MCID: NPH003
MIFTS: 47

Nephrocalcinosis malady

Categories: Rare diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Nephrocalcinosis

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Aliases & Descriptions for Nephrocalcinosis:

Name: Nephrocalcinosis 10 45 47 12 36 65
 
Hypercalcemic Nephropathy 45 65

Classifications:



External Ids:

Disease Ontology10 DOID:12679
MeSH36 D009397
NCIt42 C84918
UMLS65 C0027709, C0152023

Summaries for Nephrocalcinosis

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NIH Rare Diseases:45 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 nephrolithiasis, type i and proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis. An important gene associated with Nephrocalcinosis is CLDN16 (Claudin 16), and among its related pathways are Glycine, serine and threonine metabolism and Glyoxylate metabolism and glycine degradation. Affiliated tissues include kidney, bone and lung, and related mouse phenotypes are skeleton and renal/urinary system.

Wikipedia:68 Nephrocalcinosis, once known as Albright\'s calcinosis after Fuller Albright, or \"Anderson-Carr\"... more...

Related Diseases for Nephrocalcinosis

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

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1nephrolithiasis, type i29.6CLCN5, CLCNKB, CLDN16, SLC12A1
2proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis12.1
3familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement11.9
4familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement11.9
5dent disease11.5
6hypomagnesemia 3, renal11.3
7amelogenesis imperfecta, type ig11.3
8blue diaper syndrome11.3
9amelogenesis imperfecta hypoplastic type, ig11.2
10hypomagnesemia 5, renal, with ocular involvement11.2
11hypomagnesemia primary11.0
12lubinsky syndrome10.8
13manz syndrome10.8
14hypergonadotropic hypogonadism-cataract syndrome10.8
15hypophosphatemic rickets10.6
16sengers syndrome10.4ATP6V1B1, SLC4A1
17renal tubular acidosis10.4
18short syndrome10.4
19renal tubular acidosis, distal, type 310.4ATP6V1B1, SLC4A1
20apparent mineralocorticoid excess10.3
21nephrolithiasis10.3
22hypercalcemia10.2
23long qt syndrome 1310.2KCNJ1, SLC12A1
24laubry-pezzi syndrome10.2KCNJ1, SLC12A1
25rickets10.2
26retinal ischemia10.2ATP6V1B1, SLC4A1
27primary hyperoxaluria10.1
28hyperparathyroidism10.1
29amelogenesis imperfecta10.1
30carbohydrate metabolic disorder10.0AGXT, CLCN5, GRHPR
31nephrotic syndrome10.0
32hypocalcemia, autosomal dominant10.0
33dent disease 210.0
34down syndrome10.0
35cystic fibrosis10.0
36hypophosphatemia10.0
37primary optic atrophy9.9CLCN5, SLC34A1
38sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay9.9
39hypomagnesemia 1, intestinal9.9
40renal tubular acidosis, distal, ar9.9
41hypercalcemia, infantile9.9
42anorexia nervosa9.9
43glucose/galactose malabsorption9.9
44primary hyperparathyroidism9.9
45thyroiditis9.9
46diabetes insipidus9.9
47medullary sponge kidney9.9
48aminolevulinate dehydratase deficiency porphyria9.9CLCN5, SLC34A1
49hypoparathyroidism9.8
50hypokalemia9.8

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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Drugs for Nephrocalcinosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
HydrochlorothiazideapprovedPhase 2, Phase 338758-93-53639
Synonyms:
125727-50-6
3,4-Dihydro-6-chloro-7-sulfamyl-1,2, 4-benzothi
3,4-Dihydrochlorothiazide
58-93-5
6-Chloro-7-sulfamoyl-3, 4-dihy
8049-49-8
AB00052012
AC-11072
AC1L1GDT
AC1Q55FM
AF-614/30832002
AKOS000121373
ARONIS24316
Acesistem
Acuilix
Acuretic
Aldactazide
Aldactazide 25/25
Aldazida
Aldectazide 50/50
Aldoril
Ambap58-93-5
Apo-Hydro
Apresazide
Aquarills
Aquarius
Aquazide H
Aquazide-H
BAS 00371709
BIDD:GT0153
BPBio1_000019
BRD-K13078532-001-05-2
BRN 0625101
BSPBio_000017
BSPBio_002132
Bio-0714
Bremil
Briazide
C7H8ClN3O4S2
CAS-58-93-5
CCRIS 2082
CHEMBL435
CID3639
CPD000035778
Caplaril
Capozide
Carozide
Catiazida
Chlorizide
Chlorosulthiadil
Chlorothiazide
Chlorsulfonamidodihydrobenzothiadiazine dioxide
Chlorzide
Chlothia
Cidrex
Clorana
Component of Butizide Prestabs
Concor Plus
Condiuren
D00340
D006852
DB00999
Diaqua
Dichlorosal
Dichlorotride
Dichlothiazide
Dichlotiazid
Dichlotride
Diclotride
Dicyclotride
Didral
Dihydran
Dihydrochlorothiazid
Dihydrochlorothiazide
Dihydrochlorothiazidum
Dihydrochlorurit
Dihydrochlorurite
Dihydroxychlorothiazidum
Direma
Disalunil
Disothiazid
Diu 25 Vigt
Diu-Melusin
Diu-melusin
Diuril
Diurogen
DivK1c_000289
Dixidrasi
Drenol
Dyazide
EINECS 200-403-3
EU-0100614
Esidrex
Esidrix
Esidrix (TN)
Esimil
Esoidrina
FT-0082750
Fluvin
H 4759
H1274
H2910_SIAL
H4759_SIAL
HCT
HCT-Isis
HCTZ
HCZ
HMS1568A19
HMS1920D19
HMS2091L05
HMS500O11
HMS553N04
HSDB 3096
Hidril
Hidro-Niagrin
Hidrochlortiazid
Hidroclorotiazida
Hidroclorotiazida [INN-Spanish]
Hidroronol
Hidrosaluretil
Hidrotiazida
Hyclosid
Hydrex-semi
Hydril
Hydro Par
Hydro-Aquil
Hydro-D
Hydro-Diuril
Hydro-Saluric
Hydro-T
Hydro-chlor
HydroDIURIL
Hydrochlorat
Hydrochloro Thiazide
Hydrochlorot
Hydrochlorothiazid
Hydrochlorothiazide
Hydrochlorothiazide (JP15/USP/INN)
Hydrochlorothiazide Intensol
Hydrochlorothiazide [INN:BAN:JAN]
 
Hydrochlorothiazidum
Hydrochlorothiazidum [INN-Latin]
Hydrochlorthiazide
Hydrochlorthiazidum
Hydrocot
Hydrodiuretic
Hydrodiuril
Hydropres
Hydrosaluric
Hydrothide
Hydrozide
Hydrozide Injection, Veterinary
Hypothiazid
Hypothiazide
Hytrid
Hyzaar
I09-0531
IDI1_000289
Idroclorotiazide
Idroclorotiazide [DCIT]
Idrotiazide
Inderide
Inderide 80/25
Indroclor
Ivaugan
Jen-Diril
KBio1_000289
KBio2_001357
KBio2_003925
KBio2_006493
KBio3_001352
KBioGR_000351
KBioSS_001357
LS-243
Lopac-H-4759
Lopac0_000614
Lopressor HCT
Lotensin HCT
Lotensin Hct
MLS000069619
Manuril
Maschitt
Maxzide
Maybridge Compound 10
Maybridge1_004336
Mazide 25 mg
Medozide
Megadiuril
Microzide
Microzide (TN)
Mictrin
Mikorten
Modurcen
Moduretic
MolPort-000-144-465
NCGC00015508-01
NCGC00015508-02
NCGC00015508-03
NCGC00015508-07
NCGC00015508-12
NCGC00021906-03
NCGC00021906-04
NCGC00021906-05
NCGC00021906-06
NCGC00021906-07
NCGC00021906-08
NCI-C55925
NCI60_004317
NINDS_000289
NSC 53477
NSC53477
Natrinax
Nefrix
Nefrol
Neo-Codema
Neo-Flumen
Neo-Minzil
Neo-codema
Neoflumen
Newtolide
Novodiurex
Oprea1_357174
Oretic
Pantemon
Panurin
Prestwick0_000009
Prestwick1_000009
Prestwick2_000009
Prestwick3_000009
Prestwick_263
Prinzide
Raunova Plus
Ro-Hydrazide
Ro-hydrazide
Roxane
S1708_Selleck
SAM002554901
SMR000035778
SPBio_001259
SPBio_001938
SPECTRUM1500335
STK315354
Saldiuril
Sectrazide
Selozide
Ser-Ap-Es
Servithiazid
Spectrum2_001040
Spectrum3_000456
Spectrum4_000006
Spectrum5_000824
Spectrum_000877
Spironazide
Su 5879
Tandiur
Thiaretic
Thiuretic
Thlaretic
Timolide
UNII-0J48LPH2TH
Unazid
Unipres
Urodiazin
Urozide
Vaseretic
Vetidrex
WLN: T66 BSWM EM DHJ HG ISZW
ZINC00896569
Ziac
Zide
adiazine-1,1-dioxide
component of Aldactazide
component of Aldoril
component of Caplaril
component of Cyclex
component of Dyazide
component of Esimil
diclot ride
dro-2H-1,2,4-benzothiadiazine 1,1-dioxide
hydrochlorothiazide
panurin dichloride
2AnticoagulantsPhase 31760
3Pharmaceutical SolutionsPhase 37004
4Calcium, DietaryPhase 3, Phase 2, Phase 14678
5Chelating AgentsPhase 3667
6Hormone AntagonistsPhase 2, Phase 310002
7EndorphinsPhase 2, Phase 347
8Bone Density Conservation AgentsPhase 2, Phase 32600
9Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 39988
10Neurotransmitter AgentsPhase 2, Phase 314795
11beta-endorphinPhase 2, Phase 399
12Melanocyte-Stimulating HormonesPhase 2, Phase 398
13HormonesPhase 2, Phase 311748
14ExpectorantsPhase 3337
15Adrenocorticotropic HormonePhase 2, Phase 3133
16Natriuretic AgentsPhase 3, Phase 21403
17diureticsPhase 3, Phase 21194
18Potassium CitratePhase 321
19Respiratory System AgentsPhase 33931
20Sodium Chloride Symporter InhibitorsPhase 2, Phase 3399
21Antihypertensive AgentsPhase 2, Phase 33618
22CitrateNutraceuticalPhase 31001
23
Citric AcidnutraceuticalPhase 3100177-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid
24potassium phosphatePhase 1, Phase 210
25Phosphorus SupplementNutraceuticalPhase 1, Phase 23
26
Magnesium Sulfateapproved1547487-88-924083
Synonyms:
(C10-C16) Alkylalcohol sulfuric acid, magnesium salt
00627_FLUKA
10028-26-9
10034-99-8 (heptahydrate)
13143_RIEDEL
13143_SIAL
139939-75-6
18939-43-0
203726_ALDRICH
208094_SIAL
34276_FLUKA
34276_RIEDEL
38146_FLUKA
38146_RIEDEL
63126_FLUKA
63136_FLUKA
63136_SIAL
63139_FLUKA
63139_SIAL
68081-97-0
7487-88-9
AC1L2N76
AC1LAX36
AC1Q1U66
AI3-02029
Bitter salt
C10-C16 Alkyl alcohol sulfuric acid magnesium salt
CCRIS 8411
CHEBI:32599
CID24083
CPD0-2390
Caswell No. 534
D008278
DB00653
EINECS 231-298-2
EINECS 233-073-4
EINECS 242-691-3
EINECS 268-365-0
EPA Pesticide Chemical Code 050503
Epsom Sal
Epsom Salt
Epsom Salt Magnesium Sulfate
Epsom Salt Soaking Solution
Epsom salt
HSDB 664
Hair salt
Health Smart Natural Epsom Salt
Heptahydrate Magnesium Sulfate
Humco Epson Salt
Kieserite [as monohydrate]
LS-88605
M2643_SIGMA
M3409_SIGMA
 
M7506_SIAL
M8150_SIGMA
MAGNESIUM SULFATE
Magnesium Sulfate
Magnesium Sulfate In Plastic Container
Magnesium Sulfate, Heptahydrate
Magnesium Sulphate Hydrate
Magnesium bisulfate
Magnesium hydrogensulphate
Magnesium sulfate
Magnesium sulfate (1:1)
Magnesium sulfate anhydrous
Magnesium sulfate dried
Magnesium sulfate heptahydrate
Magnesium sulfate hexahydrate
Magnesium sulfate in dextrose 5% in plastic container
Magnesium sulfate solution
Magnesium sulphate
Magnesium sulphate anhydrous
Magnesium sulphate dried
Magnesium sulphate heptahydrate
Magnesium(II) sulfate
Magnesium(ii) sulfate
Magnesiumsulfat
MgSO4
MolPort-003-925-000
Morton Natural Epsom Salt
NSC 146179
Natural Epsom Salt
OT-S
OT-S (drying agent)
Pepsom Flying P Epsom Salt
Pepsom Salt Peppermint
Royal Epsom Salt
SDA 15-062-07
Sal Angalis
Sal De sedlitz
Sal amarum
Sal anglicum
Sal catharticum
Sal seidlitense
Salts of england
Sel d'angleterre
Sulfate, Magnesium
Sulfuric acid magnesium salt
Sulfuric acid magnesium salt (1:1)
Sulfuric acid magnesium salt (VAN)
Sulfuric acid, C10-16 alkyl ester, magnesium salt
Sulfuric acid, magnesium salt
Sulfuric acid, magnesium salt (1:1)
Sulfuric acid, mono-C10-16-alkyl esters, magnesium salts
Tomix OT
UNII-DE08037SAB
UNII-ML30MJ2U7I
magnesium(2+) ion sulfate
27Peripheral Nervous System Agents18510
28Tocolytic Agents561
29Central Nervous System Depressants10016
30calcium channel blockers1743
31Anesthetics7385
32Anti-Arrhythmia Agents2371
33Anticonvulsants2249
34Analgesics9358

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Alkaline Citrate Treatment to Lower the Risk of Nephrocalcinosis in Preterm InfantsCompletedNCT00249951Phase 3
2Effects of PTH Replacement on Bone in HypoparathyroidismActive, not recruitingNCT00395538Phase 3
3Study to Assess the Efficacy and Safety of Oral Potassium Citrate on the Prevention of Nephrocalcinosis in Extreme PrematureNot yet recruitingNCT01756547Phase 3
4ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot StudyNot yet recruitingNCT02155803Phase 2, Phase 3
5Dose-Dependent Effect of Thiazide in Dent's Disease HypercalciuriaTerminatedNCT00638482Phase 2, Phase 3
6Role Of Phosphorus And FGF 23 In Patients With Dent DiseaseRecruitingNCT02016235Phase 1, Phase 2
7Preterm Infants and NephrocalcinosisRecruitingNCT02438267
8Renal Tubular Acidosis in Incident Renal Transplant RecipientsRecruitingNCT01283880
9Randall's Plaque Study: Pathogenesis and Relationship to NephrolithiasisRecruitingNCT00169806
10Effect of Magnesium Sulfate Infusion Rate on Magnesium Retention in Critically Ill PatientsTerminatedNCT01426165
11International Registry for Primary HyperoxaluriaWithdrawnNCT00875823

Search NIH Clinical Center for Nephrocalcinosis


Cochrane evidence based reviews: nephrocalcinosis

Genetic Tests for Nephrocalcinosis

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Anatomical Context for Nephrocalcinosis

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MalaCards organs/tissues related to Nephrocalcinosis:

33
Kidney, Bone, Lung, T cells, Thyroid, Liver, Breast

Animal Models for Nephrocalcinosis or affiliated genes

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MGI Mouse Phenotypes related to Nephrocalcinosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.7ATP6V1B1, CASR, CLCN5, CYP24A1, SLC12A1, SLC34A1
2MP:00053675.6AGXT, ATP6V1B1, CASR, CLCN5, CLCNKB, CLDN16
3MP:00053765.3AGXT, ATP6V1B1, CASR, CLCN5, CLCNKB, CLDN16

Publications for Nephrocalcinosis

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Articles related to Nephrocalcinosis:

(show top 50)    (show all 551)
idTitleAuthorsYear
1
Risk factors affecting the development of nephrocalcinosis, the most common complication of hypophosphatemic rickets. (26203600)
2015
2
Nephrocalcinosis in primary SjAPgren's syndrome. (25852876)
2014
3
Pregnancy outcome in Women with Autosomal dominant Hypocalcaemic Hypercalciuric Nephrocalcinosis. (24428838)
2014
4
Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice. (24732453)
2014
5
Pseudoxanthoma elasticum and nephrocalcinosis: Incidental finding or an infrequent manifestation? (24860756)
2014
6
Development of an animal model of nephrocalcinosis via selective dietary sodium and chloride depletion. (23174703)
2013
7
Ocular involvement in a child with medullary nephrocalcinosis. (22760414)
2013
8
ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus. (22805396)
2012
9
An unusual cause of acute renal failure in a patient with surgical hypoparathyroidism: nephrocalcinosis. (22083502)
2012
10
A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets. (21848011)
2011
11
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome. (21597970)
2011
12
Localization and mechanism of nephrocalcinosis in pseudo-Bartter's syndrome. (20393494)
2010
13
Congenital hypothyroidism and nephrocalcinosis. (20371898)
2010
14
Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome. (18384141)
2008
15
Report of a family with two different hereditary diseases leading to early nephrocalcinosis. (17899212)
2008
16
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
17
Nephrocalcinosis in phosphate nephropathy following oral phosphate purgative: a role for underlying subclinical primary hyperparathyroidism? (18037110)
2007
18
Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study. (15856319)
2005
19
Absorptive hyperoxaluria leads to an increased risk for urolithiasis or nephrocalcinosis in cystic fibrosis. (16129205)
2005
20
A 3-year-old child with proteinuria and nephrocalcinosis. Suspicion of Dent disease. (15365802)
2004
21
Nephrocalcinosis: molecular insights into calcium precipitation within the kidney. (15027893)
2004
22
Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. (12014995)
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
Oxalosis with nephrocalcinosis. (10607783)
2000
25
Persistent nephrocalcinosis for acetazolamide and furosemide in a pediatric patient. (11096312)
2000
26
Comparison of various phosphate salts as the dietary phosphorus source on nephrocalcinosis and kidney function in rats. (10683811)
1999
27
Oxalate nephrocalcinosis in renal tubular dysgenesis. (10671031)
1999
28
Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome. (7869519)
1995
29
Nephrocalcinosis in newborn. (7793250)
1995
30
Medullary nephrocalcinosis: sonographic findings in adult patients. (7756819)
1995
31
Ultrastructural study of tooth enamel with amelogenesis imperfecta in AI-nephrocalcinosis syndrome. (7554924)
1995
32
Renal magnesium wasting with hypercalciuria, nephrocalcinosis and ocular disorders. (7777115)
1995
33
Acetazolamide-induced nephrocalcinosis. (7950830)
1994
34
Nephrocalcinosis associated with primary aldosteronism. (7870238)
1994
35
Renal function in hyperparathyroidism with complicating nephrocalcinosis. (8453206)
1993
36
Hypercalciuria and nephrocalcinosis in children. (8374638)
1993
37
Inbred strains of rats have differential sensitivity to dietary phosphorus-induced nephrocalcinosis. (1640262)
1992
38
Insulin dependent diabetes mellitus accompanied by nephrocalcinosis and renal failure. (1446654)
1992
39
Nephrocalcinosis in the rat: a literature review. (1620876)
1992
40
Influence of dietary calcium:phosphorus ratio on mineral excretion and nephrocalcinosis in female rats. (3183767)
1988
41
Kidney function in rats with corticomedullary nephrocalcinosis: effects of alterations in dietary calcium and magnesium. (3612568)
1986
42
Nephrocalcinosis, hypercalcemia, sarcoidosis or primary hyperparathyroidism? (3983783)
1985
43
The effects of parathyroidectomy on the development of nephrocalcinosis in rats fed phosphate-supplemented and unsupplemented diets containing alpha protein. (6684887)
1983
44
Nephrocalcinosis demonstrated by ultrasound and CT. (6844054)
1983
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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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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7AGXT, GRHPR
2
Show member pathways
9.7AGXT, GRHPR
39.7AGXT, GRHPR
49.2CLCNKB, KCNJ1, SLC12A1
5
Show member pathways
9.0ATP6V1B1, CLCNKB, SLC4A1
6
Show member pathways
7.9ATP6V1B1, CLCN5, CLCNKB, SLC12A1, SLC34A1, SLC4A1

GO Terms for genes affiliated with Nephrocalcinosis

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Biological processes related to Nephrocalcinosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1potassium ion transportGO:000681310.2KCNJ1, SLC12A1
2response to potassium ionGO:003586410.1KCNJ1, SLC34A1
3glyoxylate metabolic processGO:00464879.7AGXT, GRHPR
4transportGO:00068109.2CLCN5, CLCNKB, SLC12A1
5ion transmembrane transportGO:00342208.4ATP6V1B1, CLCN5, CLCNKB, SLC12A1
6transmembrane transportGO:00550858.1ATP6V1B1, CLCN5, CLCNKB, SLC12A1, SLC34A1, SLC4A1

Sources for Nephrocalcinosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet