MCID: NPH003
MIFTS: 51

Nephrocalcinosis

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Nephrocalcinosis

MalaCards integrated aliases for Nephrocalcinosis:

Name: Nephrocalcinosis 12 74 52 29 54 6 43 15 71
Hypercalcemic Nephropathy 52 71

Classifications:



External Ids:

Disease Ontology 12 DOID:12679
MeSH 43 D009397
NCIt 49 C84918
SNOMED-CT 67 48638002
UMLS 71 C0027709 C0152023

Summaries for Nephrocalcinosis

NIH Rare Diseases : 52 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 hypomagnesemia 5, renal, with or without ocular involvement. 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 liver, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 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 350)
# Related Disease Score Top Affiliating Genes
1 dent disease 1 34.2 SLC34A1 SLC12A1 OCRL KCNJ1 CLCNKB CLCN5
2 hypomagnesemia 5, renal, with or without ocular involvement 34.2 SLC12A1 KCNJ1 CLDN19 CLDN16
3 idiopathic infantile hypercalcemia 33.3 SLC34A1 CYP24A1
4 distal renal tubular acidosis 33.2 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
5 hypophosphatemic rickets, x-linked recessive 33.2 SLC34A1 PHEX CYP24A1 CLCN5
6 bartter syndrome, type 2, antenatal 33.0 SLC12A1 KCNJ1 CASR
7 hypocalcemia, autosomal dominant 1 33.0 KCNJ1 CLDN16 CLCNKB CASR
8 bartter syndrome, type 1, antenatal 32.9 SLC12A1 KCNJ1 CLDN19 CLDN16 CASR
9 bartter disease 32.8 SLC12A1 KCNJ1 CLDN19 CLDN16 CLCNKB CLCN5
10 hypercalcemia, infantile, 1 32.8 CYP24A1 CASR
11 renal tubular acidosis, distal, autosomal recessive 32.5 SLC4A1 ATP6V1B1 ATP6V0A4
12 bartter syndrome, type 3 32.4 SLC12A1 KCNJ1 CLDN19 CLDN16 CLCNKB
13 renal tubular acidosis 31.9 SLC4A1 OCRL CA2 ATP6V1B1 ATP6V0A4
14 urolithiasis 31.6 SPP1 CASR AGXT
15 primary hyperoxaluria 31.4 SPP1 GRHPR AGXT
16 medullary sponge kidney 31.4 ATP6V1B1 ATP6V0A4
17 rickets 31.3 SPP1 SLC34A1 PHEX OCRL CYP24A1 CLCN5
18 hypokalemia 31.3 SLC12A1 KCNJ1 CLCNKB CASR
19 metabolic acidosis 31.3 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
20 idiopathic hypercalciuria 31.2 CLCN5 CASR
21 hypophosphatemia 31.2 SPP1 SLC34A1 PHEX OCRL CLCN5
22 hypercalciuria, absorptive, 2 31.2 KCNJ1 CLDN16 CLCN5 CASR
23 nephrolithiasis, calcium oxalate 31.1 SPP1 SLC34A1 GRHPR CLCN5 CASR AGXT
24 diabetes insipidus, nephrogenic, autosomal 31.0 SLC12A1 KCNJ1 CLCNKB CASR
25 nephrolithiasis 31.0 SPP1 SLC4A1 SLC34A1 SLC12A1 OCRL KCNJ1
26 fanconi syndrome 31.0 SLC34A1 PHEX OCRL CLCN5
27 hereditary distal renal tubular acidosis 31.0 SLC4A1 ATP6V1B1 ATP6V0A4
28 osteomalacia 31.0 SLC34A1 PHEX CYP24A1 CLCN5 CASR
29 aminoaciduria 31.0 SLC34A1 OCRL CLCN5
30 hypophosphatemic rickets, x-linked dominant 30.9 SPP1 SLC34A1 PHEX
31 hyperphosphatemia 30.9 SPP1 SLC34A1 PHEX CASR
32 secondary hyperparathyroidism 30.9 PHEX CYP24A1 CASR
33 cystinuria 30.7 GRHPR CLCN5 AGXT
34 hypophosphatemic rickets with hypercalciuria, hereditary 30.7 SLC34A1 PHEX
35 polyhydramnios 30.6 SLC12A1 KCNJ1 CLCNKB
36 primary hypomagnesemia 30.6 SLC12A1 KCNJ1 CLDN19 CLDN16
37 gitelman syndrome 30.4 SLC12A1 KCNJ1 CLDN16 CLCNKB CASR
38 calciphylaxis 30.2 SPP1 CASR
39 mineral metabolism disease 30.0 SPP1 SLC34A1 SLC12A1 PHEX KCNJ1 CYP24A1
40 antenatal bartter syndrome 29.9 SLC12A1 KCNJ1
41 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 12.7
42 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 12.6
43 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 12.6
44 renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies 12.3
45 amelogenesis imperfecta, type ig 12.2
46 hypomagnesemia 3, renal 12.2
47 amelogenesis imperfecta hypoplastic type, ig 12.2
48 blue diaper syndrome 12.1
49 short syndrome 11.6
50 hyperoxaluria, primary, type ii 11.5

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:

45
# 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

Drugs & Therapeutics for Nephrocalcinosis

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

(show top 50) (show all 77)
# 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
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
6 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
7
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
8
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
9
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
10
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
11
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
12
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 5280795 6221
13
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
14 Respiratory System Agents Phase 3
15 Expectorants Phase 3
16 Adrenocorticotropic Hormone Phase 2, Phase 3
17 Endorphins Phase 2, Phase 3
18 Neurotransmitter Agents Phase 2, Phase 3
19 Melanocyte-Stimulating Hormones Phase 2, Phase 3
20 beta-Endorphin Phase 2, Phase 3
21 Citrate Phase 3
22 Pharmaceutical Solutions Phase 3
23 Hormones Phase 2, Phase 3
24 Hormone Antagonists Phase 2, Phase 3
25 Trace Elements Phase 3
26 Vitamins Phase 3
27 Nutrients Phase 3
28 Calciferol Phase 3
29 Micronutrients Phase 3
30 Antineoplastic Agents, Hormonal Phase 2, Phase 3
31 Methylprednisolone Acetate Phase 2, Phase 3
32 Neuroprotective Agents Phase 2, Phase 3
33 Antiemetics Phase 2, Phase 3
34 Protective Agents Phase 2, Phase 3
35 Gastrointestinal Agents Phase 2, Phase 3
36 Anti-Inflammatory Agents Phase 2, Phase 3
37 glucocorticoids Phase 2, Phase 3
38 diuretics Phase 2, Phase 3
39 Calcium, Dietary Phase 3
40 Sodium Chloride Symporter Inhibitors Phase 2, Phase 3
41 Antihypertensive Agents Phase 2, Phase 3
42
Calcium Nutraceutical Phase 3 7440-70-2 271
43
Calcium carbonate Approved, Investigational Phase 2 471-34-1
44
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
45
Rifampicin Approved Phase 2 13292-46-1 5381226 5458213
46
Amiloride Approved Phase 2 2016-88-8, 2609-46-3 16231
47
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 5280453 134070
48
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
49
Alfacalcidol Approved, Nutraceutical Phase 2 41294-56-8 5282181
50
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037

Interventional clinical trials:

(show all 42)
# 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 Intravenous Methylprednisolone Versus High Dose Oral Prednisolone for the Treatment of Infantile Spasms: a Randomized Open-labelled Trial Recruiting NCT03876444 Phase 2, Phase 3 Intravenous Methylprednisolone;Oral Pednisolone
5 Rapid Normalization of Vitamin D Deficiency in PICU: A Multi-Centre Phase III Double-Blind Randomized Controlled Trial Recruiting NCT03742505 Phase 3 Cholecalciferol
6 Pharmacodynamic Evaluation of the ANTICALCIURIC Effect of Hydrochlorothiazide in Dent's Disease Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
7 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
8 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Completed NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
9 Treatment of Hypoparathyroidism With Synthetic Human Parathyroid Hormone 1-34 Completed NCT00001304 Phase 2 Synthetic Human Parathyroid Hormone 1-34;Calcitriol & Calcium
10 Prevention of Post-Cardiac Surgery Vitamin D Deficiency in Children With Congenital Heart Disease: A Pilot Dose Evaluation Randomized Controlled Trial Completed NCT01838447 Phase 2
11 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
12 Influence of Hydroxyproline Plasma Concentration on Its Metabolism to Oxalate Completed NCT02038543 Phase 1, Phase 2 Hydroxyproline and Leucine
13 Rapid Normalization of Vitamin D in Critically Ill Children: A Phase II Dose Evaluation Randomized Controlled Trial Completed NCT02452762 Phase 2 Vitamin D3;Placebo
14 Vitamin D Dose-Response Study to Establish Dietary Requirements in Infants Completed NCT00381914 Phase 2 Vitamin D;Vitamin D;Vitamin D
15 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene Recruiting NCT03301038 Phase 2 Rifampin
16 A Randomized Crossover TrIal to Compare Recombinant Human rhPTH(1-34) to the ASsociation Alfacalcidol/Hydrochlorothiazide in the Treatment of Severe Primary Hypoparathyroidism Recruiting NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
17 Early High-dose Vitamin C in Post-cardiac Arrest Syndrome Recruiting NCT03509662 Phase 2 Vitamin C;Thiamine;Placebos
18 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Idiopathic Infantile Hypercalcemia Unknown status NCT03384121 Phase 1 Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension
19 Effect of Calcimimetic (Cinacalcet) on Phosphate-Induced Hyperparathyroidism in Children With Hypophosphatemic Rickets Unknown status NCT00195936 Phase 1 Cinacalcet
20 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed NCT00566488 Phase 1
21 Renal Tubular Acidosis in Incident Renal Transplant Recipients Unknown status NCT01283880
22 Search for New Genetic Causes of Hypercalcemia by Massively Parallel Sequencing of a Genes Panel Unknown status NCT02908542
23 Influence of Hypocaloric Diet on Urinary Lithogenic Factors of Obese Patients With Kidney Stones Unknown status NCT02690662
24 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH) Unknown status NCT03268460
25 Assessment of Bone Mineral Content for Preterm Neonates Treated With Caffeine Using Dual Energy X-ray Absorptiometry : an Observational Study Completed NCT03084432
26 Preterm Infants and Nephrocalcinosis: Diagnosis and Pathogenesis Completed NCT02438267
27 Evaluation of Quality of Life in Patients Undergoing Parathyroidectomy Completed NCT00905866
28 Safety and Efficacy of Routine Colonoscopy Preparations Completed NCT00856440 Fleets Oral Sodium Phosphate Solution (OSPS);Colyte;Dual (OSPS & Colyte)
29 "Pilot Study: Proteomics of Primary Hyperoxaluria Type 1 (PH1): A Rare Calcium Oxalate Stone Disease" Completed NCT03067142
30 The Incidence and the Risk Factors of Nephrocalcinosis in Very Preterm Infants at the Neonatology Centre of Vilnius University Hospital Santaros Klinikos Recruiting NCT04382976
31 Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network Recruiting NCT02026388
32 Bi-daily Injection of Subcutaneous Teriparatide in Children With Hypoparathyroidism: Single-center Experience Recruiting NCT04126941
33 Plasma Oxalate in Patient With Short Bowel Recruiting NCT04119765
34 Epi-Hypo: Survey on Epidemiology of Hypoparathyroidism in France Recruiting NCT02838927
35 Randall's Plaques: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806
36 The Impact of Phosphate Metabolism on Healthy Aging Recruiting NCT03771105 Early Phase 1 phosphate
37 Supplementation of Vitamin D in Preterm Infants- Monitored Therapy vs Standard Therapy. A Randomized Controlled Trial Recruiting NCT03087149
38 Evaluation of Pain Before and After Removal of Non-obstructive Kidney Stones Recruiting NCT03657667
39 Characterising Pain, Quality of Life, Body Composition, Arterial Stiffness, Muscle Function, Bone Density and Geometry in Adult Persons With Hereditary Hypophosphatemia and Healthy Controls Recruiting NCT04273490
40 Impact of a Physical Rehabilitation Program on the Quality of Life of Patients With Acromegaly: a Non-randomized Clinical Trial. Recruiting NCT03710499
41 Stone Disease in Children and Their Families Available NCT00765531
42 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, Thymus, Testes, Thyroid

Publications for Nephrocalcinosis

Articles related to Nephrocalcinosis:

(show top 50) (show all 2443)
# Title Authors PMID Year
1
Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium. 61 54
19706394 2009
2
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family. 61 54
19165416 2009
3
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling. 54 61
19296982 2009
4
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. 61 54
19096086 2009
5
Analysis of claudin genes in pediatric patients with Bartter's syndrome. 61 54
19538297 2009
6
A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet. 61 54
18775977 2008
7
Salt and acid-base metabolism in claudin-16 knockdown mice: impact for the pathophysiology of FHHNC patients. 61 54
18784260 2008
8
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene. 54 61
18816383 2008
9
Molecular determinants of magnesium homeostasis: insights from human disease. 61 54
18562569 2008
10
Hypercalciuria revisited: one or many conditions? 61 54
17943325 2008
11
Preliminary observations of urinary calcium and osteopontin excretion in premature infants, term infants and adults. 54 61
18025797 2008
12
[Calcium-sensing receptor and hypoparathyroidism]. 54 61
17660614 2007
13
Transgenic RNAi depletion of claudin-16 and the renal handling of magnesium. 61 54
17442678 2007
14
Hypomagnesemia and nephrocalcinosis in a patient with two heterozygous mutations in the CLDN16 gene. 54 61
17347984 2007
15
Hypercalciuria in patients with CLCN5 mutations. 54 61
16807762 2006
16
Unusual clinical presentation and possible rescue of a novel claudin-16 mutation. 54 61
16705067 2006
17
Hydrochlorothiazide in CLDN16 mutation. 61 54
16595585 2006
18
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
19
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
20
Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16. 61 54
16528408 2006
21
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. 54 61
16804318 2006
22
The role of preemptive liver transplantation in primary hyperoxaluria type 1. 54 61
16284878 2005
23
Paracellin-1 and the modulation of ion selectivity of tight junctions. 54 61
16234325 2005
24
Preconditioning of the distal tubular epithelium of the human kidney precedes nephrocalcinosis. 54 61
16164641 2005
25
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations. 54 61
16047219 2005
26
Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study. 54 61
15856319 2005
27
Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization. 61 54
15895257 2005
28
Phenotype and genotype of Dent's disease in three Korean boys. 61 54
15719255 2005
29
Screening for CLCN5 mutation in renal calcium stone formers patients. 54 61
15692680 2005
30
The diagnostic role of urinary N-acetyl-beta-D-glucosaminidase (NAG) activity in the detection of renal tubular impairment. 61 54
16259316 2005
31
Examination of megalin in renal tubular epithelium from patients with Dent disease. 61 54
15052463 2004
32
A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis. 54 61
14654610 2003
33
Urinary NAG in children with urolithiasis, nephrocalcinosis, or risk of urolithiasis. 54 61
12920632 2003
34
A role for CBS domain 2 in trafficking of chloride channel CLC-5. 61 54
14521953 2003
35
Renal calcification in mice homozygous for the disrupted type IIa Na/Pi cotransporter gene Npt2. 54 61
12674325 2003
36
Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss. 61 54
12584272 2003
37
Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene. 61 54
12185465 2002
38
Primary gene structure and expression studies of rodent paracellin-1. 61 54
11729235 2001
39
Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1. 54 61
10933316 2000
40
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. 61 54
10906158 2000
41
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. 61 54
10878661 2000
42
Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. 61 54
10720930 2000
43
CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis. 61 54
9734595 1998
44
Molecular biology and clinical importance of the Ca(2+)-sensing receptor. 61 54
9757371 1998
45
X-linked recessive nephrolithiasis: presentation and diagnosis in children. 54 61
9602200 1998
46
Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. 61 54
9596078 1998
47
Straightening out the renal tubule: advances in the molecular basis of the inherited tubulopathies. 54 61
9519207 1998
48
Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome. 61 54
9453381 1997
49
Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. 54 61
9328929 1997
50
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). 54 61
9062355 1997

Variations for Nephrocalcinosis

ClinVar genetic disease variations for Nephrocalcinosis:

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

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
12.93 SLC4A1 SLC34A1 SLC12A1 CLCNKB CLCN5 ATP6V1B1
2
Show member pathways
12.16 CLCNKB CLCN5 ATP6V1B1 ATP6V0A4
3
Show member pathways
11.8 SLC4A1 CLCNKB CA2 ATP6V1B1 ATP6V0A4
4 11.52 SLC34A1 CYP24A1 CASR
5 10.99 SPP1 CYP24A1 CA2
6 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 10.01 SPP1 SLC4A1 SLC12A1 GRHPR FAM20A CA2
2 plasma membrane GO:0005886 10 SLC4A1 SLC34A1 SLC12A1 PHEX OCRL KCNJ1
3 apical plasma membrane GO:0016324 9.65 SLC34A1 SLC12A1 CASR ATP6V1B1 ATP6V0A4
4 apical part of cell GO:0045177 9.5 CLCN5 CA2 ATP6V0A4
5 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.37 ATP6V1B1 ATP6V0A4
6 basolateral plasma membrane GO:0016323 9.35 SLC4A1 CLDN19 CASR CA2 ATP6V1B1
7 cell GO:0005623 9.28 SLC4A1 SLC34A1 SLC12A1 FAM20A CLDN16 CASR

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.8 SLC12A1 KCNJ1 CLCNKB CLCN5 ATP6V1B1 ATP6V0A4
2 proton transmembrane transport GO:1902600 9.75 CLCN5 ATP6V1B1 ATP6V0A4
3 chloride transport GO:0006821 9.67 SLC4A1 CLCNKB CLCN5
4 ossification GO:0001503 9.65 SPP1 SLC34A1 CASR ATP6V1B1 ATP6V0A4
5 ion transport GO:0006811 9.61 SLC4A1 SLC34A1 SLC12A1 KCNJ1 CLDN16 CLCNKB
6 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.58 CLDN19 CLDN16
7 biomineral tissue development GO:0031214 9.58 SPP1 PHEX FAM20A
8 positive regulation of bone resorption GO:0045780 9.57 SPP1 CA2
9 regulation of pH GO:0006885 9.56 ATP6V1B1 ATP6V0A4
10 potassium ion homeostasis GO:0055075 9.55 SLC12A1 ATP6V1B1
11 chloride transmembrane transport GO:1902476 9.55 SLC4A1 SLC12A1 CLCNKB CLCN5 CASR
12 response to growth hormone GO:0060416 9.54 SLC34A1 PHEX
13 response to vitamin D GO:0033280 9.54 SPP1 PHEX CYP24A1
14 cellular response to vitamin D GO:0071305 9.52 PHEX CASR
15 chloride ion homeostasis GO:0055064 9.51 SLC12A1 ATP6V1B1
16 cellular response to parathyroid hormone stimulus GO:0071374 9.48 SLC34A1 PHEX
17 cellular nitrogen compound metabolic process GO:0034641 9.46 GRHPR AGXT
18 glyoxylate metabolic process GO:0046487 9.43 GRHPR AGXT
19 excretion GO:0007588 9.17 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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