MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: disease of catalytic activity (MONDO:0044976)
Parent Node: inborn carbohydrate metabolic disorder (MONDO:0019214)
..Starting node ..glucosephosphate dehydrogenase deficiency ()
Child Nodes:
........class V glucose-6-phosphate dehydrogenase deficiency ()
........favism ()
Sister Nodes:
..congenital disorder of glycosylation ()
..disorder of carbohydrate absorption and transport ()
..disorder of fructose metabolism ()
..disorder of galactose metabolism ()
..disorder of glycolysis ()
..disorder of glyoxylate metabolism ()
..disorders of pentose/polyol metabolism ()
..gluconeogenesis disorder ()
..glucosephosphate dehydrogenase deficiency ()
..GLUT1 deficiency syndrome ()
..glycogen storage disease ()
..hyperinsulinemic hypoglycemia (disease) ()
..inborn disorder of glycerol metabolism ()
..lactose intolerance (disease) ()
..mucopolysaccharidosis ()
..multiple carboxylase deficiency ()
..NGLY1-deficiency ()
..oligosaccharidosis ()
..pyruvate dehydrogenase deficiency ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5775
Name:	glucosephosphate dehydrogenase deficiency
Definition:	An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	deficiency of G-6PD; G-6-PD variant enzyme deficiency Anemia; G6PD; G6PD deficiency; glucose-6-phosphate dehydrogenase deficiency; inborn error of glucose-6-phosphate dehydrogenase activity; inborn glucose-6-phosphate dehydrogenase activity disorder; rare inborn error of glucose-6-phosphate dehydrog
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal