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: inherited amino acid metabolic disorder (MONDO:0004736)
Parent Node: sulfur metabolism disease (MONDO:0056803)
..Starting node ..inborn disorder of methionine cycle and sulfur amino acid metabolism ()
Child Nodes:
........cystathioninuria (disease) ()
........disorder of methionine catabolism ()
........encephalopathy due to sulfite oxidase deficiency ()
........homocystinuria (disease) ()
........methionine adenosyltransferase deficiency ()
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:	19222
Name:	inborn disorder of methionine cycle and sulfur amino acid metabolism
Definition:	An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cytosolic methyl group transfer or sulfur amino acid metabolism disorder; disorder of methionine cycle and sulfur amino acid metabolism; inborn error of sulfur amino acid metabolic process; inborn sulfur amino acid metabolic process disorder; rare inborn error of sulfur amino acid metabolic process;
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal