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MCID: NPH003
MIFTS: 50

Nephrocalcinosis

Categories: Nephrological diseases, Rare diseases
Genes Variations 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 77 54 30 56 6 45 15 74
Hypercalcemic Nephropathy 54 74

Classifications:

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


External Ids:

Disease Ontology 12 DOID:12679
MeSH 45 D009397
NCIt 51 C84918
SNOMED-CT 69 48638002
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Summaries for Nephrocalcinosis

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NIH Rare Diseases : 54 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 dent disease 1 and renal tubular acidosis, distal. 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 Ion channel transport. The drugs Potassium Citrate and Sodium Citrate have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and thyroid, and related phenotypes are no effect and homeostasis/metabolism

Wikipedia : 77 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 190)
# Related Disease Score Top Affiliating Genes
1 dent disease 1 33.6 CLCN5 CLCNKB CLDN16 OCRL
2 renal tubular acidosis, distal 32.8 ATP6V0A4 ATP6V1B1 SLC4A1
3 hypophosphatemic rickets, x-linked recessive 32.6 CLCN5 CYP24A1 SLC34A1 SLC34A3
4 idiopathic infantile hypercalcemia 32.5 CYP24A1 SLC34A1
5 bartter syndrome, type 1, antenatal 32.5 ATP6V0A4 SLC12A1
6 renal tubular acidosis, distal, autosomal dominant 32.5 ATP6V0A4 ATP6V1B1 CA2 SLC4A1
7 hypercalcemia, infantile, 1 32.1 CASR CYP24A1
8 renal tubular acidosis, distal, autosomal recessive 32.0 ATP6V0A4 ATP6V1B1 SLC4A1
9 bartter syndrome, type 2, antenatal 31.9 CASR KCNJ1
10 rickets 31.1 CLCN5 SLC34A1 SLC34A3
11 renal tubular acidosis 31.0 ATP6V0A4 ATP6V1B1 CA2 OCRL SLC4A1
12 medullary sponge kidney 30.7 ATP6V0A4 ATP6V1B1
13 diabetes insipidus, nephrogenic, autosomal 30.6 ATP6V0A4 CASR SLC12A1
14 hypophosphatemia 30.6 CLCN5 SLC34A1 SLC34A3
15 primary hypomagnesemia 30.6 ATP6V0A4 CLDN16 CLDN19
16 chronic kidney failure 30.5 AGXT CASR CLDN16 SPP1
17 hypophosphatemic rickets, x-linked dominant 30.5 SLC34A1 SLC34A3
18 idiopathic hypercalciuria 30.4 CASR CLCN5 SLC34A3
19 hypokalemia 30.4 CLCNKB KCNJ1 SLC12A1
20 bartter disease 30.4 CASR CLCN5 CLCNKB KCNJ1 SLC12A1
21 fanconi syndrome 30.2 CLCN5 OCRL SLC34A1
22 hereditary hypophosphatemic rickets 30.2 SLC34A1 SLC34A3
23 nephrolithiasis, calcium oxalate 30.1 AGXT CASR CLCN5 GRHPR SLC34A1 SPP1
24 osteoporosis 29.8 CA2 CASR SLC34A1 SPP1
25 nephrolithiasis 29.5 AGXT ATP6V0A4 ATP6V1B1 CASR CLCN5 CLCNKB
26 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 12.6
27 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 12.4
28 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 12.4
29 hypomagnesemia 3, renal 12.1
30 renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies 12.1
31 amelogenesis imperfecta hypoplastic type, ig 12.1
32 amelogenesis imperfecta, type ig 12.1
33 hypomagnesemia 5, renal, with or without ocular involvement 12.0
34 blue diaper syndrome 11.9
35 short syndrome 11.4
36 hypogonadism-cataract syndrome 11.4
37 lubinsky syndrome 11.4
38 hypocalcemia, autosomal dominant 1 11.3
39 hyperoxaluria, primary, type ii 11.3
40 apparent mineralocorticoid excess 11.3
41 hyperoxaluria, primary, type i 11.3
42 dent disease 2 11.1
43 bartter syndrome, type 5, antenatal, transient 11.1
44 nephrolithiasis, x-linked recessive, with renal failure 11.1
45 renal tubular acidosis, distal, with hemolytic anemia 11.1
46 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 11.1
47 hypercalcemia, infantile, 2 11.1
48 hypocalciuric hypercalcemia, familial, type i 10.9
49 renal tubular acidosis, distal, with progressive nerve deafness 10.9
50 hyperoxaluria, primary, type iii 10.9

Graphical network of the top 20 diseases related to Nephrocalcinosis:



Diseases related to Nephrocalcinosis
Sources

Symptoms & Phenotypes for Nephrocalcinosis

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 AGXT AMMECR1 ATP6V0A4 ATP6V1B1 CA2 CASR

MGI Mouse Phenotypes related to Nephrocalcinosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.11 AGXT ATP6V0A4 ATP6V1B1 CA2 CASR CLCN5
2 growth/size/body region MP:0005378 10.07 ATP6V0A4 CA2 CASR CLCN5 CYP24A1 FAM20A
3 renal/urinary system MP:0005367 9.91 AGXT ATP6V0A4 ATP6V1B1 CA2 CASR CLCN5
4 skeleton MP:0005390 9.36 ATP6V0A4 ATP6V1B1 CA2 CASR CLCN5 CYP24A1
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 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Potassium Citrate Approved, Investigational, Vet_approved Phase 3
2
Sodium Citrate Approved, Investigational Phase 3 68-04-2
3
Parathyroid hormone Approved, Investigational Phase 3,Phase 2 9002-64-6
4
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
5
Cinacalcet Approved Phase 3 226256-56-0 156419
6
Denosumab Approved Phase 3 615258-40-7
7
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
8
Calcium Approved, Nutraceutical Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 7440-70-2 271
9
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 1406-16-2
10
Vitamin D3 Approved, Nutraceutical Phase 3,Phase 1 67-97-0 5280795 6221
11
Ergocalciferol Approved, Nutraceutical Phase 3,Phase 1,Not Applicable 50-14-6 5280793
12 Pharmaceutical Solutions Phase 3
13 Respiratory System Agents Phase 3
14 Expectorants Phase 3
15 Natriuretic Agents Phase 3,Phase 2
16 Chelating Agents Phase 3
17 diuretics Phase 3,Phase 2
18 Anticoagulants Phase 3
19 Calcium, Dietary Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
20 Citrate Phase 3
21 Adrenocorticotropic Hormone Phase 2, Phase 3
22 Hormones Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable
23 beta-endorphin Phase 2, Phase 3
24 Bone Density Conservation Agents Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable
25 Endorphins Phase 2, Phase 3
26 Hormone Antagonists Phase 2, Phase 3,Phase 3
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 3
28 Melanocyte-Stimulating Hormones Phase 2, Phase 3
29 Neurotransmitter Agents Phase 2, Phase 3
30 Calciferol Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
31 Vitamins Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
32 Ergocalciferols Phase 3,Phase 1,Not Applicable
33 Micronutrients Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
34 Nutrients Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
35 Trace Elements Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
36 Vitamin D2 Phase 3,Phase 1,Not Applicable
37 Antihypertensive Agents Phase 2, Phase 3
38 Sodium Chloride Symporter Inhibitors Phase 2, Phase 3
39 Calcimimetic Agents Phase 3
40
Rifampicin Approved Phase 2,Phase 1 13292-46-1 5381226 5458213
41
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
42
Amiloride Approved Phase 2 2609-46-3, 2016-88-8 16231
43
Alfacalcidol Approved, Nutraceutical Phase 2 41294-56-8 5282181
44 Phosphorus Supplement Phase 1, Phase 2
45 potassium phosphate Phase 1, Phase 2
46 Anti-Infective Agents Phase 2,Phase 1
47 Antibiotics, Antitubercular Phase 2,Phase 1
48 Anti-Bacterial Agents Phase 2,Phase 1
49 Cytochrome P-450 CYP3A Inducers Phase 2,Phase 1
50 Antitubercular Agents Phase 2,Phase 1

Interventional clinical trials:

(show all 29)
# 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 Treatment of Primary Hyperparathyroidism With Denosumab and Cinacalcet. Active, not recruiting NCT03027557 Phase 3 Cinacalcet 30 mg Tablet;Denosumab Inj 60 mg/ml
5 Rapid Normalization of Vitamin D Deficiency in PICU Not yet recruiting NCT03742505 Phase 3 Cholecalciferol
6 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
7 Dose-Dependent Effect of Thiazide in Dent's Disease Hypercalciuria Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
8 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
9 Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria Recruiting NCT03301038 Phase 2 Rifampin
10 Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Severe Primary Hypoparathyroidism Recruiting NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
11 Feasibility Study of 2000 IU Per Day of Vitamin D for the Primary Prevention of Type 1 Diabetes Completed NCT00141986 Phase 1
12 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
13 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
14 Renal Tubular Acidosis in Incident Renal Transplant Recipients Unknown status NCT01283880
15 Search for New Genetic Causes of Hypercalcemia by Massively Parallel Sequencing of a Genes Panel Unknown status NCT02908542
16 Preterm Infants and Nephrocalcinosis Completed NCT02438267
17 Effect of Caffeine on Preterm Infants' Bone Mineral Content Completed NCT03084432
18 Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia in Collaboration With Asian Partners Recruiting NCT03745521
19 Monogenic Kidney Stone - Genetic Testing Recruiting NCT03305835
20 Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806 Not Applicable
21 Survey on Epidemiology of Hypoparathyroidism in France Recruiting NCT02838927
22 Calcitriol Monotherapy for X-Linked Hypophosphatemia Recruiting NCT03748966 Early Phase 1 Calcitriol
23 X-linked Hypophosphatemia Disease Monitoring Program Recruiting NCT03651505
24 Monitored vs Standard Supplementation of Vitamin D in Preterm Infants Recruiting NCT03087149 Not Applicable
25 A Registry for Patients With Chronic Hypoparathyroidism Recruiting NCT01922440 Combination product (Natpara) and drug or supplements [Disease and drug registry]
26 Intestinal Microbiota and Vitamin K Levels in PXE Patients (IMPROVE Study) Recruiting NCT03813550 Not Applicable
27 The Impact of Phosphate Metabolism on Healthy Aging Not yet recruiting NCT03771105 Early Phase 1 phosphate
28 Effect of Magnesium Sulfate Infusion Rate on Magnesium Retention in Critically Ill Patients Terminated NCT01426165 Not Applicable Magnesium Sulfate
29 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 30
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Anatomical Context for Nephrocalcinosis

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MalaCards organs/tissues related to Nephrocalcinosis:

42
Kidney, Bone, Thyroid, Testes, Cortex, B Cells, Small Intestine
Sources

Publications for Nephrocalcinosis

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Articles related to Nephrocalcinosis:

(show top 50) (show all 721)
# Title Authors Year
1
The gut flora modulates intestinal barrier integrity but not progression of chronic kidney disease in hyperoxaluria-related nephrocalcinosis. ( 31081025 )
2019
2
Nephrocalcinosis in adolescent girl with medullary sponge kidney and mild hemihypertrophy: A case report. ( 30762792 )
2019
3
Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 30576809 )
2019
4
Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations. ( 30621608 )
2019
5
Familial Hypomagnesemia, Hypercalciuria and Nephrocalcinosis with Novel Mutation. ( 30814796 )
2019
6
Mice With a Brd4 Mutation Represent a New Model of Nephrocalcinosis. ( 30830987 )
2019
7
Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors. ( 31065622 )
2019
8
Nephrocalcinosis in a patient with extrapulmonary tuberculosis - A rare entity. ( 30911525 )
2019
9
Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation. ( 29439260 )
2018
10
Re: Nephrolithiasis and Nephrocalcinosis from Topiramate Therapy in Children with Epilepsy. ( 30360335 )
2018
11
Nephrolithiasis and Nephrocalcinosis From Topiramate Therapy in Children With Epilepsy. ( 29854977 )
2018
12
Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report. ( 30005619 )
2018
13
Prevalence of nephrocalcinosis in pseudohypoparathyroidism: Is screening necessary? ( 30049397 )
2018
14
A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. ( 30102483 )
2018
15
Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome. ( 30325132 )
2018
16
Association between furosemide in premature infants and sensorineural hearing loss and nephrocalcinosis: a systematic review. ( 30473868 )
2018
17
Bilateral Medullary Nephrocalcinosis Secondary to Vitamin D Toxicity: A 14-year Follow-up Report. ( 30766831 )
2018
18
A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis. ( 29756720 )
2018
19
Nephrolithiasis and Nephrocalcinosis in Childhood-Risk Factor-Related Current and Future Treatment Options. ( 29707529 )
2018
20
Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary? ( 29699796 )
2018
21
Nephrocalcinosis: A Diagnostic Conundrum. ( 29579419 )
2018
22
Uncommon cribfellows: an infant with hypercalcemia, nephrocalcinosis, and acidosis: Answers. ( 29460158 )
2018
23
Uncommon cribfellows: an infant with hypercalcemia, nephrocalcinosis, and acidosis: Questions. ( 29460157 )
2018
24
The macrophage phenotype and inflammasome component NLRP3 contributes to nephrocalcinosis-related chronic kidney disease independent from IL-1-mediated tissue injury. ( 29241624 )
2018
25
Caspase-independent programmed cell death triggers Ca2PO4 deposition in an in vitro model of nephrocalcinosis. ( 29208768 )
2018
26
Oral administration of oxalate-enriched spinach extract as an improved methodology for the induction of dietary hyperoxaluric nephrocalcinosis in experimental rats. ( 28980857 )
2018
27
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. ( 28893421 )
2018
28
Anti-Transforming Growth Factor β IgG Elicits a Dual Effect on Calcium Oxalate Crystallization and Progressive Nephrocalcinosis-Related Chronic Kidney Disease. ( 29651290 )
2018
29
The Long Pentraxin PTX3 Is an Endogenous Inhibitor of Hyperoxaluria-Related Nephrocalcinosis and Chronic Kidney Disease. ( 30319631 )
2018
30
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. ( 27530400 )
2017
31
Erratum: Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. ( 28947560 )
2017
32
A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients. ( 28095294 )
2017
33
Lakes of Extramedullary Hematopoiesis in a Renal Hemangioma With Extensive Nephrocalcinosis. ( 27571793 )
2017
34
Successful treatment of early allograft dysfunction with cinacalcet in a patient with nephrocalcinosis caused by severe hyperparathyroidism: a case report. ( 28390426 )
2017
35
Medullary nephrocalcinosis in idiopathic hypercalciuria. ( 29152298 )
2017
36
Infants With Congenital Adrenal Hyperplasia Are at Risk for Hypercalcemia, Hypercalciuria, and Nephrocalcinosis. ( 29264571 )
2017
37
Nephrocalcinosis among children at king hussein medical center: Causes and outcome. ( 28937064 )
2017
38
Renal Cysts and Nephrocalcinosis in 11 Beta-hydroxylase Deficiency. ( 28904442 )
2017
39
A case control analysis investigating risk factors and outcomes for nephrocalcinosis and renal calculi in neonates. ( 28821388 )
2017
40
Infant nephrolithiasis and nephrocalcinosis: Natural history and predictors of surgical intervention. ( 28729176 )
2017
41
Nephrocalcinosis in a patient with rheumatoid arthritis and secondary Sjögren's syndrome. ( 28359765 )
2017
42
AJKD Atlas of Renal Pathology: Nephrocalcinosis and Acute Phosphate Nephropathy. ( 28236887 )
2017
43
Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3
. ( 28152538 )
2017
44
Medullary Nephrocalcinosis in a Furosemide Abuser. ( 28090060 )
2017
45
Rare case of nephrocalcinosis in a 14-year-old girl: Answers. ( 27384692 )
2017
46
Rare case of nephrocalcinosis in a 14-year-old girl: Questions. ( 27384690 )
2017
47
Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations. ( 28405841 )
2017
48
Nephrocalcinosis in a young male with anorexia nervosa. ( 28669007 )
2017
49
Hashimoto Thyroiditis and Nephrocalcinosis in a Child with Down Syndrome. ( 27147809 )
2016
50
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature. ( 27079129 )
2016
Sources

Variations for Nephrocalcinosis

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ClinVar genetic disease variations for Nephrocalcinosis:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRHPR NM_012203.1(GRHPR): c.103delG (p.Asp35Thrfs) deletion Pathogenic rs80356708 GRCh37 Chromosome 9, 37424861: 37424861
2 GRHPR NM_012203.1(GRHPR): c.103delG (p.Asp35Thrfs) deletion Pathogenic rs80356708 GRCh38 Chromosome 9, 37424864: 37424864
3 AGXT NM_000030.2(AGXT): c.121G> A (p.Gly41Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908523 GRCh37 Chromosome 2, 241808403: 241808403
4 AGXT NM_000030.2(AGXT): c.121G> A (p.Gly41Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908523 GRCh38 Chromosome 2, 240868986: 240868986
5 AGXT NM_000030.2(AGXT): c.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs121908525 GRCh37 Chromosome 2, 241814576: 241814576
6 AGXT NM_000030.2(AGXT): c.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs121908525 GRCh38 Chromosome 2, 240875159: 240875159
7 CLDN16 NM_006580.3(CLDN16): c.695T> G (p.Phe232Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893726 GRCh37 Chromosome 3, 190126205: 190126205
8 CLDN16 NM_006580.3(CLDN16): c.695T> G (p.Phe232Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893726 GRCh38 Chromosome 3, 190408416: 190408416
9 ATP6V1B1 NM_001692.4(ATP6V1B1): c.242T> C (p.Leu81Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121964880 GRCh37 Chromosome 2, 71185243: 71185243
10 ATP6V1B1 NM_001692.4(ATP6V1B1): c.242T> C (p.Leu81Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121964880 GRCh38 Chromosome 2, 70958113: 70958113
11 AGXT NM_000030.2(AGXT): c.481G> A (p.Gly161Ser) single nucleotide variant Pathogenic/Likely pathogenic rs180177227 GRCh37 Chromosome 2, 241810823: 241810823
12 AGXT NM_000030.2(AGXT): c.481G> A (p.Gly161Ser) single nucleotide variant Pathogenic/Likely pathogenic rs180177227 GRCh38 Chromosome 2, 240871406: 240871406
13 SLC34A1 NM_003052.4(SLC34A1): c.644+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs201304511 GRCh37 Chromosome 5, 176814875: 176814875
14 SLC34A1 NM_003052.4(SLC34A1): c.644+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs201304511 GRCh38 Chromosome 5, 177387874: 177387874
15 SLC12A1 NM_000338.2(SLC12A1): c.1163delT (p.Phe388Serfs) deletion Pathogenic/Likely pathogenic rs779588655 GRCh38 Chromosome 15, 48234952: 48234952
16 SLC12A1 NM_000338.2(SLC12A1): c.1163delT (p.Phe388Serfs) deletion Pathogenic/Likely pathogenic rs779588655 GRCh37 Chromosome 15, 48527149: 48527149
17 SLC34A1 NM_003052.4(SLC34A1): c.398C> T (p.Ala133Val) single nucleotide variant Likely benign rs148976897 GRCh38 Chromosome 5, 177386432: 177386432
18 SLC34A1 NM_003052.4(SLC34A1): c.398C> T (p.Ala133Val) single nucleotide variant Likely benign rs148976897 GRCh37 Chromosome 5, 176813433: 176813433
19 CLDN19 NM_148960.2(CLDN19): c.535G> A (p.Gly179Ser) single nucleotide variant Likely pathogenic rs145591298 GRCh38 Chromosome 1, 42735969: 42735969
20 CLDN19 NM_148960.2(CLDN19): c.535G> A (p.Gly179Ser) single nucleotide variant Likely pathogenic rs145591298 GRCh37 Chromosome 1, 43201640: 43201640
21 AGXT NM_000030.2(AGXT): c.1079G> C (p.Arg360Pro) single nucleotide variant Likely pathogenic rs180177161 GRCh38 Chromosome 2, 240878721: 240878721
22 AGXT NM_000030.2(AGXT): c.1079G> C (p.Arg360Pro) single nucleotide variant Likely pathogenic rs180177161 GRCh37 Chromosome 2, 241818138: 241818138
23 SLC3A1 NM_000341.3(SLC3A1): c.592delG (p.Ala198Glnfs) deletion Likely pathogenic rs778000327 GRCh38 Chromosome 2, 44280877: 44280877
24 SLC3A1 NM_000341.3(SLC3A1): c.592delG (p.Ala198Glnfs) deletion Likely pathogenic rs778000327 GRCh37 Chromosome 2, 44508016: 44508016
25 SLC34A1 NM_003052.4(SLC34A1): c.536T> C (p.Leu179Pro) single nucleotide variant Likely pathogenic rs142772770 GRCh38 Chromosome 5, 177387765: 177387765
26 SLC34A1 NM_003052.4(SLC34A1): c.536T> C (p.Leu179Pro) single nucleotide variant Likely pathogenic rs142772770 GRCh37 Chromosome 5, 176814766: 176814766
27 SLC34A1 NM_003052.4(SLC34A1): c.1204G> C (p.Gly402Arg) single nucleotide variant Likely pathogenic rs376131751 GRCh38 Chromosome 5, 177396762: 177396762
28 SLC34A1 NM_003052.4(SLC34A1): c.1204G> C (p.Gly402Arg) single nucleotide variant Likely pathogenic rs376131751 GRCh37 Chromosome 5, 176823763: 176823763
29 SLC34A1 NM_003052.4(SLC34A1): c.1724C> T (p.Thr575Ile) single nucleotide variant Likely pathogenic rs201331677 GRCh38 Chromosome 5, 177398090: 177398090
30 SLC34A1 NM_003052.4(SLC34A1): c.1724C> T (p.Thr575Ile) single nucleotide variant Likely pathogenic rs201331677 GRCh37 Chromosome 5, 176825091: 176825091
31 GRHPR NM_012203.1(GRHPR): c.404+5G> A single nucleotide variant Likely pathogenic rs757796926 GRCh37 Chromosome 9, 37426656: 37426656
32 GRHPR NM_012203.1(GRHPR): c.404+5G> A single nucleotide variant Likely pathogenic rs757796926 GRCh38 Chromosome 9, 37426659: 37426659
33 SLC12A1 NM_000338.2(SLC12A1): c.769G> A (p.Gly257Ser) single nucleotide variant Likely pathogenic rs896545456 GRCh38 Chromosome 15, 48229233: 48229233
34 SLC12A1 NM_000338.2(SLC12A1): c.769G> A (p.Gly257Ser) single nucleotide variant Likely pathogenic rs896545456 GRCh37 Chromosome 15, 48521430: 48521430
35 SLC12A1 NM_000338.2(SLC12A1): c.1424G> A (p.Cys475Tyr) single nucleotide variant Likely pathogenic rs1555466999 GRCh38 Chromosome 15, 48244876: 48244876
36 SLC12A1 NM_000338.2(SLC12A1): c.1424G> A (p.Cys475Tyr) single nucleotide variant Likely pathogenic rs1555466999 GRCh37 Chromosome 15, 48537073: 48537073
Sources

Expression for Nephrocalcinosis

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Search GEO for disease gene expression data for Nephrocalcinosis.
Sources

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 67
Show member pathways
 12.99 ATP6V0A4 ATP6V1B1 CLCN5 CLCNKB SLC12A1 SLC34A1
2
Ion channel transport 67
Show member pathways
 12.16 ATP6V0A4 ATP6V1B1 CLCN5 CLCNKB
3
Insulin receptor recycling 67
Show member pathways
 12 ATP6V0A4 ATP6V1B1 CA2 CLCNKB SLC4A1
4
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
11.15 CA2 CYP24A1 SPP1
5
Parathyroid hormone synthesis, secretion and action 38
10.95 CASR CYP24A1 SLC34A1 SLC34A3
6
Diuretics Pathway, Pharmacodynamics 62
10.59 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 apical part of cell GO:0045177 9.54 ATP6V0A4 CA2 CLCN5
2 brush border GO:0005903 9.5 ATP6V0A4 SLC34A1 SLC34A3
3 brush border membrane GO:0031526 9.43 ATP6V0A4 SLC34A1 SLC34A3
4 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.4 ATP6V0A4 ATP6V1B1
5 basolateral plasma membrane GO:0016323 9.35 ATP6V1B1 CA2 CASR CLDN19 SLC4A1
6 apical plasma membrane GO:0016324 9.1 ATP6V0A4 ATP6V1B1 CASR SLC12A1 SLC34A1 SLC34A3
7 extracellular exosome GO:0070062 10.03 ATP6V0A4 ATP6V1B1 CA2 FAM20A GRHPR SLC12A1
8 plasma membrane GO:0005886 10 ATP6V0A4 CA2 CASR CLCN5 CLCNKB CLDN16

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.74 SLC12A1 SLC34A1 SLC34A3
2 ion transmembrane transport GO:0034220 9.73 ATP6V0A4 ATP6V1B1 CLCN5 CLCNKB KCNJ1 SLC12A1
3 proton transmembrane transport GO:1902600 9.69 ATP6V0A4 ATP6V1B1 CLCN5
4 chloride transport GO:0006821 9.67 CLCN5 CLCNKB SLC4A1
5 ion transport GO:0006811 9.65 ATP6V0A4 ATP6V1B1 CLCN5 CLCNKB CLDN16 KCNJ1
6 ossification GO:0001503 9.62 ATP6V0A4 ATP6V1B1 CASR SLC34A1
7 calcium ion homeostasis GO:0055074 9.58 ATP6V1B1 FAM20A
8 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.56 CLDN16 CLDN19
9 regulation of pH GO:0006885 9.55 ATP6V0A4 ATP6V1B1
10 chloride transmembrane transport GO:1902476 9.55 CASR CLCN5 CLCNKB SLC12A1 SLC4A1
11 response to vitamin D GO:0033280 9.54 CYP24A1 SPP1
12 positive regulation of bone resorption GO:0045780 9.52 CA2 SPP1
13 phosphate ion transport GO:0006817 9.48 SLC34A1 SLC34A3
14 cellular nitrogen compound metabolic process GO:0034641 9.46 AGXT GRHPR
15 cellular phosphate ion homeostasis GO:0030643 9.43 SLC34A1 SLC34A3
16 glyoxylate metabolic process GO:0046487 9.4 AGXT GRHPR
17 sodium-dependent phosphate transport GO:0044341 9.37 SLC34A1 SLC34A3
18 excretion GO:0007588 9.17 ATP6V0A4 ATP6V1B1 CLCN5 CLCNKB CLDN16 GRHPR

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

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.43 SLC12A1 SLC34A1 SLC34A3
2 amino acid binding GO:0016597 9.32 AGXT CASR
3 voltage-gated chloride channel activity GO:0005247 9.16 CLCN5 CLCNKB
4 sodium:phosphate symporter activity GO:0005436 8.96 SLC34A1 SLC34A3
5 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 SLC34A1 SLC34A3
Sources

Sources for Nephrocalcinosis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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