UAN
MCID: NPH078
MIFTS: 30

Nephrolithiasis, Uric Acid (UAN)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Nephrolithiasis, Uric Acid

MalaCards integrated aliases for Nephrolithiasis, Uric Acid:

Name: Nephrolithiasis, Uric Acid 58
Nephrolithiasis, Uric Acid, Susceptibility to 58 13 41
Uric Acid Nephrolithiasis, Susceptibility to 30 6
Uric Acid Nephrolithiasis 76 56
Uric Acid Urolithiasis 76 74
Uan 58 76
Urolithiasis, Uric Acid, Susceptibility to 58
Uric Acid Renal Calculus 74
Urolithiasis, Uric Acid 58

Classifications:



External Ids:

OMIM 58 605990
MeSH 45 D053040
MedGen 43 C2700426

Summaries for Nephrolithiasis, Uric Acid

UniProtKB/Swiss-Prot : 76 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 nephrolithiasis and hyperuricemia. 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 Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics. The drugs Uric Acid and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include kidney.

Wikipedia : 77 Kidney stone disease, also known as urolithiasis, is when a solid piece of material (kidney stone)... more...

Description from OMIM: 605990

Related Diseases for Nephrolithiasis, Uric Acid

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 Technetium Tc 99m Mertiatide Not Applicable
4 Radiopharmaceuticals Not Applicable
5 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 30 ZNF365

Anatomical Context for Nephrolithiasis, Uric Acid

MalaCards organs/tissues related to Nephrolithiasis, Uric Acid:

42
Kidney

Publications for Nephrolithiasis, Uric Acid

Articles related to Nephrolithiasis, Uric Acid:

(show all 50)
# Title Authors Year
1
Net Acid Excretion and Urinary Organic Anions in Idiopathic Uric Acid Nephrolithiasis. ( 30745301 )
2019
2
Medical dissolution therapy for the treatment of uric acid nephrolithiasis. ( 30810833 )
2019
3
Uric acid nephrolithiasis: An update. ( 29687761 )
2018
4
Metabolic syndrome and uric acid nephrolithiasis: insulin resistance in focus. ( 29510180 )
2018
5
Mediators of the Effects of Gender on Uric Acid Nephrolithiasis: A Novel Application of Structural Equation Modeling. ( 29666405 )
2018
6
An Increase Incidence in Uric Acid Nephrolithiasis: Changing Patterns. ( 27630833 )
2016
7
Assessment of Urinary Inhibitor or Promoter Activity in Uric Acid Nephrolithiasis. ( 26723865 )
2016
8
Role of insulin resistance in uric acid nephrolithiasis. ( 25374817 )
2014
9
Protein expression of urate transporters in renal tissue of patients with uric acid nephrolithiasis. ( 24723238 )
2014
10
Theobromine inhibits uric Acid crystallization. A potential application in the treatment of uric Acid nephrolithiasis. ( 25333633 )
2014
11
Analysis of risk factors for uric acid nephrolithiasis in type 2 diabetes. ( 21566304 )
2011
12
Uric Acid Nephrolithiasis: A Systemic Metabolic Disorder. ( 25045326 )
2011
13
Urinary alkalization for the treatment of uric acid nephrolithiasis. ( 21121431 )
2010
14
Circadian variation in urine pH and uric acid nephrolithiasis risk. ( 17967802 )
2008
15
Metabolic syndrome and uric acid nephrolithiasis. ( 18359398 )
2008
16
Massive uric acid nephrolithiasis with progressive renal failure due to spontaneous tumour lysis syndrome. ( 25983919 )
2008
17
Clinical and biochemical profile of patients with "pure" uric acid nephrolithiasis compared with "pure" calcium oxalate stone formers. ( 17786420 )
2007
18
Uric Acid nephrolithiasis: recent progress and future directions. ( 17396168 )
2007
19
Circadian variation in urine pH and uric acid nephrolithiasis risk. ( 17478488 )
2007
20
Uric acid nephrolithiasis. ( 17531180 )
2007
21
Uric acid nephrolithiasis. ( 17678984 )
2007
22
Urine composition in type 2 diabetes: predisposition to uric acid nephrolithiasis. ( 16597681 )
2006
23
Uric acid nephrolithiasis: proton titration of an essential molecule? ( 16775450 )
2006
24
[Multifactorial disorder: molecular and evolutionary insights of uric acid nephrolithiasis]. ( 16518303 )
2005
25
Novel insights into the pathogenesis of uric acid nephrolithiasis. ( 15202612 )
2004
26
The metabolic syndrome and uric acid nephrolithiasis: novel features of renal manifestation of insulin resistance. ( 14717908 )
2004
27
Emergence of talanin protein associated with human uric acid nephrolithiasis in the hominidae lineage. ( 15363853 )
2004
28
Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. ( 12740763 )
2003
29
Bilateral uric acid nephrolithiasis and ureteral hypertrophy in a free-ranging river otter (Lontra canadensis). ( 14733290 )
2003
30
Role of urinary inhibitors of crystallization in uric acid nephrolithiasis: Dalmatian dog model. ( 12946778 )
2003
31
Urinary glycosaminoglycans as risk factors for uric acid nephrolithiasis: case control study in a Sardinian genetic isolate. ( 12946738 )
2003
32
Pathophysiology of uric acid nephrolithiasis. ( 12474637 )
2002
33
Pathophysiologic basis for normouricosuric uric acid nephrolithiasis. ( 12164880 )
2002
34
Uric acid nephrolithiasis: current concepts and controversies. ( 12352383 )
2002
35
Identification of a new candidate locus for uric acid nephrolithiasis. ( 11309680 )
2001
36
Uric acid nephrolithiasis associated with interferon and ribavirin treatment of hepatitis C. ( 11330434 )
2001
37
Biochemical profile of idiopathic uric acid nephrolithiasis. ( 11473659 )
2001
38
Type IV renal tubular acidosis and uric acid nephrolithiasis in William's syndrome--an unusual mode of renal involvement. ( 9249793 )
1997
39
Clinical and biochemical features of uric acid nephrolithiasis. ( 7656911 )
1995
40
Uric acid nephrolithiasis. ( 7783706 )
1994
41
Uric acid nephrolithiasis: pathogenesis and treatment. ( 1512822 )
1992
42
Urinary calculi associated with purine metabolism. Uric acid nephrolithiasis. ( 2081513 )
1990
43
Uric acid nephrolithiasis and acute renal failure secondary to streptozotocin nephrotoxicity. ( 2827466 )
1988
44
Successful management of uric acid nephrolithiasis with potassium citrate. ( 3784284 )
1986
45
Pathogenesis and clinical course of mixed calcium oxalate and uric acid nephrolithiasis. ( 7176335 )
1982
46
Prevention of recurrences in uric acid nephrolithiasis. ( 649284 )
1978
47
Calcium-uric acid nephrolithiasis. ( 666467 )
1978
48
Cystinuria, hyperuricemia and uric acid nephrolithiasis. Case report. ( 5495289 )
1970
49
Uric acid nephrolithiasis. ( 4879835 )
1968
50
Uric acid nephrolithiasis in gout. Predisposing factors. ( 6061930 )
1967

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

GO Terms for Nephrolithiasis, Uric Acid

Sources for Nephrolithiasis, Uric Acid

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75 UMLS via Orphanet
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