UAN
MCID: NPH078
MIFTS: 41

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 56
Uric Acid Nephrolithiasis 12 73 54 15
Uric Acid Urolithiasis 12 73 15 71
Nephrolithiasis, Uric Acid, Susceptibility to 56 13 39
Uric Acid Nephrolithiasis, Susceptibility to 29 6
Uan 56 73
Urolithiasis, Uric Acid, Susceptibility to 56
Uric Acid Renal Calculus 71
Urolithiasis, Uric Acid 56
Acute Urate Nephropathy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080654 DOID:580
OMIM 56 605990
ICD9CM 34 274.11
MeSH 43 D053040
NCIt 49 C123245
SNOMED-CT 67 267441009
MedGen 41 C2700426
UMLS 71 C0403719 C0558595

Summaries for Nephrolithiasis, Uric Acid

UniProtKB/Swiss-Prot : 73 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 uric acid nephrolithiasis, is related to phosphoribosylpyrophosphate synthetase superactivity and hypouricemia, renal, 1. An important gene associated with Nephrolithiasis, Uric Acid is ZNF365 (Zinc Finger Protein 365), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Amino acid transport across the plasma membrane. The drugs Pioglitazone and Uric acid have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are homeostasis/metabolism and renal/urinary system

Disease Ontology : 12 An urolithiasis in which the composition of the stones is predominantly urate.

More information 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 top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 phosphoribosylpyrophosphate synthetase superactivity 32.3 PRPS1 HPRT1 GRHPR
2 hypouricemia, renal, 1 30.3 SLC2A9 SLC22A12 HPRT1
3 hyperuricemia 29.9 XDH SLC2A9 SLC22A12 PRPS1 HPRT1
4 lesch-nyhan syndrome 29.6 XDH SLC2A9 SLC22A12 PRPS1 HPRT1
5 cystinuria 29.2 SLC7A9 SLC3A1 HOGA1 GRHPR
6 urolithiasis 29.0 XDH SLC7A9 SLC3A1 PRPS1 HPRT1 HOGA1
7 gout 28.9 XDH SLC2A9 SLC22A12 SLC22A11 PRPS1 HPRT1
8 xanthinuria 28.6 XDH SLC7A9 SLC2A9 SLC22A12 HPRT1 HOGA1
9 nephrolithiasis 26.7 ZNF365 XDH SLC7A9 SLC3A1 SLC2A9 SLC22A12
10 urolithiasis, uric acid, autosomal dominant 11.6
11 nephrolithiasis, calcium oxalate 10.4
12 arts syndrome 10.2 PRPS1 HPRT1
13 alzheimer disease 17 10.2 XDH SLC22A12
14 urate oxidase, pseudogene 10.2
15 urethral calculus 10.1 HOGA1 GRHPR
16 pernicious anemia 10.0
17 body mass index quantitative trait locus 1 10.0
18 autoimmune lymphoproliferative syndrome, type v 10.0
19 thalassemia 10.0
20 glucose intolerance 10.0
21 renal tubular acidosis 10.0
22 hepatitis c 10.0
23 hyperinsulinism 10.0
24 acquired polycythemia 10.0
25 hemoglobinopathy 10.0
26 polycythemia 10.0
27 hereditary xanthinuria 10.0
28 idiopathic hypercalciuria 10.0
29 prostatic hyperplasia, benign 10.0
30 prostatic hypertrophy 10.0
31 factitious disorder 10.0
32 prostatic adenoma 10.0
33 acute kidney failure 10.0
34 kidney disease 10.0
35 acute diarrhea 10.0
36 diarrhea 10.0
37 status epilepticus 10.0
38 diabetes insipidus 10.0
39 hyperoxaluria, primary, type iii 10.0 HOGA1 GRHPR
40 aminoaciduria 9.9 SLC7A9 SLC3A1
41 ureteral disease 9.9 SLC7A9 SLC3A1
42 hypomagnesemia 2, renal 9.8 GRHPR CLDN16
43 hypotonia-cystinuria syndrome 9.8 SLC7A9 SLC3A1
44 hypomagnesemia 5, renal, with or without ocular involvement 9.8 CLDN19 CLDN16
45 hypomagnesemia 1, intestinal 9.8 CLDN19 CLDN16
46 bartter syndrome, type 1, antenatal 9.8 CLDN19 CLDN16
47 deafness, autosomal recessive 29 9.8 CLDN19 CLDN16
48 primary hypomagnesemia 9.7 CLDN19 CLDN16
49 adenine phosphoribosyltransferase deficiency 9.7 XDH HPRT1 HOGA1 GRHPR
50 bartter syndrome, type 3 9.7 CLDN19 CLDN16

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

MGI Mouse Phenotypes related to Nephrolithiasis, Uric Acid:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 CLDN16 CLDN19 GRHPR HOGA1 HPRT1 SLC13A3
2 renal/urinary system MP:0005367 9.28 CLDN16 GRHPR HOGA1 HPRT1 SLC22A12 SLC2A9

Drugs & Therapeutics for Nephrolithiasis, Uric Acid

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
2
Uric acid Investigational Phase 4 69-93-2 1175
3 Hypoglycemic Agents Phase 4
4
Allopurinol Approved Phase 3 315-30-0 2094
5 Antirheumatic Agents Phase 3
6 Antioxidants Phase 3
7 Protective Agents Phase 3
8 Antimetabolites Phase 3
9
Febuxostat Approved 144060-53-7 134018
10
Sodium citrate Approved, Investigational 68-04-2
11
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
12
2,4-thiazolidinedione Investigational 2295-31-0
13 Technetium Tc 99m Mertiatide
14 Radiopharmaceuticals
15 Citrate
16 Chelating Agents
17 Anticoagulants
18 Calcium, Dietary
19
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Pathogenesis of Uric Acid Nephrolithiasis: Role of Pioglitazone/Weight Loss Active, not recruiting NCT04370093 Phase 4 Pioglitazone 45 mg
2 Effects of Allopurinol on Inflammatory Markers and Morphostructural Changes Evidenced by Musculoskeletal Ultrasound in Individuals With Asymptomatic Hyperuricemia. A Proof of Concept Recruiting NCT04012294 Phase 3 Allopurinol Pill
3 Phase II, Dose-Response, Safety and Efficacy Study of Oral TMX-67 in Subjects With Gout. Completed NCT00174967 Phase 2 Placebo;Febuxostat;Febuxostat;Febuxostat
4 The Links Between Water and Salt Intake, Body Weight, Hypertension and Kidney Stones: a Difficult Puzzle Unknown status NCT01100580
5 A Study to Assess a Direct Physical Measurement Method for Evaluation of Tophus Nodules in Subjects With Gout. Completed NCT00175006
6 Shockwave Lithotripsy (SWL) Versus Oral Dissolution Therapy (ODT) Versus Combined SWL And ODT For Radiolucent Renal Stone Randomised Controlled Trial Completed NCT03388060
7 Pathophysiology of Uric Acid Nephrolithiasis Recruiting NCT00904046 Pioglitazone;Placebo
8 Renal Uptake of Fatty Acids (FFA) in Patients With Idiopathic Uric Acid Nephrolithiasis (IUAN) Recruiting NCT02975986
9 A Randomized, Prospective, Controlled Study of the Efficacy and Safety of Uralyt-U Combined With Febuxostat in the Treatment of Hyperuricemia With Uric Acid Stones Recruiting NCT04352153 Febuxostat;Uralyt-U
10 Stone Disease in Children and Their Families Available NCT00765531
11 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305

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:

40
Kidney, Liver

Publications for Nephrolithiasis, Uric Acid

Articles related to Nephrolithiasis, Uric Acid:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. 56 6
12740763 2003
2
Identification of a new candidate locus for uric acid nephrolithiasis. 56
11309680 2001
3
Decreased Associated Risk of Gout in Diabetes Patients with Uric Acid Urolithiasis. 61
31557790 2019
4
Method of alkalization and monitoring of urinary pH for prevention of recurrent uric acid urolithiasis: a systematic review. 61
31656751 2019
5
[Epidemiology of urolithiasis in French West Indies: A retrospective study]. 61
29162379 2018
6
Risk of Urolithiasis in Anorexia Nervosa: A Population-Based Cohort Study Using the Health Improvement Network. 61
28660717 2017
7
Epidemiology, pathophysiology, and management of uric acid urolithiasis: A narrative review. 61
28748117 2017
8
Recent advances in understanding and managing urolithiasis. 61
27853528 2016
9
[EXPERIENCE OF USE OF BLEMAREN® IN THE TREATMENT OF PATIENTS IN URIC ACID AND CALCIUM OXALATE UROLITHIASIS]. 61
26859932 2015
10
Effects of visceral fat area and other metabolic parameters on stone composition in patients undergoing percutaneous nephrolithotomy. 61
23685097 2013
11
Detection of melamine in a human renal uric acid stone by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). 61
22548855 2012
12
Overweight, insulin resistance and blood pressure (parameters of the metabolic syndrome) in uric acid urolithiasis. 61
21866382 2012
13
Metabolic basis for low urine pH in type 2 diabetes. 61
20413437 2010
14
Urinary melamine and adult urolithiasis in Taiwan. 61
19900434 2010
15
Local factors compared with systemic factors in the formation of bladder uric acid stones. 61
19172097 2009
16
The diagnosis of HPRT deficiency in the 21st century. 61
18600505 2008
17
Extracorporeal shock wave lithotripsy of impacted radiolucent stone at the right pyeloureteric junction and oral dissolution therapy in a patient with transplanted liver: a case report. 61
18089430 2007
18
Clinical study of uric acid urolithiasis. 61
17525014 2007
19
[Diet and nutrition in nephrolitiasis]. 61
17405659 2007
20
Pathogenesis, clinical findings and management of acute and chronic gout. 54
17213786 2006
21
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation. 54
15965771 2005
22
Mutational analysis of idiopathic renal hypouricemia in Korea. 61
15912381 2005
23
[Medical treatment of urinary lithiasis]. 61
15495468 2004
24
[Alkaline citrates in urology. A status report]. 61
15085266 2004
25
Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency. 54
12508781 2002
26
Biochemical distinction between hyperuricosuric calcium urolithiasis and gouty diathesis. 61
12429297 2002
27
Analysis of purines in urinary calculi by high-performance liquid chromatography. 61
11067744 2000
28
[Recurrence-free and recurrent urolithiasis: metabolic differences]. 61
11150160 1999
29
[Evaluation of treatment and preventive care for recurrent urolithiasis in children]. 61
10910656 1999
30
Uric acid urolithiasis and crystallization inhibitors. 61
10567882 1999
31
Purine metabolism of uric acid urolithiasis induced in newborn piglets. 61
9524944 1998
32
[Evaluation of treatment of uric acid urolithiasis and prevention of stone formation in children]. 61
8927472 1996
33
[An epidemiologic study on pathogenesis of uric acid urolithiasis]. 61
8594656 1995
34
Uric acid excretion in children with urolithiasis. 61
2585228 1989
35
2,8-Dihydroxyadenine urolithiasis: report of an adult case in the United States. 61
3806829 1987
36
[Hyperuricuria after fasting as a risk factor for the development of uric acid urolithiasis]. 61
3719622 1986
37
Uric acid urolithiasis in a Dalmatian coach hound. 61
7175910 1982
38
[Long-term treatment and prevention of uric acid urolithiasis with allopurinol]. 61
6807789 1982
39
Hyperuricemia and gout. 61
7042900 1982
40
[Metabolic etiology of urinary calculi in children]. 61
7178091 1982
41
Sulfinpyrazone induced uric acid urolithiasis with acute renal failure. 61
7249646 1981
42
Nephrolithiasis: causes, classification, and management. 61
7193640 1981
43
Significance, mechanisms and control of renal ammoniagenesis. 61
6942803 1981
44
[Conservative treatment of uric acid urolithiasis]. 61
362662 1978
45
The defect of uric acid metabolism in Eck-fistula rats. 61
17644 1977
46
Dissolution of uric acid stones: alternative to surgery. 61
973285 1976
47
Factitious uric acid urolithiasis as a feature of the Munchausen syndrome. 61
4547206 1974
48
The treatment of uric acid urolithiasis with particular reference to the southwestern U.S.A. 61
5412499 1970
49
The etiology of uric acid urolithiasis following ileostomy. 61
4980097 1969
50
Treatment of uric acid urolithiasis with allopurinol: a xanthine oxidase inhibitor. 61
6018432 1967

Variations for Nephrolithiasis, Uric Acid

ClinVar genetic disease variations for Nephrolithiasis, Uric Acid:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF365 NM_199451.3(ZNF365):c.1130-972=SNV Benign 2817 rs7076156 10:64415184-64415184 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
12.76 SLC7A9 SLC3A1 SLC2A9 SLC22A12 SLC22A11 SLC13A3
2
Show member pathways
10.89 SLC7A9 SLC3A1
3 10.8 HOGA1 GRHPR
4 10.56 XDH PRPS1 HPRT1
5 10.54 PRPS1 HPRT1
6 9.88 SLC2A9 SLC22A12 SLC22A11

GO Terms for Nephrolithiasis, Uric Acid

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

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.26 SLC7A9 SLC2A9 SLC22A12 SLC22A11
2 brush border membrane GO:0031526 8.8 SLC7A9 SLC3A1 SLC22A12

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.81 SLC22A12 SLC22A11 SLC13A3 CLDN16
2 transmembrane transport GO:0055085 9.72 SLC7A9 SLC2A9 SLC22A12 SLC22A11 SLC13A3
3 amino acid transmembrane transport GO:0003333 9.49 SLC7A9 SLC3A1
4 excretion GO:0007588 9.48 GRHPR CLDN16
5 nucleoside metabolic process GO:0009116 9.46 PRPS1 HPRT1
6 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.43 CLDN19 CLDN16
7 purine nucleotide biosynthetic process GO:0006164 9.4 PRPS1 HPRT1
8 organic anion transport GO:0015711 9.37 SLC22A12 SLC22A11
9 glyoxylate metabolic process GO:0046487 9.26 HOGA1 GRHPR
10 urate transport GO:0015747 9.16 SLC2A9 SLC22A12
11 L-cystine transport GO:0015811 8.96 SLC7A9 SLC3A1
12 urate metabolic process GO:0046415 8.8 SLC2A9 SLC22A12 SLC22A11

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 9.62 XDH PRPS1 HOGA1 GRHPR
2 amino acid transmembrane transporter activity GO:0015171 9.26 SLC7A9 SLC3A1
3 L-cystine transmembrane transporter activity GO:0015184 9.16 SLC7A9 SLC3A1
4 transmembrane transporter activity GO:0022857 9.02 SLC7A9 SLC2A9 SLC22A12 SLC22A11 SLC13A3
5 urate transmembrane transporter activity GO:0015143 8.96 SLC2A9 SLC22A12

Sources for Nephrolithiasis, Uric Acid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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