Summaries for Nephrocalcinosis

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30NIH Rare Diseases, 44Wikipedia, 22MalaCards
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NIH Rare Diseases: 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.30

MalaCards: Nephrocalcinosis, also known as nephrocalcinosis (disorder), is related to hypomagnesemia and hypercalciuria. An important gene associated with Nephrocalcinosis is CLDN16 (claudin 16), and among its related pathways are Selected targets of HNF1 and Hepatic ABC Transporters. The compounds calcium oxalate and Methyclothiazide have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related mouse phenotypes are behavior/neurological and digestive/alimentary.

Wikipedia: Nephrocalcinosis, once known as Albright\'s calcinosis after Fuller Albright, is a term originally used...44 more...

Aliases & Descriptions for Nephrocalcinosis

Sources:
6Disease Ontology, 30NIH Rare Diseases, 8DISEASES, 32Novoseek , 43UMLS, 24MeSH, 40SNOMED-CT, 27NCIt
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Aliases & Descriptions:

nephrocalcinosis 6 30 8 32 43
nephrocalcinosis (disorder) 6
hypercalcemic nephropathy 30

External Ids:

SNOMED-CT40 48638002, 190863003, 267505006 154752005, more

Related Diseases for Nephrocalcinosis

Sources:
13GeneCards, 14GeneDecks
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Diseases related to nephrocalcinosis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1hypomagnesemia30.0CLCNKB, CLDN16, CLDN19, FXYD2, SLC12A3, SLC12A1
2hypercalciuria29.6CYP24A1, CASR, ALB, ATP6V1B1, KCNJ1, CLDN19
3renal tubular acidosis29.1SLC4A1, OCRL, CA2, ATP6V1B1
4proteinuria28.3OCRL, SPP1, HSD11B2, ALB, UMOD, CLCN5
5sensorineural hearing loss27.9KCNJ1, ATP6V1B1, CASR, SLC12A1
6dent disease27.7LRP2, SLC12A3, SLC12A1, OCRL, CLCN7, CLCN5
7urolithiasis27.6SOX9, AGXT, SPP1, CA2, CASR, ALB
8rickets27.2CYP24A1, CASR, ALB
9fanconi syndrome27.0OCRL, ALB, CLCN5, NAGLU, LRP2
10hypercalcemia26.3SI, SLC12A1, SLC34A1, NR1I3, CYP24A1, CASR
11beta thalassemia26.1SLC4A1, HBB, HBA2, SPP1, ALB, NAGLU
12thalassemia26.0SLC4A1, HBB, HBA2, SPP1, ALB, NAGLU
13hearing loss25.4PHEX, ATP6V0A4, ATP6V1B1, XDH, CLCN1, LRP2
14anemia24.1CA2, HBA2, HBB, SLC26A1, SLC4A1, ALB
15primary hyperoxaluria13.6AGXT, GRHPR
16hypophosphatemic rickets with hypercalciuria13.6SLC34A1, SLC34A3
17hereditary hypophosphatemic rickets with hypercalciuria13.6SLC34A1, SLC34A3
18bartter syndrome antenatal type 213.6SLC12A1, KCNJ1
19familial hypocalciuric hypercalcemia13.5NR1I3, CASR
20hyperparathyroidism, neonatal severe primary13.5NR1I3, CASR
21familial hypophosphatemia13.4SLC34A1, SLC34A3, PHEX, CLCN5
22mucinous tubular and spindle renal cell carcinoma13.4NAGLU, CLCN5, SLC12A3
23aminoaciduria13.4CLCN5, OCRL, SLC34A1
24oculocerebrorenal syndrome13.4OCRL, NAGLU, LRP2
25bartter syndrome type 313.3SLC12A3, SLC12A1, KCNJ1, CLCNKB
26polyhydramnios13.3SLC12A3, SLC12A1, KCNJ1, CLCNKB
27renal tubular acidosis, distal13.3SLC4A1, ATP6V0A4, ATP6V1B1
28renal tubular acidosis, distal, autosomal recessive13.3ATP6V1B1, ATP6V0A4, SLC4A1
29lactic acidosis13.3NAGLU, CA2, OCRL, SLC4A1
30pseudohypoaldosteronism13.2SLC12A3, SLC12A1, FXYD2, KCNJ1
31x-linked hypophosphatemia13.2SLC34A1, SLC34A3, PHEX, CYP24A1, CLCN5
32gitelman syndrome13.2SLC12A3, SLC12A1, CASR, KCNJ1, CLCNKB
33secondary syphilis13.2PHEX, NR1I3, SPP1, CASR, CLCN7
34medullary sponge kidney13.2SIK1, ATP6V0A4, ATP6V1B1
35polycystic kidney disease, autosomal dominant13.2SLC4A1, SLC12A1, HBA2
36chronic pyelonephritis13.2ALB, UMOD, NAGLU
37calciphylaxis13.1SPP1, CASR, ALB
38lipoid nephrosis13.1SPP1, ALB, NAGLU
39glucose intolerance13.1SI, SLC12A1, SLC5A1
40hyperaldosteronism13.1SLC12A3, SLC12A1, HSD11B2, KCNJ1, CLCNKB
41secondary hyperparathyroidism of renal origin13.1ALB, CASR, NR1I3
42hemoglobin constant spring13.0HBB, HBA2
43hereditary spherocytosis13.0HBB, HBA2
44autoimmune pancreatitis12.9SPP1, CA2, ALB
45calcinosis12.9PHEX, SPP1, CASR
46monogenic disease12.9AGXT, HBB, HBA2
47primary hyperparathyroidism12.9NR1I3, CASR, ALB, LRP2
48heinz body anemia12.9HBB, HBA2
49hyperphosphatemia12.9SLC34A1, PHEX, SPP1, CASR, ALB
50focal segmental glomerulosclerosis12.9SLC12A1, SPP1, ALB, CLCN5, NAGLU

Graphical network of the top 20 diseases related to nephrocalcinosis:



Graphical network of diseases related to nephrocalcinosis

Clinical Features for Nephrocalcinosis

Drugs & Therapeutics for Nephrocalcinosis

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for nephrocalcinosis

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Genetic Tests for Nephrocalcinosis

Anatomical Context for Nephrocalcinosis

Sources:
22MalaCards
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MalaCards organs/tissues related to nephrocalcinosis:

22
Kidney

Phenotypes for genes affiliated with Nephrocalcinosis

Sources:
25MGI
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MGI Mouse Phenotypes related to nephrocalcinosis:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1behavior/neurological phenotypeMP:00053868.4CASR, SPP1, PHEX, SOX9, SLC34A1, HSD11B2
2digestive/alimentary phenotypeMP:00053818.0SOX9, SLC5A1, SLC34A3, SLC26A1, PHEX, CA2
3reproductive system phenotypeMP:00053897.8OCRL, SOX9, SLC34A1, SLC12A1, HBB, NR1I3
4integument phenotypeMP:00107717.6HBB, SOX9, SLC12A1, SLC4A1, HBA2, CASR
5skeleton phenotypeMP:00053907.2SPP1, PHEX, HBB, SOX9, SLC34A3, SLC34A1
6growth/size phenotypeMP:00053785.4NR1I3, PHEX, HBA2, HBB, OCRL, SOX9
7renal/urinary system phenotypeMP:00053674.7SLC4A1, CASR, HSD11B2, ALB, GRHPR, XDH
8mortality/agingMP:00107684.7HBB, HBA2, PHEX, NR1I3, OCRL, SOX9
9homeostasis/metabolism phenotypeMP:00053764.0SLC4A1, SLC12A3, CA2, CASR, HSD11B2, ALB

Publications for genes affiliated with Nephrocalcinosis

Sources:
35PubMed
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Articles related to nephrocalcinosis:

(show all 32)
idTitleAuthorsYearAffiliating Genes
1A novel mutation of the claudin 16 gene in familial h ypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets. (21848011)Kasapkara C.S.... Hasanoglu A.2011CLDN16
2Hyperoxaluria is reduced and nephrocalcinosis prevented with an oxalate-degrading enzyme in mice with hyperoxaluria. (18698135)Grujic D.... Margolin A.L.2009AGXT
3Crystalluric and tubular epithelial parameters during the onset of intratubular nephrocalcinosis: illustration of the 'fixed particl e' theory in vivo. (19717825)Vervaet B.A.... Verhulst A.2009SPP1
4A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma. (19231556)Cost N.G.... Baker L.A.2009SOX9
5Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene. (18816383)Hampson G.... Scoble J.2008CLDN16
6Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in 2 sisters. (18327378)Al-Elq A.H.2008CLDN16
7Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor. (18974585)Prabahar M.R.... Soundararajan P.2008HBB, HBA2
8Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings. (18253757)Peru H.... Konrad M.2008CLDN16
9Nephrocalcinosis in preterm babies. Commentary on Rockwell et al.: preliminary observations of urinary calcium and osteopontin excretion in premature infants, term infants and adults (Neonatology 2008;93:241-245). (18025798)White M.P.2008SPP1
10Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1. (18288487)Soylu O.B.... Kasahara M.2008SLC5A1
11CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. (18003771)Konrad M.... Schaller A.2008CLDN16
12Hypomagnesemia and nephrocalcinosis in a patient with two heterozygous mutations in the CLDN16 gene. (17347984)Staiger K.... Haring H.U.2007CLDN16
13Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail. (16501001)Muller D.... Hunziker W.2006CLDN16
14Preconditioning of the distal tubular epithelium of the human kidney precedes nephrocalcinosis. (16164641)Verhulst A.... De Broe M.E.2005SPP1
15Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study. (15856319)Tasic V.... Konrad M.2005CLDN16
16Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations. (16047219)Kang J.H.... Choi Y.2005CLDN16
17Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Association with ocular abnormalities (15574250)Loris Pablo C.... Ferrer Novella C.2004CLDN16
18Urinary NAG in children with urolithiasis, nephrocalcinosis, or risk of urolithiasis. (12920632)Sikora P.... Hoppe B.2003NAGLU
19A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis. (14654610)Cheidde L.... Heilberg I.P.2003SLC4A1
20Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. (12014995)Belmont J.W.... Schwartz I.D.2002SI
21Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. (11518780)Weber S.... Konrad M.2001CLDN16
22Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. (10878661)Weber S.... Konrad M.2000CLDN16
23Sensorineural hearing loss in distal renal tubular acidosis, nephrocalcinosis and microcytic anemia (11139892)Ptok M.2000ATP6V1B1
24Microscopic nephrocalcinosis and hypercalciuria in ne phrotic syndrome. (11112210)Mocan H.... Kuzey G.M.2000ALB
25Is there a role for uric acid in an animal model of calcium phosphate nephrocalcinosis and calcium phosphate crystallization in urine of patients with idiopathic calcium urolithiasis? An orientational study. (10608515)Schwille P.O.... Wipplinger J.1999XDH
26The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis. (9690036)Thakker R.V.1998CLCN5, CLCN7, SLC12A3
27Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. (9328929)Akuta N.... Thakker R.V.1997CLCN5
28Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome. (9453381)Ismail E.A.... Sabry M.A.1997CA2
29Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). (9062355)Lloyd S.E.... Thakker R.V.1997CLCN5
30Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: is the disease identical to Dent's disease in United Kingdom? (7753256)Igarashi T.... Akagi K.1995CLCN5
31Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22. (8111383)Pook M.A.... Thakker R.V.1993CLCN5
32Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings. (668721)Manz F.... Lombeck J.1978CLDN16

Expression for genes affiliated with Nephrocalcinosis

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Nephrocalcinosis

Pathways for genes affiliated with Nephrocalcinosis

Sources:
10EMD Millipore, 36QIAGEN, 20KEGG, 38Reactome
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Pathways related to nephrocalcinosis according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1Selected targets of HNF1109.6UMOD, ALB, SLC5A1
2Hepatic ABC Transporters369.5CLCN1, CLCNKB, CLCN5, CLCN7
3Collecting duct acid secretion209.3SLC4A1, CA2, ATP6V0A4, ATP6V1B1, CLCNKB
4O2/CO2 exchange in erythrocytes389.3CA2, HBA2, HBB, SLC4A1

