MCID: NPH003
MIFTS: 46

Nephrocalcinosis malady

Categories: Rare diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Nephrocalcinosis

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Aliases & Descriptions for Nephrocalcinosis:

Name: Nephrocalcinosis 11 48 27 50 39 13 68
 
Hypercalcemic Nephropathy 48 68

Classifications:



External Ids:

Disease Ontology11 DOID:12679
MeSH39 D009397
NCIt45 C84918

Summaries for Nephrocalcinosis

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NIH Rare Diseases:48 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 hypophosphatemic rickets 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 thyroid, and related mouse phenotypes are homeostasis/metabolism and renal/urinary system.

Wikipedia:71 Nephrocalcinosis, once known as Albright\'s calcinosis after Fuller Albright, or Anderson-Carr kidneys,... 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 134)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatemic rickets31.4CLCN5, CLCNKB, CLDN16, SLC12A1
2proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis12.2
3dent disease11.8
4familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis11.8
5amelogenesis imperfecta, type ig11.6
6hypomagnesemia 3, renal11.5
7hypomagnesemia 5, renal, with ocular involvement11.4
8blue diaper syndrome11.2
9short syndrome11.1
10amelogenesis imperfecta hypoplastic type, ig11.0
11apparent mineralocorticoid excess11.0
12hypocalcemia, autosomal dominant10.9
13sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay10.8
14hypomagnesemia 1, intestinal10.8
15renal tubular acidosis, distal, ar10.8
16hypercalcemia, infantile10.8
17nephrolithiasis, type i10.8
18dent disease 210.8
19hypogonadism-cataract syndrome10.7
20lubinsky syndrome10.7
21primary hypomagnesemia10.7
22renal tubular acidosis with deafness10.6
23hyperoxaluria, primary, type 110.6
24renal tubular acidosis, distal, autosomal recessive10.6
25hyperoxaluria, primary, type ii10.6
26bartter syndrome, type 210.6
27bartter syndrome, type 110.6
28renal tubular acidosis, distal, ad10.6
29hypocalcemia, autosomal dominant 210.6
30fanconi renotubular syndrome 4, with maturity-onset diabetes of the young10.6
31slc4a1-associated distal renal tubular acidosis10.6
32renal tubular acidosis10.3
33renier gabreels jasper syndrome10.3ATP6V1B1, SLC4A1
34sengers syndrome10.3ATP6V1B1, SLC4A1
35nephrolithiasis10.2
36adenylosuccinase lyase deficiency10.1ATP6V1B1, SLC4A1
37rickets10.1
38primary hyperoxaluria10.1
39lacrimal gland adenocarcinoma10.0AGXT, GRHPR
40amelogenesis imperfecta10.0
41hyperparathyroidism10.0
42kidney papillary necrosis10.0AGXT, GRHPR
43down syndrome9.9
44intramural coronary arterial course9.9KCNJ1, SLC12A1
45neutropenia9.9AGXT, CLCN5, GRHPR
46cystic fibrosis9.8
47hypophosphatemia9.8
48retinal vein occlusion9.8ATP6V1B1, SLC4A1
49mild pre-eclampsia9.8AGXT, CLCN5, CLDN16, CYP24A1
50hereditary night blindness9.8KCNJ1, SLC12A1

Graphical network of the top 20 diseases related to Nephrocalcinosis:



Diseases related to nephrocalcinosis

Symptoms & Phenotypes for Nephrocalcinosis

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MGI Mouse Phenotypes related to Nephrocalcinosis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.5AGXT, ATP6V1B1, CLCN5, CLCNKB, CLDN16, CLDN19
2MP:00053675.5AGXT, ATP6V1B1, CLCN5, CLCNKB, CLDN16, CYP24A1

Drugs & Therapeutics for Nephrocalcinosis

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

(show all 43)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Potassium Citrateapproved, vet_approvedPhase 325
Synonyms:
 
tripotassium citrate
2
Hydrochlorothiazideapproved, vet_approvedPhase 2, Phase 340558-93-53639
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
3EndorphinsPhase 2, Phase 365
4Bone Density Conservation AgentsPhase 2, Phase 33266
5beta-endorphinPhase 2, Phase 3133
6Hormone AntagonistsPhase 2, Phase 312778
7HormonesPhase 2, Phase 313979
8Neurotransmitter AgentsPhase 2, Phase 317734
9Melanocyte-Stimulating HormonesPhase 2, Phase 3132
10Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 312767
11Adrenocorticotropic HormonePhase 2, Phase 3155
12Respiratory System AgentsPhase 34818
13diureticsPhase 3, Phase 21372
14AnticoagulantsPhase 32516
15Chelating AgentsPhase 31365
16ExpectorantsPhase 3388
17Natriuretic AgentsPhase 3, Phase 21645
18Calcium, DietaryPhase 3, Phase 2, Phase 15525
19Pharmaceutical SolutionsPhase 37793
20Antihypertensive AgentsPhase 2, Phase 34095
21Sodium Chloride Symporter InhibitorsPhase 2, Phase 3446
22
Citric Acidnutraceutical, vet_approvedPhase 3110677-92-9311
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
23CitrateNutraceuticalPhase 31106
24
AmilorideapprovedPhase 2512016-88-8, 2609-46-316231
Synonyms:
17440-83-4 (hydrochloride)
1f5l
2016-88-8 (anhydrous hydrochloride)
2609-46-3
3,5-Diamino-N-(aminoiminomethyl)-6-chloropyrazinecarboxamide
3,5-Diamino-N-carbamimidoyl-6-chloropyrazine-2-carboxamide
3,5-diamino-6-chloro-N-(diaminomethylidene)pyrazine-2-carboxamide
3,5-diamino-N-[amino(imino)methyl]-6-chloropyrazine-2-carboxamide
3,5-diamino-N-carbamimidoyl-6-chloropyrazine-2-carboxamide
AB00053415
AC-13631
AC1L27IZ
AC1Q3POC
AMILORIDE
AMILORIDE (SEE ALSO: AMILORIDE HCL (2016-88-8))
Amiclaran
Amiclaran (TN)
Amikal (Hydrochloride dihydrate)
Amilorid
Amilorida
Amilorida [INN-Spanish]
Amiloride (INN)
Amiloride HCL
Amiloride [INN:BAN]
Amiloride hydrochloride hydrate
Amiloridum
Amiloridum [INN-Latin]
Amipramidin
Amipramidine
Amipramizid
Amipramizide
Amiprazidine
Amyloride
BCBcMAP01_000101
BIDD:GT0466
BPBio1_000015
BRD-K97181089-003-02-3
BRD-K97181089-310-03-0
BSPBio_000013
BSPBio_001572
BSPBio_001826
Bio1_000359
Bio1_000848
Bio1_001337
Bio2_000292
Bio2_000772
C06821
C6H8ClN7O
CCRIS 6545
CHEBI:2639
CHEMBL945
CID16231
CPD-10324
D07447
DB00594
DivK1c_000182
EINECS 220-024-7
Guanamprazin
 
Guanamprazine
HMS1791O14
HMS1989O14
HMS2089H05
IDI1_000182
IDI1_034042
KBio1_000182
KBio2_000292
KBio2_000394
KBio2_002860
KBio2_002962
KBio2_005428
KBio2_005530
KBio3_000583
KBio3_000584
KBio3_001326
KBioGR_000292
KBioGR_000544
KBioSS_000292
KBioSS_000394
LS-1094
Lopac-A-7410
Lopac0_000111
MK-870 (Hydrochloride dihydrate)
MLS000758249
MLS001060798
Midamor
Midamor (Hydrochloride dihydrate)
MolPort-005-934-472
MolPort-005-937-651
N-Amidino-3,5-diamino-6-chloropyrazinecarboxamide
N-Amidino-3,5-diamino-6-chlorpyrazincarboxamid
N-amidino-3,5-diamino-6-chloropyrazinecarboxamide
NCGC00015089-01
NCGC00015089-02
NCGC00015089-12
NCGC00024443-02
NCGC00024443-05
NCGC00024443-06
NCGC00024443-07
NCGC00024443-09
NINDS_000182
Prestwick0_000007
Prestwick1_000007
Prestwick2_000007
Prestwick3_000007
Pyrazinecarboxamide, 3,5-diamino-N-(aminoiminomethyl)-6-chloro-, monohydrochloride
SMR000449325
SMR000486264
SPBio_000136
SPBio_001934
ST079279
Spectrum2_000118
Spectrum3_000293
Spectrum4_000132
Spectrum5_000776
Spectrum_000034
Tocris-0890
UNII-7DZO8EB0Z3
ZINC04340269
25
Teriparatideapproved, investigationalPhase 213552232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
Forteo (TN)
 
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
Teriparatide recombinant human
26
Alfacalcidolapproved, nutraceuticalPhase 25241294-56-85282181
Synonyms:
(5Z,7e)-9,10-Seco-5,7,10(19)-cholestatrien-1alpha,3beta-diol
1-Hydroxycholecalciferol
1-hydroxycholecalciferol
1alpha-Hydroxy-vitamin D3
 
1alpha-hydroxycholecalciferol
1alpha-hydroxyvitamin D3
9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta-diol
Alfacalcidolum
Alsiodol
27Sodium Channel BlockersPhase 21515
28Trace ElementsPhase 25802
29MicronutrientsPhase 25802
30VitaminsPhase 25095
31HydroxycholecalciferolsPhase 2102
32Diuretics, Potassium SparingPhase 21827
33potassium phosphatePhase 1, Phase 211
34Phosphorus SupplementNutraceuticalPhase 1, Phase 24
35
Magnesium Sulfateapproved, vet_approved1687487-88-924083
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 salt
HSDB 664
Hair salt
Heptahydrate Magnesium Sulfate
Kieserite [as monohydrate]
LS-88605
M2643_SIGMA
M3409_SIGMA
 
M7506_SIAL
M8150_SIGMA
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
NSC 146179
OT-S
OT-S (drying agent)
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
36Peripheral Nervous System Agents22776
37Tocolytic Agents708
38Central Nervous System Depressants12806
39Anti-Arrhythmia Agents2969
40Analgesics11287
41Anesthetics9001
42Anticonvulsants2620
43calcium channel blockers1940

Interventional clinical trials:

(show all 14)
idNameStatusNCT IDPhase
1Study to Assess the Efficacy and Safety of Oral Potassium Citrate on the Prevention of Nephrocalcinosis in Extreme PrematureUnknown statusNCT01756547Phase 3
2ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot StudyUnknown statusNCT02155803Phase 2, Phase 3
3Alkaline Citrate Treatment to Lower the Risk of Nephrocalcinosis in Preterm InfantsCompletedNCT00249951Phase 3
4Effects of PTH Replacement on Bone in HypoparathyroidismActive, not recruitingNCT00395538Phase 3
5Treatment of Primary Hyperparathyroidism With Denosumab and Cinacalcet.Not yet recruitingNCT03027557Phase 3
6Dose-Dependent Effect of Thiazide in Dent's Disease HypercalciuriaTerminatedNCT00638482Phase 2, Phase 3
7Role Of Phosphorus And FGF 23 In Patients With Dent DiseaseRecruitingNCT02016235Phase 1, Phase 2
8Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Autosomal Dominant HypocalcemiaRecruitingNCT02824718Phase 2
9Renal Tubular Acidosis in Incident Renal Transplant RecipientsUnknown statusNCT01283880
10Preterm Infants and NephrocalcinosisRecruitingNCT02438267
11Search for New Genetic Causes of Hypercalcemia by Massively Parallel Sequencing of a Genes PanelRecruitingNCT02908542
12Randall's Plaque Study: Pathogenesis and Relationship to NephrolithiasisRecruitingNCT00169806
13Effect of Magnesium Sulfate Infusion Rate on Magnesium Retention in Critically Ill PatientsTerminatedNCT01426165
14International Registry for Primary HyperoxaluriaWithdrawnNCT00875823

Search NIH Clinical Center for Nephrocalcinosis


Cochrane evidence based reviews: nephrocalcinosis

Genetic Tests for Nephrocalcinosis

About this section

Genetic tests related to Nephrocalcinosis:

id Genetic test Affiliating Genes
1 Nephrocalcinosis27

Anatomical Context for Nephrocalcinosis

About this section

MalaCards organs/tissues related to Nephrocalcinosis:

36
Kidney, Bone, Thyroid, Liver, Heart, T cells, Small intestine

Publications for Nephrocalcinosis

About this section

Articles related to Nephrocalcinosis:

(show top 50)    (show all 564)
idTitleAuthorsYear
1
Medullary Nephrocalcinosis in a Furosemide Abuser. (28090060)
2017
2
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature. (27079129)
2016
3
Re: Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. (27479436)
2016
4
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. (26787776)
2016
5
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. (27530400)
2016
6
Nephrocalcinosis in Tunisian children. (27704510)
2016
7
Recent advances in managing and understanding nephrolithiasis/nephrocalcinosis. (27134735)
2016
8
Bilateral nephrocalcinosis in primary hyperoxaluria type 1. (27795638)
2016
9
A rare case of nephrocalcinosis in the distal tubules caused by hereditary renal hypouricemia three months after kidney transplantation. (26971588)
2016
10
Hashimoto Thyroiditis and Nephrocalcinosis in a Child with Down Syndrome. (27147809)
2016
11
Rare case of nephrocalcinosis in a 14-year-old girl: Answers. (27384692)
2016
12
Pseudoxanthoma elasticum and nephrocalcinosis. (27181788)
2016
13
Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency. (27378183)
2016
14
Bilateral Nephrocalcinosis in Primary Distal Renal Tubular Acidosis. (27090423)
2016
15
Lakes of Extramedullary Hematopoiesis in a Renal Hemangioma With Extensive Nephrocalcinosis. (27571793)
2016
16
A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family. (27067446)
2016
17
Rare case of nephrocalcinosis in a 14-year-old girl: Questions. (27384690)
2016
18
Osteopontin protects against high phosphate-induced nephrocalcinosis andA vascularA calcification. (27083280)
2016
19
Nephrocalcinosis and retinal dystrophy, rare manifestations of MPV17-related mitochondrial depletion syndrome? (27668186)
2016
20
Failure to thrive and nephrocalcinosis due to distal renal tubular acidosis: A rare presentation of pediatric lupus nephritis. (27900972)
2016
21
Hypercalcemia and nephrocalcinosis complicating subcutaneous fat necrosis in a newborn after therapeutic hypothermia. (27277205)
2016
22
Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair. (27007868)
2016
23
Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis. (27605580)
2016
24
Risk factors affecting the development of nephrocalcinosis, the most common complication of hypophosphatemic rickets. (26203600)
2015
25
Lots of steroids and vitamins, tons of complications. Hypercalcemia and nephrocalcinosis as important complications of performance-enhancing drugs. (26474528)
2015
26
Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis. (25720051)
2015
27
Bilateral nephrocalcinosis and amelogenesis imperfecta: A case report. (26097369)
2015
28
First Report of a Novel Missense CLDN19 Mutations Causing Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in a Chinese Family. (25555744)
2015
29
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics. (26613020)
2015
30
Re: Nephrocalcinosis is a Risk Factor for Kidney Failure in Primary Hyperoxaluria. (25765399)
2015
31
Microscopic nephrocalcinosis in chronic kidney disease patients. (25586405)
2015
32
Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations. (25477417)
2015
33
Nephrocalcinosis in Calcium Stone Formers Who Do Not have Systemic Disease. (25988516)
2015
34
Nephrolithiasis and Nephrocalcinosis in Children - Metabolic and Genetic Factors. (26540764)
2015
35
Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis. (26090995)
2015
36
Revisiting nephrocalcinosis: A single-center perspective. (26058976)
2015
37
Medullary nephrocalcinosis in Schimke immuno-osseous dysplasia. (25868949)
2015
38
Posttransplant nephrocalcinosis is associated with poor renal allograft function: a single-center experience. (25829877)
2015
39
Re: Loss-of-Function Mutations of CYP24A1, the Vitamin D 24-hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis. (26088734)
2015
40
Re: Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. (25986801)
2015
41
A Spectrum: Nephrocalcinosis-Nephrolithiasis. (26279238)
2015
42
An Association of Chronic Hyperaldosteronism with Medullary Nephrocalcinosis. (26413177)
2015
43
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. (25595726)
2015
44
What is nephrocalcinosis? (25807034)
2015
45
Renal Cysts and Nephrocalcinosis in a Patient Deficient in 11 beta-Hydroxylase Enzyme. (26309449)
2015
46
Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis. (26304832)
2015
47
Nephrocalcinosis in primary SjAPgren's syndrome. (25852876)
2014
48
Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice. (24732453)
2014
49
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. (24700880)
2014
50
Nephrocalcinosis associated with continuous enamel hypoplasia and severe alveolar bone loss: a case report and literature review. (24960394)
2014

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
49.1CLCNKB, KCNJ1, SLC12A1
5
Show member pathways
9.0ATP6V1B1, CLCN5, CLCNKB
6
Show member pathways
9.0ATP6V1B1, CLCNKB, SLC4A1
7
Show member pathways
8.4ATP6V1B1, CLCN5, CLCNKB, SLC12A1, SLC4A1

GO Terms for genes affiliated with Nephrocalcinosis

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Cellular components related to Nephrocalcinosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal matrixGO:00057829.7AGXT, GRHPR
2basolateral plasma membraneGO:00163239.7ATP6V1B1, CLDN19, SLC4A1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1calcium-independent cell-cell adhesion via plasma membrane cell-adhesion moleculesGO:001633810.6CLDN16, CLDN19
2glyoxylate metabolic processGO:004648710.5AGXT, GRHPR
3regulation of anion transmembrane transportGO:190395910.4CLCN5, CLCNKB
4calcium ion homeostasisGO:005507410.1ATP6V1B1, FAM20A
5chloride transmembrane transportGO:19024769.7CLCN5, CLCNKB, SLC12A1, SLC4A1
6ion transmembrane transportGO:00342209.4ATP6V1B1, CLCN5, CLCNKB, SLC12A1
7transportGO:00068109.3CLCN5, CLCNKB, SLC12A1
8excretionGO:00075888.7ATP6V1B1, CLCN5, CLCNKB, CLDN16, GRHPR, KCNJ1

Molecular functions related to Nephrocalcinosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chloride ion bindingGO:00314049.9CLCN5, CLCNKB
2voltage-gated chloride channel activityGO:00052479.7CLCN5, CLCNKB

Sources for Nephrocalcinosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet