MCID: IDP073
MIFTS: 48

Idiopathic Hypercalciuria

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Idiopathic Hypercalciuria

MalaCards integrated aliases for Idiopathic Hypercalciuria:

Name: Idiopathic Hypercalciuria 60 74

Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

ICD10 via Orphanet 35 E83.5
UMLS via Orphanet 75 C0543800
Orphanet 60 ORPHA2197
UMLS 74 C0543800

Summaries for Idiopathic Hypercalciuria

MalaCards based summary : Idiopathic Hypercalciuria is related to hypercalciuria, absorptive, 2 and bone resorption disease. An important gene associated with Idiopathic Hypercalciuria is ADCY10 (Adenylate Cyclase 10), and among its related pathways/superpathways are TNF signaling pathway and Rheumatoid arthritis. The drugs Calcium and Vitamin D 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 75)
# Related Disease Score Top Affiliating Genes
1 hypercalciuria, absorptive, 2 32.2 ADCY10 CASR CLCN5 SLC34A3 VDR
2 bone resorption disease 30.6 BGLAP TNFSF11 VDR
3 hyperparathyroidism 30.4 BGLAP CASR NR1I3 PRKAR1A VDR
4 nephrolithiasis 30.1 ADCY10 CASR CLCN5 SLC34A3 TRPV5 VDR
5 hypophosphatemic rickets, x-linked recessive 30.1 CLCN5 SLC34A3 VDR
6 nephrolithiasis, calcium oxalate 30.0 CASR CLCN5 NAGLU VDR
7 primary hyperparathyroidism 29.9 BGLAP CASR NR1I3 PRKAR1A VDR
8 rickets 29.9 BGLAP CLCN5 SLC34A3 VDR
9 nephrocalcinosis 29.8 CASR CLCN5 SLC34A3
10 osteoporosis 29.0 BGLAP CASR IL1B PRKAR1A SLPI TNFSF11
11 bone disease 28.9 BGLAP CASR IL1B SLC34A3 SLPI TNFSF11
12 hypomagnesemia 5, renal, with or without ocular involvement 11.5
13 secondary hyperparathyroidism of renal origin 10.4 BGLAP CASR VDR
14 renal osteodystrophy 10.3 BGLAP CASR VDR
15 autoimmune hypoparathyroidism 10.3 CASR PRKAR1A
16 osteomalacia 10.3 BGLAP CASR VDR
17 malignant hypertensive renal disease 10.3 EDN1 REN
18 hypervitaminosis d 10.3 TRPV5 VDR
19 malignant renovascular hypertension 10.3 EDN1 REN
20 acute cystitis 10.3
21 parathyroid adenoma 10.3 BGLAP CASR VDR
22 hypoaldosteronism 10.3 NPPA REN
23 hypercalcemia, infantile, 1 10.3 CASR PRKAR1A VDR
24 pulmonary hypertension, primary, 1 10.3 BMP6 EDN1 NPPA
25 hypocalcemia, autosomal dominant 1 10.3 CASR PRKAR1A VDR
26 xanthinuria, type i 10.3 CASR NAGLU VDR
27 malignant hypertension 10.2 EDN1 NPPA REN
28 bartter disease 10.2 CASR CLCN5 REN
29 hepatorenal syndrome 10.2 EDN1 NPPA REN
30 pericardial effusion 10.2 FGF2 NPPA REN
31 renovascular hypertension 10.2 EDN1 NPPA REN
32 malignant secondary hypertension 10.2 EDN1 REN
33 perinephritis 10.2 EDN1 REN
34 bone remodeling disease 10.2 BGLAP TNFSF11 VDR
35 dupuytren contracture 10.2 BMP6 FGF2 IL1B
36 phosphorus metabolism disease 10.2 CASR SLC34A3 VDR
37 congenital hepatic fibrosis 10.2 REN SLC17A5
38 multiple endocrine neoplasia, type i 10.2 CASR FGF2 PRKAR1A
39 obstructive jaundice 10.1 EDN1 REN SLC17A5
40 hypophosphatemia 10.1 BGLAP CLCN5 SLC34A3
41 periodontitis, chronic 10.1 IL1B TNFSF11
42 aortic valve disease 2 10.1 NPPA REN TNFSF11
43 parathyroid gland disease 10.1 ADCY10 BGLAP CASR VDR
44 urinary system disease 10.1 EDN1 NAGLU REN
45 burns 10.1 CSF2 IL1B
46 congestive heart failure 10.0 EDN1 NPPA REN
47 sleep apnea 10.0 EDN1 IL1B REN
48 arteries, anomalies of 10.0 EDN1 IL1B REN
49 hyperparathyroidism, neonatal severe 10.0 CASR NR1I3 PRKAR1A
50 secondary hyperparathyroidism 10.0

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:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypercalciuria 60 33 obligate (100%) Obligate (100%) HP:0002150
2 renal calcium wasting 60 33 obligate (100%) Obligate (100%) HP:0012637
3 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
4 calcium oxalate nephrolithiasis 60 33 frequent (33%) Frequent (79-30%) HP:0008672
5 osteoporosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000939
6 abnormal concentration of calcium in blood 60 Excluded (0%)
7 parathormone-independent increased renal tubular calcium reabsorption 60 Excluded (0%)

MGI Mouse Phenotypes related to Idiopathic Hypercalciuria:

47 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.33 BMP6 CASR CLCN5 CSF2 EDN1 IL1B
2 homeostasis/metabolism MP:0005376 10.33 ADCY10 CASR CLCN5 CSF2 EDN1 FGF2
3 cellular MP:0005384 10.24 ADCY10 CASR CLCN5 CSF2 FGF2 NAGLU
4 behavior/neurological MP:0005386 10.22 CASR CSF2 FGF2 NAGLU PRKAR1A REN
5 cardiovascular system MP:0005385 10.21 ADCY10 CSF2 EDN1 FGF2 IL1B NAGLU
6 hematopoietic system MP:0005397 10.21 CASR CSF2 FGF2 IL1B NAGLU NPPA
7 mortality/aging MP:0010768 10.13 CASR CSF2 EDN1 FGF2 IL1B NAGLU
8 craniofacial MP:0005382 10.08 CLCN5 CSF2 EDN1 IL1B NAGLU PRKAR1A
9 immune system MP:0005387 10.07 CASR CSF2 IL1B NAGLU PRKAR1A REN
10 muscle MP:0005369 9.86 CASR EDN1 FGF2 NPPA PRKAR1A REN
11 renal/urinary system MP:0005367 9.85 CASR CLCN5 CSF2 EDN1 NAGLU NPPA
12 reproductive system MP:0005389 9.61 ADCY10 BMP6 CSF2 FGF2 NR1I3 PRKAR1A
13 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 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Not Applicable 7440-70-2 271
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
3
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
4 Hormones Phase 4,Phase 2,Phase 3,Not Applicable
5 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3
6 Calcium, Dietary Phase 4,Phase 2,Phase 3,Not Applicable
7 Ergocalciferols Phase 4
8 Vitamins Phase 4
9 Nutrients Phase 4
10 Vitamin D2 Phase 4
11 Trace Elements Phase 4
12 Micronutrients Phase 4
13 Calciferol Phase 4
14
Potassium Citrate Approved, Investigational, Vet_approved Not Applicable
15
Acetazolamide Approved, Vet_approved Not Applicable 59-66-5 1986
16
Sodium Citrate Approved, Investigational Not Applicable 68-04-2
17
Spironolactone Approved Not Applicable 1952-01-7, 52-01-7 5833
18
Hydrochlorothiazide Approved, Vet_approved Not Applicable 58-93-5 3639
19
Citric Acid Approved, Nutraceutical, Vet_approved Not Applicable 77-92-9 311
20 Anticonvulsants Not Applicable
21 Natriuretic Agents Not Applicable
22 Chelating Agents Not Applicable
23 diuretics Not Applicable
24 Respiratory System Agents Not Applicable
25 Anticoagulants Not Applicable
26 Carbonic Anhydrase Inhibitors Not Applicable
27 Citrate Not Applicable
28 Expectorants Not Applicable
29 Diuretics, Potassium Sparing Not Applicable
30 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
31 Mineralocorticoids Not Applicable
32 Sodium Chloride Symporter Inhibitors Not Applicable
33 Mineralocorticoid Receptor Antagonists Not Applicable
34 Hormone Antagonists Not Applicable
35 Antihypertensive Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vitamin D Repletion in Stone Formers With Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
2 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3
3 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009 Not Applicable
4 Effects of Potassium Citrate in Urine of Children With Elevated Calcium in Urine and Kidney Stones Completed NCT00120731 Not Applicable Potassium Citrate;Acetazolamide
5 Spironolactone to Decrease Potassium Wasting in Hypercalciurics on Thiazides Diuretics Completed NCT00276289 Not Applicable Spironolactone
6 Metabolic Assessment of Aging Men With Urinary Lithiasis Completed NCT01246531
7 Comparison of the Impact of Diet vs Thiazide in BMD in Children With Idiopathic Hypercalciuria Recruiting NCT03951558 Not Applicable 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:

42
Bone, Kidney, Testes, Monocytes, Lung, Liver, Heart

Publications for Idiopathic Hypercalciuria

Articles related to Idiopathic Hypercalciuria:

(show top 50) (show all 273)
# Title Authors Year
1
Role of Calcium to Citrate Ratio in Predicting Stone Formation in Idiopathic Hypercalciuria Children (2-12 Years Old). ( 30322785 )
2019
2
Bone resorption in dogs with calcium oxalate urolithiasis and idiopathic hypercalciuria. ( 30641472 )
2019
3
Idiopathic hypercalciuria: Can we prevent stones and protect bones? ( 29328898 )
2018
4
Assessment of Cross-correlations Between Selected Macromolecules in Urine of Children with Idiopathic Hypercalciuria. ( 29353465 )
2018
5
Does idiopathic hypercalciuria affect bone metabolism during childhood? A prospective case-control study. ( 30043116 )
2018
6
A randomized controlled trial of the effects of hydrochlorothiazide on overactive bladder and idiopathic hypercalciuria. ( 28540894 )
2017
7
Prevalence of idiopathic hypercalciuria in children with urinary system related symptoms attending a pediatric hospital in Bandar Abbas in 2014. ( 29038707 )
2017
8
Medullary nephrocalcinosis in idiopathic hypercalciuria. ( 29152298 )
2017
9
Idiopathic hypercalciuria and formation of calcium renal stones. ( 27452364 )
2016
10
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. ( 25394514 )
2015
11
Therapeutic Efficacy of Hydrochlorothiazide in Primary Monosymptomatic Nocturnal Enuresis in Boys With Idiopathic Hypercalciuria. ( 26543832 )
2015
12
BONE MINERAL DENSITY IN CHILDREN WITH IDIOPATHIC HYPERCALCIURIA. ( 26958681 )
2015
13
Dietary interventions for preventing complications in idiopathic hypercalciuria. ( 24519664 )
2014
14
Re: evidence for increased renal tubule and parathyroid gland sensitivity to serum calcium in human idiopathic hypercalciuria. ( 24522042 )
2014
15
Idiopathic hypercalciuria in children with urinary tract infection. ( 25192518 )
2014
16
Idiopathic hypercalciuria in children with urinary tract infection. ( 25192523 )
2014
17
Reduced bone mass in 7-year-old children with asymptomatic idiopathic hypercalciuria. ( 25300274 )
2014
18
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. ( 25763161 )
2014
19
Does hydrochlorothiazide prevent recurrent urinary tract infection in children with idiopathic hypercalciuria? ( 23131530 )
2013
20
The association between urinary tract infection and idiopathic hypercalciuria in children. ( 23394064 )
2013
21
Hyperinsulinemia and urinary calcium excretion in calcium stone formers with idiopathic hypercalciuria. ( 23553859 )
2013
22
Treatment of idiopathic hypercalciuria and its impact on associated diseases. ( 23568066 )
2013
23
Role of proximal tubule in the hypocalciuric response to thiazide of patients with idiopathic hypercalciuria. ( 23720347 )
2013
24
Evidence for increased renal tubule and parathyroid gland sensitivity to serum calcium in human idiopathic hypercalciuria. ( 23863465 )
2013
25
Bone disease in pediatric idiopathic hypercalciuria. ( 24175242 )
2012
26
Longitudinal study of bone mineral density in children with idiopathic hypercalciuria. ( 21779854 )
2012
27
Effect of thiazides on bone mineral density in children with idiopathic hypercalciuria. ( 21874585 )
2012
28
Low-dose or high-dose hydrochlorothiazide in idiopathic hypercalciuria among children? Re: role of high-dose hydrochlorothiazide in idiopathic hypercalciuric urolithiasis of childhood. ( 22218125 )
2012
29
Plasma and urinary levels of cytokines in patients with idiopathic hypercalciuria. ( 22223141 )
2012
30
Re: effect of thiazides on bone mineral density in children with idiopathic hypercalciuria. ( 22325544 )
2012
31
Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred. ( 22387237 )
2012
32
Idiopathic hypercalciuria and bone health. ( 23054957 )
2012
33
Bone disease and cytokines in idiopathic hypercalciuria: a review. ( 21932573 )
2011
34
Determinants of osteopenia in male renal-stone-disease patients with idiopathic hypercalciuria. ( 21441130 )
2011
35
Dietary modifications alone do not improve bone mineral density in children with idiopathic hypercalciuria. ( 22000552 )
2011
36
Effect of hydrochlorothiazide on reducing recurrent abdominal pain in girls with idiopathic hypercalciuria. ( 22247730 )
2011
37
Neurofibromatosis type 1 with idiopathic hypercalciuria, nephrolithiasis and horseshoe kidney. ( 20182752 )
2010
38
Effects of a low-salt diet on idiopathic hypercalciuria in calcium-oxalate stone formers: a 3-mo randomized controlled trial. ( 20042524 )
2010
39
Idiopathic hypercalciuria in children with vesico ureteral reflux and recurrent urinary tract infection. ( 20535695 )
2010
40
Urinary lithiasis and idiopathic hypercalciuria: the importance of dietary intake evaluation. ( 21044372 )
2010
41
Prevalence and factors associated with idiopathic hypercalciuria in HIV patients on combination antiretroviral therapy. ( 21297093 )
2010
42
Bisphosphonates in the management of idiopathic hypercalciuria associated with osteoporosis: a new trick from an old drug. ( 22870435 )
2010
43
Vitamin D substrate-product relationship in idiopathic hypercalciuria. ( 19013526 )
2009
44
Pharmacological interventions for preventing complications in idiopathic hypercalciuria. ( 19160242 )
2009
45
Clinical manifestations of pediatric idiopathic hypercalciuria. ( 19482624 )
2009
46
Treatment strategies for pediatric idiopathic hypercalciuria. ( 19482647 )
2009
47
Does idiopathic hypercalciuria trigger calcium-sensing receptor-mediated protection from urinary supersaturation? ( 19578005 )
2009
48
Idiopathic hypercalciuria and calcium renal stone disease: our cases. ( 22461254 )
2009
49
Bone disease and idiopathic hypercalciuria. ( 18359394 )
2008
50
New insights into the pathogenesis of idiopathic hypercalciuria. ( 18359393 )
2008

