MCID: DSR074
MIFTS: 24

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 71 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 adenine phosphoribosyltransferase deficiency and phosphoribosylpyrophosphate synthetase superactivity. 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. Affiliated tissues include kidney, and related phenotypes are hematopoietic system and immune system

Wikipedia : 73 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 31)
# Related Disease Score Top Affiliating Genes
1 adenine phosphoribosyltransferase deficiency 31.4 HPRT1 APRT
2 phosphoribosylpyrophosphate synthetase superactivity 31.3 HPRT1 APRT
3 lesch-nyhan syndrome 30.9 HPRT1 APRT ADA
4 urolithiasis 29.4 HPRT1 APRT
5 xanthinuria, type i 11.2
6 xanthinuria, type ii 11.1
7 hypouricemia, renal, 1 10.0
8 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase 10.0
9 xanthinuria 10.0
10 megaloblastic anemia 10.0
11 hyperuricemia 10.0
12 hyperinsulinism 10.0
13 acute kidney failure 10.0
14 hereditary xanthinuria 10.0
15 body mass index quantitative trait locus 11 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 athetosis 9.9
26 hyperuricemia, hprt-related 9.7 HPRT1 APRT
27 arts syndrome 9.6 HPRT1 APRT
28 purine-pyrimidine metabolic disorder 9.6 HPRT1 APRT
29 gout 9.5 HPRT1 APRT
30 purine nucleoside phosphorylase deficiency 9.4 HPRT1 APRT ADA
31 nephrolithiasis 9.4 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 hematopoietic system MP:0005397 9.26 ADA AMPD3 APRT HPRT1
2 immune system MP:0005387 8.92 ADA AMPD3 APRT HPRT1

Drugs & Therapeutics for Disorder of Purine Metabolism

Search Clinical Trials , 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

Publications for Disorder of Purine Metabolism

Articles related to Disorder of Purine Metabolism:

(show top 50) (show all 93)
# Title Authors PMID Year
1
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. 61 54
2018042 1991
2
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency. 61
33707627 2021
3
ADSL Deficiency - The Lesser-Known Metabolic Epilepsy in Infancy. 61
32681428 2021
4
Metabolic Profile Reveals the Immunosuppressive Mechanisms of Methionyl-Methionine in Lipopolysaccharide-Induced Inflammation in Bovine Mammary Epithelial Cell. 61
33809487 2021
5
High uric acid promotes dysfunction in pancreatic β cells by blocking IRS2/AKT signalling. 61
33127482 2021
6
Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency. 61
32890691 2020
7
Fortuitous Discovery of Hereditary Xanthinuria. 61
33073950 2020
8
Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype. 61
32405461 2020
9
Tophaceous gout in thoracic spine mimicking meningioma: A case report and literature review. 61
33194297 2020
10
Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP). 61
32312153 2020
11
Gout. 61
31558729 2019
12
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
13
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency. 61
31182398 2019
14
Long-term renal outcomes of APRT deficiency presenting in childhood. 61
30443743 2019
15
[Efficiency estimation of diet therapy with protein component modification in patients with obesity and purine metabolism disorder]. 61
31860203 2019
16
Xanthoma Combined With Gout Infiltration of the Achilles Tendon: A Case Report. 61
31384134 2019
17
50 Years Ago in The Journal Of Pediatrics: A New Disorder of Purine Metabolism with Behavioral Manifestations. 61
30579478 2019
18
Pegloticase Induced Hemolytic Anemia in a Patient With G6PD Deficiency. 61
32300419 2018
19
Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine. 61
29502913 2018
20
Hereditary xanthinuria is not so rare disorder of purine metabolism. 61
29723117 2018
21
Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease. 61
29185864 2017
22
Multiple Asymptomatic Juxta-Articular Nodules Mimicking Tuberous-Xanthoma-A Unusual Presentation of Tophaceous Gout. 61
29491659 2017
23
Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene. 61
28524722 2017
24
Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior. 61
28357186 2017
25
Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein. 61
28045594 2017
26
[The detection of proteomic markers and immunologic profile and their relationship with metabolic parameters in patients with gout.] 61
30802396 2017
27
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
28
The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease. 61
27295197 2017
29
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome. 61
27379977 2016
30
Towards rational drug treatment of Lesch-Nyhan disease. 61
27216368 2016
31
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency. 61
26724837 2016
32
Treatment and prevention of gout. 61
26164859 2015
33
Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome. 61
25875700 2015
34
Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis. 61
25476133 2015
35
Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene. 61
25965333 2015
36
Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants. 61
25503620 2015
37
Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome. 61
24680827 2014
38
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
39
Safety of urate-lowering therapies: managing the risks to gain the benefits. 61
23137576 2012
40
The rheumatology of gout. 61
23089276 2012
41
Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency. 61
22350222 2012
42
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. 61
21625931 2012
43
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi. 61
22821105 2012
44
An HPLC-based assay of adenylosuccinate lyase in erythrocytes. 61
22060555 2011
45
Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome. 61
21331772 2011
46
Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient. 61
20077140 2010
47
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. 61
20933180 2010
48
How I treat ADA deficiency. 61
19638621 2009
49
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 61
19179314 2009
50
Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID). 61
19707420 2009

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

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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