MCID: NPH003
MIFTS: 48

Nephrocalcinosis malady

Rare diseases, Nephrological diseases categories

Summaries for Nephrocalcinosis

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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 rickets and nephrolithiasis. An important gene associated with Nephrocalcinosis is CLDN16 (claudin 16), and among its related pathways are Cell adhesion molecules (CAMs) and Cell junction organization. The compounds calcitriol and dids have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and liver, and related mouse phenotypes are homeostasis/metabolism and renal/urinary system.

Wikipedia:66 Nephrocalcinosis, once known as Albright\'s calcinosis after Fuller Albright, or \"Anderson-Carr\"... more...

Aliases & Classifications for Nephrocalcinosis

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH
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Classifications:

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


Aliases & Descriptions:

nephrocalcinosis 9 44 11 46 63
hypercalcemic nephropathy 44 63


External Ids:

Disease Ontology9 DOID:12679
NCIt41 C84918
MeSH36 D009397

Related Diseases for Nephrocalcinosis

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18GeneCards, 19GeneDecks
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Diseases related to Nephrocalcinosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 119)
idRelated DiseaseScoreTop Affiliating Genes
1rickets30.7CLCN5
2nephrolithiasis30.5CLCN5, SLC34A1, CLCNKB, CLDN16
3primary hyperoxaluria30.4LRP2, CLCN5, SLC4A1
4x-linked hypophosphatemia30.3SLC34A1, CLCN5
5proteinuria30.3LRP2, CLCN5
6dent's disease30.3CLCN5, LRP2, CLCNKB
7hypophosphatemia30.3SLC34A1, CLCN5
8fanconi syndrome29.8LRP2, CLCN5
9renal tubular acidosis10.6
10hypercalcemia10.5
11hyperparathyroidism10.3
12amelogenesis imperfecta10.3
13amelogenesis imperfecta hypoplastic type, ig10.3
14nephrotic syndrome10.3
15down syndrome10.2
16sarcoidosis10.2
17proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis10.2
18cystic fibrosis10.2
19diabetes insipidus10.2
20anorexia nervosa10.2
21nephrogenic diabetes insipidus10.2
22glucose-galactose malabsorption10.2
23medullary sponge kidney10.2
24erythrocytosis10.2
25hypokalemia10.1
26primary hyperparathyroidism10.1
27hypoparathyroidism10.1
28thyroiditis10.1
29primary hyperoxaluria type 110.1
30blue diaper syndrome10.1
31hypomagnesemia 3, renal10.1
32amelogenesis imperfecta, type ig10.1
33polycystic kidney disease10.0
34congenital mesoblastic nephroma10.0
35congestive heart failure10.0
36glomerulonephritis10.0
37hyperthyroidism10.0
38hypothyroidism10.0
39kidney disease10.0
40leukemia10.0
41osteoporosis10.0
42primary hyperoxaluria type 210.0
43short syndrome10.0
44hypocalcemia, autosomal dominant10.0
45hypomagnesemia 1, intestinal10.0
46mesoblastic nephroma10.0
47chronic kidney failure10.0CLCN5, CLDN16
48bartter disease10.0CLCNKB, CLCN5
49williams-beuren syndrome9.9
50menkes disease9.9

Graphical network of the top 20 diseases related to Nephrocalcinosis:



Diseases related to nephrocalcinosis

Symptoms for Nephrocalcinosis

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Drugs & Therapeutics for Nephrocalcinosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Nephrocalcinosis

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Search CenterWatch for Nephrocalcinosis

Genetic Tests for Nephrocalcinosis

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Anatomical Context for Nephrocalcinosis

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34MalaCards
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MalaCards organs/tissues related to Nephrocalcinosis:

34
Kidney, Bone, Liver, Thyroid, Heart, Testes, T cells, Small intestine

Animal Models for Nephrocalcinosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Nephrocalcinosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0CLCN5, CLDN16, SLC34A1, SLC4A1, LRP2
2MP:00053677.7SLC4A1, SLC34A1, CLDN16, CLCN5, LRP2

Publications for Nephrocalcinosis

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53PubMed
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Articles related to Nephrocalcinosis:

(show top 50)    (show all 487)
idTitleAuthorsYear
1
Pregnancy outcome in Women with Autosomal dominant Hypocalcaemic Hypercalciuric Nephrocalcinosis. (24428838)
2014
2
Development of an animal model of nephrocalcinosis via selective dietary sodium and chloride depletion. (23174703)
2013
3
Ocular involvement in a child with medullary nephrocalcinosis. (22760414)
2013
4
ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus. (22805396)
2012
5
An unusual cause of acute renal failure in a patient with surgical hypoparathyroidism: nephrocalcinosis. (22083502)
2012
6
A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets. (21848011)
2011
7
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome. (21597970)
2011
8
Furosemide-associated nephrocalcinosis and renal cysts. (21841841)
2011
9
Localization and mechanism of nephrocalcinosis in pseudo-Bartter's syndrome. (20393494)
2010
10
Congenital hypothyroidism and nephrocalcinosis. (20371898)
2010
11
Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome. (18384141)
2008
12
Report of a family with two different hereditary diseases leading to early nephrocalcinosis. (17899212)
2008
13
Pathogenesis of nephrocalcinosis after sodium phosphate catharsis to prepare for colonoscopy: Intestinal phosphate absorption and its effect on urine mineral and electrolyte excretion. (17169633)
2007
14
Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study. (15856319)
2005
15
Absorptive hyperoxaluria leads to an increased risk for urolithiasis or nephrocalcinosis in cystic fibrosis. (16129205)
2005
16
A 3-year-old child with proteinuria and nephrocalcinosis. Suspicion of Dent disease. (15365802)
2004
17
Nephrocalcinosis: molecular insights into calcium precipitation within the kidney. (15027893)
2004
18
Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. (12014995)
2002
19
Distal renal tubular acidosis associated with hypercalcemia and nephrocalcinosis in an infant. (12506914)
2002
20
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. (10878661)
2000
21
Oxalosis with nephrocalcinosis. (10607783)
2000
22
Persistent nephrocalcinosis for acetazolamide and furosemide in a pediatric patient. (11096312)
2000
23
Comparison of various phosphate salts as the dietary phosphorus source on nephrocalcinosis and kidney function in rats. (10683811)
1999
24
Oxalate nephrocalcinosis in renal tubular dysgenesis. (10671031)
1999
25
Nephrocalcinosis in newborn. (7793250)
1995
26
Medullary nephrocalcinosis: sonographic findings in adult patients. (7756819)
1995
27
Ultrastructural study of tooth enamel with amelogenesis imperfecta in AI-nephrocalcinosis syndrome. (7554924)
1995
28
Renal magnesium wasting with hypercalciuria, nephrocalcinosis and ocular disorders. (7777115)
1995
29
Acetazolamide-induced nephrocalcinosis. (7950830)
1994
30
Nephrocalcinosis associated with primary aldosteronism. (7870238)
1994
31
Renal function in hyperparathyroidism with complicating nephrocalcinosis. (8453206)
1993
32
Hypercalciuria and nephrocalcinosis in children. (8374638)
1993
33
Inbred strains of rats have differential sensitivity to dietary phosphorus-induced nephrocalcinosis. (1640262)
1992
34
Insulin dependent diabetes mellitus accompanied by nephrocalcinosis and renal failure. (1446654)
1992
35
Nephrocalcinosis in the rat: a literature review. (1620876)
1992
36
Influence of dietary calcium:phosphorus ratio on mineral excretion and nephrocalcinosis in female rats. (3183767)
1988
37
Kidney function in rats with corticomedullary nephrocalcinosis: effects of alterations in dietary calcium and magnesium. (3612568)
1986
38
Nephrocalcinosis, hypercalcemia, sarcoidosis or primary hyperparathyroidism? (3983783)
1985
39
Age and the development of nephrocalcinosis induced by injections of neutral phosphate in rats. (6435400)
1984
40
The effects of parathyroidectomy on the development of nephrocalcinosis in rats fed phosphate-supplemented and unsupplemented diets containing alpha protein. (6684887)
1983
41
Nephrocalcinosis demonstrated by ultrasound and CT. (6844054)
1983
42
Environmental zinc and cadmium pollution associated with generalized osteochondrosis, osteoporosis, and nephrocalcinosis in horses. (7056680)
1982
43
Nephrocalcinosis in angioimmunoblastic lymphadenopathy. A case report. (7102371)
1982
44
Nephrocalcinosis occurring with the nephrotic syndrome in infancy. (7319780)
1981
45
Nephrocalcinosis and nephrolithiasis in children. (627116)
1978
46
Prevention by thyroxine of nephrocalcinosis in early magnesium deficiency in the rat. (4258450)
1972
47
Medullary sponge kidney in the radiological differential diagnosis of nephrocalcinosis. (5587802)
1967
48
EXPERIMENTAL NEPHROCALCINOSIS. A BIOCHEMICAL AND MORPHOLOGIC STUDY. (14260243)
1965
49
INVESTIGATION OF NEPHROCALCINOSIS AND NEPHROLITHIASIS. (14318720)
1965
50
RADIOLOGIC SEMINAR XXXII: NEPHROCALCINOSIS. (14216604)
1964

Variations for Nephrocalcinosis

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Expression for genes affiliated with Nephrocalcinosis

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2BioGPS, 16Gene 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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51PathCards, 31KEGG, 56Reactome, 61Thomson Reuters, 54QIAGEN
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Pathways related to Nephrocalcinosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6CLDN19, CLDN16
2
Show member pathways
9.6CLDN19, CLDN16
39.6CLDN16, CLDN19
4
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
9.6CLDN16, CLDN19
59.6CLDN16, CLDN19
69.6CLDN16, CLDN19
7
Show member pathways
9.2SLC4A1, CLCNKB
8
Show member pathways
9.1CLCNKB, CLCN5
9
Show member pathways
9.1CLCN5, CLCNKB
10
Show member pathways
8.2SLC4A1, SLC34A1, CLCNKB, CLCN5

Compounds for genes affiliated with Nephrocalcinosis

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46Novoseek, 62Tocris Bioscience, 25HMDB, 12DrugBank, 30IUPHAR, 52PharmGKB
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Compounds related to Nephrocalcinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcitriol46 62 25 1212.3SLC34A1, LRP2
2dids46 3010.2CLCNKB, SLC4A1
3folate469.1SLC4A1, LRP2
4chlorine46 2510.0CLCNKB, CLCN5
5chloride468.4SLC4A1, SLC34A1, CLCNKB, CLCN5
6magnesium46 25 1210.3CLCNKB, CLDN16, CLDN19, LRP2
7sodium46 259.2LRP2, CLCNKB, SLC34A1, SLC4A1
8calcium46 52 25 1210.3LRP2, CLDN19, CLCN5, CLDN16, CLCNKB, SLC34A1

GO Terms for genes affiliated with Nephrocalcinosis

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17Gene Ontology
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Cellular components related to Nephrocalcinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tight junctionGO:0059239.3CLDN16, CLDN19
2brush border membraneGO:0315269.3SLC34A1, LRP2
3endosomeGO:0057689.3SLC34A1, LRP2
4basolateral plasma membraneGO:0163239.2SLC4A1, SLC34A1, CLDN19
5integral component of plasma membraneGO:0058878.3CLCN5, CLCNKB, SLC34A1, SLC4A1
6plasma membraneGO:0058867.6LRP2, CLDN16, CLCNKB, SLC34A1, SLC4A1

Biological processes related to Nephrocalcinosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1calcium-independent cell-cell adhesionGO:0163389.7CLDN19, CLDN16
2chloride transmembrane transportGO:19024769.5SLC4A1, CLCN5
3ion transportGO:0068119.2SLC4A1, SLC34A1
4endocytosisGO:0068979.2CLCN5, LRP2
5ion transmembrane transportGO:0342209.1CLCNKB, CLCN5
6excretionGO:0075888.9CLCNKB, CLDN16, CLCN5
7transmembrane transportGO:0550858.3SLC4A1, SLC34A1, CLCNKB, CLCN5

Molecular functions related to Nephrocalcinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.6CLDN16, CLDN19
2voltage-gated chloride channel activityGO:0052478.8CLCNKB, CLCN5

Products for genes affiliated with Nephrocalcinosis

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Sources for Nephrocalcinosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet