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MCID: NPH003
MIFTS: 48

Nephrocalcinosis

Categories: Rare diseases, Metabolic diseases, Nephrological diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Nephrocalcinosis

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MalaCards integrated aliases for Nephrocalcinosis:

Name: Nephrocalcinosis 12 76 53 29 55 44 15 73
Hypercalcemic Nephropathy 53 73

Classifications:

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


External Ids:

Disease Ontology 12 DOID:12679
MeSH 44 D009397
NCIt 50 C84918
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Summaries for Nephrocalcinosis

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NIH Rare Diseases : 53 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 renal tubular acidosis, distal and idiopathic infantile hypercalcemia. An important gene associated with Nephrocalcinosis is CLDN16 (Claudin 16), 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 Hydrochlorothiazide have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 Nephrocalcinosis, once known as Albright\'s calcinosis after Fuller Albright, or Anderson-Carr kidneys,... 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 168)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal 32.5 ATP6V1B1 SLC4A1
2 idiopathic infantile hypercalcemia 32.1 CYP24A1 SLC34A1
3 hypophosphatemic rickets, x-linked recessive 32.1 CLCN5 CYP24A1 SLC34A1
4 dent disease 1 32.0 CLCN5 CLCNKB KCNJ1
5 renal tubular acidosis, distal, autosomal recessive 31.7 ATP6V1B1 SLC4A1
6 fanconi syndrome 30.0 CLCN5 SLC34A1
7 primary hyperoxaluria 29.3 AGXT GRHPR
8 nephrolithiasis 29.2 AGXT CLCN5 CLDN16 GRHPR SLC34A1
9 nephrolithiasis, calcium oxalate 29.1 AGXT CLCN5 GRHPR SLC34A1
10 hypokalemia 28.6 CLCNKB KCNJ1 SLC12A1
11 bartter disease 28.5 CLCN5 CLCNKB KCNJ1 SLC12A1
12 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 12.3
13 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 12.2
14 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 12.2
15 hypomagnesemia 3, renal 11.9
16 amelogenesis imperfecta, type ig 11.9
17 amelogenesis imperfecta hypoplastic type, ig 11.9
18 renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies 11.9
19 blue diaper syndrome 11.7
20 hypomagnesemia 5, renal, with ocular involvement 11.6
21 renal tubular acidosis, distal, autosomal dominant 11.2
22 short syndrome 11.2
23 hypogonadism-cataract syndrome 11.2
24 lubinsky syndrome 11.2
25 hypocalcemia, autosomal dominant 1 11.1
26 hyperoxaluria, primary, type ii 11.1
27 apparent mineralocorticoid excess 11.1
28 hyperoxaluria, primary, type i 11.1
29 hypercalcemia, infantile, 1 10.9
30 dent disease 2 10.9
31 bartter syndrome, type 5, antenatal, transient 10.9
32 nephrolithiasis, x-linked recessive, with renal failure 10.9
33 renal tubular acidosis, distal, with hemolytic anemia 10.9
34 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 10.9
35 hypercalcemia, infantile, 2 10.9
36 bartter syndrome, type 2, antenatal 10.7
37 renal tubular acidosis, distal, with progressive nerve deafness 10.7
38 bartter syndrome, type 1, antenatal 10.7
39 hypocalcemia, autosomal dominant 2 10.7
40 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 10.7
41 peroxisome biogenesis disorder 10b 10.7
42 slc4a1-associated distal renal tubular acidosis 10.7
43 hypomagnesemia 1, intestinal 10.6 CLDN16 CLDN19
44 primary hypomagnesemia 10.5 CLDN16 CLDN19
45 renal tubular acidosis 10.4
46 hypophosphatemic rickets with hypercalciuria, hereditary 10.3 CLDN16 SLC34A1
47 rickets 10.1
48 amelogenesis imperfecta 10.1
49 hyperparathyroidism 10.1
50 aminoaciduria 10.1 CLCN5 SLC34A1

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:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.5 SLC4A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.5 SLC4A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.5 SLC34A1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.5 SLC34A1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.5 SLC12A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.5 SLC12A1 SLC34A1 SLC4A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.5 SLC12A1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.5 SLC4A1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 SLC34A1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.5 SLC12A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.5 SLC12A1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.5 SLC12A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.5 SLC4A1

MGI Mouse Phenotypes related to Nephrocalcinosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 AGXT ATP6V1B1 CLCN5 CLCNKB CLDN16 CLDN19
2 renal/urinary system MP:0005367 9.4 CLCNKB CLDN16 CYP24A1 FAM20A GRHPR KCNJ1
Sources

Drugs & Therapeutics for Nephrocalcinosis

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

(show top 50) (show all 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Potassium Citrate Approved, Investigational, Vet_approved Phase 3
2
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
3
Denosumab Approved Phase 3 615258-40-7
4
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 1406-16-2
6 Anticoagulants Phase 3
7 Calcium, Dietary Phase 3,Phase 2,Phase 1,Not Applicable
8 Chelating Agents Phase 3
9 diuretics Phase 3,Phase 2
10 Expectorants Phase 3
11 Natriuretic Agents Phase 3,Phase 2
12 Pharmaceutical Solutions Phase 3
13 Respiratory System Agents Phase 3
14 Adrenocorticotropic Hormone Phase 2, Phase 3
15 beta-endorphin Phase 2, Phase 3
16 Bone Density Conservation Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
17 Endorphins Phase 2, Phase 3
18 Hormone Antagonists Phase 2, Phase 3,Phase 3
19 Hormones Phase 2, Phase 3,Phase 3
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 3
21 Melanocyte-Stimulating Hormones Phase 2, Phase 3
22 Neurotransmitter Agents Phase 2, Phase 3
23 Vitamins Phase 3,Phase 2,Phase 1,Not Applicable
24 Antihypertensive Agents Phase 2, Phase 3
25 Sodium Chloride Symporter Inhibitors Phase 2, Phase 3
26 Calcimimetic Agents Phase 3
27 Cinacalcet Hydrochloride Phase 3
28 Citrate Nutraceutical Phase 3
29
Rifampicin Approved Phase 2,Phase 1 13292-46-1 5458213 5381226
30
Amiloride Approved Phase 2 2016-88-8, 2609-46-3 16231
31
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
32
Alfacalcidol Approved, Nutraceutical Phase 2 41294-56-8 5282181
33 Micronutrients Phase 2,Phase 1,Not Applicable
34 Trace Elements Phase 2,Phase 1,Not Applicable
35 potassium phosphate Phase 1, Phase 2
36 Anti-Bacterial Agents Phase 2,Phase 1
37 Antibiotics, Antitubercular Phase 2,Phase 1
38 Anti-Infective Agents Phase 2,Phase 1
39 Antitubercular Agents Phase 2,Phase 1
40 Cytochrome P-450 CYP3A Inducers Phase 2,Phase 1
41 Nucleic Acid Synthesis Inhibitors Phase 2,Phase 1
42 Diuretics, Potassium Sparing Phase 2
43 Hydroxycholecalciferols Phase 2,Not Applicable
44 Sodium Channel Blockers Phase 2
45 Phosphorus Supplement Nutraceutical Phase 1, Phase 2
46
Ergocalciferol Approved, Nutraceutical Phase 1,Not Applicable 50-14-6 5280793
47
Vitamin D3 Approved, Nutraceutical Phase 1 67-97-0 6221 5280795
48 Ergocalciferols Phase 1,Not Applicable
49 Calciferol Nutraceutical Phase 1,Not Applicable
50 Vitamin D2 Nutraceutical Phase 1,Not Applicable

Interventional clinical trials:

(show all 23)
# 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 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
3 Alkaline Citrate Treatment to Lower the Risk of Nephrocalcinosis in Preterm Infants Completed NCT00249951 Phase 3 Alkaline citrate
4 Effects of PTH Replacement on Bone in Hypoparathyroidism Completed NCT00395538 Phase 3 PTH 1-34
5 Treatment of Primary Hyperparathyroidism With Denosumab and Cinacalcet. Enrolling by invitation NCT03027557 Phase 3 Cinacalcet 30 mg Tablet;Denosumab Inj 60 mg/ml
6 Dose-Dependent Effect of Thiazide in Dent's Disease Hypercalciuria Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
7 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
8 Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria Recruiting NCT03301038 Phase 2 Rifampin
9 Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Severe Primary Hypoparathyroidism Recruiting NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
10 Feasibility Study of 2000 IU Per Day of Vitamin D for the Primary Prevention of Type 1 Diabetes Completed NCT00141986 Phase 1
11 A Trial on Different Dosages of Vitamin D in Preterm Infants With Late-onset Sepsis Completed NCT02273843 Phase 1 High-dose vitamin D 3;Conventional-Dose Vitamin D 3
12 The Antibiotic Rifampin to Reduce High Levels of Blood and Urine Calcium in IIH Recruiting NCT03384121 Phase 1 Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension
13 Renal Tubular Acidosis in Incident Renal Transplant Recipients Unknown status NCT01283880
14 Preterm Infants and Nephrocalcinosis Completed NCT02438267
15 Effect of Caffeine on Preterm Infants' Bone Mineral Content Completed NCT03084432
16 Search for New Genetic Causes of Hypercalcemia by Massively Parallel Sequencing of a Genes Panel Recruiting NCT02908542
17 Monogenic Kidney Stone - Genetic Testing Recruiting NCT03305835
18 Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806 Not Applicable
19 Survey on Epidemiology of Hypoparathyroidism in France Recruiting NCT02838927
20 Monitored vs Standard Supplementation of Vitamin D in Preterm Infants Recruiting NCT03087149 Not Applicable
21 A Registry for Patients With Chronic Hypoparathyroidism Recruiting NCT01922440 Combination product (Natpara) and drug or supplements [Disease and drug registry]
22 Effect of Magnesium Sulfate Infusion Rate on Magnesium Retention in Critically Ill Patients Terminated NCT01426165 Not Applicable Magnesium Sulfate
23 International Registry for Primary Hyperoxaluria 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 29
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Anatomical Context for Nephrocalcinosis

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MalaCards organs/tissues related to Nephrocalcinosis:

41
Kidney, Bone, Testes, Thyroid, Liver, Heart, T Cells
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Publications for Nephrocalcinosis

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Articles related to Nephrocalcinosis:

(show top 50) (show all 595)
# Title Authors Year
1
A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis. ( 29756720 )
2018
2
Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation. ( 29439260 )
2018
3
Anti-Transforming Growth Factor I^ IgG Elicits a Dual Effect on Calcium Oxalate Crystallization and Progressive Nephrocalcinosis-Related Chronic Kidney Disease. ( 29651290 )
2018
4
Caspase-independent programmed cell death triggers Ca<sub>2</sub>PO<sub>4</sub>deposition in an<i>in vitro</i>model of nephrocalcinosis. ( 29208768 )
2018
5
Oral administration of oxalate-enriched spinach extract as an improved methodology for the induction of dietary hyperoxaluric nephrocalcinosis in experimental rats. ( 28980857 )
2018
6
Uncommon cribfellows: an infant with hypercalcemia, nephrocalcinosis, and acidosis: Questions. ( 29460157 )
2018
7
Nephrocalcinosis: A Diagnostic Conundrum. ( 29579419 )
2018
8
Uncommon cribfellows: an infant with hypercalcemia, nephrocalcinosis, and acidosis: Answers. ( 29460158 )
2018
9
Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary? ( 29699796 )
2018
10
Nephrolithiasis and Nephrocalcinosis in Childhood-Risk Factor-Related Current and Future Treatment Options. ( 29707529 )
2018
11
Nephrolithiasis and Nephrocalcinosis FromA Topiramate Therapy in Children WithA Epilepsy. ( 29854977 )
2018
12
Nephrocalcinosis in a young male with anorexia nervosa. ( 28669007 )
2017
13
Successful treatment of early allograft dysfunction with cinacalcet in a patient with nephrocalcinosis caused by severe hyperparathyroidism: a case report. ( 28390426 )
2017
14
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis andA nephrocalcinosis. ( 28893421 )
2017
15
The macrophage phenotype and inflammasome component NLRP3 contributes to nephrocalcinosis-related chronic kidney disease independent from IL-1-mediated tissue injury. ( 29241624 )
2017
16
Nephrocalcinosis among children at king hussein medical center: Causes and outcome. ( 28937064 )
2017
17
Renal Cysts and Nephrocalcinosis in 11 Beta-hydroxylase Deficiency. ( 28904442 )
2017
18
Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3a8c. ( 28152538 )
2017
19
Infant nephrolithiasis and nephrocalcinosis: Natural history and predictors of surgical intervention. ( 28729176 )
2017
20
AJKD Atlas of Renal Pathology: Nephrocalcinosis and Acute Phosphate Nephropathy. ( 28236887 )
2017
21
Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations. ( 28405841 )
2017
22
A case control analysis investigating risk factors and outcomes for nephrocalcinosis and renal calculi in neonates. ( 28821388 )
2017
23
A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients. ( 28095294 )
2017
24
Correction: Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. ( 28947560 )
2017
25
Medullary Nephrocalcinosis in a Furosemide Abuser. ( 28090060 )
2017
26
Medullary nephrocalcinosis in idiopathic hypercalciuria. ( 29152298 )
2017
27
Nephrocalcinosis in a patient with rheumatoid arthritis and secondary SjAPgren's syndrome. ( 28359765 )
2017
28
Infants With Congenital Adrenal Hyperplasia Are at Risk for Hypercalcemia, Hypercalciuria, and Nephrocalcinosis. ( 29264571 )
2017
29
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. ( 26787776 )
2016
30
Bilateral nephrocalcinosis in primary hyperoxaluria type 1. ( 27795638 )
2016
31
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature. ( 27079129 )
2016
32
Osteopontin protects against high phosphate-induced nephrocalcinosis andA vascularA calcification. ( 27083280 )
2016
33
A rare case of nephrocalcinosis in the distal tubules caused by hereditary renal hypouricemia three months after kidney transplantation. ( 26971588 )
2016
34
Hashimoto Thyroiditis and Nephrocalcinosis in a Child with Down Syndrome. ( 27147809 )
2016
35
Failure to thrive and nephrocalcinosis due to distal renal tubular acidosis: A rare presentation of pediatric lupus nephritis. ( 27900972 )
2016
36
Malabsorption syndrome as a rare cause of nephrocalcinosis. ( 28228792 )
2016
37
Rare case of nephrocalcinosis in a 14-year-old girl: Questions. ( 27384690 )
2016
38
Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency. ( 27378183 )
2016
39
Re: Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. ( 27479436 )
2016
40
Bilateral Nephrocalcinosis in Primary Distal Renal Tubular Acidosis. ( 27090423 )
2016
41
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. ( 27530400 )
2016
42
Recent advances in managing and understanding nephrolithiasis/nephrocalcinosis. ( 27134735 )
2016
43
Pseudoxanthoma elasticum and nephrocalcinosis. ( 27181788 )
2016
44
Rare case of nephrocalcinosis in a 14-year-old girl: Answers. ( 27384692 )
2016
45
Lakes of Extramedullary Hematopoiesis in a Renal Hemangioma With Extensive Nephrocalcinosis. ( 27571793 )
2016
46
A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family. ( 27067446 )
2016
47
Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair. ( 27007868 )
2016
48
Hypercalcemia and nephrocalcinosis complicating subcutaneous fat necrosis in a newborn after therapeutic hypothermia. ( 27277205 )
2016
49
Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis. ( 27605580 )
2016
50
Nephrocalcinosis in Tunisian children. ( 27704510 )
2016
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Variations for Nephrocalcinosis

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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 glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 66
Show member pathways
 12.56 ATP6V1B1 CLCN5 CLCNKB SLC12A1 SLC34A1 SLC4A1
2
Insulin receptor recycling 66
Show member pathways
 11.99 ATP6V1B1 CLCNKB SLC4A1
3
Glycine, serine and threonine metabolism 37
Show member pathways
 11.04 AGXT GRHPR
4
Glyoxylate metabolism and glycine degradation 66
Show member pathways
 10.87 AGXT GRHPR
5
Glyoxylate and dicarboxylate metabolism 37
10.6 AGXT GRHPR
6
Diuretics Pathway, Pharmacodynamics 61
10.26 CLCNKB KCNJ1 SLC12A1
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 plasma membrane GO:0005886 9.61 CLCN5 CLCNKB CLDN16 CLDN19 CYP24A1 KCNJ1
2 peroxisomal matrix GO:0005782 9.16 AGXT GRHPR
3 basolateral plasma membrane GO:0016323 8.8 ATP6V1B1 CLDN19 SLC4A1

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

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.65 ATP6V1B1 CLCN5 CLCNKB KCNJ1 SLC12A1
2 ion transport GO:0006811 9.56 ATP6V1B1 CLCN5 CLCNKB CLDN16 KCNJ1 SLC12A1
3 chloride transport GO:0006821 9.54 CLCN5 CLCNKB SLC4A1
4 potassium ion import GO:0010107 9.48 KCNJ1 SLC12A1
5 calcium ion homeostasis GO:0055074 9.46 ATP6V1B1 FAM20A
6 chloride transmembrane transport GO:1902476 9.46 CLCN5 CLCNKB SLC12A1 SLC4A1
7 cellular nitrogen compound metabolic process GO:0034641 9.43 AGXT GRHPR
8 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.4 CLDN16 CLDN19
9 glyoxylate metabolic process GO:0046487 9.32 AGXT GRHPR
10 excretion GO:0007588 9.1 ATP6V1B1 CLCN5 CLCNKB CLDN16 GRHPR KCNJ1

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated chloride channel activity GO:0005247 8.62 CLCN5 CLCNKB
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Sources for Nephrocalcinosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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