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 purine metabolism (MONDO:0019236)
Parent Node: nephropathy secondary to a storage or other metabolic disease (MONDO:0019743)
Parent Node: syndromic neurometabolic disease with X-linked intellectual disability (MONDO:0015920)
Parent Node: vitamin B12- and folate-independent constitutional megaloblastic anemia (MONDO:0020112)
..Starting node ..hypoxanthine-guanine phosphoribosyltransferase deficiency ()
Child Nodes:
........hypoxanthine guanine phosphoribosyltransferase partial deficiency ()
........Lesch-Nyhan syndrome ()
Sister Nodes:
..hypoxanthine-guanine phosphoribosyltransferase deficiency ()
..orotic aciduria ()
..thiamine-responsive megaloblastic anemia syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16088
Name:	hypoxanthine-guanine phosphoribosyltransferase deficiency
Definition:	Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	HPRT deficiency; HPRT1 deficiency; hypoxanthine-guanine phosphoribosyltransferase 1 deficiency
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal