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Nephrocalcinosis

Categories: Nephrological diseases, Rare diseases
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Aliases & Classifications for Nephrocalcinosis

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MalaCards integrated aliases for Nephrocalcinosis:

Name: Nephrocalcinosis 11 19 75 28 53 5 43 14 71 33
Hypercalcemic Nephropathy 19 71

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD11: 33


External Ids:

Disease Ontology 11 DOID:12679
MeSH 43 D009397
NCIt 49 C84918
SNOMED-CT 68 154752005
ICD11 33 1359282431
UMLS 71 C0027709 C0152023
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Summaries for Nephrocalcinosis

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GARD: 19 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.

MalaCards based summary: Nephrocalcinosis, also known as hypercalcemic nephropathy, is related to hypomagnesemia 3, renal and hypomagnesemia 5, renal, with or without ocular involvement. An important gene associated with Nephrocalcinosis is ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Disorders of transmembrane transporters. 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 renal/urinary system and homeostasis/metabolism

Wikipedia: 75 Nephrocalcinosis, once known as Albright's calcinosis after Fuller Albright, is a term originally used... more...
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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 415)
# Related Disease Score Top Affiliating Genes
1 hypomagnesemia 3, renal 32.8 KCNJ1 CLDN19 CLDN16
2 hypomagnesemia 5, renal, with or without ocular involvement 32.6 SLC12A1 KCNJ1 CLDN19 CLDN16
3 idiopathic infantile hypercalcemia 32.2 SLC34A1 CYP24A1
4 hypocalcemia, autosomal dominant 1 32.1 CYP24A1 CLDN16 CASR
5 dent disease 1 32.0 SLC34A3 SLC34A1 SLC12A1 OCRL KCNJ1 CLCNKB
6 hypercalcemia, infantile, 1 31.9 SLC34A1 CYP24A1 CASR
7 bartter syndrome, type 4a, neonatal, with sensorineural deafness 31.8 SLC12A1 KCNJ1 CLCNKB
8 hyperoxaluria, primary, type iii 31.7 GRHPR AGXT
9 hyperoxaluria, primary, type ii 31.7 GRHPR AGXT
10 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 31.7 SLC4A1 ATP6V1B1
11 hypophosphatemic rickets, x-linked recessive 31.6 SLC34A3 SLC34A1 OCRL CYP24A1 CLDN16 CLCN5
12 primary hyperoxaluria 31.6 SPP1 GRHPR AGXT
13 bartter syndrome, type 2, antenatal 31.5 SLC12A1 KCNJ1 CLCNKB CASR
14 bartter disease 31.4 SLC12A1 KCNJ1 CLDN19 CLDN16 CLCNKB CLCN5
15 distal renal tubular acidosis 31.1 SLC4A1 CA2 ATP6V1B1
16 urolithiasis 31.0 SPP1 CASR AGXT
17 nephrolithiasis, calcium oxalate 30.9 SPP1 SLC34A1 GRHPR CLCN5 CASR AGXT
18 renal tubular acidosis 30.9 SLC4A1 SLC12A1 OCRL CLDN16 CLCN5 CA2
19 bartter syndrome, type 1, antenatal 30.8 SLC12A1 KCNJ1 CTXN2-AS1 CLDN19 CLDN16 CLCNKB
20 chronic kidney disease 30.7 SPP1 CLDN16 CASR AGXT
21 metabolic acidosis 30.6 SLC4A1 CA2 ATP6V1B1
22 hypokalemia 30.6 SLC12A1 KCNJ1 CLCNKB CASR ATP6V1B1
23 diabetes insipidus 30.5 SLC12A1 CLCNKB CASR
24 rickets 30.5 SPP1 SLC34A3 SLC34A1 OCRL CYP24A1 CLCN5
25 primary hypomagnesemia 30.5 SLC12A1 KCNJ1 CLDN19 CLDN16
26 hypophosphatemia 30.5 SPP1 SLC34A3 SLC34A1 OCRL CLCN5
27 kidney disease 30.5 SPP1 SLC12A1 CLDN16 CLCN5 CASR CA2
28 hypophosphatemic rickets, x-linked dominant 30.5 SPP1 SLC34A3 SLC34A1 CYP24A1
29 conn's syndrome 30.5 SLC12A1 KCNJ1 CLCNKB CASR
30 hyperphosphatemia 30.4 SPP1 SLC34A1 CASR
31 hypercalciuria, absorptive, 2 30.3 SLC34A3 CLDN16 CLCN5 CASR
32 osteomalacia 30.3 SLC34A3 SLC34A1 CYP24A1 CASR
33 nephrogenic diabetes insipidus 30.3 SLC12A1 KCNJ1 CLCNKB CASR
34 fanconi syndrome 30.2 SLC34A3 SLC34A1 OCRL CLCN5 ATP6V1B1
35 hypophosphatemic rickets with hypercalciuria, hereditary 30.0 SLC34A3 SLC34A1 OCRL CYP24A1 CLCN5
36 polyhydramnios 30.0 SLC12A1 KCNJ1 CLCNKB
37 sensorineural hearing loss 30.0 SLC12A1 KCNJ1 CLCNKB CASR ATP6V1B1
38 hypomagnesemia 1, intestinal 30.0 CLDN19 CLDN16
39 osteopetrosis, autosomal recessive 3 29.9 SLC4A1 CA2 ATP6V1B1
40 vitamin d-dependent rickets 29.8 SLC34A3 SLC34A1 CYP24A1
41 hereditary elliptocytosis 29.8 SLC4A1 CA2 ATP6V1B1
42 liddle syndrome 1 29.8 SLC12A1 KCNJ1 CLCNKB
43 aminoaciduria 29.8 SLC3A1 SLC34A1 OCRL CLCN5
44 gitelman syndrome 29.6 SLC12A1 KCNJ1 CLDN16 CLCNKB CASR
45 bartter syndrome, type 3 29.5 SLC12A1 KCNJ1 CLDN19 CLDN16 CLCNKB CASR
46 cystinuria 29.5 SLC3A1 SLC34A1 GRHPR CLDN16 CLCN5 AGXT
47 hypertension, essential 29.2 SPP1 SLC34A1 SLC12A1 KCNJ1 CLCNKB CASR
48 mineral metabolism disease 29.0 SPP1 SLC34A3 SLC34A1 SLC12A1 KCNJ1 CYP24A1
49 nephrolithiasis 28.3 SPP1 SLC4A1 SLC3A1 SLC34A3 SLC34A1 SLC12A1
50 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 11.6

Graphical network of the top 20 diseases related to Nephrocalcinosis:



Diseases related to Nephrocalcinosis
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Symptoms & Phenotypes for Nephrocalcinosis

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 AGXT ATP6V1B1 CA2 CASR CLCN5 CLCNKB
2 no effect GR00402-S-2 10.17 AGXT ATP6V1B1 CA2 CASR CLCN5 CLCNKB

MGI Mouse Phenotypes related to Nephrocalcinosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 10.21 AGXT ATP6V1B1 CA2 CASR CLCN5 CLCNKB
2 homeostasis/metabolism MP:0005376 10.11 AGXT ATP6V1B1 CA2 CASR CLCN5 CLCNKB
3 growth/size/body region MP:0005378 9.86 ATP6V1B1 CA2 CASR CLCN5 CLCNKB CLDN19
4 skeleton MP:0005390 9.4 ATP6V1B1 CA2 CASR CLCN5 CLCNKB CYP24A1
Sources

Drugs & Therapeutics for Nephrocalcinosis

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

(show all 17)
# 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 23431961
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
4 Expectorants Phase 3
5 Respiratory System Agents Phase 3
6 diuretics Phase 3
7 Pharmaceutical Solutions Phase 3
8 Citrate Phase 3
9
Fluconazole Approved, Investigational Phase 2 86386-73-4 3365
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
12 Dihydroxycholecalciferols Phase 2
13 Hormones Phase 2
14 Anti-Infective Agents Phase 2
15 Hormone Antagonists Phase 2
16 Antifungal Agents Phase 2
17 Cytochrome P-450 Enzyme Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Alkaline Citrate Treatment to Lower the Risk of Nephrocalcinosis in Preterm Infants Completed NCT00249951 Phase 3 Alkaline citrate
3 Fluconazole as a New Therapeutic Tool in Hypercalciuric Patients With Increased 1,25(OH)2D Levels Recruiting NCT04495608 Phase 2 Fluconazole;Placebo
4 The Incidence and the Risk Factors of Nephrocalcinosis in Very Preterm Infants at the Neonatology Centre of Vilnius University Hospital Santaros Klinikos Completed NCT04382976
5 Preterm Infants and Nephrocalcinosis: Diagnosis and Pathogenesis Completed NCT02438267
6 Nephrocalcinosis in Very Low Birth Weight Infants: an Observational Study Completed NCT04860583
7 Randall's Plaques: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806
8 International Registry for Hereditary Calcium Stone Diseases Withdrawn NCT00875823

Search NIH Clinical Center for Nephrocalcinosis

Cochrane evidence based reviews: nephrocalcinosis

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Genetic Tests for Nephrocalcinosis

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Genetic tests related to Nephrocalcinosis:

# Genetic test Affiliating Genes
1 Nephrocalcinosis 28
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Anatomical Context for Nephrocalcinosis

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Organs/tissues related to Nephrocalcinosis:

MalaCards : Kidney, Bone, Liver, Bone Marrow, Spinal Cord, Thyroid, Adrenal Cortex
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Publications for Nephrocalcinosis

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Articles related to Nephrocalcinosis:

(show top 50) (show all 2731)
# Title Authors PMID Year
1
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 62 5
28893421 2018
2
Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium. 53 62
19706394 2009
3
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family. 53 62
19165416 2009
4
Analysis of claudin genes in pediatric patients with Bartter's syndrome. 53 62
19538297 2009
5
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. 53 62
19096086 2009
6
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling. 53 62
19296982 2009
7
Salt and acid-base metabolism in claudin-16 knockdown mice: impact for the pathophysiology of FHHNC patients. 53 62
18784260 2008
8
A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet. 53 62
18775977 2008
9
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene. 53 62
18816383 2008
10
Molecular determinants of magnesium homeostasis: insights from human disease. 53 62
18562569 2008
11
Hypercalciuria revisited: one or many conditions? 53 62
17943325 2008
12
Preliminary observations of urinary calcium and osteopontin excretion in premature infants, term infants and adults. 53 62
18025797 2008
13
[Calcium-sensing receptor and hypoparathyroidism]. 53 62
17660614 2007
14
Transgenic RNAi depletion of claudin-16 and the renal handling of magnesium. 53 62
17442678 2007
15
Hypomagnesemia and nephrocalcinosis in a patient with two heterozygous mutations in the CLDN16 gene. 53 62
17347984 2007
16
Hypercalciuria in patients with CLCN5 mutations. 53 62
16807762 2006
17
Unusual clinical presentation and possible rescue of a novel claudin-16 mutation. 53 62
16705067 2006
18
Hydrochlorothiazide in CLDN16 mutation. 53 62
16595585 2006
19
A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone. 53 62
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. 53 62
16501001 2006
21
Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16. 53 62
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. 53 62
16804318 2006
23
Paracellin-1 and the modulation of ion selectivity of tight junctions. 53 62
16234325 2005
24
The role of preemptive liver transplantation in primary hyperoxaluria type 1. 53 62
16284878 2005
25
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations. 53 62
16047219 2005
26
Preconditioning of the distal tubular epithelium of the human kidney precedes nephrocalcinosis. 53 62
16164641 2005
27
Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization. 53 62
15895257 2005
28
Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study. 53 62
15856319 2005
29
Phenotype and genotype of Dent's disease in three Korean boys. 53 62
15719255 2005
30
Screening for CLCN5 mutation in renal calcium stone formers patients. 53 62
15692680 2005
31
The diagnostic role of urinary N-acetyl-beta-D-glucosaminidase (NAG) activity in the detection of renal tubular impairment. 53 62
16259316 2005
32
Examination of megalin in renal tubular epithelium from patients with Dent disease. 53 62
15052463 2004
33
A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis. 53 62
14654610 2003
34
A role for CBS domain 2 in trafficking of chloride channel CLC-5. 53 62
14521953 2003
35
Urinary NAG in children with urolithiasis, nephrocalcinosis, or risk of urolithiasis. 53 62
12920632 2003
36
Renal calcification in mice homozygous for the disrupted type IIa Na/Pi cotransporter gene Npt2. 53 62
12674325 2003
37
Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss. 53 62
12584272 2003
38
Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene. 53 62
12185465 2002
39
Primary gene structure and expression studies of rodent paracellin-1. 53 62
11729235 2001
40
Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1. 53 62
10933316 2000
41
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. 53 62
10906158 2000
42
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. 53 62
10878661 2000
43
Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. 53 62
10720930 2000
44
CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis. 53 62
9734595 1998
45
Molecular biology and clinical importance of the Ca(2+)-sensing receptor. 53 62
9757371 1998
46
X-linked recessive nephrolithiasis: presentation and diagnosis in children. 53 62
9602200 1998
47
Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. 53 62
9596078 1998
48
Straightening out the renal tubule: advances in the molecular basis of the inherited tubulopathies. 53 62
9519207 1998
49
Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome. 53 62
9453381 1997
50
Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. 53 62
9328929 1997
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Variations for Nephrocalcinosis

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ClinVar genetic disease variations for Nephrocalcinosis:

5 (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 GRHPR NM_012203.2(GRHPR):c.103del (p.Asp35fs) DEL Likely Pathogenic
 5636 rs80356708 GRCh37: 9:37424859-37424859
GRCh38: 9:37424862-37424862
3 AGXT NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) SNV Likely Pathogenic
 5644 rs121908523 GRCh37: 2:241808403-241808403
GRCh38: 2:240868986-240868986
4 AGXT NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) SNV Likely Pathogenic
 5646 rs121908525 GRCh37: 2:241814576-241814576
GRCh38: 2:240875159-240875159
5 AGXT NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) SNV Likely Pathogenic
 204105 rs180177227 GRCh37: 2:241810823-241810823
GRCh38: 2:240871406-240871406
6 ATP6V1B1 NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) SNV Likely Pathogenic
 12228 rs121964880 GRCh37: 2:71185243-71185243
GRCh38: 2:70958113-70958113
7 SLC34A1 NM_003052.5(SLC34A1):c.644+1G>A SNV Likely Pathogenic
 234926 rs201304511 GRCh37: 5:176814875-176814875
GRCh38: 5:177387874-177387874
8 GRHPR NM_012203.2(GRHPR):c.404+5G>A SNV Likely Pathogenic
 548673 rs757796926 GRCh37: 9:37426656-37426656
GRCh38: 9:37426659-37426659
9 CTXN2-AS1, SLC12A1 NM_000338.3(SLC12A1):c.769G>A (p.Gly257Ser) SNV Likely Pathogenic
 548675 rs896545456 GRCh37: 15:48521430-48521430
GRCh38: 15:48229233-48229233
10 SLC34A1 NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile) SNV Likely Pathogenic
 548679 rs201331677 GRCh37: 5:176825091-176825091
GRCh38: 5:177398090-177398090
11 SLC34A1 NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) SNV Likely Pathogenic
 352960 rs148976897 GRCh37: 5:176813433-176813433
GRCh38: 5:177386432-177386432
12 SLC34A1 NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro) SNV Likely Pathogenic
 548680 rs142772770 GRCh37: 5:176814766-176814766
GRCh38: 5:177387765-177387765
13 AGXT NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro) SNV Likely Pathogenic
 548671 rs180177161 GRCh37: 2:241818138-241818138
GRCh38: 2:240878721-240878721
14 CLDN16 NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys) SNV Likely Pathogenic
 5931 rs104893726 GRCh37: 3:190126205-190126205
GRCh38: 3:190408416-190408416
15 CLDN19 NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser) SNV Likely Pathogenic
 548672 rs145591298 GRCh37: 1:43201640-43201640
GRCh38: 1:42735969-42735969
16 SLC3A1 NM_000341.4(SLC3A1):c.592del (p.Ala198fs) DEL Likely Pathogenic
 548674 rs778000327 GRCh37: 2:44508016-44508016
GRCh38: 2:44280877-44280877
17 SLC12A1 NM_000338.3(SLC12A1):c.1424G>A (p.Cys475Tyr) SNV Likely Pathogenic
 548676 rs1555466999 GRCh37: 15:48537073-48537073
GRCh38: 15:48244876-48244876
18 SLC12A1 NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) DEL Likely Pathogenic
 265999 rs779588655 GRCh37: 15:48527143-48527143
GRCh38: 15:48234946-48234946
19 SLC34A1 NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) SNV Likely Pathogenic
 548678 rs376131751 GRCh37: 5:176823763-176823763
GRCh38: 5:177396762-177396762
20 SLC34A1 NM_003052.5(SLC34A1):c.1715G>A (p.Trp572Ter) SNV Uncertain Significance
 988206 rs753244775 GRCh37: 5:176825082-176825082
GRCh38: 5:177398081-177398081
Sources

Expression for Nephrocalcinosis

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Search GEO for disease gene expression data for Nephrocalcinosis.
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Pathways for Nephrocalcinosis

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Pathways related to Nephrocalcinosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transport of inorganic cations/anions and amino acids/oligopeptides 66
Show member pathways
 12.94 SLC4A1 SLC3A1 SLC34A3 SLC34A1 SLC12A1 CLCNKB
2
Disorders of transmembrane transporters 66
Show member pathways
 12.09 SLC4A1 SLC3A1 SLC34A3 SLC34A1 SLC12A1
3
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.2 SPP1 CYP24A1 CA2
4
Diuretics Pathway, Pharmacodynamics 60
10.96 SLC12A1 KCNJ1 CLCNKB
5
4-hydroxyproline degradation 61
Show member pathways
 10.8 GRHPR AGXT
6
Proximal tubule transport 74
10.78 SLC3A1 SLC34A3 SLC34A1 CA2 ATP6V1B1
Sources

GO Terms for Nephrocalcinosis

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

# Name GO ID Score Top Affiliating Genes
1 brush border membrane GO:0031526 9.43 SLC3A1 SLC34A3 SLC34A1
2 apical plasma membrane GO:0016324 9.4 SLC3A1 SLC34A3 SLC34A1 SLC12A1 CASR ATP6V1B1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10 SLC4A1 SLC34A3 SLC12A1 CLCNKB CLCN5
2 monoatomic ion transmembrane transport GO:0034220 9.97 SLC12A1 KCNJ1 CLCNKB CLCN5
3 chloride transport GO:0006821 9.88 SLC4A1 CLCNKB CLCN5
4 chloride ion homeostasis GO:0055064 9.81 SLC12A1 ATP6V1B1
5 phosphate ion transport GO:0006817 9.78 SLC34A3 SLC34A1
6 cellular phosphate ion homeostasis GO:0030643 9.73 SLC34A3 SLC34A1
7 ossification GO:0001503 9.7 SPP1 SLC34A1 CASR ATP6V1B1
8 sodium-dependent phosphate transport GO:0044341 9.67 SLC34A1 SLC34A3
9 chloride transmembrane transport GO:1902476 9.65 SLC4A1 SLC12A1 CLCNKB CLCN5 CASR
10 cellular response to vitamin D GO:0071305 9.63 CYP24A1 CASR
11 glyoxylate metabolic process GO:0046487 9.62 GRHPR AGXT
12 inorganic anion transport GO:0015698 9.43 SLC4A1 SLC34A3 SLC34A1
13 monoatomic ion transport GO:0006811 9.32 SLC4A1 SLC34A3 SLC34A1 SLC12A1 KCNJ1 CLDN16

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

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.33 SLC34A3 SLC34A1 SLC12A1
2 sodium:phosphate symporter activity GO:0005436 9.26 SLC34A3 SLC34A1
3 voltage-gated chloride channel activity GO:0005247 8.92 CLCNKB CLCN5
Sources

Sources for Nephrocalcinosis

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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