition:	An acquired metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	inborn error of lipoate biosynthetic process; inborn lipoate biosynthetic process disorder; lipoate biosynthesis defect; lipoic acid biosynthesis defect; lipoic acid biosynthesis defects; rare inborn error of lipoate biosynthetic process; rare inborn error of lipoate biosynthetic process
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal