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, Small intestine, Testes, T cells

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
Nephrocalcinosis induced by hyperoxaluria in rats. (23842930)
2013
2
Parathyroid adenoma presented with multiple brown tumors and nephrocalcinosis. (23348217)
2013
3
Bilateral slipped capital femoral epiphysis in a male adolescent with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), chronic renal failure, and severe hyperparathyroidism. (23455761)
2013
4
An unusual cause of acute renal failure in a patient with surgical hypoparathyroidism: nephrocalcinosis. (22083502)
2012
5
Nephrocalcinosis and urolithiasis in children. (21956187)
2011
6
Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease. (21791920)
2011
7
Congenital hypothyroidism and nephrocalcinosis. (20371898)
2010
8
Cortical nephrocalcinosis in an infant caused by primary hyperoxaluria type 1. (20953596)
2010
9
Excellent renal function and reversal of nephrocalcinosis 8 years after isolated liver transplantation in an infant with primary hyperoxaluria type 1. (20628764)
2010
10
A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma. (19231556)
2009
11
Report of a family with two different hereditary diseases leading to early nephrocalcinosis. (17899212)
2008
12
Acute renal failure due to hypercalcemia-related nephrocalcinosis in a patient of non-Hodgkin's lymphoma featuring swelling of bilateral kidneys. (18092163)
2008
13
Anorexia nervosa and senna misuse: nephrocalcinosis, digital clubbing and hypertrophic osteoarthropathy. (18205591)
2008
14
Anorexia nervosa and senna misuse: nephrocalcinosis, digital clubbing and hypertrophic osteoarthropathy. (18803548)
2008
15
Cinacalcet-associated graft dysfunction and nephrocalcinosis in a kidney transplant recipient. (17765036)
2007
16
Ibandronate for the treatment of hypercalcemia or nephrocalcinosis in patients with multiple myeloma and acute renal failure: Case reports. (17016034)
2006
17
Bilateral uraemic optic neuritis complicating acute nephrocalcinosis. (16782990)
2006
18
Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study. (15856319)
2005
19
Development of nephrocalcinosis in very low birth weight infants. (15054644)
2004
20
Nephrocalcinosis in a 2-month-old girl suffering from a mild variant of idiopathic infantile hypercalcemia. (15865256)
2004
21
Hypercalciuria and nephrocalcinosis in cystic fibrosis patients. (15074370)
2004
22
Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome. (12597691)
2003
23
Sensorineural hearing loss in distal renal tubular acidosis, nephrocalcinosis and microcytic anemia]. (11139892)
2000
24
Incidence, ultrasonic patterns and resolution of nephrocalcinosis in very low birthweight infants. (10419252)
1999
25
SjAPgren's syndrome, renal tubular acidosis and nephrocalcinosis. (9543606)
1998
26
Hypercalciuria and nephrocalcinosis in a patient receiving long-term parenteral nutrition: the effect of intravenous chlorothiazide. (9669737)
1998
27
Nephrocalcinosis in three siblings with idiopathic hypercalciuria. (9543376)
1998
28
Nephrocalcinosis and Bartter's Syndrome. (18417783)
1997
29
Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome. (9453381)
1997
30
Consider sarcoidosis in patients with nephrocalcinosis, even if the chest roentgenogram is normal. (9351084)
1997
31
Nephrocalcinosis in a patient with primary hyperoxaluria type 2. (8865239)
1996
32
Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome. (7869519)
1995
33
Nephrocalcinosis and nephrolithiasis due to subcutaneous fat necrosis with hypercalcemia in two full-term asphyxiated neonates: sonographic findings. (7596662)
1995
34
Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. (7922301)
1994
35
Prophylactic role of extracorporeal shock wave lithotripsy in the management of nephrocalcinosis. (8499980)
1993
36
Can pre-established nephrocalcinosis regress? (1447910)
1992
37
Sarcoidosis associated with nephrocalcinosis in young children. (1447662)
1992
38
Congenital mesoblastic nephroma, nephrocalcinosis, and hypertrophic pyloric stenosis. (1656148)
1991
39
Dietary fluoride, unlike bromide or iodide, counteracts phosphorus-induced nephrocalcinosis in female rats. (1724178)
1991
40
Hypokalemia with nephrocalcinosis: a variant of Bartter's syndrome. (2764807)
1989
41
Ultrasound diagnosis of nephrocalcinosis in preterm infants. (3279919)
1988
42
Nephrocalcinosis: detection by ultrasonography. (6856410)
1983
43
A child with severe nephrolithiasis and nephrocalcinosis. (7177675)
1982
44
Hyperthyroidism associated with renal tubular acidosis, nephrocalcinosis, nephrogenic diabetes insipidus and periodic paralysis. Report of a case. (7291766)
1981
45
The ultrastructure of nephrocalcinosis induced in chicks by Cestrum diurnum leaves. (7467073)
1981
46
Nephrocalcinosis in a dog. (956017)
1976
47
Distribution of calcium and magnesium in rat kidney homogenate fractions accompanying magnesium deficiency induced nephrocalcinosis. (4371536)
1974
48
Nephrocalcinosis in children: diagnostic visualization by strontium-87M scintiscans. (5081718)
1972
49
EXPERIMENTAL NEPHROCALCINOSIS. A BIOCHEMICAL AND MORPHOLOGIC STUDY. (14260243)
1965
50
The sequential accumulation of calcium and acid mucopolysaccharides in nephrocalcinosis due to vitamin D. (14458193)
1962

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
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet