MCID: NPH003
MIFTS: 53

Nephrocalcinosis malady

Nephrological diseases category

Summaries for Nephrocalcinosis

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Nephrocalcinosis is a disorder in which there is excess calcium deposited in the kidneys. it is relatively common in premature infants. individuals may be asymptomatic or have symptoms related to the condition causing nephrocalcinosis. if kidney stones are present, an individual may have blood in the urine; fever and chills; nausea and vomiting; or severe pain in the belly area, sides of the back (flank), groin, or testicles. later symptoms related to nephrocalcinosis may be associated with chronic kidney failure. it may be caused by use of certain medications or supplements; infection; or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, alport syndrome, bartter syndrome, and a variety of other conditions. some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. the goal of treatment is to reduce symptoms and prevent more calcium from being deposited in the kidneys. last updated: 2/24/2011

MalaCards: Nephrocalcinosis, also known as hypercalcemic nephropathy, is related to renal tubular acidosis and hypercalcemia. An important gene associated with Nephrocalcinosis is CLDN16 (claudin 16), and among its related pathways are O2/CO2 exchange in erythrocytes and Type II Na+/Pi cotransporters. The compounds Methyclothiazide and Quinethazone have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and liver, and related mouse phenotypes are digestive/alimentary and skeleton.

Wikipedia:63 Nephrocalcinosis, once known as Albright\'s calcinosis after Fuller Albright, or \"Anderson-Carr\"... more...

Aliases & Classifications for Nephrocalcinosis

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological diseases


Aliases & Descriptions:

nephrocalcinosis 8 42 10 44 60
hypercalcemic nephropathy 42 60


External Ids:

Disease Ontology8 DOID:12679
NCIt39 C84918
MeSH34 D009397

Related Diseases for Nephrocalcinosis

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17GeneCards, 18GeneDecks
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Diseases related to Nephrocalcinosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1renal tubular acidosis30.9CA2, SLC4A1
2hypercalcemia30.6NR1I3, CASR
3nephrolithiasis30.6CASR, UMOD, NR1I3, AGXT, GRHPR, CLDN16
4rickets30.5PHEX, CLCN5, SLC34A3
5hyperparathyroidism30.5NR1I3, PHEX, CASR
6primary hyperoxaluria30.4AGXT, GRHPR
7dent's disease30.3CLCN5, CLCNKB, LRP2
8proteinuria30.3LRP2, CLCN5, NAGLU, UMOD
9x-linked hypophosphatemia30.2SLC34A3, SLC34A1, CLCN5, PHEX
10cystic fibrosis30.2CLCN5, UMOD, CA2, KCNJ1
11hypophosphatemia30.2PHEX, CLCN5, SLC34A1, SLC34A3
12nephrogenic diabetes insipidus30.2SLC12A1, CASR
13hypoparathyroidism30.1CASR, NR1I3, NAGLU
14hypokalemia30.1KCNJ1, CASR, CLCNKB, SLC12A1
15oculocerebrorenal syndrome29.9NAGLU, LRP2
16osteoporosis29.9SPP1, NR1I3, CASR, CA2
17glomerulonephritis29.9SPP1, LRP2, NAGLU, UMOD, CA2
18calcinosis29.7CASR, SPP1
19fanconi syndrome29.7CLCN5, LRP2
20vesicoureteral reflux29.7NAGLU, UMOD
21sensorineural hearing loss29.7SLC12A1, CASR, KCNJ1
22osteomalacia29.7CASR, PHEX, SLC34A3
23myeloma29.7SPP1, NAGLU, UMOD
24amelogenesis imperfecta nephrocalcinosis10.3
25amelogenesis imperfecta10.3
26nephrotic syndrome10.2
27down syndrome10.2
28sarcoidosis10.2
29proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis10.2
30primary hyperparathyroidism10.1
31diabetes insipidus10.1
32anorexia nervosa10.1
33kidney disease10.1
34thyroiditis10.1
35primary hyperoxaluria type 110.1
36amelogenesis imperfecta hypoplastic type, ig10.1
37hypomagnesemia 3, renal10.1
38hypophosphatemic rickets with hypercalciuria10.0SLC34A3
39hyperaldosteronism10.0CLCNKB, KCNJ1
40bartter disease10.0SLC12A1, CLCNKB, KCNJ1
41renal tubular acidosis, distal10.0CA2, SLC4A1
42bartter syndrome, type 210.0KCNJ1, SLC12A1
43graves' disease10.0LRP2, CASR
44bartter syndrome type 310.0KCNJ1, CLCNKB, SLC12A1
45fallopian tube cancer10.0NAGLU, CLCN5
46essential hypertension10.0SLC12A1, NAGLU
47hyperparathyroidism, neonatal10.0CASR, NR1I3
48polyhydramnios10.0KCNJ1, CLCNKB, SLC12A1
49hyperphosphatemia10.0SPP1, SLC34A1, CASR
50acute kidney tubular necrosis10.0UMOD, NAGLU

Graphical network of the top 20 diseases related to Nephrocalcinosis:



Diseases related to nephrocalcinosis

Clinical Features for Nephrocalcinosis

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Drugs & Therapeutics for Nephrocalcinosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Nephrocalcinosis

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Anatomical Context for Nephrocalcinosis

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32MalaCards
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MalaCards organs/tissues related to Nephrocalcinosis:

32
Kidney, Bone, Liver, Thyroid, Heart, Testes, T cells, Small intestine

Animal Models for Nephrocalcinosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Nephrocalcinosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.6CASR, PHEX, LRP2, SLC34A3, SLC26A1, CA2
2MP:00053909.5CA2, UMOD, PHEX, NAGLU, CLCN5, SLC12A1
3MP:00053869.4KCNJ1, CASR, PHEX, NAGLU, CLDN19, LRP2
4MP:00053879.2CASR, UMOD, PHEX, GRHPR, NAGLU, SLC12A1
5MP:00107689.2KCNJ1, CA2, CASR, PHEX, NR1I3, NAGLU
6MP:00053849.0CASR, PHEX, NR1I3, NAGLU, CLCN5, LRP2
7MP:00053788.9PHEX, UMOD, CASR, CA2, KCNJ1, NR1I3
8MP:00053678.6SPP1, KCNJ1, CA2, CASR, UMOD, PHEX
9MP:00053768.6AGXT, NR1I3, PHEX, UMOD, CASR, CA2

Publications for Nephrocalcinosis

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50PubMed
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Articles related to Nephrocalcinosis:

(show top 50)    (show all 494)
idTitleAuthorsYear
1
Prophylactic effect of coconut water (Cocos nucifera L.) on ethylene glycol induced nephrocalcinosis in male wistar rat. (23489503)
2013
2
Retention of fetuin-A in renal tubular lumen protects the kidney from nephrocalcinosis in rats. (23344571)
2013
3
Nephrocalcinosis in a patient with SjAPgren's syndrome/systemic lupus erythematosus. (22735216)
2012
4
Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation. (22734304)
2012
5
Impaired paracellular ion transport in the loop of Henle causes familial hypomagnesemia with hypercalciuria and nephrocalcinosis. (22731731)
2012
6
Nephrocalcinosis: a potential complication of bisphosphonate therapy in children. (22171838)
2011
7
Localization and mechanism of nephrocalcinosis in pseudo-Bartter's syndrome. (20393494)
2010
8
Nephrocalcinosis in preterm neonates. (18797936)
2010
9
The effect of sodium thiosulfate administration on nephrocalcinosis in a rat model. (19193134)
2009
10
A critical appraisal of the radiological evaluation of nephrocalcinosis. (17522474)
2007
11
Severe renal failure and nephrocalcinosis in anorexia nervosa. (16398639)
2006
12
Cellular congenital mesoblastic nephroma with contralateral medullary nephrocalcinosis. (15121709)
2004
13
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. (12720080)
2003
14
Neonatal nephrocalcinosis in association with glucose-galactose malabsorption. (12734749)
2003
15
Effectiveness of a traditional Chinese medicine, Wulingsan, in suppressing the development of nephrocalcinosis induced by a high phosphorus diet in young rats. (11685659)
2001
16
Bisphosphonates and nephrocalcinosis in a rabbit leg lengthening model: a histological and therapeutic comparison. (11589787)
2001
17
Does long-term administration of sodium thiosulphate inhibit progression to renal failure in nephrocalcinosis? (11733649)
2001
18
Microscopic nephrocalcinosis and hypercalciuria in nephrotic syndrome. (11112210)
2000
19
Physician-induced hypocalcaemia, nephrocalcinosis, and incomplete distal renal tubular acidosis. (10910456)
2000
20
Prematurity-associated nephrocalcinosis and kidney function in early childhood. (10603142)
1999
21
Observer reliability in grading nephrocalcinosis on ultrasound examinations in children. (9880623)
1999
22
Distal renal tubular acidosis with rickets and nephrocalcinosis. (9813939)
1998
23
Nephrocalcinosis in rabbits--correlation of ultrasound, computed tomography, pathology and renal function. (9426266)
1998
24
Nephrocalcinosis in a patient with primary hyperoxaluria type 2. (9090680)
1997
25
Diet-induced nephrocalcinosis in female rats is irreversible and is induced primarily before the completion of adolescence. (8558309)
1996
26
Ultrastructural study of tooth enamel with amelogenesis imperfecta in AI-nephrocalcinosis syndrome. (7554924)
1995
27
Hypercalcemia, hypercalciuria, medullar nephrocalcinosis, and renal insufficiency in a toddler with Down syndrome. (8580039)
1995
28
Nephrolithiasis and nephrocalcinosis in cerebrotendinous xanthomatosis: report of three siblings. (7737249)
1995
29
Nephrocalcinosis in a child with autosomal dominant polycystic kidney disease and a prolapsing ectopic ureterocele. (7491203)
1995
30
Nephrocalcinosis associated with primary aldosteronism. (7870238)
1994
31
Resolution of nephrocalcinosis associated with tumor lysis syndrome. (8155494)
1994
32
Hyperoxaluria is not a cause of nephrocalcinosis in phosphate-treated patients with hereditary hypophosphatemic rickets. (8396209)
1993
33
Erythrocytosis in type I renal tubular acidosis with nephrocalcinosis. (1317531)
1992
34
Erythrocytosis in hypophosphatemic rickets: irreversible complication due to nephrocalcinosis after vitamin D and phosphate therapy. (1665879)
1991
35
Nephrocalcinosis in SjAPgren's syndrome: a late sequela of renal tubular acidosis. (1865172)
1991
36
Renal cortical nephrocalcinosis: a manifestation of extrapulmonary Pneumocystis carinii infection in the acquired immunodeficiency syndrome. (2042655)
1991
37
Diet-induced calciuria and nephrocalcinosis in female rats. (1856039)
1991
38
Nephrocalcinosis without functional renal impairment in rats subjected to subacute moderate magnesium deficiency, and intervention studies on the mobilization of calcium deposits. (2133628)
1990
39
Recurrence of nephrocalcinosis after renal transplantation in an adult patient with primary hyperoxaluria type I. (2496356)
1989
40
Hypercalciuric Bartter syndrome: resolution of nephrocalcinosis with indomethacin. (2655392)
1989
41
Kidney function in rats with corticomedullary nephrocalcinosis: effects of alterations in dietary calcium and magnesium. (3612568)
1986
42
Unsuspected medullary nephrocalcinosis from furosemide administration: sonographic evaluation. (3924971)
1985
43
The effects of parathyroidectomy on the development of nephrocalcinosis in rats fed phosphate-supplemented and unsupplemented diets containing alpha protein. (6684887)
1983
44
Medullary nephrocalcinosis: sonographic evaluation. (6976712)
1982
45
Nephrocalcinosis in children. (7104567)
1982
46
The effect of dietary carbohydrates and other diet constituents on nephrocalcinosis in the rat. (504204)
1979
47
The effects of thyroid hormone on vitamin D-induced nephrocalcinosis. (4757505)
1973
48
Prevention by thyroxine of nephrocalcinosis in early magnesium deficiency in the rat. (4258450)
1972
49
Effects of the protein content of the diet on the development of nephrocalcinosis in rats. (5385063)
1970
50
Nephrolithiasis and nephrocalcinosis in children. (5635487)
1968

Genetic Variations for Nephrocalcinosis

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Expression for genes affiliated with Nephrocalcinosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nephrocalcinosis

Search GEO for disease gene expression data for Nephrocalcinosis.

Pathways for genes affiliated with Nephrocalcinosis

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53Reactome, 29KEGG, 49PharmGKB
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Compounds for genes affiliated with Nephrocalcinosis

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11DrugBank, 44Novoseek, 49PharmGKB, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Nephrocalcinosis according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1Methyclothiazide1110.6SLC12A1, CA2
2Quinethazone1110.6SLC12A1, CA2
3Trichlormethiazide1110.6SLC12A1, CA2
4glyoxylate4410.6AGXT, GRHPR
5Hydroflumethiazide1110.5CA2, SLC12A1
6hydrochlorothiazide44 49 28 11 2414.5CA2, CASR, CLDN16
7thiazide4410.5SLC12A1, CASR, CA2
8gentamicin44 1111.5LRP2, NAGLU, CASR
9cinacalcet44 28 1112.4CASR, NR1I3
10furosemide44 49 59 28 11 2415.4CA2, NAGLU, SLC12A1, SLC4A1
11foscarnet44 1111.4SLC34A1, SPP1
12gadolinium4410.4CASR, NR1I3
1325-hydroxyvitamin d4410.4CASR, LRP2, SPP1
14calcium oxalate4410.4UMOD, AGXT, NAGLU, SPP1
15spermine44 28 11 2413.4CASR, PHEX, NR1I3
16aminoglycosides4410.4NAGLU, LRP2
17urea44 11 2412.4CA2, UMOD, NAGLU, SLC12A1
18sulfate44 2411.4SLC26A1, SLC4A1, NAGLU, UMOD
19hydroxyapatite4410.3CASR, UMOD, SPP1
20neomycin4410.3SPP1, NR1I3, CASR
21citrate4410.3CA2, UMOD, NAGLU, SLC4A1, SPP1
22dids44 2811.3SLC4A1, CLCNKB
23nacl4410.3KCNJ1, CASR, UMOD, CLCNKB, SLC12A1
24bicarbonate4410.3CA2, SLC4A1, SLC26A1
251,25 dihydroxy vitamin d34410.2CASR, PHEX, NR1I3, SLC34A1, SPP1
26lysine4410.2KCNJ1, CA2, CASR, NR1I3, SLC4A1
27colchicine59 44 2 28 1114.2NAGLU, NR1I3, UMOD
28leucine4410.2CA2, CASR, PHEX, NAGLU, SLC4A1
29aspartate4410.2CA2, PHEX, AGXT, NAGLU, SPP1
30polyglycolic acid4410.2AGXT, GRHPR
31uric acid44 2411.2UMOD, NAGLU, SPP1
32phosphorus4410.1CASR, PHEX, NR1I3, NAGLU, SLC34A1, SPP1
33creatinine4410.1CA2, CASR, UMOD, NAGLU, CLCN5, SPP1
34heparin44 28 11 2413.1SPP1, LRP2, NAGLU, UMOD, CA2
35glutamate4410.1CA2, CASR, NR1I3, AGXT, SLC4A1, SPP1
36potassium44 11 2412.1KCNJ1, CASR, UMOD, NAGLU, CLCNKB, SLC12A1
37oxalate4410.1SPP1, UMOD, AGXT, GRHPR, NAGLU, SLC4A1
38cysteine4410.0CA2, CASR, UMOD, AGXT, NAGLU, SLC4A1
39calcitriol44 59 11 2413.0CA2, CASR, PHEX, NR1I3, LRP2, SLC34A1
40vitamin d4410.0CASR, PHEX, NR1I3, NAGLU, LRP2, SLC34A1
41alanine449.9KCNJ1, CA2, CASR, NR1I3, AGXT, NAGLU
42chloride449.9KCNJ1, CA2, CASR, CLCN5, CLCNKB, SLC12A1
43chlorine44 2410.9SLC12A1, CLCNKB, CLCN5
44cholesterol44 28 11 2412.9SPP1, SLC4A1, LRP2, NAGLU, NR1I3
45magnesium44 11 2411.6KCNJ1, CASR, UMOD, NR1I3, NAGLU, CLDN16
46sodium44 2410.6KCNJ1, CASR, UMOD, PHEX, NR1I3, NAGLU
47calcium44 49 11 2411.9GRHPR, AGXT, NR1I3, PHEX, UMOD, CASR

GO Terms for genes affiliated with Nephrocalcinosis

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16Gene Ontology
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Cellular components related to Nephrocalcinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:0163239.9SLC34A1, SLC4A1, CLDN19, UMOD, CA2
2apical part of cellGO:0451779.8CA2, CLCN5, SPP1
3integral to plasma membraneGO:0058879.8SLC34A1, SLC4A1, CLCNKB, CLCN5, PHEX, CASR
4plasma membraneGO:0058868.9CLDN16, PHEX, CASR, CA2, KCNJ1, CLCNKB

Biological processes related to Nephrocalcinosis according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate metabolic processGO:04648710.4AGXT, GRHPR
2phosphate ion transportGO:00681710.3SLC34A3, SLC34A1
3calcium-independent cell-cell adhesionGO:01633810.3CLDN19, CLDN16
4sodium ion transportGO:00681410.2SLC34A3, SLC34A1, SLC12A1
5positive regulation of bone resorptionGO:04578010.1SPP1, CA2
6excretionGO:00758810.1CLCNKB, CLCN5, CLDN16, GRHPR, UMOD, KCNJ1
7ion transportGO:00681110.0SLC26A1, SLC34A3, SLC34A1, SLC4A1, SLC12A1
8ion transmembrane transportGO:0342209.9CLCN5, CLCNKB, SLC12A1
9transmembrane transportGO:0550859.8CLCN5, CLCNKB, SLC12A1, SLC4A1, SLC34A1, SLC34A3
10small molecule metabolic processGO:0442819.6CA2, AGXT, GRHPR, NAGLU, LRP2, SLC4A1

Molecular functions related to Nephrocalcinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated chloride channel activityGO:00524710.3CLCNKB, CLCN5
2sodium-dependent phosphate transmembrane transporter activityGO:01532110.2SLC34A3, SLC34A1
3chloride transmembrane transporter activityGO:01510810.1SLC26A1, SLC4A1
4anion:anion antiporter activityGO:0153019.9SLC26A1, SLC4A1

Products for genes affiliated with Nephrocalcinosis

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Sources for Nephrocalcinosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
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39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
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57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet