MCID: NPH003
MIFTS: 48

Nephrocalcinosis malady

Categories: Rare diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Nephrocalcinosis

Aliases & Descriptions for Nephrocalcinosis:

Name: Nephrocalcinosis 12 50 29 52 42 14 69
Hypercalcemic Nephropathy 50 69

Classifications:



External Ids:

Disease Ontology 12 DOID:12679
MeSH 42 D009397
NCIt 47 C84918
UMLS 69 C0027709

Summaries for Nephrocalcinosis

NIH Rare Diseases : 50 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. last updated: 4/17/2017

MalaCards based summary : Nephrocalcinosis, also known as hypercalcemic nephropathy, is related to hypophosphatemic rickets and interstitial nephritis. 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 thyroid, and related phenotypes are Increased shRNA abundance (Z-score > 2) and homeostasis/metabolism

Wikipedia : 71 Nephrocalcinosis, once known as Albright\'s calcinosis after Fuller Albright, or Anderson-Carr kidneys,... more...

Related Diseases for Nephrocalcinosis

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

(show top 50) (show all 149)
id Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets 31.7 CLCN5 CLCNKB CLDN16 SLC12A1
2 interstitial nephritis 29.4 CLCN5 SLC34A1
3 proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 12.2
4 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 12.0
5 dent disease 11.8
6 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.7
7 blue diaper syndrome 11.6
8 hypomagnesemia 3, renal 11.6
9 amelogenesis imperfecta, type ig 11.6
10 hypomagnesemia 5, renal, with ocular involvement 11.4
11 short syndrome 11.1
12 amelogenesis imperfecta hypoplastic type, ig 11.0
13 apparent mineralocorticoid excess 11.0
14 hypocalcemia, autosomal dominant 10.9
15 hypomagnesemia 1, intestinal 10.8
16 nephrolithiasis, type i 10.8
17 dent disease 2 10.8
18 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 10.8
19 renal tubular acidosis, distal, ar 10.8
20 hypercalcemia, infantile 10.8
21 primary hypomagnesemia 10.7
22 lubinsky syndrome 10.7
23 hypogonadism-cataract syndrome 10.7
24 hyperoxaluria, primary, type ii 10.6
25 renal tubular acidosis with deafness 10.6
26 bartter syndrome, type 2 10.6
27 slc4a1-associated distal renal tubular acidosis 10.6
28 bartter syndrome, type 1 10.6
29 hyperoxaluria, primary, type 1 10.6
30 renal tubular acidosis, distal, ad 10.6
31 hypocalcemia, autosomal dominant 2 10.6
32 fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 10.6
33 hypercalcemia, infantile, 2 10.6
34 renal tubular acidosis, distal, autosomal recessive 10.6
35 renal tubular acidosis 10.3
36 obesity, hyperphagia, and developmental delay 10.2 CLDN16 CLDN19
37 ectopic cushing syndrome 10.2 CLDN16 CLDN19
38 cataract 38, autosomal recessive 10.2 ATP6V1B1 SLC4A1
39 retinal cone dystrophy 1 10.2 ATP6V1B1 SLC4A1
40 nephrolithiasis 10.2
41 hyperaldosteronism, familial, type iii 10.1 KCNJ1 SLC12A1
42 congenital sucrase-isomaltase deficiency with starch intolerance 10.1 CYP24A1 SLC34A1
43 uv-sensitive syndrome 10.1 AGXT CLDN16
44 deafness, nonsyndromic, modifier 1 10.1 CLCN5 CLDN16 KCNJ1
45 rickets 10.1
46 waardenburg syndrome, type 4b 10.1 CYP24A1 SLC34A1
47 dysphagia lusoria 10.1 KCNJ1 SLC12A1
48 prostate cancer, hereditary, x-linked 2 10.0 CLCN5 SLC34A1
49 primary hyperoxaluria 10.0
50 microphthalmia, isolated, with coloboma 7 10.0 KCNJ1 SLC4A1

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
id 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 SLC34A1 SLC4A1 SLC12A1
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:

44
id 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 9.36 CLCN5 CLCNKB CLDN16 CYP24A1 GRHPR KCNJ1

Drugs & Therapeutics for Nephrocalcinosis

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

(show top 50) (show all 55)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Potassium Citrate Approved, 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 Anticoagulants Phase 3
5 Calcium, Dietary Phase 3,Phase 2,Phase 1
6 Chelating Agents Phase 3
7 diuretics Phase 3,Phase 2
8 Expectorants Phase 3
9 Natriuretic Agents Phase 3,Phase 2
10 Pharmaceutical Solutions Phase 3
11 Respiratory System Agents Phase 3
12 Adrenocorticotropic Hormone Phase 2, Phase 3
13 beta-endorphin Phase 2, Phase 3
14 Bone Density Conservation Agents Phase 2, Phase 3
15 Endorphins Phase 2, Phase 3
16 Hormone Antagonists Phase 2, Phase 3
17 Hormones Phase 2, Phase 3
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
19 Melanocyte-Stimulating Hormones Phase 2, Phase 3
20 Neurotransmitter Agents Phase 2, Phase 3
21 vitamin d Phase 3
22 Vitamins Phase 3,Phase 2
23 Antihypertensive Agents Phase 2, Phase 3
24 Sodium Chloride Symporter Inhibitors Phase 2, Phase 3
25 Calcimimetic Agents Phase 3
26 Cinacalcet Hydrochloride Phase 3
27 Citrate Nutraceutical Phase 3
28
Citric Acid Nutraceutical, Vet_approved Phase 3 77-92-9 311
29
Amiloride Approved Phase 2 2016-88-8, 2609-46-3 16231
30
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
31
Alfacalcidol Approved, Nutraceutical Phase 2 41294-56-8 5282181
32 potassium phosphate Phase 1, Phase 2
33 Diuretics, Potassium Sparing Phase 2
34 Hydroxycholecalciferols Phase 2
35 Micronutrients Phase 2
36 Sodium Channel Blockers Phase 2
37 Trace Elements Phase 2
38 Phosphorus Supplement Nutraceutical Phase 1, Phase 2
39
Magnesium Sulfate Approved, Vet_approved 7487-88-9 24083
40
Caffeine Approved, Nutraceutical 58-08-2 2519
41
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
42 Central Nervous System Stimulants
43 Phosphodiesterase Inhibitors
44 Purinergic P1 Receptor Antagonists
45 Ergocalciferols
46 Analgesics
47 Anesthetics
48 Anti-Arrhythmia Agents
49 Anticonvulsants
50 calcium channel blockers

Interventional clinical trials:

(show all 16)
id Name Status NCT ID Phase
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
2 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3
3 Alkaline Citrate Treatment to Lower the Risk of Nephrocalcinosis in Preterm Infants Completed NCT00249951 Phase 3
4 Effects of PTH Replacement on Bone in Hypoparathyroidism Active, not recruiting NCT00395538 Phase 3
5 Treatment of Primary Hyperparathyroidism With Denosumab and Cinacalcet. Not yet recruiting NCT03027557 Phase 3
6 Dose-Dependent Effect of Thiazide in Dent's Disease Hypercalciuria Terminated NCT00638482 Phase 2, Phase 3
7 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2
8 Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Autosomal Dominant Hypocalcemia Recruiting NCT02824718 Phase 2
9 Renal Tubular Acidosis in Incident Renal Transplant Recipients Unknown status NCT01283880
10 Preterm Infants and Nephrocalcinosis Completed NCT02438267
11 Effect of Caffeine on Preterm Infants' Bone Mineral Content Completed NCT03084432
12 Search for New Genetic Causes of Hypercalcemia by Massively Parallel Sequencing of a Genes Panel Recruiting NCT02908542
13 Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806
14 Monitored vs Standard Supplementation of Vitamin D in Preterm Infants Recruiting NCT03087149
15 Effect of Magnesium Sulfate Infusion Rate on Magnesium Retention in Critically Ill Patients Terminated NCT01426165
16 International Registry for Primary Hyperoxaluria Withdrawn NCT00875823

Search NIH Clinical Center for Nephrocalcinosis

Cochrane evidence based reviews: nephrocalcinosis

Genetic Tests for Nephrocalcinosis

Genetic tests related to Nephrocalcinosis:

id Genetic test Affiliating Genes
1 Nephrocalcinosis 29

Anatomical Context for Nephrocalcinosis

MalaCards organs/tissues related to Nephrocalcinosis:

39
Kidney, Bone, Thyroid, Liver, Heart, T Cells, Testes

Publications for Nephrocalcinosis

Articles related to Nephrocalcinosis:

(show top 50) (show all 565)
id Title Authors Year
1
Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations. ( 28405841 )
2017
2
Medullary Nephrocalcinosis in a Furosemide Abuser. ( 28090060 )
2017
3
Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair. ( 27007868 )
2016
4
Rare case of nephrocalcinosis in a 14-year-old girl: Questions. ( 27384690 )
2016
5
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. ( 26787776 )
2016
6
Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis. ( 27605580 )
2016
7
Osteopontin protects against high phosphate-induced nephrocalcinosis andA vascularA calcification. ( 27083280 )
2016
8
A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family. ( 27067446 )
2016
9
A rare case of nephrocalcinosis in the distal tubules caused by hereditary renal hypouricemia three months after kidney transplantation. ( 26971588 )
2016
10
Bilateral Nephrocalcinosis in Primary Distal Renal Tubular Acidosis. ( 27090423 )
2016
11
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. ( 27530400 )
2016
12
Hashimoto Thyroiditis and Nephrocalcinosis in a Child with Down Syndrome. ( 27147809 )
2016
13
Rare case of nephrocalcinosis in a 14-year-old girl: Answers. ( 27384692 )
2016
14
Pseudoxanthoma elasticum and nephrocalcinosis. ( 27181788 )
2016
15
Nephrocalcinosis in Tunisian children. ( 27704510 )
2016
16
Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency. ( 27378183 )
2016
17
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature. ( 27079129 )
2016
18
Lakes of Extramedullary Hematopoiesis in a Renal Hemangioma With Extensive Nephrocalcinosis. ( 27571793 )
2016
19
Recent advances in managing and understanding nephrolithiasis/nephrocalcinosis. ( 27134735 )
2016
20
Failure to thrive and nephrocalcinosis due to distal renal tubular acidosis: A rare presentation of pediatric lupus nephritis. ( 27900972 )
2016
21
Hypercalcemia and nephrocalcinosis complicating subcutaneous fat necrosis in a newborn after therapeutic hypothermia. ( 27277205 )
2016
22
Re: Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. ( 27479436 )
2016
23
Bilateral nephrocalcinosis in primary hyperoxaluria type 1. ( 27795638 )
2016
24
Nephrocalcinosis and retinal dystrophy, rare manifestations of MPV17-related mitochondrial depletion syndrome? ( 27668186 )
2016
25
Nephrocalcinosis in Calcium Stone Formers Who Do Not have Systemic Disease. ( 25988516 )
2015
26
Re: Loss-of-Function Mutations of CYP24A1, the Vitamin D 24-hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis. ( 26088734 )
2015
27
Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis. ( 26090995 )
2015
28
Posttransplant nephrocalcinosis is associated with poor renal allograft function: a single-center experience. ( 25829877 )
2015
29
Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 25720051 )
2015
30
Re: Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. ( 25986801 )
2015
31
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics. ( 26613020 )
2015
32
Nephrolithiasis and Nephrocalcinosis in Children - Metabolic and Genetic Factors. ( 26540764 )
2015
33
Medullary nephrocalcinosis in Schimke immuno-osseous dysplasia. ( 25868949 )
2015
34
Risk factors affecting the development of nephrocalcinosis, the most common complication of hypophosphatemic rickets. ( 26203600 )
2015
35
Lots of steroids and vitamins, tons of complications. Hypercalcemia and nephrocalcinosis as important complications of performance-enhancing drugs. ( 26474528 )
2015
36
An Association of Chronic Hyperaldosteronism with Medullary Nephrocalcinosis. ( 26413177 )
2015
37
Revisiting nephrocalcinosis: A single-center perspective. ( 26058976 )
2015
38
A Spectrum: Nephrocalcinosis-Nephrolithiasis. ( 26279238 )
2015
39
Microscopic nephrocalcinosis in chronic kidney disease patients. ( 25586405 )
2015
40
First Report of a Novel Missense CLDN19 Mutations Causing Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in a Chinese Family. ( 25555744 )
2015
41
Re: Nephrocalcinosis is a Risk Factor for Kidney Failure in Primary Hyperoxaluria. ( 25765399 )
2015
42
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. ( 25595726 )
2015
43
What is nephrocalcinosis? ( 25807034 )
2015
44
Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis. ( 26304832 )
2015
45
Bilateral nephrocalcinosis and amelogenesis imperfecta: A case report. ( 26097369 )
2015
46
Renal Cysts and Nephrocalcinosis in a Patient Deficient in 11 beta-Hydroxylase Enzyme. ( 26309449 )
2015
47
Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations. ( 25477417 )
2015
48
Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 25410674 )
2014
49
Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis. ( 25050900 )
2014
50
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: variable phenotypic expression in three affected sisters from Mexican ancestry. ( 25366522 )
2014

Variations for Nephrocalcinosis

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 ATP6V1B1 CLCN5 CLCNKB SLC12A1 SLC34A1 SLC4A1
2
Show member pathways
11.99 ATP6V1B1 CLCNKB SLC4A1
3
Show member pathways
11.04 AGXT GRHPR
4
Show member pathways
10.87 AGXT GRHPR
5 10.6 AGXT GRHPR
6 10.26 CLCNKB KCNJ1 SLC12A1

GO Terms for Nephrocalcinosis

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

id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.43 ATP6V1B1 SLC12A1 SLC34A1
2 plasma membrane GO:0005886 9.28 CLCN5 CLCNKB CLDN16 CLDN19 CYP24A1 KCNJ1
3 peroxisomal matrix GO:0005782 9.16 AGXT GRHPR
4 basolateral plasma membrane GO:0016323 9.13 ATP6V1B1 CLDN19 SLC4A1

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.92 ATP6V1B1 CLCN5 CLCNKB CLDN16 KCNJ1 SLC12A1
2 ion transmembrane transport GO:0034220 9.67 ATP6V1B1 CLCN5 CLCNKB SLC12A1
3 chloride transmembrane transport GO:1902476 9.56 CLCN5 CLCNKB SLC12A1 SLC4A1
4 ion transport GO:0006811 9.56 ATP6V1B1 CLCN5 CLCNKB CLDN16 KCNJ1 SLC12A1
5 glyoxylate metabolic process GO:0046487 9.48 AGXT GRHPR
6 cellular nitrogen compound metabolic process GO:0034641 9.46 AGXT GRHPR
7 chloride transport GO:0006821 9.46 CLCN5 CLCNKB SLC12A1 SLC4A1
8 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.43 CLDN16 CLDN19
9 regulation of anion transmembrane transport GO:1903959 9.4 CLCN5 CLCNKB
10 excretion GO:0007588 9.1 ATP6V1B1 CLCN5 CLCNKB CLDN16 GRHPR KCNJ1

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

id Name GO ID Score Top Affiliating Genes
1 voltage-gated chloride channel activity GO:0005247 8.62 CLCN5 CLCNKB

Sources for Nephrocalcinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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