MCID: NPH003
MIFTS: 52

Nephrocalcinosis malady

Nephrological category

Summaries for Nephrocalcinosis

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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 renal tubular acidosis, distal. 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 heart, small intestine and kidney, and related mouse phenotypes are digestive/alimentary and skeleton.

Wikipedia:64 Nephrocalcinosis, once known as Albright\'s calcinosis after Fuller Albright, or \"Anderson-Carr\"... more...

Aliases & Classifications for Nephrocalcinosis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH
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Classifications:

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


Aliases & Descriptions:

nephrocalcinosis 8 43 10 45 61
hypercalcemic nephropathy 43 61


External Ids:

Disease Ontology8 DOID:12679
NCIt40 C84918
MeSH35 D009397

Related Diseases for Nephrocalcinosis

Sources:
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 134)
idRelated DiseaseScoreTop Affiliating Genes
1renal tubular acidosis30.9CA2, SLC4A1
2renal tubular acidosis, distal30.7CA2, SLC4A1
3hypercalcemia30.6NR1I3, CASR
4nephrolithiasis30.6CASR, UMOD, NR1I3, AGXT, GRHPR, CLDN16
5rickets30.6PHEX, CLCN5, SLC34A3
6primary hyperoxaluria30.5AGXT, GRHPR
7dent's disease30.3CLCN5, CLCNKB, LRP2
8cystic fibrosis30.3CLCN5, UMOD, CA2, KCNJ1
9hypophosphatemia30.2PHEX, CLCN5, SLC34A1, SLC34A3
10nephrogenic diabetes insipidus30.2SLC12A1, CASR
11hypoparathyroidism30.1CASR, NR1I3, NAGLU
12hypokalemia30.1KCNJ1, CASR, CLCNKB, SLC12A1
13oculocerebrorenal syndrome30.0NAGLU, LRP2
14osteoporosis30.0SPP1, NR1I3, CASR, CA2
15fanconi syndrome29.7CLCN5, LRP2
16vesicoureteral reflux29.7NAGLU, UMOD
17sensorineural hearing loss29.7SLC12A1, CASR, KCNJ1
18osteomalacia29.7CASR, PHEX, SLC34A3
19x-linked hypophosphatemia29.7SLC34A3, SLC34A1, CLCN5, PHEX
20n syndrome10.7
21amelogenesis imperfecta nephrocalcinosis10.5
22amelogenesis imperfecta10.3
23proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis10.2
24primary hyperparathyroidism10.1
25diabetes insipidus10.1
26anorexia nervosa10.1
27short syndrome10.1
28medullary sponge kidney10.1
29glucose-galactose malabsorption10.1
30erythrocytosis10.1
31amelogenesis imperfecta hypoplastic type, ig10.1
32blue diaper syndrome10.1
33hypomagnesemia 3, renal10.1
34cushing's syndrome10.0
35polycystic kidney disease10.0
36wilson disease10.0
37micro syndrome10.0
38hypocalcemia, autosomal dominant10.0
39kid syndrome10.0
40hypercalcemia, infantile10.0
41hypomagnesemia 1, intestinal10.0
42mesoblastic nephroma10.0
43hypophosphatemic rickets with hypercalciuria10.0SLC34A3
44calcinosis10.0CASR, SPP1
45hyperaldosteronism10.0CLCNKB, KCNJ1
46bartter disease10.0SLC12A1, CLCNKB, KCNJ1
47bartter syndrome, type 210.0KCNJ1, SLC12A1
48graves' disease10.0LRP2, CASR
49bartter syndrome type 310.0KCNJ1, CLCNKB, SLC12A1
50fallopian tube cancer10.0NAGLU, CLCN5

Graphical network of the top 20 diseases related to Nephrocalcinosis:



Diseases related to nephrocalcinosis

Clinical Features for Nephrocalcinosis

Drugs & Therapeutics for Nephrocalcinosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Nephrocalcinosis

Drug clinical trials:

Search ClinicalTrials for Nephrocalcinosis

Search NIH Clinical Center for Nephrocalcinosis

Search CenterWatch for Nephrocalcinosis

Genetic Tests for Nephrocalcinosis

Anatomical Context for Nephrocalcinosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Nephrocalcinosis:

33
Heart, Small intestine, Kidney, Liver, Thyroid, T cells, B lymphoblasts, B cells

Animal Models for Nephrocalcinosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Nephrocalcinosis

Sources:
51PubMed
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Articles related to Nephrocalcinosis:

(show top 50)    (show all 493)
idTitleAuthorsYear
1
An infant with multiple subcutaneous nodules, hypercalcemia, and nephrocalcinosis. (23371047)
2013
2
Lanthanum carbonate inhibits intestinal oxalate absorption and prevents nephrocalcinosis after oxalate loading in rats. (23228382)
2013
3
Nephrocalcinosis and hypokalemia in a patient with primary SjAPgren's syndrome. (21120495)
2013
4
Correction: Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis. (24137494)
2013
5
Histopathological patterns of nephrocalcinosis: a phosphate type can be distinguished from a calcium type. (21804087)
2012
6
Distal renal tubular acidosis, hypokalemic paralysis, nephrocalcinosis, primary hypothyroidism, growth retardation, osteomalacia and osteoporosis leading to pathological fracture: a case report. (22043434)
2011
7
The tubular epithelium in the initiation and course of intratubular nephrocalcinosis. (20680256)
2010
8
Nephrocalcinosis: re-defined in the era of endourology. (21057942)
2010
9
Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: a possible new autosomal recessive syndrome. (17663471)
2007
10
Bilateral nephrocalcinosis associated with distal renal tubular acidosis. (15704670)
2005
11
Severe renal failure and nephrocalcinosis in anorexia nervosa. (15963021)
2005
12
Nephrocalcinosis in very low birth weight infants: a single center experience. (16083166)
2004
13
The concentrations and ratio of dietary calcium and phosphorus influence development of nephrocalcinosis in female rats. (11823586)
2002
14
Medullary nephrocalcinosis associated with long-term furosemide abuse in adults. (11733620)
2001
15
Comparison of various phosphate salts as the dietary phosphorus source on nephrocalcinosis and kidney function in rats. (10683811)
1999
16
Diminished kidney function and nephrocalcinosis in rats fed a magnesium-deficient diet. (9819712)
1998
17
Case 4: Acute oliguric renal failure caused by hyperparathyroid hypercalcemic nephrocalcinosis nephropathy. (9725327)
1998
18
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). (9062355)
1997
19
Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. (9328929)
1997
20
Nephrocalcinosis is associated with renal tubular acidosis in children with X-linked hypophosphatemia. (8545232)
1996
21
Diet-induced nephrocalcinosis in female rats. (8914968)
1996
22
A toddler with Down syndrome, hypercalcaemia, hypercalciuria, medullary nephrocalcinosis and renal failure. (8703726)
1996
23
Nephrocalcinosis and prematurity: importance of urate and oxalate excretion. (7753255)
1995
24
Acetazolamide-associated nephrocalcinosis in a transplant kidney. (7604446)
1995
25
A toddler with Down syndrome, hypercalcaemia, hypercalciuria, medullary nephrocalcinosis and renal failure. (7742209)
1995
26
Acetazolamide-induced nephrocalcinosis. (7950830)
1994
27
Nephrocalcinosis complicating medical treatment of posthemorrhagic hydrocephalus. (1622512)
1992
28
Phosphorus-induced nephrocalcinosis in female rats: a study on regression and clinical abnormalities. (1921326)
1991
29
Pyramidal hyperechogenicity in autosomal recessive polycystic kidney disease resembling medullary nephrocalcinosis. (1870923)
1991
30
Nephrocalcinosis, hypercalciuria and elevated serum levels of 1,25-dihydroxyvitamin D in children. Possible link to vitamin D toxicity. (2386055)
1990
31
An in vitro model of nephrocalcinosis using rabbit inner medullary collecting tubular cell culture. (2730643)
1989
32
Influence of dietary calcium:phosphorus ratio on mineral excretion and nephrocalcinosis in female rats. (3183767)
1988
33
Microscopic nephrocalcinosis in cystic fibrosis. (3393180)
1988
34
Nephrocalcinosis, hypercalcemia, sarcoidosis or primary hyperparathyroidism? (3983783)
1985
35
Nephrocalcinosis due to primary hyperoxaluria: case report from Saudi Arabia. (2418774)
1985
36
Age and the development of nephrocalcinosis induced by injections of neutral phosphate in rats. (6435400)
1984
37
The protective effect of sulfur-containing steroids against nephrocalcinosis induced by mercuric chloride in rats. (6220940)
1983
38
Nephrocalcinosis occurring with the nephrotic syndrome in infancy. (7319780)
1981
39
CT demonstration of cortical nephrocalcinosis in congenital oxalosis. (7454420)
1980
40
Case profile: nephrocalcinosis with ureterocalcinosis secondary to medullary sponge kidney. (7361370)
1980
41
Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings. (668721)
1978
42
Nephrolithiasis and nephrocalcinosis after renal transplantation: a case report and review of the literature. (765494)
1976
43
Protective effect of thyrocalcitonin against nephrocalcinosis induced by parathyroid hormone in rats. (4455529)
1974
44
Editorial: Nephrocalcinosis and renal tubular acidosis. (4138714)
1974
45
Renal tubular acidosis and nephrocalcinosis: diagnosis and clinical management. (4819363)
1974
46
Effects of parathyroidectomy on the development of nephrocalcinosis and calcium, phosphorus and magnesium balance in rats. (5089685)
1971
47
Juvenile cirrhosis of the liver and nephrocalcinosis. (5094995)
1971
48
Medullary sponge kidney in the radiological differential diagnosis of nephrocalcinosis. (5587802)
1967
49
INVESTIGATION OF NEPHROCALCINOSIS AND NEPHROLITHIASIS. (14318720)
1965
50
Skeletal changes and nephrocalcinosis in a case of athyreosis. (13994762)
1962

