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: hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies (MONDO:0020105)
..Starting node ..hemolytic anemia due to glutathione reductase deficiency ()
Child Nodes:
Sister Nodes:
..6-phosphogluconate dehydrogenase deficiency ()
..gamma-glutamylcysteine synthetase deficiency ()
..hemolytic anemia due to glutathione reductase deficiency ()
..inherited glutathione synthetase deficiency ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19531
Name:	hemolytic anemia due to glutathione reductase deficiency
Definition:	Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal