MCID: NPH003
MIFTS: 49

Nephrocalcinosis

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Nephrocalcinosis

MalaCards integrated aliases for Nephrocalcinosis:

Name: Nephrocalcinosis 12 73 20 29 54 6 44 15 70
Hypercalcemic Nephropathy 20 70

Classifications:



External Ids:

Disease Ontology 12 DOID:12679
MeSH 44 D009397
NCIt 50 C84918
SNOMED-CT 67 154752005
UMLS 70 C0027709 C0152023

Summaries for Nephrocalcinosis

GARD : 20 Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to the condition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms 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. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys.

MalaCards based summary : Nephrocalcinosis, also known as hypercalcemic nephropathy, is related to hypomagnesemia 5, renal, with or without ocular involvement and idiopathic infantile hypercalcemia. An important gene associated with Nephrocalcinosis is ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin receptor recycling. The drugs Potassium citrate and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and liver, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 73 Nephrocalcinosis, once known as Albright's calcinosis after Fuller Albright, is a term originally used... more...

Related Diseases for Nephrocalcinosis

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

(show top 50) (show all 363)
# Related Disease Score Top Affiliating Genes
1 hypomagnesemia 5, renal, with or without ocular involvement 32.3 SLC12A1 KCNJ1 CLDN19 CLDN16
2 idiopathic infantile hypercalcemia 32.0 SLC34A1 CYP24A1
3 hypercalcemia, infantile, 1 31.8 SLC34A1 CYP24A1 CASR
4 distal renal tubular acidosis 31.8 SLC4A1 CA2 ATP6V1B1
5 hypocalcemia, autosomal dominant 1 31.8 CLDN16 CLCNKB CASR
6 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 31.7 SLC4A1 ATP6V1B1
7 bartter syndrome, type 2, antenatal 31.4 SLC12A1 KCNJ1 CASR
8 hypophosphatemic rickets, x-linked recessive 31.4 SLC34A1 PHEX OCRL CYP24A1 CLCN5
9 dent disease 1 31.3 SLC34A1 SLC12A1 OCRL KCNJ1 GRHPR CLDN16
10 bartter syndrome, type 1, antenatal 31.2 SLC12A1 KCNJ1 CLDN19 CLDN16 CASR
11 renal tubular acidosis 30.9 SLC4A1 OCRL CA2 ATP6V1B1
12 medullary sponge kidney 30.8 CLCN5 ATP6V1B1
13 bartter syndrome, type 3 30.7 SLC12A1 KCNJ1 CLDN19 CLDN16 CLCNKB CASR
14 idiopathic hypercalciuria 30.7 CLCN5 CASR
15 primary hyperoxaluria 30.6 SPP1 GRHPR AGXT
16 bartter disease 30.6 SLC34A1 SLC12A1 KCNJ1 CLDN19 CLDN16 CLCNKB
17 urolithiasis 30.5 SPP1 SLC3A1 CASR AGXT
18 metabolic acidosis 30.5 SLC4A1 CA2 ATP6V1B1
19 primary hypomagnesemia 30.4 SLC12A1 KCNJ1 CLDN19 CLDN16
20 hereditary distal renal tubular acidosis 30.4 SLC4A1 ATP6V1B1
21 end stage renal disease 30.3 SPP1 GRHPR CASR AGXT
22 hypercalciuria, absorptive, 2 30.2 KCNJ1 CLDN16 CLCN5 CASR
23 hypokalemia 30.2 SLC12A1 KCNJ1 CLCNKB CASR
24 rickets 30.2 SLC34A1 PHEX OCRL CYP24A1 CLCN5 CASR
25 fanconi syndrome 30.1 SLC34A1 PHEX OCRL CLCN5
26 hypophosphatemic rickets with hypercalciuria, hereditary 30.1 SLC34A1 PHEX
27 hypophosphatemia 30.0 SPP1 SLC34A1 PHEX OCRL CLCN5
28 secondary hyperparathyroidism 30.0 PHEX CYP24A1 CASR
29 aminoaciduria 30.0 SLC3A1 SLC34A1 OCRL CLCN5
30 diabetes insipidus, nephrogenic, autosomal 29.9 SLC12A1 KCNJ1 CLCNKB CASR
31 osteomalacia 29.8 SLC34A1 PHEX CYP24A1 CLCN5 CASR
32 antenatal bartter syndrome 29.8 SLC12A1 KCNJ1
33 hyperphosphatemia 29.8 SPP1 SLC34A1 PHEX CASR
34 hypophosphatemic rickets, x-linked dominant 29.8 SPP1 SLC34A1 PHEX CYP24A1
35 polyhydramnios 29.7 SLC12A1 KCNJ1 CLCNKB
36 cystinuria 29.3 SLC3A1 OCRL GRHPR CLDN16 CLCN5 CASR
37 gitelman syndrome 29.2 SLC12A1 KCNJ1 CLDN16 CLCNKB CASR
38 nephrolithiasis, calcium oxalate 29.1 SPP1 SLC3A1 SLC34A1 SLC12A1 GRHPR CLDN19
39 nephrolithiasis 28.7 SPP1 SLC4A1 SLC3A1 SLC34A1 SLC12A1 KCNJ1
40 hypertension, essential 28.6 SPP1 SLC34A1 SLC12A1 KCNJ1 CLCNKB CASR
41 mineral metabolism disease 28.2 SPP1 SLC34A1 SLC12A1 PHEX KCNJ1 CYP24A1
42 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 11.6
43 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.5
44 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 11.5
45 hypomagnesemia 3, renal 11.5
46 amelogenesis imperfecta, type ig 11.5
47 amelogenesis imperfecta hypoplastic type, ig 11.5
48 blue diaper syndrome 11.3
49 short syndrome 11.0
50 nephrolithiasis, x-linked recessive, with renal failure 11.0

Graphical network of the top 20 diseases related to Nephrocalcinosis:



Diseases related to Nephrocalcinosis

Symptoms & Phenotypes for Nephrocalcinosis

GenomeRNAi Phenotypes related to Nephrocalcinosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.4 AGXT CA2 CYP24A1 GRHPR KCNJ1 SLC12A1
2 Decreased viability GR00381-A-1 9.4 AGXT GRHPR
3 Decreased viability GR00402-S-2 9.4 CLDN16 GRHPR SLC12A1

MGI Mouse Phenotypes related to Nephrocalcinosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.11 AGXT ATP6V1B1 CA2 CASR CLCN5 CLCNKB
2 growth/size/body region MP:0005378 10.1 ATP6V1B1 CA2 CASR CLCN5 CYP24A1 FAM20A
3 renal/urinary system MP:0005367 9.91 AGXT ATP6V1B1 CA2 CASR CLCN5 CLCNKB
4 skeleton MP:0005390 9.36 ATP6V1B1 CA2 CASR CLCN5 CYP24A1 FAM20A

Drugs & Therapeutics for Nephrocalcinosis

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Potassium citrate Approved, Investigational, Vet_approved Phase 3 866-84-2
2
Sodium citrate Approved, Investigational Phase 3 68-04-2
3
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
4
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
5
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
6
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
7 Adrenocorticotropic Hormone Phase 2, Phase 3
8 Melanocyte-Stimulating Hormones Phase 2, Phase 3
9 Endorphins Phase 2, Phase 3
10 Neurotransmitter Agents Phase 2, Phase 3
11 beta-Endorphin Phase 2, Phase 3
12 Respiratory System Agents Phase 3
13 Expectorants Phase 3
14 diuretics Phase 3
15 Pharmaceutical Solutions Phase 3
16 Citrate Phase 3
17 Hormones Phase 3
18 Hormone Antagonists Phase 3
19 Dihydroxycholecalciferols Phase 3
20 Antifungal Agents Phase 3
21 Anti-Infective Agents Phase 3
22 Cytochrome P-450 Enzyme Inhibitors Phase 3
23
Rifampicin Approved Phase 2 13292-46-1 5458213 5381226
24 Anti-Bacterial Agents Phase 2
25 Antibiotics, Antitubercular Phase 2
26 Antitubercular Agents Phase 2

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
2 Study to Assess the Efficacy and Safety of Oral Potassium Citrate on the Prevention of Nephrocalcinosis in Extreme Premature. Unknown status NCT01756547 Phase 3 Potassium Citrate;Placebo
3 Alkaline Citrate Treatment to Lower the Risk of Nephrocalcinosis in Preterm Infants Completed NCT00249951 Phase 3 Alkaline citrate
4 Fluconazole as a New Therapeutic Tool in Hypercalciuric Patients With Increased 1,25(OH)2D Levels Recruiting NCT04495608 Phase 3 Fluconazole;Placebo
5 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene Recruiting NCT03301038 Phase 2 Rifampin
6 Renal Tubular Acidosis in Incident Renal Transplant Recipients Unknown status NCT01283880
7 Preterm Infants and Nephrocalcinosis: Diagnosis and Pathogenesis Completed NCT02438267
8 The Incidence and the Risk Factors of Nephrocalcinosis in Very Preterm Infants at the Neonatology Centre of Vilnius University Hospital Santaros Klinikos Recruiting NCT04382976
9 Randall's Plaques: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806
10 A Natural History Study of Patients With Genetically Confirmed Primary Hyperoxaluria Type 3 With a History of Stone Events Not yet recruiting NCT04542590
11 International Registry for Hereditary Calcium Stone Diseases Withdrawn NCT00875823

Search NIH Clinical Center for Nephrocalcinosis

Cochrane evidence based reviews: nephrocalcinosis

Genetic Tests for Nephrocalcinosis

Genetic tests related to Nephrocalcinosis:

# Genetic test Affiliating Genes
1 Nephrocalcinosis 29

Anatomical Context for Nephrocalcinosis

MalaCards organs/tissues related to Nephrocalcinosis:

40
Kidney, Bone, Liver, Heart, Bone Marrow, Cortex, Spinal Cord

Publications for Nephrocalcinosis

Articles related to Nephrocalcinosis:

(show top 50) (show all 2527)
# Title Authors PMID Year
1
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 61 6
28893421 2018
2
Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium. 54 61
19706394 2009
3
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family. 61 54
19165416 2009
4
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. 61 54
19096086 2009
5
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling. 61 54
19296982 2009
6
Analysis of claudin genes in pediatric patients with Bartter's syndrome. 54 61
19538297 2009
7
A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet. 61 54
18775977 2008
8
Salt and acid-base metabolism in claudin-16 knockdown mice: impact for the pathophysiology of FHHNC patients. 61 54
18784260 2008
9
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene. 61 54
18816383 2008
10
Molecular determinants of magnesium homeostasis: insights from human disease. 54 61
18562569 2008
11
Hypercalciuria revisited: one or many conditions? 54 61
17943325 2008
12
Preliminary observations of urinary calcium and osteopontin excretion in premature infants, term infants and adults. 61 54
18025797 2008
13
[Calcium-sensing receptor and hypoparathyroidism]. 54 61
17660614 2007
14
Transgenic RNAi depletion of claudin-16 and the renal handling of magnesium. 54 61
17442678 2007
15
Hypomagnesemia and nephrocalcinosis in a patient with two heterozygous mutations in the CLDN16 gene. 61 54
17347984 2007
16
Hypercalciuria in patients with CLCN5 mutations. 54 61
16807762 2006
17
Unusual clinical presentation and possible rescue of a novel claudin-16 mutation. 54 61
16705067 2006
18
Hydrochlorothiazide in CLDN16 mutation. 54 61
16595585 2006
19
A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone. 54 61
16608894 2006
20
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail. 54 61
16501001 2006
21
Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16. 54 61
16528408 2006
22
An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of Paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics. 61 54
16804318 2006
23
Paracellin-1 and the modulation of ion selectivity of tight junctions. 54 61
16234325 2005
24
The role of preemptive liver transplantation in primary hyperoxaluria type 1. 54 61
16284878 2005
25
Preconditioning of the distal tubular epithelium of the human kidney precedes nephrocalcinosis. 61 54
16164641 2005
26
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations. 61 54
16047219 2005
27
Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study. 61 54
15856319 2005
28
Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization. 61 54
15895257 2005
29
Phenotype and genotype of Dent's disease in three Korean boys. 61 54
15719255 2005
30
Screening for CLCN5 mutation in renal calcium stone formers patients. 54 61
15692680 2005
31
The diagnostic role of urinary N-acetyl-beta-D-glucosaminidase (NAG) activity in the detection of renal tubular impairment. 54 61
16259316 2005
32
Examination of megalin in renal tubular epithelium from patients with Dent disease. 54 61
15052463 2004
33
A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis. 54 61
14654610 2003
34
A role for CBS domain 2 in trafficking of chloride channel CLC-5. 61 54
14521953 2003
35
Urinary NAG in children with urolithiasis, nephrocalcinosis, or risk of urolithiasis. 61 54
12920632 2003
36
Renal calcification in mice homozygous for the disrupted type IIa Na/Pi cotransporter gene Npt2. 54 61
12674325 2003
37
Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss. 54 61
12584272 2003
38
Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene. 54 61
12185465 2002
39
Primary gene structure and expression studies of rodent paracellin-1. 54 61
11729235 2001
40
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. 54 61
10906158 2000
41
Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1. 54 61
10933316 2000
42
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. 54 61
10878661 2000
43
Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. 61 54
10720930 2000
44
CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis. 61 54
9734595 1998
45
Molecular biology and clinical importance of the Ca(2+)-sensing receptor. 61 54
9757371 1998
46
X-linked recessive nephrolithiasis: presentation and diagnosis in children. 54 61
9602200 1998
47
Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. 54 61
9596078 1998
48
Straightening out the renal tubule: advances in the molecular basis of the inherited tubulopathies. 61 54
9519207 1998
49
Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome. 54 61
9453381 1997
50
Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. 54 61
9328929 1997

Variations for Nephrocalcinosis

ClinVar genetic disease variations for Nephrocalcinosis:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP6V1B1 NM_001692.4(ATP6V1B1):c.175-1G>C SNV Pathogenic 638151 rs1572919267 GRCh37: 2:71185175-71185175
GRCh38: 2:70958045-70958045
2 SLC12A1 NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) Deletion Likely pathogenic 265999 rs779588655 GRCh37: 15:48527143-48527143
GRCh38: 15:48234946-48234946
3 SLC34A1 NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile) SNV Likely pathogenic 548679 rs201331677 GRCh37: 5:176825091-176825091
GRCh38: 5:177398090-177398090
4 AGXT NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) SNV Likely pathogenic 5644 rs121908523 GRCh37: 2:241808403-241808403
GRCh38: 2:240868986-240868986
5 AGXT NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) SNV Likely pathogenic 5646 rs121908525 GRCh37: 2:241814576-241814576
GRCh38: 2:240875159-240875159
6 AGXT NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) SNV Likely pathogenic 204105 rs180177227 GRCh37: 2:241810823-241810823
GRCh38: 2:240871406-240871406
7 GRHPR NM_012203.2(GRHPR):c.103del (p.Asp35fs) Deletion Likely pathogenic 5636 rs80356708 GRCh37: 9:37424859-37424859
GRCh38: 9:37424862-37424862
8 AGXT NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro) SNV Likely pathogenic 548671 rs180177161 GRCh37: 2:241818138-241818138
GRCh38: 2:240878721-240878721
9 ATP6V1B1 NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) SNV Likely pathogenic 12228 rs121964880 GRCh37: 2:71185243-71185243
GRCh38: 2:70958113-70958113
10 CLDN16 NM_006580.3(CLDN16):c.695T>G (p.Phe232Cys) SNV Likely pathogenic 5931 rs104893726 GRCh37: 3:190126205-190126205
GRCh38: 3:190408416-190408416
11 CLDN19 NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser) SNV Likely pathogenic 548672 rs145591298 GRCh37: 1:43201640-43201640
GRCh38: 1:42735969-42735969
12 GRHPR NM_012203.2(GRHPR):c.404+5G>A SNV Likely pathogenic 548673 rs757796926 GRCh37: 9:37426656-37426656
GRCh38: 9:37426659-37426659
13 SLC3A1 NM_000341.4(SLC3A1):c.592del (p.Ala198fs) Deletion Likely pathogenic 548674 rs778000327 GRCh37: 2:44508016-44508016
GRCh38: 2:44280877-44280877
14 SLC12A1 NM_000338.3(SLC12A1):c.769G>A (p.Gly257Ser) SNV Likely pathogenic 548675 rs896545456 GRCh37: 15:48521430-48521430
GRCh38: 15:48229233-48229233
15 SLC12A1 NM_000338.3(SLC12A1):c.1424G>A (p.Cys475Tyr) SNV Likely pathogenic 548676 rs1555466999 GRCh37: 15:48537073-48537073
GRCh38: 15:48244876-48244876
16 SLC34A1 NM_003052.5(SLC34A1):c.644+1G>A SNV Likely pathogenic 234926 rs201304511 GRCh37: 5:176814875-176814875
GRCh38: 5:177387874-177387874
17 SLC34A1 NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) SNV Likely pathogenic 548678 rs376131751 GRCh37: 5:176823763-176823763
GRCh38: 5:177396762-177396762
18 SLC34A1 NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) SNV Likely pathogenic 352960 rs148976897 GRCh37: 5:176813433-176813433
GRCh38: 5:177386432-177386432
19 SLC34A1 NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro) SNV Likely pathogenic 548680 rs142772770 GRCh37: 5:176814766-176814766
GRCh38: 5:177387765-177387765
20 SLC34A1 NM_003052.5(SLC34A1):c.1715G>A (p.Trp572Ter) SNV Uncertain significance 988206 GRCh37: 5:176825082-176825082
GRCh38: 5:177398081-177398081

Expression for Nephrocalcinosis

Search GEO for disease gene expression data for Nephrocalcinosis.

Pathways for Nephrocalcinosis

Pathways related to Nephrocalcinosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 SLC4A1 SLC3A1 SLC34A1 SLC12A1 CLCNKB CLCN5
2
Show member pathways
12.01 SLC4A1 CLCNKB CA2 ATP6V1B1
3 11.52 SLC34A1 CYP24A1 CASR
4 10.79 SPP1 CYP24A1 CA2
5 10.26 SLC12A1 KCNJ1 CLCNKB

GO Terms for Nephrocalcinosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.86 SPP1 SLC4A1 SLC3A1 SLC12A1 GRHPR FAM20A
2 plasma membrane GO:0005886 9.77 SLC4A1 SLC3A1 SLC34A1 SLC12A1 PHEX OCRL
3 integral component of plasma membrane GO:0005887 9.7 SLC4A1 SLC3A1 SLC34A1 PHEX CLCNKB CLCN5
4 apical plasma membrane GO:0016324 9.62 SLC34A1 SLC12A1 CASR ATP6V1B1
5 basolateral plasma membrane GO:0016323 9.02 SLC4A1 CLDN19 CASR CA2 ATP6V1B1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.8 SLC12A1 KCNJ1 CLCNKB CLCN5 ATP6V1B1
2 ion transport GO:0006811 9.76 SLC4A1 SLC34A1 SLC12A1 KCNJ1 CLDN16 CLCNKB
3 chloride transport GO:0006821 9.67 SLC4A1 CLCNKB CLCN5
4 ossification GO:0001503 9.62 SPP1 SLC34A1 CASR ATP6V1B1
5 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.57 CLDN19 CLDN16
6 positive regulation of bone resorption GO:0045780 9.56 SPP1 CA2
7 potassium ion homeostasis GO:0055075 9.55 SLC12A1 ATP6V1B1
8 response to growth hormone GO:0060416 9.54 SLC34A1 PHEX
9 biomineral tissue development GO:0031214 9.54 SPP1 PHEX FAM20A
10 cellular response to vitamin D GO:0071305 9.52 PHEX CASR
11 chloride ion homeostasis GO:0055064 9.51 SLC12A1 ATP6V1B1
12 cellular response to parathyroid hormone stimulus GO:0071374 9.48 SLC34A1 PHEX
13 cellular nitrogen compound metabolic process GO:0034641 9.46 GRHPR AGXT
14 glyoxylate metabolic process GO:0046487 9.43 GRHPR AGXT
15 response to vitamin D GO:0033280 9.43 SPP1 PHEX CYP24A1
16 chloride transmembrane transport GO:1902476 9.35 SLC4A1 SLC12A1 CLCNKB CLCN5 CASR
17 excretion GO:0007588 9.1 KCNJ1 GRHPR CLDN16 CLCNKB CLCN5 ATP6V1B1

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

# Name GO ID Score Top Affiliating Genes
1 amino acid binding GO:0016597 8.96 CASR AGXT
2 voltage-gated chloride channel activity GO:0005247 8.62 CLCNKB CLCN5

Sources for Nephrocalcinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....