Compounds for genes affiliated with Nephrocalcinosis

Sources:
32Novoseek , 9DrugBank, 18HMDB, 34PharmGKB, 42Tocris Bioscience
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Compounds related to nephrocalcinosis according to GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1calcium oxalate32 10.4AGXT, SPP1, UMOD, NAGLU
2Methyclothiazide9 9 11.3SLC12A1, CA2
3Quinethazone9 9 11.3SLC12A3, SLC12A1, CA2
4gentamicin32 9 9 12.3CASR, NAGLU, LRP2
5glucose32 10.2UMOD, CASR
6thiazide32 10.2SLC12A3, SLC12A1, CA2, CASR
7oxalate32 10.0SLC4A1, SLC26A1, AGXT, SPP1, GRHPR, UMOD
81,25 dihydroxy vitamin d332 9.9SLC34A1, PHEX, NR1I3, SPP1, CYP24A1, CASR
9dansylamide32 9 9 11.9CA2, ALB
10sevelamer32 9.8CASR, ALB
11bicarbonate32 9.8SLC4A1, SLC26A1, CA2, ALB
12urea32 9 18 9 12.8SLC12A1, CA2, ALB, UMOD, NAGLU
1323-diphosphoglycerate32 9.8HBB, HBA2, CA2
14nacl32 9.7SLC12A3, SLC12A1, SLC5A1, CASR, UMOD, KCNJ1
15iopentol32 9.7ALB, NAGLU
16citrate32 9.7SLC4A1, SPP1, CA2, ALB, UMOD, NAGLU
17neomycin32 9.7CASR, SPP1, NR1I3, HBB
18chlorine32 18 10.7SLC12A3, SLC12A1, CLCN7, CLCN5, CLCNKB, CLCN1
1925-hydroxyvitamin d32 9.6SPP1, CYP24A1, CASR, ALB, LRP2
20phosphorus32 9.6SLC34A1, PHEX, NR1I3, SPP1, CASR, ALB
21hydrochlorothiazide32 34 9 18 9 13.5SLC12A3, CA2, CASR, HSD11B2, ALB, CLDN16
22hmba32 9.5HBA2, HBB, SLC5A1
23furosemide32 42 34 9 18 9 14.4SLC4A1, SLC12A3, SLC12A1, CA2, HSD11B2, ALB
24glyceraldehyde 3-phosphate32 9.3SLC4A1, SLC5A1, SOX9, HBB, CA2
25malondialdehyde32 9.3SI, SPP1, XDH, NAGLU
26spermine32 9 18 9 12.3SI, PHEX, NR1I3, CASR, XDH
27lysine32 9.3SLC4A1, SLC12A3, HBB, NR1I3, CA2, CASR
28proline32 9.3SI, SLC5A1, SOX9, HBA2, PHEX, SPP1
29calcitriol32 42 9 18 9 13.1SLC34A1, PHEX, NR1I3, SPP1, CYP24A1, CA2
30vitamin d32 9.1SLC34A1, PHEX, NR1I3, SPP1, CYP24A1, CASR
31uric acid32 18 10.1SPP1, ALB, XDH, UMOD, NAGLU
32hydrogen32 18 10.1SI, SLC4A1, SLC5A1, HBB, CA2, CASR
33potassium32 9 18 9 12.0SLC4A1, SLC12A3, SLC12A1, CASR, HSD11B2, ALB
34creatinine32 9.0OCRL, SPP1, CA2, CASR, HSD11B2, ALB
35cholesterol32 9 18 9 11.8SI, SLC4A1, SLC5A1, NR1I3, SPP1, HSD11B2
36steroid32 8.8SOX9, HBB, NR1I3, CYP24A1, CA2, HSD11B2
37aspartate32 8.7SI, AGXT, HBB, PHEX, SPP1, CA2
38leucine32 8.7SI, SLC4A1, SLC12A3, HBB, HBA2, PHEX
39chloride32 8.4SI, CLCN1, SLC4A1, SLC12A3, SLC12A1, SLC26A1
40cyclic amp32 18 9.4SLC5A1, SOX9, HBB, NR1I3, CYP24A1, CA2
41magnesium32 9 18 9 11.3CASR, TRPM6, SPP1, NR1I3, SLC12A1, SIK1
42arginine32 8.1SI, HBB, NR1I3, SPP1, CA2, CASR
43serine32 7.9SLC12A3, SLC5A1, SOX9, HBB, NR1I3, SPP1
44lactate32 7.8SI, SLC4A1, SLC5A1, HBB, SPP1, CA2
45oxygen32 18 8.7SI, SOX9, HBB, HBA2, NR1I3, SPP1
46alanine32 7.6HBB, AGXT, SLC5A1, SLC12A3, SLC4A1, SI
47lipid32 7.5SI, SLC4A1, OCRL, NR1I3, SPP1, CYP24A1
48sodium32 18 8.5SLC12A3, SLC12A1, SLC34A1, SLC5A1, PHEX, NR1I3
49cysteine32 7.2SI, SLC4A1, SLC5A1, AGXT, HBB, SPP1
50calcium32 9 18 9 8.1ALB, GRHPR, FXYD2, ATP6V0A4, ATP6V1B1, UMOD

GO Terms for genes affiliated with Nephrocalcinosis

Sources:
12Gene Ontology
See all sources

Cellular components related to nephrocalcinosis according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:0163239.8SLC4A1, SLC34A1, CA2, ATP6V1B1, UMOD, CLDN19
2apical part of cellGO:0451779.6SPP1, CA2, ATP6V0A4, CLCN5
3cytoplasmic vesicleGO:0314109.5SLC34A3, MAP1LC3B, UMOD, CLCN7
4haptoglobin-hemoglobin complexGO:0318389.5HBA2, HBB
5integral to plasma membraneGO:0058879.0SLC12A3, SLC34A1, SLC5A1, PHEX, CASR, CLCN5
6brush border membraneGO:0315269.0LRP2, SLC34A1, SLC34A3, SLC5A1, TRPM6, ATP6V0A4
7apical plasma membraneGO:0163248.2SI, SLC12A3, SLC34A3, SLC5A1, TRPM6, ATP6V0A4

Biological processes related to nephrocalcinosis according to GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1neuronal action potential propagationGO:01922710.2CLCN1, CLDN19
2response to vitamin DGO:03328010.0LRP2, CYP24A1, SPP1
3sodium ion transportGO:0068149.7SLC12A3, SLC12A1, SLC34A1, SLC34A3
4ion transportGO:0068119.6SLC4A1, SLC12A3, SLC12A1, SLC26A1, SLC34A1, SLC34A3
5calcium-independent cell-cell adhesionGO:0163389.5CLDN16, CLDN10, CLDN19
6bicarbonate transportGO:0157019.4SLC4A1, HBB, HBA2, CA2
7ossificationGO:0015039.4SOX9, CASR, ATP6V0A4, ATP6V1B1
8excretionGO:0075889.4CLCNKB, GRHPR, ATP6V0A4, ATP6V1B1, UMOD, KCNJ1
9transportGO:0068108.9SLC12A3, SLC12A1, ALB, FXYD2, CLCN7, CLCN5
10transmembrane transportGO:0550858.1SLC4A1, SLC12A3, SLC12A1, SLC26A1, SLC34A1, SLC34A3
11small molecule metabolic processGO:0442816.5HBB, AGXT, OCRL, SLC5A1, SLC4A1, SI

Molecular functions related to nephrocalcinosis according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium-dependent phosphate transmembrane transporter activityGO:01532110.2SLC34A3, SLC34A1
2chloride transmembrane transporter activityGO:01510810.1SLC26A1, SLC4A1
3voltage-gated chloride channel activityGO:0052479.9CLCN1, CLCNKB, CLCN5, CLCN7
4chloride channel activityGO:0052549.8CLCC1, CLCN1, CLCN5, CLCN7
5haptoglobin bindingGO:0317209.6HBB, HBA2
6oxygen bindingGO:0198258.7ALB, HBA2, HBB

Sources for Nephrocalcinosis

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS