Purine metabolism and related disorders

No Pathway Network information available for Purine metabolism and related disorders

Pathways in the Purine metabolism and related disorders SuperPath

#	Name	Source	Genes
1	Purine metabolism and related disorders	WikiPathways	ADA ADSL ADSS2 AMPD1 AOX1 APRT ATIC DGUOK GART GRM5 HPRT1 IMPDH1 ITPA MAT2A MOCOS PAICS PFAS PNP PPAT PRPS1 RRM2B TPMT XDH (see all 23) (see less)
2	Purine metabolism	WikiPathways	ADA ADSL ADSS2 AMPD1 APRT ATIC DGUOK HPRT1 IMPDH1 ITPA PNP PRPS1 XDH (see all 13) (see less)

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	ADSS2	Adenylosuccinate Synthase 2	Protein Coding	2
2	ITPA	Inosine Triphosphatase	Protein Coding	2
3	DGUOK	Deoxyguanosine Kinase	Protein Coding	2
4	AMPD1	Adenosine Monophosphate Deaminase 1	Protein Coding	2
5	HPRT1	Hypoxanthine Phosphoribosyltransferase 1	Protein Coding	2
6	APRT	Adenine Phosphoribosyltransferase	Protein Coding	2
7	ADSL	Adenylosuccinate Lyase	Protein Coding	2
8	IMPDH1	Inosine Monophosphate Dehydrogenase 1	Protein Coding	2
9	PRPS1	Phosphoribosyl Pyrophosphate Synthetase 1	Protein Coding	2
10	PNP	Purine Nucleoside Phosphorylase	Protein Coding	2
11	XDH	Xanthine Dehydrogenase	Protein Coding	2
12	ADA	Adenosine Deaminase	Protein Coding	2
13	ATIC	5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase	Protein Coding	2
14	GRM5	Glutamate Metabotropic Receptor 5	Protein Coding	1
15	AOX1	Aldehyde Oxidase 1	Protein Coding	1
16	TPMT	Thiopurine S-Methyltransferase	Protein Coding	1
17	MOCOS	Molybdenum Cofactor Sulfurase	Protein Coding	1
18	RRM2B	Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B	Protein Coding	1
19	PAICS	Phosphoribosylaminoimidazole Carboxylase And Phosphoribosylaminoimidazolesuccinocarboxamide Synthase	Protein Coding	1
20	PPAT	Phosphoribosyl Pyrophosphate Amidotransferase	Protein Coding	1
21	PFAS	Phosphoribosylformylglycinamidine Synthase	Protein Coding	1
22	GART	Phosphoribosylglycinamide Formyltransferase, Phosphoribosylglycinamide Synthetase, Phosphoribosylaminoimidazole Synthetase	Protein Coding	1
23	MAT2A	Methionine Adenosyltransferase 2A	Protein Coding	1

Disorders associated with Purine metabolism and related disorders SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Xanthinuria, type ii	Enrichment	MOCOS, XDH	5.08
2	Severe combined immunodeficiency	Enrichment	ADA, PNP	3.36
3	Charcot-marie-tooth disease, x-linked recessive, 5	Enrichment	PRPS1	3.02
4	Arts syndrome	Enrichment	PRPS1	3.02
5	Aica-ribosiduria due to atic deficiency	Enrichment	ATIC	3.02
6	Adenylosuccinase deficiency	Enrichment	ADSL	3.02
7	Retinitis pigmentosa 10	Enrichment	IMPDH1	3.02
8	Phosphoribosylpyrophosphate synthetase superactivity	Enrichment	PRPS1	3.02
9	Deafness, x-linked 1	Enrichment	PRPS1	3.02
10	Leber congenital amaurosis 11	Enrichment	IMPDH1	3.02
11	Purine nucleoside phosphorylase deficiency	Enrichment	PNP	3.02
12	Myopathy due to myoadenylate deaminase deficiency	Enrichment	AMPD1	3.02
13	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	Enrichment	PRPS1	3.02
14	Thiopurines, poor metabolism of, 1	Enrichment	TPMT	2.77
15	Mitochondrial dna depletion syndrome 8b	Enrichment	RRM2B	2.77
16	Rrm2b mitochondrial dna maintenance defects	Enrichment	RRM2B	2.77
17	Xanthinuria, type i	Enrichment	XDH	2.72
18	Adenine phosphoribosyltransferase deficiency	Enrichment	APRT	2.72
19	Inosine triphosphatase deficiency	Enrichment	ITPA	2.72
20	Developmental and epileptic encephalopathy 35	Enrichment	ITPA	2.72
21	Adenosine monophosphate deaminase deficiency	Enrichment	AMPD1	2.72
22	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency	Enrichment	ADA	2.54
23	Lesch-nyhan syndrome	Enrichment	HPRT1	2.54
24	Glomerulopathy with fibronectin deposits 2	Enrichment	ATIC	2.54
25	Hyperuricemia, hprt-related	Enrichment	HPRT1	2.54
26	Mitochondrial dna depletion syndrome 3	Enrichment	DGUOK	2.54
27	Portal hypertension, noncirrhotic, 1	Enrichment	DGUOK	2.54
28	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4	Enrichment	DGUOK	2.54
29	Fanconi renotubular syndrome 1	Enrichment	RRM2B	2.47
30	Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction	Enrichment	RRM2B	2.47
31	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5	Enrichment	RRM2B	2.47
32	Mitochondrial dna depletion syndrome 8a	Enrichment	RRM2B	2.47
33	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2	Enrichment	RRM2B	2.47
34	Phosphoribosylaminoimidazole carboxylase deficiency	Enrichment	PAICS	2.47
35	Portal hypertension	Enrichment	DGUOK	2.42
36	Adenosine deaminase deficiency	Enrichment	ADA	2.42
37	Rare x-linked non-syndromic sensorineural deafness type dfn	Enrichment	PRPS1	2.42
38	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	Enrichment	ADA	2.32
39	Cerebroretinal microangiopathy with calcifications and cysts 1	Enrichment	PFAS	2.29
40	Idiopathic camptocormia	Enrichment	RRM2B	2.29
41	Early myoclonic encephalopathy	Enrichment	ADSL	2.24
42	Kearns-sayre syndrome	Enrichment	RRM2B	2.07
43	Tooth agenesis, selective, 1	Enrichment	ITPA	2.07
44	Omenn syndrome	Enrichment	ADA	2.02
45	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1	Enrichment	RRM2B	1.99
46	Mitochondrial neurogastrointestinal encephalomyopathy	Enrichment	RRM2B	1.82
47	Isolated tracheo-esophageal fistula	Enrichment	GART	1.77
48	Tooth agenesis	Enrichment	ITPA	1.68
49	Developmental and epileptic encephalopathy 1	Enrichment	ITPA	1.63
50	Hereditary retinal dystrophy	Enrichment	IMPDH1, PRPS1	1.52
51	Fundus dystrophy	Enrichment	IMPDH1, PRPS1	1.52
52	Esophageal atresia/tracheoesophageal fistula	Enrichment	GART	1.50
53	Dyskeratosis congenita	Enrichment	PFAS	1.50
54	Developmental and epileptic encephalopathy	Enrichment	ITPA	1.47
55	Nephrotic syndrome	Enrichment	ATIC	1.39
56	Retinitis pigmentosa	Enrichment	IMPDH1, RRM2B	1.30
57	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	MAT2A	1.14
58	Sensorineural hearing loss	Enrichment	RRM2B	1.11
59	Leber plus disease	Enrichment	IMPDH1	1.06
60	Mitochondrial disease	Enrichment	RRM2B	0.86
61	Autism spectrum disorder	Enrichment	MOCOS	0.77

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Purine metabolism and related disorders

Pathway Network for Purine metabolism and related disorders

Member Pathways for Purine metabolism and related disorders

Pathways in the Purine metabolism and related disorders SuperPath

Associated Genes for Purine metabolism and related disorders

Associated Disorders for Purine metabolism and related disorders

Disorders associated with Purine metabolism and related disorders SuperPath

STRING Interaction Network for Purine metabolism and related disorders

Sources for Purine metabolism and related disorders