MCID: DSR074
MIFTS: 29

Disorder of Purine Metabolism

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Disorder of Purine Metabolism

MalaCards integrated aliases for Disorder of Purine Metabolism:

Name: Disorder of Purine Metabolism 58
Purine Metabolism Disorder 54

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

UMLS via Orphanet 72 C0268104
Orphanet 58 ORPHA79191

Summaries for Disorder of Purine Metabolism

MalaCards based summary : Disorder of Purine Metabolism, also known as purine metabolism disorder, is related to lesch-nyhan syndrome and adenine phosphoribosyltransferase deficiency. An important gene associated with Disorder of Purine Metabolism is AMPD3 (Adenosine Monophosphate Deaminase 3), and among its related pathways/superpathways are Metabolism of nucleotides and purine nucleotides de novo biosynthesis. The drugs Allopurinol and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and lung, and related phenotypes are hematopoietic system and immune system

Wikipedia : 74 Purine metabolism refers to the metabolic pathways to synthesize and break down purines that are present... more...

Related Diseases for Disorder of Purine Metabolism

Diseases related to Disorder of Purine Metabolism via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 lesch-nyhan syndrome 31.5 HPRT1 APRT
2 adenine phosphoribosyltransferase deficiency 31.3 HPRT1 APRT
3 gout 29.1 HPRT1 APRT
4 nephrolithiasis, calcium oxalate 28.8 HPRT1 APRT
5 xanthinuria, type i 11.6
6 phosphoribosylpyrophosphate synthetase superactivity 11.6
7 xanthinuria, type ii 11.2
8 hyperuricemia 10.2
9 xanthinuria 10.0
10 cerebral palsy 10.0
11 hereditary xanthinuria 10.0
12 hypouricemia, renal, 1 9.9
13 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase 9.9
14 body mass index quantitative trait locus 11 9.9
15 ataxia and polyneuropathy, adult-onset 9.9
16 body mass index quantitative trait locus 9 9.9
17 body mass index quantitative trait locus 8 9.9
18 body mass index quantitative trait locus 4 9.9
19 body mass index quantitative trait locus 10 9.9
20 body mass index quantitative trait locus 7 9.9
21 body mass index quantitative trait locus 12 9.9
22 body mass index quantitative trait locus 14 9.9
23 body mass index quantitative trait locus 18 9.9
24 body mass index quantitative trait locus 19 9.9
25 body mass index quantitative trait locus 20 9.9
26 megaloblastic anemia 9.9
27 toxic shock syndrome 9.9
28 hyperinsulinism 9.9
29 acute kidney failure 9.9
30 peritonitis 9.9
31 athetosis 9.9
32 encephalopathy 9.9
33 spinocerebellar degeneration 9.9
34 neuroblastoma 9.9
35 kelley-seegmiller syndrome 9.5 HPRT1 APRT
36 purine-pyrimidine metabolic disorder 9.5 HPRT1 APRT
37 lynch syndrome 9.2 HPRT1 APRT
38 purine nucleoside phosphorylase deficiency 9.1 HPRT1 APRT ADA

Graphical network of the top 20 diseases related to Disorder of Purine Metabolism:



Diseases related to Disorder of Purine Metabolism

Symptoms & Phenotypes for Disorder of Purine Metabolism

MGI Mouse Phenotypes related to Disorder of Purine Metabolism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.56 ADA AMPD3 APRT HPRT1
2 immune system MP:0005387 9.46 ADA AMPD3 APRT HPRT1
3 renal/urinary system MP:0005367 9.13 ADA APRT HPRT1
4 respiratory system MP:0005388 8.8 ADA AMPD3 HPRT1

Drugs & Therapeutics for Disorder of Purine Metabolism

Drugs for Disorder of Purine Metabolism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Allopurinol Approved Phase 2 315-30-0 2094
2 Antioxidants Phase 2
3 Free Radical Scavengers Phase 2
4 Antirheumatic Agents Phase 2
5 Protective Agents Phase 2
6 Antimetabolites Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Trial of Kuvan™ (Sapropterin) Treatment in Patients With Lesch Nyhan Disease Withdrawn NCT00935753 Phase 2, Phase 3 sapropterin
2 Evaluation of a Treatment With Allopurinol on Autistic Disorders and Epilepsy in Adenylosuccinate Lyase Deficiency (ADSL) Not yet recruiting NCT03776656 Phase 2 Allopurinol

Search NIH Clinical Center for Disorder of Purine Metabolism

Genetic Tests for Disorder of Purine Metabolism

Anatomical Context for Disorder of Purine Metabolism

MalaCards organs/tissues related to Disorder of Purine Metabolism:

40
Kidney, Brain, Lung

Publications for Disorder of Purine Metabolism

Articles related to Disorder of Purine Metabolism:

(show top 50) (show all 83)
# Title Authors PMID Year
1
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. 54 61
2018042 1991
2
Gout. 61
31558729 2019
3
Prevalence of Hyperuricemia and its Correlation with Serum Lipids and Blood Glucose in Physical Examination Population in 2015 - 2018: a Retrospective Study. 61
31414762 2019
4
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency. 61
31182398 2019
5
Long-term renal outcomes of APRT deficiency presenting in childhood. 61
30443743 2019
6
[Efficiency estimation of diet therapy with protein component modification in patients with obesity and purine metabolism disorder]. 61
31860203 2019
7
50 Years Ago in The Journal Of Pediatrics: A New Disorder of Purine Metabolism with Behavioral Manifestations. 61
30579478 2019
8
Xanthoma Combined With Gout Infiltration of the Achilles Tendon: A Case Report. 61
31384134 2019
9
Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine. 61
29502913 2018
10
Hereditary xanthinuria is not so rare disorder of purine metabolism. 61
29723117 2018
11
Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease. 61
29185864 2017
12
Multiple Asymptomatic Juxta-Articular Nodules Mimicking Tuberous-Xanthoma-A Unusual Presentation of Tophaceous Gout. 61
29491659 2017
13
Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene. 61
28524722 2017
14
Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein. 61
28045594 2017
15
Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior. 61
28357186 2017
16
The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease. 61
27295197 2017
17
[The detection of proteomic markers and immunologic profile and their relationship with metabolic parameters in patients with gout.] 61
30802396 2017
18
Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature. 61
27858372 2017
19
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome. 61
27379977 2016
20
Towards rational drug treatment of Lesch-Nyhan disease. 61
27216368 2016
21
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency. 61
26724837 2016
22
Treatment and prevention of gout. 61
26164859 2015
23
Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome. 61
25875700 2015
24
Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis. 61
25476133 2015
25
Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants. 61
25503620 2015
26
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene. 61
25965333 2015
27
Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome. 61
24680827 2014
28
Uric acid induces oxidative stress and growth inhibition by activating adenosine monophosphate-activated protein kinase and extracellular signal-regulated kinase signal pathways in pancreatic β cells. 61
23707617 2013
29
Safety of urate-lowering therapies: managing the risks to gain the benefits. 61
23137576 2012
30
The rheumatology of gout. 61
23089276 2012
31
Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency. 61
22350222 2012
32
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. 61
21625931 2012
33
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi. 61
22821105 2012
34
An HPLC-based assay of adenylosuccinate lyase in erythrocytes. 61
22060555 2011
35
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome. 61
21331772 2011
36
Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient. 61
20077140 2010
37
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. 61
20933180 2010
38
How I treat ADA deficiency. 61
19638621 2009
39
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 61
19179314 2009
40
Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID). 61
19707420 2009
41
[Peculiarities of uric acid balance disorders in patients with type 2 diabetes and metabolic syndrome]. 61
19526867 2009
42
Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks. 61
18528895 2008
43
[Kelley-Seegmiller syndrome]. 61
17687757 2008
44
[Recurrent urinary lithiasis revealing hereditary xanthinuria]. 61
17482421 2007
45
Xanthinuria type I: a rare cause of urolithiasis. 61
17115198 2007
46
A preventive approach to oral self-mutilation in Lesch-Nyhan syndrome: a case report. 61
16903443 2006
47
Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients. 54
17065067 2006
48
[Disorder of purine metabolism]. 61
15206151 2004
49
Case report: the Lesch-Nyhan syndrome. 61
15202925 2004
50
Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman. 61
12847698 2003

Variations for Disorder of Purine Metabolism

Expression for Disorder of Purine Metabolism

Search GEO for disease gene expression data for Disorder of Purine Metabolism.

Pathways for Disorder of Purine Metabolism

Pathways related to Disorder of Purine Metabolism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.93 HPRT1 APRT AMPD3 ADA
2
Show member pathways
11.44 HPRT1 APRT ADA
3 10.85 HPRT1 APRT AMPD3 ADA

GO Terms for Disorder of Purine Metabolism

Cellular components related to Disorder of Purine Metabolism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 secretory granule lumen GO:0034774 8.62 APRT AMPD3

Biological processes related to Disorder of Purine Metabolism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide metabolic process GO:0009117 9.48 AMPD3 ADA
2 nucleoside metabolic process GO:0009116 9.46 HPRT1 APRT
3 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.43 AMPD3 ADA
4 grooming behavior GO:0007625 9.4 HPRT1 APRT
5 purine ribonucleoside salvage GO:0006166 9.37 HPRT1 APRT
6 IMP salvage GO:0032264 9.32 HPRT1 AMPD3
7 adenine metabolic process GO:0046083 9.26 HPRT1 APRT
8 hypoxanthine salvage GO:0043103 9.16 HPRT1 ADA
9 adenine salvage GO:0006168 8.96 HPRT1 APRT
10 purine-containing compound salvage GO:0043101 8.92 HPRT1 APRT AMPD3 ADA

Molecular functions related to Disorder of Purine Metabolism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.96 HPRT1 APRT
2 deaminase activity GO:0019239 8.62 AMPD3 ADA

Sources for Disorder of Purine Metabolism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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