MCID: NPH003
MIFTS: 49

Nephrocalcinosis malady

Rare diseases, Metabolic diseases, Nephrological diseases categories
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Summaries for Nephrocalcinosis

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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 based summary: 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:65 Nephrocalcinosis, once known as Albright\'s calcinosis after Fuller Albright, or \"Anderson-Carr\"... more...

Aliases & Classifications for Nephrocalcinosis

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Nephrocalcinosis, Aliases & Descriptions:

Name: Nephrocalcinosis 8 42 10 44 62
 
Hypercalcemic Nephropathy 42 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:12679
NCIt39 C84918
MeSH34 D009397

Related Diseases for Nephrocalcinosis

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

(show top 50)    (show all 124)
idRelated DiseaseScoreTop Affiliating Genes
1rickets31.0CLCN5
2nephrolithiasis30.8SLC34A1, CLCN5
3x-linked hypophosphatemia30.4SLC34A1, CLCN5
4hypophosphatemia30.4CLCN5, SLC34A1
5primary hyperoxaluria30.2SLC4A1, CLCN5, LRP2
6proteinuria30.1CLCN5, LRP2
7dent's disease30.0CLCNKB, CLCN5, LRP2
8chronic kidney failure29.9CLDN16, CLCN5
9fanconi syndrome29.9LRP2, CLCN5
10renal tubular acidosis10.7
11hypercalcemia10.5
12hyperparathyroidism10.4
13amelogenesis imperfecta10.4
14amelogenesis imperfecta hypoplastic type, ig10.4
15nephrotic syndrome10.3
16cystic fibrosis10.2
17down syndrome10.2
18sarcoidosis10.2
19proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis10.2
20diabetes insipidus10.2
21nephrogenic diabetes insipidus10.2
22anorexia nervosa10.2
23primary hyperparathyroidism10.2
24glucose-galactose malabsorption10.2
25medullary sponge kidney10.2
26erythrocytosis10.2
27hypokalemia10.1
28hypoparathyroidism10.1
29thyroiditis10.1
30primary hyperoxaluria type 110.1
31blue diaper syndrome10.1
32hypomagnesemia 3, renal10.1
33amelogenesis imperfecta, type ig10.1
34congestive heart failure10.0
35glomerulonephritis10.0
36leukemia10.0
37osteoporosis10.0
38polycystic kidney disease10.0
39congenital mesoblastic nephroma10.0
40hyperthyroidism10.0
41hypothyroidism10.0
42kidney disease10.0
43primary hyperoxaluria type 210.0
44short syndrome10.0
45hypocalcemia, autosomal dominant10.0
46hypomagnesemia 1, intestinal10.0
47mesoblastic nephroma10.0
48bartter disease10.0CLCNKB, CLCN5
49acute lymphoblastic leukemia9.9
50arthritis9.9

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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Drug clinical trials:

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Search NIH Clinical Center for Nephrocalcinosis

Genetic Tests for Nephrocalcinosis

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Anatomical Context for Nephrocalcinosis

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MalaCards organs/tissues related to Nephrocalcinosis:

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

Animal Models for Nephrocalcinosis or affiliated genes

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MGI Mouse Phenotypes related to Nephrocalcinosis:

36
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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Articles related to Nephrocalcinosis:

(show top 50)    (show all 503)
idTitleAuthorsYear
1
Pregnancy outcome in Women with Autosomal dominant Hypocalcaemic Hypercalciuric Nephrocalcinosis. (24428838)
2014
2
Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice. (24732453)
2014
3
Pseudoxanthoma elasticum and nephrocalcinosis: Incidental finding or an infrequent manifestation? (24860756)
2014
4
Development of an animal model of nephrocalcinosis via selective dietary sodium and chloride depletion. (23174703)
2013
5
Ocular involvement in a child with medullary nephrocalcinosis. (22760414)
2013
6
ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus. (22805396)
2012
7
An unusual cause of acute renal failure in a patient with surgical hypoparathyroidism: nephrocalcinosis. (22083502)
2012
8
A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets. (21848011)
2011
9
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome. (21597970)
2011
10
Furosemide-associated nephrocalcinosis and renal cysts. (21841841)
2011
11
Localization and mechanism of nephrocalcinosis in pseudo-Bartter's syndrome. (20393494)
2010
12
Congenital hypothyroidism and nephrocalcinosis. (20371898)
2010
13
Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome. (18384141)
2008
14
Report of a family with two different hereditary diseases leading to early nephrocalcinosis. (17899212)
2008
15
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
16
Nephrocalcinosis in phosphate nephropathy following oral phosphate purgative: a role for underlying subclinical primary hyperparathyroidism? (18037110)
2007
17
Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study. (15856319)
2005
18
Absorptive hyperoxaluria leads to an increased risk for urolithiasis or nephrocalcinosis in cystic fibrosis. (16129205)
2005
19
A 3-year-old child with proteinuria and nephrocalcinosis. Suspicion of Dent disease. (15365802)
2004
20
Nephrocalcinosis: molecular insights into calcium precipitation within the kidney. (15027893)
2004
21
Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. (12014995)
2002
22
Distal renal tubular acidosis associated with hypercalcemia and nephrocalcinosis in an infant. (12506914)
2002
23
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. (10878661)
2000
24
Persistent nephrocalcinosis for acetazolamide and furosemide in a pediatric patient. (11096312)
2000
25
Comparison of various phosphate salts as the dietary phosphorus source on nephrocalcinosis and kidney function in rats. (10683811)
1999
26
Oxalate nephrocalcinosis in renal tubular dysgenesis. (10671031)
1999
27
Nephrocalcinosis in newborn. (7793250)
1995
28
Medullary nephrocalcinosis: sonographic findings in adult patients. (7756819)
1995
29
Ultrastructural study of tooth enamel with amelogenesis imperfecta in AI-nephrocalcinosis syndrome. (7554924)
1995
30
Renal magnesium wasting with hypercalciuria, nephrocalcinosis and ocular disorders. (7777115)
1995
31
Acetazolamide-induced nephrocalcinosis. (7950830)
1994
32
Nephrocalcinosis associated with primary aldosteronism. (7870238)
1994
33
Renal function in hyperparathyroidism with complicating nephrocalcinosis. (8453206)
1993
34
Hypercalciuria and nephrocalcinosis in children. (8374638)
1993
35
Inbred strains of rats have differential sensitivity to dietary phosphorus-induced nephrocalcinosis. (1640262)
1992
36
Insulin dependent diabetes mellitus accompanied by nephrocalcinosis and renal failure. (1446654)
1992
37
Nephrocalcinosis in the rat: a literature review. (1620876)
1992
38
Influence of dietary calcium:phosphorus ratio on mineral excretion and nephrocalcinosis in female rats. (3183767)
1988
39
Kidney function in rats with corticomedullary nephrocalcinosis: effects of alterations in dietary calcium and magnesium. (3612568)
1986
40
Nephrocalcinosis, hypercalcemia, sarcoidosis or primary hyperparathyroidism? (3983783)
1985
41
The effects of parathyroidectomy on the development of nephrocalcinosis in rats fed phosphate-supplemented and unsupplemented diets containing alpha protein. (6684887)
1983
42
Nephrocalcinosis demonstrated by ultrasound and CT. (6844054)
1983
43
Environmental zinc and cadmium pollution associated with generalized osteochondrosis, osteoporosis, and nephrocalcinosis in horses. (7056680)
1982
44
Nephrocalcinosis in angioimmunoblastic lymphadenopathy. A case report. (7102371)
1982
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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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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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 motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
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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Compounds related to Nephrocalcinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcitriol44 61 24 1112.3SLC34A1, LRP2
2dids44 2810.2CLCNKB, SLC4A1
3folate449.1SLC4A1, LRP2
4chlorine44 2410.0CLCNKB, CLCN5
5chloride448.4SLC4A1, SLC34A1, CLCNKB, CLCN5
6magnesium44 24 1110.3CLCNKB, CLDN16, CLDN19, LRP2
7sodium44 249.2LRP2, CLCNKB, SLC34A1, SLC4A1
8calcium44 50 24 1110.3LRP2, CLDN19, CLCN5, CLDN16, CLCNKB, SLC34A1

GO Terms for genes affiliated with Nephrocalcinosis

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet