MCID: IDP073
MIFTS: 49

Idiopathic Hypercalciuria

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Idiopathic Hypercalciuria

MalaCards integrated aliases for Idiopathic Hypercalciuria:

Name: Idiopathic Hypercalciuria 59 73

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Orphanet 59 ORPHA2197
UMLS via Orphanet 74 C0543800
ICD10 via Orphanet 34 E83.5
UMLS 73 C0543800

Summaries for Idiopathic Hypercalciuria

MalaCards based summary : Idiopathic Hypercalciuria is related to hypercalciuria, absorptive, 2 and hyperparathyroidism. 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 Ergocalciferol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and kidney, and related phenotypes are osteopenia and osteoporosis

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 70)
# Related Disease Score Top Affiliating Genes
1 hypercalciuria, absorptive, 2 32.3 ADCY10 CASR CLCN5 SLC34A3 VDR
2 hyperparathyroidism 30.8 BGLAP CASR PRKAR1A VDR
3 secondary hyperparathyroidism of renal origin 30.4 BGLAP CASR VDR
4 bone resorption disease 30.4 BGLAP TNFSF11 VDR
5 nephrolithiasis 30.2 ADCY10 CASR CLCN5 SLC34A3 TRPV5 VDR
6 primary hyperparathyroidism 30.1 BGLAP CASR NR1I3 PRKAR1A VDR
7 nephrolithiasis, calcium oxalate 30.0 CASR CLCN5 NAGLU VDR
8 nephrocalcinosis 29.9 CASR CLCN5 SLC34A3
9 bone disease 29.3 BGLAP CASR IL1B SLC34A3 SLPI TNFSF11
10 osteoporosis 29.0 ADCY10 BGLAP CASR IL1B PRKAR1A SLPI
11 hypomagnesemia 5, renal, with or without ocular involvement 11.5
12 acute cystitis 10.3
13 renal osteodystrophy 10.2 BGLAP CASR VDR
14 osteomalacia 10.2 BGLAP CASR VDR
15 parathyroid adenoma 10.2 BGLAP CASR VDR
16 autoimmune hypoparathyroidism 10.2 CASR PRKAR1A
17 pulmonary hypertension, primary, 1 10.2 BMP6 EDN1 NPPA
18 malignant hypertensive renal disease 10.2 EDN1 REN
19 malignant renovascular hypertension 10.2 EDN1 REN
20 xanthinuria, type i 10.2 CASR NAGLU VDR
21 hypervitaminosis d 10.2 TRPV5 VDR
22 hypercalcemia, infantile, 1 10.2 CASR PRKAR1A VDR
23 hypoaldosteronism 10.2 NPPA REN
24 hypocalcemia, autosomal dominant 1 10.2 CASR PRKAR1A VDR
25 postural hypotension 10.1 NPPA REN
26 bartter disease 10.1 CASR CLCN5 REN
27 malignant hypertension 10.1 EDN1 NPPA REN
28 hepatorenal syndrome 10.1 EDN1 NPPA REN
29 malignant secondary hypertension 10.1 EDN1 REN
30 pericardial effusion 10.1 FGF2 NPPA REN
31 renovascular hypertension 10.1 EDN1 NPPA REN
32 hyperparathyroidism, neonatal severe 10.1 CASR NR1I3 PRKAR1A
33 bone remodeling disease 10.1 BGLAP TNFSF11 VDR
34 phosphorus metabolism disease 10.1 CASR SLC34A3 VDR
35 perinephritis 10.1 EDN1 REN
36 hypophosphatemic rickets, x-linked recessive 10.1 CLCN5 SLC34A3 VDR
37 congenital hepatic fibrosis 10.1 REN SLC17A5
38 multiple endocrine neoplasia, type i 10.1 CASR FGF2 PRKAR1A
39 obstructive jaundice 10.1 EDN1 REN SLC17A5
40 hypophosphatemia 10.1 BGLAP CLCN5 SLC34A3
41 parathyroid gland disease 10.0 ADCY10 BGLAP CASR VDR
42 dupuytren contracture 10.0 BMP6 FGF2 IL1B
43 urinary system disease 10.0 EDN1 NAGLU REN
44 aortic valve disease 2 10.0 NPPA REN TNFSF11
45 rickets 10.0 BGLAP CLCN5 SLC34A3 VDR
46 congestive heart failure 10.0 EDN1 NPPA REN
47 liver cirrhosis 10.0 EDN1 NPPA REN SLC17A5
48 periodontitis, chronic 10.0 IL1B TNFSF11
49 burns 10.0 CSF2 IL1B
50 vascular disease 10.0 BMP6 EDN1 FGF2 REN

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:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
2 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
3 hypercalciuria 59 32 obligate (100%) Obligate (100%) HP:0002150
4 renal calcium wasting 59 32 obligate (100%) Obligate (100%) HP:0012637
5 calcium oxalate nephrolithiasis 59 32 frequent (33%) Frequent (79-30%) HP:0008672
6 parathormone-independent increased renal tubular calcium reabsorption 59 Excluded (0%)
7 abnormal concentration of calcium in blood 59 Excluded (0%)

MGI Mouse Phenotypes related to Idiopathic Hypercalciuria:

46 (show all 12)
# 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 behavior/neurological MP:0005386 10.21 CASR CSF2 FGF2 NAGLU PRKAR1A REN
5 cardiovascular system MP:0005385 10.19 ADCY10 CSF2 EDN1 FGF2 IL1B NAGLU
6 hematopoietic system MP:0005397 10.18 CASR CSF2 FGF2 IL1B NAGLU NPPA
7 mortality/aging MP:0010768 10.13 CASR CSF2 EDN1 FGF2 IL1B NAGLU
8 craniofacial MP:0005382 10.06 CLCN5 CSF2 EDN1 IL1B NAGLU PRKAR1A
9 muscle MP:0005369 9.86 CASR EDN1 FGF2 NPPA PRKAR1A REN
10 renal/urinary system MP:0005367 9.85 CASR CLCN5 CSF2 EDN1 NAGLU NPPA
11 reproductive system MP:0005389 9.61 ADCY10 BMP6 CSF2 FGF2 NR1I3 PRKAR1A
12 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 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
3 Vitamin D2 Phase 4
4 Ergocalciferols Phase 4
5 Trace Elements Phase 4
6 Micronutrients Phase 4
7 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3
8 Vitamins Phase 4
9 Calciferol Phase 4
10 Calcium, Dietary Phase 4,Phase 2,Phase 3,Not Applicable
11
Potassium Citrate Approved, Investigational, Vet_approved Not Applicable
12
Acetazolamide Approved, Vet_approved Not Applicable 59-66-5 1986
13
Spironolactone Approved Not Applicable 52-01-7, 1952-01-7 5833
14
Citric Acid Approved, Nutraceutical, Vet_approved Not Applicable 77-92-9 311
15 diuretics Not Applicable
16 Natriuretic Agents Not Applicable
17 Expectorants Not Applicable
18 Anticonvulsants Not Applicable
19 Anticoagulants Not Applicable
20 Carbonic Anhydrase Inhibitors Not Applicable
21 Chelating Agents Not Applicable
22 Citrate Not Applicable
23 Respiratory System Agents Not Applicable
24 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
25 Diuretics, Potassium Sparing Not Applicable
26 Mineralocorticoids Not Applicable
27 Sodium Chloride Symporter Inhibitors Not Applicable
28 Hormone Antagonists Not Applicable
29 Hormones Not Applicable
30 Mineralocorticoid Receptor Antagonists 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

Search NIH Clinical Center for Idiopathic Hypercalciuria

Genetic Tests for Idiopathic Hypercalciuria

Anatomical Context for Idiopathic Hypercalciuria

MalaCards organs/tissues related to Idiopathic Hypercalciuria:

41
Bone, Testes, Kidney, Lung, Brain, Liver, Heart

Publications for Idiopathic Hypercalciuria

Articles related to Idiopathic Hypercalciuria:

(show top 50) (show all 271)
# Title Authors Year
1
Assessment of Cross-correlations Between Selected Macromolecules in Urine of Children with Idiopathic Hypercalciuria. ( 29353465 )
2018
2
Idiopathic hypercalciuria: Can we prevent stones and protect bones? ( 29328898 )
2018
3
Does idiopathic hypercalciuria affect bone metabolism during childhood? A prospective case-control study. ( 30043116 )
2018
4
Role of Calcium to Citrate Ratio in Predicting Stone Formation in Idiopathic Hypercalciuria Children (2-12 Years Old). ( 30322785 )
2018
5
Prevalence of idiopathic hypercalciuria in children with urinary system related symptoms attending a pediatric hospital in Bandar Abbas in 2014. ( 29038707 )
2017
6
A randomized controlled trial of the effects of hydrochlorothiazide on overactive bladder and idiopathic hypercalciuria. ( 28540894 )
2017
7
Medullary nephrocalcinosis in idiopathic hypercalciuria. ( 29152298 )
2017
8
Idiopathic hypercalciuria and formation of calcium renal stones. ( 27452364 )
2016
9
Calcium ions promote primary renal epithelial cell differentiation into cells with bone-associated phenotypes via transforming growth factor-I^1-induced epithelial-mesenchymal transition in idiopathic hypercalciuria patients. ( 25394514 )
2015
10
Therapeutic Efficacy of Hydrochlorothiazide in Primary Monosymptomatic Nocturnal Enuresis in Boys With Idiopathic Hypercalciuria. ( 26543832 )
2015
11
BONE MINERAL DENSITY IN CHILDREN WITH IDIOPATHIC HYPERCALCIURIA. ( 26958681 )
2015
12
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
13
Idiopathic hypercalciuria in children with urinary tract infection. ( 25192523 )
2014
14
Re: evidence for increased renal tubule and parathyroid gland sensitivity to serum calcium in human idiopathic hypercalciuria. ( 24522042 )
2014
15
Dietary interventions for preventing complications in idiopathic hypercalciuria. ( 24519664 )
2014
16
Idiopathic hypercalciuria in children with urinary tract infection. ( 25192518 )
2014
17
Reduced bone mass in 7-year-old children with asymptomatic idiopathic hypercalciuria. ( 25300274 )
2014
18
Does hydrochlorothiazide prevent recurrent urinary tract infection in children with idiopathic hypercalciuria? ( 23131530 )
2013
19
The association between urinary tract infection and idiopathic hypercalciuria in children. ( 23394064 )
2013
20
Role of proximal tubule in the hypocalciuric response to thiazide of patients with idiopathic hypercalciuria. ( 23720347 )
2013
21
Treatment of idiopathic hypercalciuria and its impact on associated diseases. ( 23568066 )
2013
22
Hyperinsulinemia and urinary calcium excretion in calcium stone formers with idiopathic hypercalciuria. ( 23553859 )
2013
23
Evidence for increased renal tubule and parathyroid gland sensitivity to serum calcium in human idiopathic hypercalciuria. ( 23863465 )
2013
24
Bone disease in pediatric idiopathic hypercalciuria. ( 24175242 )
2012
25
Plasma and urinary levels of cytokines in patients with idiopathic hypercalciuria. ( 22223141 )
2012
26
Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred. ( 22387237 )
2012
27
Re: effect of thiazides on bone mineral density in children with idiopathic hypercalciuria. ( 22325544 )
2012
28
Idiopathic hypercalciuria and bone health. ( 23054957 )
2012
29
Longitudinal study of bone mineral density in children with idiopathic hypercalciuria. ( 21779854 )
2012
30
Effect of thiazides on bone mineral density in children with idiopathic hypercalciuria. ( 21874585 )
2012
31
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
32
Effect of hydrochlorothiazide on reducing recurrent abdominal pain in girls with idiopathic hypercalciuria. ( 22247730 )
2011
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
Neurofibromatosis type 1 with idiopathic hypercalciuria, nephrolithiasis and horseshoe kidney. ( 20182752 )
2010
37
Prevalence and factors associated with idiopathic hypercalciuria in HIV patients on combination antiretroviral therapy. ( 21297093 )
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
Bisphosphonates in the management of idiopathic hypercalciuria associated with osteoporosis: a new trick from an old drug. ( 22870435 )
2010
42
Vitamin D substrate-product relationship in idiopathic hypercalciuria. ( 19013526 )
2009
43
Pharmacological interventions for preventing complications in idiopathic hypercalciuria. ( 19160242 )
2009
44
Clinical manifestations of pediatric idiopathic hypercalciuria. ( 19482624 )
2009
45
Treatment strategies for pediatric idiopathic hypercalciuria. ( 19482647 )
2009
46
Does idiopathic hypercalciuria trigger calcium-sensing receptor-mediated protection from urinary supersaturation? ( 19578005 )
2009
47
Idiopathic hypercalciuria and calcium renal stone disease: our cases. ( 22461254 )
2009
48
Bone disease and idiopathic hypercalciuria. ( 18359394 )
2008
49
RANKL is a mediator of bone resorption in idiopathic hypercalciuria. ( 18480302 )
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 response to drug GO:0042493 9.93 BGLAP EDN1 IL1B REN
3 positive regulation of gene expression GO:0010628 9.93 CASR CSF2 IL1B TNFSF11 VDR
4 cytokine-mediated signaling pathway GO:0019221 9.91 CSF2 FGF2 IL1B TNFSF11
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 response to glucocorticoid GO:0051384 9.74 BGLAP BMP6 IL1B
8 cellular response to drug GO:0035690 9.73 EDN1 IL1B REN
9 response to lipopolysaccharide GO:0032496 9.73 EDN1 IL1B REN SLPI
10 regulation of blood pressure GO:0008217 9.72 EDN1 NPPA REN
11 positive regulation of MAP kinase activity GO:0043406 9.7 EDN1 FGF2 TNFSF11
12 regulation of blood vessel size GO:0050880 9.63 EDN1 NPPA
13 positive regulation of cell proliferation GO:0008284 9.63 BMP6 CASR CSF2 EDN1 FGF2 IL1B
14 response to muscle stretch GO:0035994 9.62 EDN1 NPPA
15 skeletal system development GO:0001501 9.62 BGLAP BMP6 EDN1 VDR
16 regulation of osteoclast differentiation GO:0045670 9.61 BGLAP TNFSF11
17 response to dexamethasone GO:0071548 9.6 EDN1 IL1B
18 cellular response to vitamin D GO:0071305 9.58 BGLAP CASR
19 response to activity GO:0014823 9.54 BGLAP BMP6 EDN1
20 paracrine signaling GO:0038001 9.49 FGF2 TNFSF11
21 positive regulation of prostaglandin secretion GO:0032308 9.48 EDN1 IL1B
22 epithelial fluid transport GO:0042045 9.46 CSF2 EDN1
23 response to ozone GO:0010193 9.4 EDN1 IL1B
24 histamine secretion GO:0001821 9.26 CSF2 EDN1
25 ossification GO:0001503 9.26 BGLAP BMP6 CASR TNFSF11
26 regulation of signaling receptor activity GO:0010469 9.17 BMP6 CSF2 EDN1 FGF2 IL1B NPPA
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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