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 extracellular region GO:0005576 9.65 BGLAP BMP6 CSF2 EDN1 FGF2 IL1B
2 vesicle GO:0031982 9.46 BGLAP BMP6 IL1B SLC34A3
3 apical part of cell GO:0045177 9.43 ADCY10 CLCN5 REN
4 basal part of cell GO:0045178 9.32 ADCY10 EDN1
5 extracellular space GO:0005615 9.32 BGLAP BMP6 CSF2 EDN1 FGF2 IL1B

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.99 BMP6 CSF2 IL1B SLPI TNFSF11
2 positive regulation of gene expression GO:0010628 9.93 CASR CSF2 IL1B TNFSF11 VDR
3 cytokine-mediated signaling pathway GO:0019221 9.91 CSF2 FGF2 IL1B TNFSF11
4 response to drug GO:0042493 9.81 BGLAP EDN1 REN
5 positive regulation of DNA-binding transcription factor activity GO:0051091 9.8 EDN1 IL1B TNFSF11
6 cellular response to mechanical stimulus GO:0071260 9.75 BMP6 IL1B NPPA
7 cellular response to drug GO:0035690 9.73 EDN1 IL1B REN
8 response to lipopolysaccharide GO:0032496 9.73 EDN1 IL1B REN SLPI
9 regulation of blood pressure GO:0008217 9.72 EDN1 NPPA REN
10 positive regulation of MAP kinase activity GO:0043406 9.7 EDN1 FGF2 TNFSF11
11 regulation of blood vessel size GO:0050880 9.63 EDN1 NPPA
12 positive regulation of cell proliferation GO:0008284 9.63 BMP6 CASR CSF2 EDN1 FGF2 IL1B
13 response to muscle stretch GO:0035994 9.62 EDN1 NPPA
14 skeletal system development GO:0001501 9.62 BGLAP BMP6 EDN1 VDR
15 regulation of osteoclast differentiation GO:0045670 9.61 BGLAP TNFSF11
16 cellular response to vitamin D GO:0071305 9.58 BGLAP CASR
17 response to glucocorticoid GO:0051384 9.57 BGLAP BMP6
18 response to activity GO:0014823 9.54 BGLAP BMP6 EDN1
19 paracrine signaling GO:0038001 9.49 FGF2 TNFSF11
20 positive regulation of prostaglandin secretion GO:0032308 9.48 EDN1 IL1B
21 epithelial fluid transport GO:0042045 9.46 CSF2 EDN1
22 response to dexamethasone GO:0071548 9.3 EDN1
23 histamine secretion GO:0001821 9.26 CSF2 EDN1
24 ossification GO:0001503 9.26 BGLAP BMP6 CASR TNFSF11
25 regulation of signaling receptor activity GO:0010469 9.17 BMP6 CSF2 EDN1 FGF2 IL1B NPPA
26 response to ozone GO:0010193 9.1 EDN1
27 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 BMP6 EDN1 FGF2 IL1B NR1I3 TNFSF11

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 FGF2 NR1I3 VDR
2 cytokine activity GO:0005125 9.1 BMP6 CSF2 EDN1 FGF2 IL1B TNFSF11

Sources for Idiopathic Hypercalciuria

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
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