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 disorder of aspartate family metabolism (MONDO:0037938)
Parent Node: inborn disorder of methionine cycle and sulfur amino acid metabolism (MONDO:0019222)
..Starting node ..disorder of methionine catabolism ()
Child Nodes:
........glycine N-methyltransferase deficiency ()
........hypermethioninemia due to adenosine kinase deficiency ()
........hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ()
Sister Nodes:
..cystathioninuria (disease) ()
..disorder of methionine catabolism ()
..encephalopathy due to sulfite oxidase deficiency ()
..homocystinuria (disease) ()
..methionine adenosyltransferase deficiency ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	351
Name:	disorder of methionine catabolism
Definition:	An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	hypermethioninemia; inborn error of methionine catabolic process; inborn methionine catabolic process disorder; rare inborn error of methionine catabolic process; rare inborn error of methionine catabolic process
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: BLNK;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal