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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

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Disease Browser
Parent Node: Purine-Pyrimidine Metabolism, Inborn Errors (D011686)
..Starting node ..Phosphoribosylpyrophosphate Synthetase Superactivity (C567064)
Child Nodes:
Sister Nodes:
..Adenosine monophosphate deaminase deficiency (C538234)
..Adenylosuccinate lyase deficiency (C538235)
..Beta-Ureidopropionase Deficiency (C563210)
..Dihydropyrimidine Dehydrogenase Deficiency (D054067) 1
..Gout (D006073) 6
..Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase (C565489)
..Lesch-Nyhan Syndrome (D007926) 1
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Orotic Aciduria II (C562589)
..Oroticaciduria 1 (C537136)
..Phosphoribosylpyrophosphate synthetase deficiency (C537897)
..Phosphoribosylpyrophosphate Synthetase Superactivity (C567064)
..Pseudouridinuria and Mental Defect (C564864)
..Purine Nucleoside Phosphorylase Deficiency (C562587)
..Thiopurine S methyltranferase deficiency (C536512)
..Xanthinuria, Type II (C566358)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8909

Name:

Phosphoribosylpyrophosphate Synthetase Superactivity

Definition:

Alternative IDs:

OMIM:300661

ParentIDs:

MESH:D011686

TreeNumbers:

C16.320.565.798/C567064 |C18.452.648.798/C567064

Synonyms:

Gout, PRPS-Related |PRPS1 SUPERACTIVITY GOUT, PRPS-RELATED, INCLUDED

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C567064
MeSH: C567064
OMIM: 300661;

Genes: PRPS1;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0001251	Ataxia
3	HP:0001290	Generalized hypotonia
4	HP:0001997	Gout
5	HP:0003149	Hyperuricosuria
6	HP:0001252	Hypotonia
7	HP:0001249	Intellectual disability
8	HP:0001270	Motor delay
9	HP:0000083	Renal insufficiency
10	HP:0000407	Sensorineural hearing impairment
11	HP:0000791	Uric acid nephrolithiasis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_002764.3(PRPS1):c.154G>C (p.Asp52His)	5631	PRPS1	Pathogenic	137852542	RCV000010608;	N	MedGen:C1970827,OMIM:300661,ORPHA:3222	X	106882556	106882556	NM_002764.3:c.154G>C	NP_002755.1:p.Asp52His	NC_000023.10:g.106882556G>C	OMIM Allelic Variant:311850.0003	C1970827 300661 Phosphoribosylpyrophosphate synthetase superactivity
NM_002764.3(PRPS1):c.341A>G (p.Asn114Ser)	5631	PRPS1	Pathogenic	137852540	RCV000010606;	N	MedGen:C1970827,OMIM:300661,ORPHA:3222	X	106884166	106884166	NM_002764.3:c.341A>G	NP_002755.1:p.Asn114Ser	NC_000023.10:g.106884166A>G	OMIM Allelic Variant:311850.0001	C1970827 300661 Phosphoribosylpyrophosphate synthetase superactivity
NM_002764.3(PRPS1):c.385C>A (p.Leu129Ile)	5631	PRPS1	Pathogenic	137852543	RCV000010609;	N	MedGen:C1970827,OMIM:300661,ORPHA:3222	X	106884210	106884210	NM_002764.3:c.385C>A	NP_002755.1:p.Leu129Ile	NC_000023.10:g.106884210C>A	OMIM Allelic Variant:311850.0005	C1970827 300661 Phosphoribosylpyrophosphate synthetase superactivity
NM_002764.3(PRPS1):c.547G>C (p.Asp183His)	5631	PRPS1	Pathogenic	137852541	RCV000010607;	N	MedGen:C1970827,OMIM:300661,ORPHA:3222	X	106888423	106888423	NM_002764.3:c.547G>C	NP_002755.1:p.Asp183His	NC_000023.10:g.106888423G>C	OMIM Allelic Variant:311850.0002	C1970827 300661 Phosphoribosylpyrophosphate synthetase superactivity
NM_002764.3(PRPS1):c.569C>T (p.Ala190Val)	5631	PRPS1	Pathogenic	137852544	RCV000010610;	N	MedGen:C1970827,OMIM:300661,ORPHA:3222	X	106888445	106888445	NM_002764.3:c.569C>T	NP_002755.1:p.Ala190Val	NC_000023.10:g.106888445C>T	OMIM Allelic Variant:311850.0007	C1970827 300661 Phosphoribosylpyrophosphate synthetase superactivity
NM_002764.3(PRPS1):c.579C>G (p.His193Gln)	5631	PRPS1	Pathogenic	137852545	RCV000010611;	N	MedGen:C1970827,OMIM:300661,ORPHA:3222	X	106888455	106888455	NM_002764.3:c.579C>G	NP_002755.1:p.His193Gln	NC_000023.10:g.106888455C>G	OMIM Allelic Variant:311850.0008	C1970827 300661 Phosphoribosylpyrophosphate synthetase superactivity