MCID: NPH078
MIFTS: 29

Nephrolithiasis, Uric Acid

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Nephrolithiasis, Uric Acid

MalaCards integrated aliases for Nephrolithiasis, Uric Acid:

Name: Nephrolithiasis, Uric Acid 57
Nephrolithiasis, Uric Acid, Susceptibility to 57 13 40
Uric Acid Nephrolithiasis, Susceptibility to 29 6
Uric Acid Nephrolithiasis 75 55
Uric Acid Urolithiasis 75 73
Uan 57 75
Urolithiasis, Uric Acid, Susceptibility to 57
Uric Acid Renal Calculus 73
Urolithiasis, Uric Acid 57

Classifications:



External Ids:

OMIM 57 605990
MedGen 42 C2700426
MeSH 44 D053040
UMLS 73 C0558595

Summaries for Nephrolithiasis, Uric Acid

UniProtKB/Swiss-Prot : 75 Uric acid nephrolithiasis: A form of nephrolithiasis, a common multifactorial disease characterized by stones formation in the kidney and urinary tract. Nephrolithiasis is due to supersaturation of the urine by stone- forming constituents, including calcium, oxalate and uric acid. Crystals or foreign bodies can act as nidi, upon which ions from the supersaturated urine form microscopic crystalline structures. Uric acid nephrolithiasis occurs when the urine becomes overly concentrated with uric acid and accounts for 20% of all stones.

MalaCards based summary : Nephrolithiasis, Uric Acid, also known as nephrolithiasis, uric acid, susceptibility to, is related to urolithiasis, uric acid, autosomal dominant and acute urate nephropathy. An important gene associated with Nephrolithiasis, Uric Acid is ZNF365 (Zinc Finger Protein 365), and among its related pathways/superpathways are Drug metabolism - cytochrome P450 and Purine metabolism (KEGG). The drugs Uric Acid and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include kidney.

Description from OMIM: 605990

Related Diseases for Nephrolithiasis, Uric Acid

Diseases related to Nephrolithiasis, Uric Acid via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 urolithiasis, uric acid, autosomal dominant 11.3
2 acute urate nephropathy 11.3
3 nephrolithiasis 9.9
4 purine-pyrimidine metabolic disorder 9.5 HPRT1 XDH
5 adenine phosphoribosyltransferase deficiency 9.5 HPRT1 XDH
6 lesch-nyhan syndrome 9.4 HPRT1 XDH
7 xanthinuria 9.3 HPRT1 XDH
8 hyperuricemia 9.2 HPRT1 XDH
9 gout 9.0 HPRT1 XDH

Comorbidity relations with Nephrolithiasis, Uric Acid via Phenotypic Disease Network (PDN):


Hydronephrosis Hypertension, Essential
Nephrolithiasis, X-Linked Recessive, with Renal Failure Ureterolithiasis

Graphical network of the top 20 diseases related to Nephrolithiasis, Uric Acid:



Diseases related to Nephrolithiasis, Uric Acid

Symptoms & Phenotypes for Nephrolithiasis, Uric Acid

Clinical features from OMIM:

605990

Drugs & Therapeutics for Nephrolithiasis, Uric Acid

Drugs for Nephrolithiasis, Uric Acid (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Uric Acid Experimental, Investigational Not Applicable 69-93-2 1175
2 Antioxidants Not Applicable
3 Protective Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Renal Uptake of Fatty Acids (FFA) in Patients With Idiopathic Uric Acid Nephrolithiasis (IUAN) Recruiting NCT02975986 Not Applicable

Search NIH Clinical Center for Nephrolithiasis, Uric Acid

Genetic Tests for Nephrolithiasis, Uric Acid

Genetic tests related to Nephrolithiasis, Uric Acid:

# Genetic test Affiliating Genes
1 Uric Acid Nephrolithiasis, Susceptibility to 29 ZNF365

Anatomical Context for Nephrolithiasis, Uric Acid

MalaCards organs/tissues related to Nephrolithiasis, Uric Acid:

41
Kidney

Publications for Nephrolithiasis, Uric Acid

Articles related to Nephrolithiasis, Uric Acid:

(show all 29)
# Title Authors Year
1
Uric acid nephrolithiasis: An update. ( 29687761 )
2018
2
An Increase Incidence in Uric Acid Nephrolithiasis: Changing Patterns. ( 27630833 )
2016
3
Role of insulin resistance in uric acid nephrolithiasis. ( 25374817 )
2014
4
Protein expression of urate transporters in renal tissue of patients with uric acid nephrolithiasis. ( 24723238 )
2014
5
Theobromine inhibits uric Acid crystallization. A potential application in the treatment of uric Acid nephrolithiasis. ( 25333633 )
2014
6
Analysis of risk factors for uric acid nephrolithiasis in type 2 diabetes. ( 21566304 )
2011
7
Urinary alkalization for the treatment of uric acid nephrolithiasis. ( 21121431 )
2010
8
Circadian variation in urine pH and uric acid nephrolithiasis risk. ( 17967802 )
2008
9
Metabolic syndrome and uric acid nephrolithiasis. ( 18359398 )
2008
10
Clinical and biochemical profile of patients with "pure" uric acid nephrolithiasis compared with "pure" calcium oxalate stone formers. ( 17786420 )
2007
11
Uric Acid nephrolithiasis: recent progress and future directions. ( 17396168 )
2007
12
Circadian variation in urine pH and uric acid nephrolithiasis risk. ( 17478488 )
2007
13
Uric acid nephrolithiasis. ( 17531180 )
2007
14
Uric acid nephrolithiasis. ( 17678984 )
2007
15
Urine composition in type 2 diabetes: predisposition to uric acid nephrolithiasis. ( 16597681 )
2006
16
Uric acid nephrolithiasis: proton titration of an essential molecule? ( 16775450 )
2006
17
[Multifactorial disorder: molecular and evolutionary insights of uric acid nephrolithiasis]. ( 16518303 )
2005
18
Novel insights into the pathogenesis of uric acid nephrolithiasis. ( 15202612 )
2004
19
The metabolic syndrome and uric acid nephrolithiasis: novel features of renal manifestation of insulin resistance. ( 14717908 )
2004
20
Emergence of talanin protein associated with human uric acid nephrolithiasis in the hominidae lineage. ( 15363853 )
2004
21
Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. ( 12740763 )
2003
22
Bilateral uric acid nephrolithiasis and ureteral hypertrophy in a free-ranging river otter (Lontra canadensis). ( 14733290 )
2003
23
Role of urinary inhibitors of crystallization in uric acid nephrolithiasis: Dalmatian dog model. ( 12946778 )
2003
24
Urinary glycosaminoglycans as risk factors for uric acid nephrolithiasis: case control study in a Sardinian genetic isolate. ( 12946738 )
2003
25
Pathophysiology of uric acid nephrolithiasis. ( 12474637 )
2002
26
Identification of a new candidate locus for uric acid nephrolithiasis. ( 11309680 )
2001
27
Type IV renal tubular acidosis and uric acid nephrolithiasis in William's syndrome--an unusual mode of renal involvement. ( 9249793 )
1997
28
Uric acid nephrolithiasis. ( 7783706 )
1994
29
Cystinuria, hyperuricemia and uric acid nephrolithiasis. Case report. ( 5495289 )
1970

Variations for Nephrolithiasis, Uric Acid

ClinVar genetic disease variations for Nephrolithiasis, Uric Acid:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF365 NM_199452.3(ZNF365): c.184G> A (p.Ala62Thr) single nucleotide variant risk factor rs7076156 GRCh37 Chromosome 10, 64415184: 64415184
2 ZNF365 NM_199452.3(ZNF365): c.184G> A (p.Ala62Thr) single nucleotide variant risk factor rs7076156 GRCh38 Chromosome 10, 62655424: 62655424

Expression for Nephrolithiasis, Uric Acid

Search GEO for disease gene expression data for Nephrolithiasis, Uric Acid.

Pathways for Nephrolithiasis, Uric Acid

Pathways related to Nephrolithiasis, Uric Acid according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.95 HPRT1 XDH
2
Show member pathways
11.72 HPRT1 XDH
3
Show member pathways
11.3 HPRT1 XDH
4 10.05 HPRT1 XDH

GO Terms for Nephrolithiasis, Uric Acid

Molecular functions related to Nephrolithiasis, Uric Acid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 8.8 HPRT1 XDH ZNF365

Sources for Nephrolithiasis, Uric Acid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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