MCID: DSR074
MIFTS: 30

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 59
Purine Metabolism Disorder 55

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

UMLS via Orphanet 73 C0268104
Orphanet 59 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 and purine nucleotides de novo biosynthesis. The drugs Allopurinol and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and lung, and related phenotypes are growth/size/body region and hematopoietic system

Wikipedia : 75 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 31.3 HPRT1 APRT
2 adenine phosphoribosyltransferase deficiency 31.0 HPRT1 APRT
3 gout 29.1 HPRT1 APRT
4 xanthinuria 28.7 HPRT1 APRT
5 xanthinuria, type i 11.6
6 xanthinuria, type ii 11.2
7 hyperuricemia 10.2
8 cerebral palsy 10.0
9 hereditary xanthinuria 10.0
10 nephrolithiasis, calcium oxalate 9.9
11 hypouricemia, renal, 1 9.9
12 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase 9.9
13 body mass index quantitative trait locus 11 9.9
14 phosphoribosylpyrophosphate synthetase superactivity 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 1 9.8
35 molybdenum cofactor deficiency, complementation group a 9.7 APRT ADA
36 purine nucleoside phosphorylase deficiency 9.6 HPRT1 ADA
37 kelley-seegmiller syndrome 9.5 HPRT1 APRT
38 purine-pyrimidine metabolic disorder 9.5 HPRT1 APRT

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.62 ADA AMPD3 APRT HPRT1
2 hematopoietic system MP:0005397 9.56 ADA AMPD3 APRT HPRT1
3 immune system MP:0005387 9.46 ADA AMPD3 APRT HPRT1
4 renal/urinary system MP:0005367 9.13 ADA APRT HPRT1
5 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 Protective Agents Phase 2
5 Antirheumatic 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:

41
Brain, Kidney, Lung

Publications for Disorder of Purine Metabolism

Articles related to Disorder of Purine Metabolism:

(show top 50) (show all 81)
# Title Authors PMID Year
1
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. 9 38
2018042 1991
2
Prevalence of Hyperuricemia and its Correlation with Serum Lipids and Blood Glucose in Physical Examination Population in 2015 - 2018: a Retrospective Study. 38
31414762 2019
3
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency. 38
31182398 2019
4
Long-term renal outcomes of APRT deficiency presenting in childhood. 38
30443743 2019
5
Xanthoma Combined With Gout Infiltration of the Achilles Tendon: A Case Report. 38
31384134 2019
6
50 Years Ago in The Journal Of Pediatrics: A New Disorder of Purine Metabolism with Behavioral Manifestations. 38
30579478 2019
7
Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine. 38
29502913 2018
8
Hereditary xanthinuria is not so rare disorder of purine metabolism. 38
29723117 2018
9
Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease. 38
29185864 2017
10
Multiple Asymptomatic Juxta-Articular Nodules Mimicking Tuberous-Xanthoma-A Unusual Presentation of Tophaceous Gout. 38
29491659 2017
11
Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene. 38
28524722 2017
12
Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein. 38
28045594 2017
13
Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior. 38
28357186 2017
14
[The detection of proteomic markers and immunologic profile and their relationship with metabolic parameters in patients with gout.] 38
30802396 2017
15
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. 38
27858372 2017
16
The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease. 38
27295197 2017
17
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome. 38
27379977 2016
18
Towards rational drug treatment of Lesch-Nyhan disease. 38
27216368 2016
19
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency. 38
26724837 2016
20
Treatment and prevention of gout. 38
26164859 2015
21
Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome. 38
25875700 2015
22
Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis. 38
25476133 2015
23
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene. 38
25965333 2015
24
Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants. 38
25503620 2015
25
Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome. 38
24680827 2014
26
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. 38
23707617 2013
27
Safety of urate-lowering therapies: managing the risks to gain the benefits. 38
23137576 2012
28
The rheumatology of gout. 38
23089276 2012
29
Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency. 38
22350222 2012
30
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. 38
21625931 2012
31
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi. 38
22821105 2012
32
An HPLC-based assay of adenylosuccinate lyase in erythrocytes. 38
22060555 2011
33
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome. 38
21331772 2011
34
Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient. 38
20077140 2010
35
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. 38
20933180 2010
36
How I treat ADA deficiency. 38
19638621 2009
37
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 38
19179314 2009
38
Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID). 38
19707420 2009
39
[Peculiarities of uric acid balance disorders in patients with type 2 diabetes and metabolic syndrome]. 38
19526867 2009
40
Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks. 38
18528895 2008
41
[Kelley-Seegmiller syndrome]. 38
17687757 2008
42
[Recurrent urinary lithiasis revealing hereditary xanthinuria]. 38
17482421 2007
43
Xanthinuria type I: a rare cause of urolithiasis. 38
17115198 2007
44
A preventive approach to oral self-mutilation in Lesch-Nyhan syndrome: a case report. 38
16903443 2006
45
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. 9
17065067 2006
46
Case report: the Lesch-Nyhan syndrome. 38
15202925 2004
47
[Disorder of purine metabolism]. 38
15206151 2004
48
Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman. 38
12847698 2003
49
[Treatment of Lesch-Nyhan syndrome]. 38
12436387 2002
50
Purine composition of the crystalline cytoplasmic inclusions of Paramecium tetraurelia. 38
12022274 2002

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
12.9 HPRT1 APRT AMPD3 ADA
2
Show member pathways
10.91 HPRT1 APRT 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 hypoxanthine salvage GO:0043103 9.26 HPRT1 ADA
8 adenine salvage GO:0006168 9.16 HPRT1 APRT
9 adenine metabolic process GO:0046083 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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