Genetic Variations for Nephrocalcinosis

Expression for genes affiliated with Nephrocalcinosis

Sources:
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

Sources:
54Reactome, 30KEGG, 50PharmGKB
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Compounds for genes affiliated with Nephrocalcinosis

Sources:
11DrugBank, 45Novoseek, 50PharmGKB, 29IUPHAR, 24HMDB, 60Tocris Bioscience, 2BitterDB
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Compounds related to Nephrocalcinosis according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1Methyclothiazide1110.6CA2, SLC12A1
2Quinethazone1110.6SLC12A1, CA2
3Trichlormethiazide1110.6SLC12A1, CA2
4glyoxylate4510.6AGXT, GRHPR
5Hydroflumethiazide1110.5SLC12A1, CA2
6hydrochlorothiazide45 50 29 11 2414.5CLDN16, CASR, CA2
7thiazide4510.5CA2, SLC12A1, CASR
8gentamicin45 1111.5NAGLU, CASR, LRP2
9gadolinium4510.4NR1I3, CASR
10furosemide45 50 60 29 11 2415.4CA2, SLC4A1, NAGLU, SLC12A1
11foscarnet45 1111.4SLC34A1, SPP1
12cinacalcet45 29 1112.4NR1I3, CASR
1325-hydroxyvitamin d4510.4LRP2, CASR, SPP1
14calcium oxalate4510.4SPP1, UMOD, AGXT, NAGLU
15spermine45 29 11 2413.4CASR, PHEX, NR1I3
16aminoglycosides4510.4LRP2, NAGLU
17urea45 11 2412.4SLC12A1, NAGLU, UMOD, CA2
18sulfate45 2411.4UMOD, SLC26A1, SLC4A1, NAGLU
19hydroxyapatite4510.3CASR, UMOD, SPP1
20neomycin4510.3NR1I3, SPP1, CASR
21citrate4510.3NAGLU, SLC4A1, CA2, SPP1, UMOD
22dids45 2911.3SLC4A1, CLCNKB
23nacl4510.3UMOD, CASR, KCNJ1, CLCNKB, SLC12A1
24bicarbonate4510.3CA2, SLC26A1, SLC4A1
251,25 dihydroxy vitamin d34510.2CASR, NR1I3, SLC34A1, PHEX, SPP1
26lysine4510.2NR1I3, CASR, CA2, KCNJ1, SLC4A1
27colchicine60 45 2 29 1114.2UMOD, NAGLU, NR1I3
28leucine4510.2SLC4A1, NAGLU, PHEX, CASR, CA2
29aspartate4510.2AGXT, PHEX, CA2, SPP1, NAGLU
30polyglycolic acid4510.2AGXT, GRHPR
31uric acid45 2411.2NAGLU, UMOD, SPP1
32phosphorus4510.1SLC34A1, CASR, PHEX, NR1I3, NAGLU, SPP1
33creatinine4510.1CA2, CASR, NAGLU, SPP1, CLCN5, UMOD
34heparin45 29 11 2413.1SPP1, UMOD, LRP2, CA2, NAGLU
35glutamate4510.1NR1I3, CASR, CA2, SPP1, SLC4A1, AGXT
36potassium45 11 2412.1SLC4A1, SLC12A1, CLCNKB, UMOD, CASR, KCNJ1
37oxalate4510.1SPP1, SLC26A1, SLC4A1, NAGLU, GRHPR, AGXT
38cysteine4510.0CA2, CASR, UMOD, AGXT, NAGLU, SPP1
39calcitriol45 60 11 2413.0SPP1, NR1I3, PHEX, CASR, CA2, SLC34A1
40vitamin d4510.0NAGLU, SPP1, PHEX, CASR, LRP2, SLC34A1
41alanine459.9KCNJ1, CA2, NR1I3, AGXT, SLC4A1, NAGLU
42chloride459.9CASR, CLCN5, SLC12A1, SLC4A1, SLC34A1, CA2
43chlorine45 2410.9SLC12A1, CLCN5, CLCNKB
44cholesterol45 29 11 2412.9NAGLU, LRP2, NR1I3, SLC4A1, SPP1
45magnesium45 11 2411.6NAGLU, CLDN19, KCNJ1, SPP1, CLDN16, UMOD
46sodium45 2410.6KCNJ1, PHEX, NR1I3, SLC34A1, CASR, UMOD
47calcium45 50 11 2411.9NAGLU, CLDN16, CLCNKB, CLDN19, CLCN5, LRP2

GO Terms for genes affiliated with Nephrocalcinosis

Sources:
16Gene Ontology
See all sources

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:0451779.8SPP1, CLCN5, CA2
3integral to plasma membraneGO:0058879.8CASR, PHEX, CLCN5, CLCNKB, SLC34A1, SLC4A1
4plasma membraneGO:0058868.9KCNJ1, CA2, CASR, PHEX, CLDN16, SLC34A3

Biological processes related to Nephrocalcinosis according to GeneCards/GeneDecks:

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

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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  • Proteins
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Sources for Nephrocalcinosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet