MCID: NPH091
MIFTS: 51

Nephrolithiasis, Calcium Oxalate

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Nephrolithiasis, Calcium Oxalate

MalaCards integrated aliases for Nephrolithiasis, Calcium Oxalate:

Name: Nephrolithiasis, Calcium Oxalate 57 75 40 73
Kidney Stones 57 75 43 63
Calcium Oxalate Urolithiasis 75 29 6
Urolithiasis, Calcium Oxalate 57 75
Caon 57 75
Nephrolithiasis 73
Kidney Calculi 73
Renal Stone 55

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
one patient has been reported (last curated june 2016)


HPO:

32
nephrolithiasis, calcium oxalate:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephrolithiasis, Calcium Oxalate

PubMed Health : 63 About kidney stones: Kidney stones are small, hard deposits that can form in a part of the kidney called the renal pelvis. Kidney stones that enter a ureter are sometimes referred to as ureteral stones. The ureters are the tubes that carry urine from the kidneys to the bladder.Many of these stones are so small that they are able to travel to the bladder in just a few days or weeks without any treatment, and then exit the body in your urine. So if the stones are smaller, it's often enough to take painkillers, drink plenty of fluids and simply wait for the kidney stones to pass through. Muscle-relaxing medications can be used to help pass medium-sized stones.Larger stones may get stuck as they exit the renal pelvis or take longer to move through the ureter, causing severe pain and other symptoms. Then they usually need to be broken up by sound waves or surgically removed. The most suitable treatment will depend on the size, the type and the position of the stones in the kidney or the urinary tract.It's common to have kidney stones multiple times. Finding the cause is a necessary part of preventing that from happening.

MalaCards based summary : Nephrolithiasis, Calcium Oxalate, also known as kidney stones, is related to nephrolithiasis and hyperoxaluria, primary, type iii, and has symptoms including renal pain An important gene associated with Nephrolithiasis, Calcium Oxalate is SLC26A1 (Solute Carrier Family 26 Member 1), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Glyoxylate and dicarboxylate metabolism. The drugs Citric Acid and Anticoagulants have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and bone, and related phenotypes are acute kidney injury and ureteropelvic junction obstruction

OMIM : 57 Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (220100) and primary hyperoxaluria (see 259900) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts. Thorleifsson et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%. (167030)

MedlinePlus : 43 A kidney stone is a solid piece of material that forms in the kidney from substances in the urine. It may be as small as a grain of sand or as large as a pearl. Most kidney stones pass out of the body without help from a doctor. But sometimes a stone will not go away. It may get stuck in the urinary tract, block the flow of urine and cause great pain. The following may be signs of kidney stones that need a doctor's help: Extreme pain in your back or side that will not go away Blood in your urine Fever and chills Vomiting Urine that smells bad or looks cloudy A burning feeling when you urinate Your doctor will diagnose a kidney stone with urine, blood, and imaging tests. If you have a stone that won't pass on its own, you may need treatment. It can be done with shock waves; with a scope inserted through the tube that carries urine out of the body, called the urethra; or with surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

UniProtKB/Swiss-Prot : 75 Nephrolithiasis, calcium oxalate: A form of nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system. Patients manifest acute renal colic with severe pain originating in the flank. Patients with small, non-obstructing stones or those with staghorn calculi may be asymptomatic. The majority of renal calculi contain calcium. CAON is characterized by calcium oxalate kidney stones.

Wikipedia : 76 Kidney stone disease, also known as urolithiasis, is when a solid piece of material (kidney stone)... more...

Related Diseases for Nephrolithiasis, Calcium Oxalate

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis 30.9 AGXT APRT CASR CLCN5 GRHPR SLC26A1
2 hyperoxaluria, primary, type iii 11.2
3 dent disease 1 11.2
4 urate oxidase, pseudogene 10.8
5 5-oxoprolinase deficiency 10.8
6 kelley-seegmiller syndrome 10.8
7 nephrolithiasis, x-linked recessive, with renal failure 10.8
8 bartter disease 10.5 CASR CLCN5 UMOD
9 calciphylaxis 10.5 CASR VDR
10 hypercalcemia, infantile, 1 10.5 CASR VDR
11 hypercalciuria, absorptive, 2 10.4 CASR CLCN5 VDR
12 uremia 10.3 CASR SPP1 VDR
13 prostate sarcoma 10.3 CKB CKM
14 phosphorus metabolism disease 10.3 CASR SLC34A1 VDR
15 hypophosphatemic rickets, x-linked recessive 10.2 CLCN5 SLC34A1 VDR
16 hypocalcemia, autosomal dominant 1 10.2 CASR VDR
17 hereditary xanthinuria 10.2 APRT XDH
18 primary hyperoxaluria 10.2
19 prostate rhabdomyosarcoma 10.2 CKB CKM
20 hypophosphatemic rickets, x-linked dominant 10.2 SLC34A1 VDR
21 rickets 10.2 CLCN5 SLC34A1 VDR
22 cystinuria 10.1
23 mineral metabolism disease 10.1 AGXT CASR CLCN5 VDR
24 purine-pyrimidine metabolic disorder 10.1 APRT XDH
25 nephrocalcinosis 10.1 AGXT CLCN5 GRHPR SLC34A1
26 dressler's syndrome 10.1 CKB CKM
27 hypertensive nephropathy 10.1 AMBP NAGLU
28 adenine phosphoribosyltransferase deficiency 10.1 APRT XDH
29 idiopathic hypercalciuria 10.1 CASR CLCN5 NAGLU VDR
30 vesicoureteral reflux 1 10.0 AMBP NAGLU UMOD
31 chronic kidney failure 10.0 AGXT CASR UMOD VDR
32 hypouricemia, renal, 1 10.0
33 familial periodic paralysis 10.0
34 hypokalemia 10.0
35 familial periodic paralyses 10.0
36 hyperparathyroidism 10.0
37 dentin dysplasia, type ii 9.9 IBSP SPP1
38 primary hyperparathyroidism 9.9
39 gout 9.9 APRT UMOD XDH
40 acute kidney tubular necrosis 9.9 NAGLU UMOD
41 hyperphosphatemia 9.7 CASR MGP SLC34A1 VDR
42 dentin dysplasia 9.5 IBSP SPP1
43 pseudoxanthoma elasticum 9.3 IBSP MGP SPP1
44 bone disease 9.3 CASR IBSP SPP1 VDR
45 kidney disease 8.8 AMBP CASR MGP NAGLU UMOD VDR
46 osteoporosis 8.3 CASR IBSP MGP SLC34A1 SPP1 VDR
47 xanthinuria, type i 6.6 AGXT AMBP APRT CASR CKB CKM

Graphical network of the top 20 diseases related to Nephrolithiasis, Calcium Oxalate:



Diseases related to Nephrolithiasis, Calcium Oxalate

Symptoms & Phenotypes for Nephrolithiasis, Calcium Oxalate

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephrolithiasis, calcium oxalate
acute renal failure

Laboratory Abnormalities:
increased urinary oxalate

Genitourinary Bladder:
ureteropelvic junction obstruction


Clinical features from OMIM:

167030

Human phenotypes related to Nephrolithiasis, Calcium Oxalate:

32
# Description HPO Frequency HPO Source Accession
1 acute kidney injury 32 HP:0001919
2 ureteropelvic junction obstruction 32 HP:0000074
3 calcium oxalate nephrolithiasis 32 HP:0008672
4 hyperoxaluria 32 HP:0003159

UMLS symptoms related to Nephrolithiasis, Calcium Oxalate:


renal pain

MGI Mouse Phenotypes related to Nephrolithiasis, Calcium Oxalate:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 UMOD VDR XDH MGP CASR NAGLU
2 homeostasis/metabolism MP:0005376 10.13 UMOD VDR XDH SPP1 APRT MGP
3 behavior/neurological MP:0005386 10.09 UMOD VDR SPP1 APRT NAGLU CASR
4 cellular MP:0005384 10.06 SPP1 UMOD VDR XDH NAGLU CASR
5 immune system MP:0005387 9.96 UMOD VDR XDH SPP1 APRT CASR
6 renal/urinary system MP:0005367 9.77 UMOD VDR XDH MGP CASR NAGLU
7 muscle MP:0005369 9.7 VDR XDH SPP1 MGP CASR CKM
8 skeleton MP:0005390 9.28 UMOD VDR SPP1 MGP CASR NAGLU

Drugs & Therapeutics for Nephrolithiasis, Calcium Oxalate

PubMedHealth treatment related to Nephrolithiasis, Calcium Oxalate: 63

If you have smaller kidney stones that aren't painful, all you need to do is wait to pass them when you urinate. It's possible to tell by their size and location whether they can pass on their own. You can use painkillers such as diclofenac, ibuprofen or metamizole to relieve any pain. They can be combined with stronger drugs (opioids) for more severe pain.Certain muscle-relaxing medications (alpha blockers) can make it easier to pass kidney stones that are 5 to 10 millimeters in diameter. Larger kidney stones usually need to be removed. Depending on how large the kidney stones are and where they're located, sound waves can be used to destroy them or they can be removed using endoscopy or surgery.

Drugs for Nephrolithiasis, Calcium Oxalate (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 77-92-9 311
2 Anticoagulants Phase 4
3 Calcium, Dietary Phase 4,Phase 2,Phase 1,Not Applicable
4 Chelating Agents Phase 4
5 Citrate Nutraceutical Phase 4,Phase 2
6
Tolvaptan Approved Phase 1 150683-30-0 216237
7 Arginine Vasopressin Phase 1
8 Hormones Phase 1
9 Natriuretic Agents Phase 1
10 Vasopressins Phase 1
11
acetic acid Approved, Nutraceutical Not Applicable 64-19-7 176
12 Bone Density Conservation Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Potassium Sodium Hydrogen Citrate Therapy on Renal Stone Recurrence and/or Residual Fragments After Shockwave Lithotripsy and Percutaneous Nephrolithotomy in Calcium Oxalate Urolithiasis Completed NCT01329042 Phase 4 Potassium-sodium citrate
2 Use of an Herbal Preparation to Prevent and Dissolve Kidney Stones Completed NCT00381849 Phase 1, Phase 2 Cystone;Sugar Pill (Placebo)
3 Nephrolithiasis Prevention by Lemon Juice Active, not recruiting NCT01217372 Phase 2
4 Use of Tolvaptan to Reduce Urinary Supersaturation: a Pilot Proof of Principle Study Completed NCT02096965 Phase 1 Tolvaptan;Placebo
5 Mature Vinegar Prophylaxis Against Recurrent Calcium Oxalate Nephrolithiasis Recruiting NCT03092908 Not Applicable
6 Pilot Study to Evaluate the Contribution of Gene Variants to Idiopathic Urolithiasis Enrolling by invitation NCT01127854
7 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305

Search NIH Clinical Center for Nephrolithiasis, Calcium Oxalate

Genetic Tests for Nephrolithiasis, Calcium Oxalate

Genetic tests related to Nephrolithiasis, Calcium Oxalate:

# Genetic test Affiliating Genes
1 Calcium Oxalate Urolithiasis 29 SLC26A1

Anatomical Context for Nephrolithiasis, Calcium Oxalate

MalaCards organs/tissues related to Nephrolithiasis, Calcium Oxalate:

41
Kidney, Testes, Bone, Heart

Publications for Nephrolithiasis, Calcium Oxalate

Articles related to Nephrolithiasis, Calcium Oxalate:

(show top 50) (show all 132)
# Title Authors Year
1
HIPK2 polymorphisms rs2058265, rs6464214, and rs7456421 were associated with kidney stone disease in Chinese males not females. ( 29428801 )
2018
2
Incidence and characteristics of kidney stones in patients with horseshoe kidney: A systematic review and meta-analysis. ( 29416282 )
2018
3
Acquired Hemophilia presenting as Gross Hematuria following Kidney Stone - A Case Report and Review of the Literature. ( 29144625 )
2017
4
The L530R variation associated with recurrent kidney stones impairs the structure and function of TRPV5. ( 28847730 )
2017
5
Percutaneous nephrolithotomy versus retrograde intrarenal surgery for the treatment of kidney stones up to 2 cm in patients with solitary kidney: a single centre experience. ( 28100225 )
2017
6
Tracking kidney stones in a homogeneous medium using a trilateration approach. ( 29289106 )
2017
7
Risk Factors for Kidney Stones in Rural Puducherry: Case-Control Study. ( 29207740 )
2017
8
Medical Nutrition Therapy for Pediatric Kidney Stone Prevention, Part 3: Cystinuria. ( 28411956 )
2017
9
Topiramate induced metabolic acidosis and kidney stones - a case study. ( 28694730 )
2017
10
A variant in a cis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones. ( 28229505 )
2017
11
Association of calcitonin receptor gene (CALCR) polymorphism with kidney stone disease in the population of West Bengal, India. ( 28435134 )
2017
12
Editorial Comment on: Vascular Disease and Kidney Stones: Abdominal Aortic Calcifications Are Associated with Low Urine pH and Hypocitraturia by Patel et al. ( 28817950 )
2017
13
The rarest phenomenon of flexible ureterolithotripsy: Kidney stone in supernumerary type combination with a horseshoe kidney. ( 29118544 )
2017
14
Prevalence and risk factors for kidney stones in fibrodysplasia ossificans progressiva. ( 29241827 )
2017
15
Furosemide/Fludrocortisone Test and Clinical Parameters to Diagnose Incomplete Distal Renal Tubular Acidosis in Kidney Stone Formers. ( 28775126 )
2017
16
Assessment of the SonixGPS system for its application in real-time ultrasonography navigation-guided percutaneous nephrolithotomy for the treatment of complex kidney stones. ( 27394139 )
2017
17
Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones. ( 27644547 )
2016
18
Successful treatment of renal tubular acidosis and recurrent secondary struvite kidney stones with rituximab in a patient with primary SjAPgren's syndrome. ( 28031439 )
2016
19
Kidney stones and crushed bones secondary to hyperparathyroidism. ( 26722166 )
2016
20
Hypercalcemia, hypercalciuria, and kidney stones in long-term studies of vitamin D supplementation: a systematic review and meta-analysis. ( 27604776 )
2016
21
Selective screening for distal renal tubular acidosis in recurrent kidney stone formers: initial experience and comparison of the simultaneous furosemide and fludrocortisone test with the short ammonium chloride test. ( 26961999 )
2016
22
Comparison of shockwave lithotripsy and flexible ureteroscopy for the treatment of kidney stones in patients with a solitary kidney. ( 25268731 )
2015
23
Guideline of guidelines: kidney stones. ( 25684222 )
2015
24
Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India. ( 26107257 )
2015
25
An evaluation of Tamm-Horsfall protein glycans in kidney stone formers using novel techniques. ( 25935139 )
2015
26
Targeted microbubbles: a novel application for the treatment of kidney stones. ( 25402588 )
2015
27
Hypothesis: Urbanization and exposure to urban heat islands contribute to increasing prevalence of kidney stones. ( 26372336 )
2015
28
[GENETIC RISK FACTORS FOR MULTIPLE KIDNEY STONE FORMATION IN THE RUSSIAN POPULATION]. ( 26665756 )
2015
29
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. ( 24700880 )
2014
30
Androgen receptor enhances kidney stone-CaOx crystal formation via modulation of oxalate biosynthesis & oxidative stress. ( 24956378 )
2014
31
From crystalluria to kidney stones, some physicochemical aspects of calcium nephrolithiasis. ( 25374820 )
2014
32
Flexible ureterorenoscopy is safe and efficient for the treatment of kidney stones in patients with chronic kidney disease. ( 25283705 )
2014
33
The risk of kidney cancer in patients with kidney stones: a systematic review and meta-analysis. ( 25208892 )
2014
34
Thiazide diuretic prophylaxis for kidney stones and the risk of diabetes mellitus. ( 24992333 )
2014
35
Variability in kidney stone incidence between black and white South Africans: AGT Pro11Leu polymorphism is not a factor. ( 24344980 )
2014
36
Combined semirigid and flexible ureterorenoscopy via a large ureteral access sheath for kidney stones >2 cm: a bicentric prospective assessment. ( 23821122 )
2014
37
Flexible Ureterorenoscopy versus Extracorporeal Shock Wave Lithotripsy for the treatment of upper/middle calyx kidney stones of 10-20a88mm: a retrospective analysis of 174 patients. ( 25332859 )
2014
38
Kidney stone composition in overweight and obese patients: a preliminary report. ( 24400230 )
2013
39
History of kidney stones and the risk of coronary heart disease. ( 23917291 )
2013
40
New Insights Regarding the Interrelationship of Obesity, Diet, Physical Activity, and Kidney Stones. ( 24335974 )
2013
41
Activity, Energy Intake, Obesity, and the Risk of Incident Kidney Stones in Postmenopausal Women: A Report from the Women's Health Initiative. ( 24335976 )
2013
42
Molecular mechanisms of crystal-related kidney inflammation and injury. Implications for cholesterol embolism, crystalline nephropathies and kidney stone disease. ( 24163269 )
2013
43
Kidney stones and the risk of coronary heart disease. ( 24267388 )
2013
44
Kidney stones in primary hyperoxaluria: new lessons learnt. ( 23940605 )
2013
45
Kidney stones: an update on current pharmacological management and future directions. ( 23438422 )
2013
46
Causes of autonomic dysfunction in idiopathic recurrent kidney stone formers. ( 21559789 )
2012
47
This, too, shall pass--like a kidney stone: a possible path to prophylaxis of nephrolithiasis? Focus on "Cholinergic signaling inhibits oxalate transport by human intestinal T84 cells". ( 22049207 )
2012
48
Associations of insulin resistance and glycemic control with the risk of kidney stones. ( 22466823 )
2012
49
A polymorphism of matrix Gla protein gene is associated with kidney stone in the Chinese Han population. ( 23046575 )
2012
50
Impact of calcium intake and intestinal calcium absorption on kidney stones in older women: the study of osteoporotic fractures. ( 22341269 )
2012

Variations for Nephrolithiasis, Calcium Oxalate

UniProtKB/Swiss-Prot genetic disease variations for Nephrolithiasis, Calcium Oxalate:

75
# Symbol AA change Variation ID SNP ID
1 SLC26A1 p.Thr185Met VAR_077135 rs139024319
2 SLC26A1 p.Ser358Leu VAR_077136 rs148832260

ClinVar genetic disease variations for Nephrolithiasis, Calcium Oxalate:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A1 NM_134425.2(SLC26A1): c.554C> T (p.Thr185Met) single nucleotide variant Pathogenic rs139024319 GRCh38 Chromosome 4, 991150: 991150
2 SLC26A1 NM_134425.2(SLC26A1): c.554C> T (p.Thr185Met) single nucleotide variant Pathogenic rs139024319 GRCh37 Chromosome 4, 984938: 984938
3 SLC26A1 NM_022042.3(SLC26A1): c.1073C> T (p.Ser358Leu) single nucleotide variant Pathogenic rs148832260 GRCh38 Chromosome 4, 989866: 989866
4 SLC26A1 NM_022042.3(SLC26A1): c.1073C> T (p.Ser358Leu) single nucleotide variant Pathogenic rs148832260 GRCh37 Chromosome 4, 983654: 983654

Expression for Nephrolithiasis, Calcium Oxalate

Search GEO for disease gene expression data for Nephrolithiasis, Calcium Oxalate.

Pathways for Nephrolithiasis, Calcium Oxalate

GO Terms for Nephrolithiasis, Calcium Oxalate

Biological processes related to Nephrolithiasis, Calcium Oxalate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.5 CASR MGP SLC34A1
2 cellular nitrogen compound metabolic process GO:0034641 9.4 AGXT GRHPR
3 decidualization GO:0046697 9.37 SPP1 VDR
4 creatine metabolic process GO:0006600 9.26 CKB CKM
5 glyoxylate metabolic process GO:0046487 9.16 AGXT GRHPR
6 lactation GO:0007595 9.13 APRT VDR XDH
7 excretion GO:0007588 8.8 CLCN5 GRHPR UMOD

Molecular functions related to Nephrolithiasis, Calcium Oxalate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.43 AGXT AMBP CASR GRHPR SLC34A1 XDH
2 amino acid binding GO:0016597 9.26 AGXT CASR
3 transferase activity, transferring phosphorus-containing groups GO:0016772 9.16 CKB CKM
4 creatine kinase activity GO:0004111 8.62 CKB CKM

Sources for Nephrolithiasis, Calcium Oxalate

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
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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