UAN
MCID: NPH078
MIFTS: 24

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 57
Nephrolithiasis, Uric Acid, Susceptibility to 57 13 40
Uric Acid Urolithiasis 75 73
Uan 57 75
Urolithiasis, Uric Acid, Susceptibility to 57
Uric Acid Nephrolithiasis 75
Uric Acid Renal Calculus 73
Urolithiasis, Uric Acid 57

Classifications:



External Ids:

OMIM 57 605990
MedGen 42 C2700426
MeSH 44 D053040

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 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 Purine metabolism (KEGG). The drugs Uric Acid and Technetium Tc 99m Mertiatide have been mentioned in the context of this disorder. Affiliated tissues include kidney.

Wikipedia : 76 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

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis 30.0 HPRT1 XDH ZNF365
2 hyperuricemia 29.6 HPRT1 XDH
3 acute urate nephropathy 11.6
4 urolithiasis, uric acid, autosomal dominant 11.4
5 phosphoribosylpyrophosphate synthetase superactivity 11.3
6 factitious disorder 10.0
7 cystinuria 10.0
8 hepatitis 10.0
9 renal tubular acidosis 10.0
10 hepatitis c 10.0
11 purine-pyrimidine metabolic disorder 9.8 HPRT1 XDH
12 adenine phosphoribosyltransferase deficiency 9.8 HPRT1 XDH
13 lesch-nyhan syndrome 9.8 HPRT1 XDH
14 xanthinuria 9.8 HPRT1 XDH
15 gout 9.7 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 Technetium Tc 99m Mertiatide Not Applicable
3 Protective Agents Not Applicable
4 Radiopharmaceuticals Not Applicable
5 Antioxidants 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

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:

# Title Authors Year
1
Factitious uric acid urolithiasis as a feature of the Munchausen syndrome. ( 4547206 )
1974

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
11.96 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

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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