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: defective phagocytic cell engulfment (MONDO:0024626)
Parent Node: familial hemolytic anemia (MONDO:0003689)
Parent Node: hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies (MONDO:0020105)
Parent Node: inherited glutathione metabolism disease (MONDO:0040566)
..Starting node ..inherited glutathione synthetase deficiency ()
Child Nodes:
........glutathione synthetase deficiency with 5-oxoprolinuria ()
........glutathione synthetase deficiency without 5-oxoprolinuria ()
Sister Nodes:
..gamma-glutamylcysteine synthetase 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:	17909
Name:	inherited glutathione synthetase deficiency
Definition:	Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.
Alternative IDs:
ParentIDs:
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Synonyms:	5-oxoprolinuria; glutathione synthetase deficiency; glutathione synthetase deficiency; GSSD; inborn error of glutathione synthase activity; inborn glutathione synthase activity disorder; oxoprolinase deficiency; pyroglutamic aciduria; pyroglutamicaciduria; rare inborn error of glutathione synthase a
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal