MCID: IDP073
MIFTS: 43

Idiopathic Hypercalciuria

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Idiopathic Hypercalciuria

MalaCards integrated aliases for Idiopathic Hypercalciuria:

Name: Idiopathic Hypercalciuria 58 71

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

ICD10 via Orphanet 33 E83.5
UMLS via Orphanet 72 C0543800
Orphanet 58 ORPHA2197
UMLS 71 C0543800

Summaries for Idiopathic Hypercalciuria

MalaCards based summary : Idiopathic Hypercalciuria is related to hypercalciuria, absorptive, 2 and secondary hyperparathyroidism. An important gene associated with Idiopathic Hypercalciuria is ADCY10 (Adenylate Cyclase 10), and among its related pathways/superpathways are Rheumatoid arthritis and Glucocorticoid receptor regulatory network. The drugs Chlorthalidone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and testes, and related phenotypes are hypercalciuria and renal calcium wasting

Related Diseases for Idiopathic Hypercalciuria

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

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 hypercalciuria, absorptive, 2 32.2 VDR SLC34A3 CLCN5 CASR ADCY10
2 secondary hyperparathyroidism 32.1 VDR SLPI NR1I3 CASR BGLAP
3 bone resorption disease 30.7 VDR TNFSF11 CASR BGLAP
4 hypophosphatemia 30.5 VDR SLC34A3 CLCN5 BGLAP
5 bartter disease 30.4 REN CLCN5 CASR
6 hypophosphatemic rickets, x-linked recessive 30.4 VDR SLC34A3 CLCN5
7 hypoparathyroidism 30.1 VDR PRKAR1A NR1I3 CASR BGLAP
8 rickets 30.1 VDR SLC34A3 CLCN5 CASR BGLAP
9 primary hyperparathyroidism 29.9 VDR TNFSF11 PRKAR1A NR1I3 CASR BGLAP
10 osteomalacia 29.7 VDR TNFSF11 SLC34A3 CLCN5 CASR BGLAP
11 urinary tract obstruction 29.6 SLPI REN NAGLU
12 nephrocalcinosis 29.6 TRPV5 SLC34A3 REN CLCN5 CASR
13 hyperparathyroidism 29.6 VDR TNFSF11 SLPI PRKAR1A NR1I3 CASR
14 nephrolithiasis, calcium oxalate 29.3 VDR TRPV5 SLC34A3 REN NAGLU CLCN5
15 diabetes mellitus 28.5 VDR SLPI REN NAGLU IL1B EDN1
16 bone disease 28.5 VDR TNFSF11 SLPI SLC34A3 NR1I3 IL1B
17 osteoporosis 28.3 VDR TNFSF11 SLPI PRKAR1A IL1B FGF2
18 kidney disease 28.1 VDR SLPI REN NPPA NAGLU EDN1
19 hypomagnesemia 5, renal, with or without ocular involvement 11.6
20 acute cystitis 10.4
21 autoimmune hypoparathyroidism 10.4 PRKAR1A CASR
22 palladium allergic contact dermatitis 10.4 IL1B CSF2
23 scleroderma, familial progressive 10.4 EDN1 BMP6
24 hyperphosphatemia 10.3 VDR CASR BGLAP
25 hypercalcemia, infantile, 1 10.3 VDR CASR
26 hypoaldosteronism 10.3 REN NPPA
27 bone mineral density quantitative trait locus 8 10.3
28 bone mineral density quantitative trait locus 15 10.3
29 gastroschisis 10.3 NPPA IL1B BMP6
30 hypertension, diastolic 10.3 REN NPPA
31 dupuytren contracture 10.3 IL1B FGF2 BMP6
32 dwarfism 10.3
33 renal tubular transport disease 10.2 REN CLCN5 CASR
34 uremic pruritus 10.2 SLC17A5 IL1B
35 sarcoidosis 1 10.2
36 vesicoureteral reflux 1 10.2
37 hyperparathyroidism, neonatal severe 10.2 PRKAR1A NR1I3 CASR
38 leprosy 3 10.2 VDR IL1B CSF2
39 malignant hypertension 10.2 REN NPPA EDN1
40 renovascular hypertension 10.2 REN NPPA EDN1
41 acute kidney tubular necrosis 10.2 REN NPPA NAGLU
42 microvascular complications of diabetes 3 10.2 REN NAGLU BMP6
43 parathyroid adenoma 10.2 VDR PRKAR1A CASR BGLAP
44 pericardial effusion 10.2 REN NPPA FGF2
45 hypertensive heart disease 10.1 REN NPPA FGF2
46 hypophosphatemic rickets with hypercalciuria, hereditary 10.1
47 bone mineral density quantitative trait locus 3 10.1
48 renal tubular acidosis 10.1
49 taqi polymorphism 10.1 VDR REN
50 depersonalization disorder 10.1 TNFSF11 NPPA

Graphical network of the top 20 diseases related to Idiopathic Hypercalciuria:



Diseases related to Idiopathic Hypercalciuria

Symptoms & Phenotypes for Idiopathic Hypercalciuria

Human phenotypes related to Idiopathic Hypercalciuria:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypercalciuria 58 31 obligate (100%) Obligate (100%) HP:0002150
2 renal calcium wasting 58 31 obligate (100%) Obligate (100%) HP:0012637
3 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
4 calcium oxalate nephrolithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0008672
5 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
6 abnormal concentration of calcium in blood 58 Excluded (0%)
7 parathormone-independent increased renal tubular calcium reabsorption 58 Excluded (0%)

MGI Mouse Phenotypes related to Idiopathic Hypercalciuria:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 BMP6 CASR CLCN5 CSF2 EDN1 IL1B
2 homeostasis/metabolism MP:0005376 10.3 ADCY10 CASR CLCN5 CSF2 EDN1 FGF2
3 cellular MP:0005384 10.22 ADCY10 CASR CLCN5 CSF2 FGF2 NAGLU
4 cardiovascular system MP:0005385 10.19 ADCY10 CSF2 EDN1 FGF2 IL1B NAGLU
5 hematopoietic system MP:0005397 10.18 CASR CSF2 FGF2 IL1B NAGLU NPPA
6 mortality/aging MP:0010768 10.13 CASR CSF2 EDN1 FGF2 IL1B NAGLU
7 craniofacial MP:0005382 10.06 CLCN5 CSF2 EDN1 IL1B NAGLU PRKAR1A
8 muscle MP:0005369 9.86 CASR EDN1 FGF2 NPPA PRKAR1A REN
9 renal/urinary system MP:0005367 9.85 CASR CLCN5 CSF2 EDN1 NAGLU NPPA
10 reproductive system MP:0005389 9.61 ADCY10 BMP6 CSF2 FGF2 NR1I3 PRKAR1A
11 skeleton MP:0005390 9.44 BMP6 CASR CLCN5 CSF2 EDN1 FGF2

Drugs & Therapeutics for Idiopathic Hypercalciuria

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Chlorthalidone Approved Phase 2 77-36-1 2732
2
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
3
Polyestradiol phosphate Approved Phase 2 28014-46-2
4
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
5 Calcium, Dietary Phase 2
6 Antihypertensive Agents Phase 2
7 Natriuretic Agents Phase 2
8 Sodium Chloride Symporter Inhibitors Phase 2
9 diuretics Phase 2
10 Hormones Phase 2
11 Hormone Antagonists Phase 2
12 Estrogens Phase 2
13 Estradiol 17 beta-cypionate Phase 2
14 Estradiol 3-benzoate Phase 2
15 Contraceptive Agents Phase 2
16
Spironolactone Approved 1952-01-7, 52-01-7 5833
17
Acetazolamide Approved, Vet_approved 59-66-5 1986
18
Potassium citrate Approved, Investigational, Vet_approved
19
Sodium citrate Approved, Investigational 68-04-2
20
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
21
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
22 Mineralocorticoids
23 Mineralocorticoid Receptor Antagonists
24 Diuretics, Potassium Sparing
25 Citrate
26 Respiratory System Agents
27 Anticoagulants
28 Chelating Agents
29 Carbonic Anhydrase Inhibitors
30 Anticonvulsants
31 Expectorants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Calcium Nephrolithiasis: Clinical Characteristics and Nutritional Determinants Completed NCT01005082 Phase 2, Phase 3
2 Safety and Efficacy of Chlorthalidone to Reduce Urinary Calcium Excretion in Adolescents/Yount Adult With Type 1 Diabetes Recruiting NCT03325114 Phase 2 Chlorthalidone
3 The Effects of Estrogen Replacement Therapy in Postmenopausal Women With Hypercalciuria and Low Bone Mass Terminated NCT01928082 Phase 2 Transdermal estradiol
4 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009
5 Spironolactone to Decrease Potassium Wasting in Hypercalciuric Patients Treated With Thiazide Diuretics Completed NCT00276289 Spironolactone
6 Urinary Chemistry and Acid-Base Effects of Potassium Citrate in Children With Idiopathic Hypercalciuria and Urolithiasis Completed NCT00120731 Potassium Citrate;Acetazolamide
7 Comparison of the Impact of Nutritional Treatment vs Hydrochlorothiazide on Bone Mineral Density and Body Composition in Children With Idiopathic Hypercalciuria of the Hospital Infantil de Méxio Federico Gómez Recruiting NCT03951558 Hydrochlorothiazide

Search NIH Clinical Center for Idiopathic Hypercalciuria

Genetic Tests for Idiopathic Hypercalciuria

Anatomical Context for Idiopathic Hypercalciuria

MalaCards organs/tissues related to Idiopathic Hypercalciuria:

40
Bone, Kidney, Testes, Heart, Monocytes, Breast, Liver

Publications for Idiopathic Hypercalciuria

Articles related to Idiopathic Hypercalciuria:

(show top 50) (show all 655)
# Title Authors PMID Year
1
Evidence for disordered acid-base handling in calcium stone-forming patients. 61
31790303 2020
2
Risk factors for development of urinary tract infection in children with nephrolithiasis. 61
31090155 2020
3
TRPV5 in renal tubular calcium handling and its potential relevance for nephrolithiasis. 61
31471161 2019
4
Longitudinal study of kidney water management in patients diagnosed with idiopathic hypercalciuria in childhood. 61
31806292 2019
5
Inherited conditions resulting in nephrolithiasis. 61
31789978 2019
6
The idiopathic hypercalciuria reviewed. Metabolic abnormality or disease? 61
31160051 2019
7
Chlorthalidone Is Superior to Potassium Citrate in Reducing Calcium Phosphate Stones and Increasing Bone Quality in Hypercalciuric Stone-Forming Rats. 61
31101664 2019
8
Paracellular calcium transport in the proximal tubule and the formation of kidney stones. 61
30838875 2019
9
Bone resorption in dogs with calcium oxalate urolithiasis and idiopathic hypercalciuria. 61
30641472 2019
10
Role of Calcium to Citrate Ratio in Predicting Stone Formation in Idiopathic Hypercalciuria Children (2-12 Years Old). 61
30322785 2019
11
Approach to the Child with Hematuria. 61
30454740 2019
12
[Idiopathic hypercalciuria: can the diuretics be avoided?] 61
31829950 2019
13
The Demographic Diversity of Food Intake and Prevalence of Kidney Stone Diseases in the Indian Continent. 61
30669549 2019
14
Does idiopathic hypercalciuria affect bone metabolism during childhood? A prospective case-control study. 61
30043116 2018
15
Assessment of Cross-correlations Between Selected Macromolecules in Urine of Children with Idiopathic Hypercalciuria. 61
29353465 2018
16
[A family history of renal lithiasis in children diagnosed of urinary tract infection by Escherichia coli]. 61
28587907 2018
17
The impact of vitamin D supplementation on vitamin D level, urinary calcium excretion and bone density in patients with hypercalciuria and vitamin D deficiency - preliminary report. 61
30056401 2018
18
Idiopathic hypercalciuria: Can we prevent stones and protect bones? 61
29328898 2018
19
[Calcium response to vitamin D supplementation]. 61
29360069 2018
20
[Idiopathic hypercalciuria. Diagnosis and treatment]. 61
29376607 2017
21
Medullary nephrocalcinosis in idiopathic hypercalciuria. 61
29152298 2017
22
Prevalence of idiopathic hypercalciuria in children with urinary system related symptoms attending a pediatric hospital in Bandar Abbas in 2014. 61
29038707 2017
23
[The long-term results of the treatment of renal hypercalciuria - a report of two cases]. 61
28662013 2017
24
A variant in a cis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones. 61
28229505 2017
25
A randomized controlled trial of the effects of hydrochlorothiazide on overactive bladder and idiopathic hypercalciuria. 61
28540894 2017
26
Thiazide Treatment in Primary Hyperparathyroidism-A New Indication for an Old Medication? 61
28388724 2017
27
Preventive Kidney Stones: Continue Medical Education. 61
28966756 2017
28
Is the renal kallikrein-kinin system a factor that modulates calciuria? 61
27469036 2017
29
Idiopathic hypercalciuria and formation of calcium renal stones. 61
27452364 2016
30
Intestinal Calcium Absorption among Hypercalciuric Patients with or without Calcium Kidney Stones. 61
27284011 2016
31
Metabolic risk factors in children with asymptomatic hematuria. 61
26913725 2016
32
Integrative microRNA-gene expression network analysis in genetic hypercalciuric stone-forming rat kidney. 61
27069814 2016
33
Assessment of Urine Proteomics in Type 1 Primary Hyperoxaluria. 61
27161247 2016
34
Kidney stones: Composition, frequency and relation to metabolic diagnosis. 61
27959841 2016
35
Nephrolithiasis and Nephrocalcinosis in Children - Metabolic and Genetic Factors. 61
26540764 2015
36
Therapeutic Efficacy of Hydrochlorothiazide in Primary Monosymptomatic Nocturnal Enuresis in Boys With Idiopathic Hypercalciuria. 61
26543832 2015
37
Biochemical diagnosis in 3040 kidney stone formers in Argentina. 61
25958053 2015
38
Role of calcium in the regulation of bone morphogenetic protein 2, runt-related transcription factor 2 and Osterix in primary renal tubular epithelial cells by the vitamin D receptor. 61
25823394 2015
39
BONE MINERAL DENSITY IN CHILDREN WITH IDIOPATHIC HYPERCALCIURIA. 61
26958681 2015
40
Sex differences in proximal and distal nephron function contribute to the mechanism of idiopathic hypercalcuria in calcium stone formers. 61
25947170 2015
41
Modeling hypercalciuria in the genetic hypercalciuric stone-forming rat. 61
26050120 2015
42
Biopsy proven medullary sponge kidney: clinical findings, histopathology, and role of osteogenesis in stone and plaque formation. 61
25615853 2015
43
Calcium ions promote primary renal epithelial cell differentiation into cells with bone-associated phenotypes via transforming growth factor-β1-induced epithelial-mesenchymal transition in idiopathic hypercalciuria patients. 61
25394514 2015
44
[Clinical and biochemical characterization of childhood urolithiasis]. 61
25287140 2014
45
Clinical profile and outcome of renal tubular disorders in children: A single center experience. 61
25484529 2014
46
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. 61
24700880 2014
47
Idiopathic hypercalciuria in children with urinary tract infection. 61
25192523 2014
48
Idiopathic hypercalciuria in children with urinary tract infection. 61
25192518 2014
49
Expression of fibroblast growth factor 23, vitamin D receptor, and sclerostin in bone tissue from hypercalciuric stone formers. 61
24763863 2014
50
Comparison of urinary sodium and potassium in children older than two with idiopathic hypercalciuria and a healthy control group in Bandar-Abbas, Iran, in 2013. 61
25763161 2014

Variations for Idiopathic Hypercalciuria

Expression for Idiopathic Hypercalciuria

Search GEO for disease gene expression data for Idiopathic Hypercalciuria.

Pathways for Idiopathic Hypercalciuria

GO Terms for Idiopathic Hypercalciuria

Cellular components related to Idiopathic Hypercalciuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.8 VDR TRPV5 SLC34A3 FGF2 EDN1 CASR
2 extracellular region GO:0005576 9.7 TNFSF11 SLPI REN NPPA IL1B FGF2
3 apical part of cell GO:0045177 9.5 REN CLCN5 ADCY10
4 vesicle GO:0031982 9.46 SLC34A3 IL1B BMP6 BGLAP
5 basal part of cell GO:0045178 9.37 EDN1 ADCY10
6 extracellular space GO:0005615 9.32 TNFSF11 SLPI REN NPPA IL1B FGF2

Biological processes related to Idiopathic Hypercalciuria according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.07 VDR TNFSF11 NR1I3 IL1B FGF2 EDN1
2 immune response GO:0006955 9.97 TNFSF11 SLPI IL1B CSF2 BMP6
3 cellular response to lipopolysaccharide GO:0071222 9.76 VDR NR1I3 IL1B CSF2
4 cellular response to mechanical stimulus GO:0071260 9.73 NPPA IL1B BMP6
5 cellular response to drug GO:0035690 9.72 REN IL1B EDN1
6 regulation of blood pressure GO:0008217 9.71 REN NPPA EDN1
7 response to lipopolysaccharide GO:0032496 9.71 SLPI REN IL1B EDN1
8 positive regulation of MAP kinase activity GO:0043406 9.69 TNFSF11 FGF2 EDN1
9 skeletal system development GO:0001501 9.67 VDR EDN1 BMP6 BGLAP
10 positive regulation of cell proliferation GO:0008284 9.63 IL1B FGF2 EDN1 CSF2 CASR BMP6
11 regulation of osteoclast differentiation GO:0045670 9.58 TNFSF11 BGLAP
12 cellular response to vitamin D GO:0071305 9.58 CASR BGLAP
13 response to activity GO:0014823 9.5 EDN1 BMP6 BGLAP
14 paracrine signaling GO:0038001 9.49 TNFSF11 FGF2
15 positive regulation of prostaglandin secretion GO:0032308 9.48 IL1B EDN1
16 epithelial fluid transport GO:0042045 9.43 EDN1 CSF2
17 positive regulation of gene expression GO:0010628 9.43 VDR TNFSF11 IL1B CSF2 CASR BMP6
18 histamine secretion GO:0001821 9.26 EDN1 CSF2
19 ossification GO:0001503 8.92 TNFSF11 CASR BMP6 BGLAP

Molecular functions related to Idiopathic Hypercalciuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear receptor transcription coactivator activity GO:0030374 9.13 VDR NR1I3 FGF2
2 cytokine activity GO:0005125 9.1 TNFSF11 IL1B FGF2 EDN1 CSF2 BMP6

Sources for Idiopathic Hypercalciuria

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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