MCID: IDP073
MIFTS: 45

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 nephrolithiasis. 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 Vitamin D and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and monocytes, 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 70)
# Related Disease Score Top Affiliating Genes
1 hypercalciuria, absorptive, 2 31.7 ADCY10 CASR CLCN5 SLC34A3 VDR
2 nephrolithiasis 30.5 CASR CLCN5 SLC34A3
3 bone disease 28.1 BGLAP CASR IL1B SLC34A3 SLPI TNFSF11
4 hypomagnesemia 5, renal, with ocular involvement 11.0
5 autoimmune hypoparathyroidism 10.8 CASR PRKAR1A
6 phosphorus metabolism disease 10.8 CASR SLC34A3 VDR
7 secondary hyperparathyroidism of renal origin 10.7 BGLAP CASR VDR
8 osteopetrosis, autosomal dominant 2 10.7 BGLAP TNFSF11
9 renal osteodystrophy 10.7 BGLAP CASR VDR
10 osteomalacia 10.7 BGLAP CASR VDR
11 hypercalcemia, infantile, 1 10.7 CASR PRKAR1A VDR
12 hypervitaminosis d 10.7 TRPV5 VDR
13 parathyroid adenoma 10.7 BGLAP CASR VDR
14 hypocalcemia, autosomal dominant 1 10.7 CASR PRKAR1A VDR
15 bone resorption disease 10.7 BGLAP TNFSF11 VDR
16 bone remodeling disease 10.7 BGLAP TNFSF11 VDR
17 hyperparathyroidism, neonatal severe 10.6 CASR NR1I3 PRKAR1A
18 xanthinuria, type i 10.6 CASR NAGLU VDR
19 periodontitis, chronic 10.5 IL1B TNFSF11
20 hypoaldosteronism 10.5 NPPA REN
21 hypophosphatemic rickets, x-linked recessive 10.4 CLCN5 SLC34A3 VDR
22 hyperparathyroidism 10.4 BGLAP CASR PRKAR1A VDR
23 mouth disease 10.4 IL1B TNFSF11 VDR
24 postural hypotension 10.4 NPPA REN
25 bone inflammation disease 10.4 BGLAP IL1B TNFSF11
26 hypophosphatemia 10.3 BGLAP CLCN5 SLC34A3
27 periodontitis 10.3 BGLAP IL1B TNFSF11
28 multiple endocrine neoplasia, type i 10.3 CASR FGF2 PRKAR1A
29 dupuytren contracture 10.3 BMP6 FGF2 IL1B
30 renal artery disease 10.3 NPPA REN
31 pericardial effusion 10.2 FGF2 NPPA REN
32 aortic valve disease 2 10.2 NPPA REN TNFSF11
33 rickets 10.2 BGLAP CLCN5 SLC34A3 VDR
34 hypertension, diastolic 10.2 NPPA REN
35 primary hyperparathyroidism 10.2 BGLAP CASR NR1I3 PRKAR1A VDR
36 parathyroid gland disease 10.2 ADCY10 BGLAP CASR VDR
37 nephrolithiasis, calcium oxalate 10.1 CASR CLCN5 NAGLU VDR
38 bartter disease 10.1 CASR CLCN5 REN
39 microvascular complications of diabetes 3 10.1 BMP6 NAGLU REN
40 malignant renovascular hypertension 10.1 EDN1 REN
41 congenital hepatic fibrosis 10.0 REN SLC17A5
42 nephrocalcinosis 10.0
43 malignant secondary hypertension 9.9 EDN1 REN
44 burns 9.9 CSF2 IL1B
45 malignant hypertension 9.9 EDN1 NPPA REN
46 conn's syndrome 9.9 NPPA PRKAR1A REN
47 renovascular hypertension 9.9 EDN1 NPPA REN
48 perinephritis 9.8 EDN1 REN
49 uremic pruritus 9.8 IL1B SLC17A5
50 neurofibromatosis, type i 9.8

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 hypercalciuria 59 32 obligate (100%) Obligate (100%) HP:0002150
2 renal calcium wasting 59 32 obligate (100%) Obligate (100%) HP:0012637
3 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
4 calcium oxalate nephrolithiasis 59 32 frequent (33%) Frequent (79-30%) HP:0008672
5 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
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 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 CSF2 FGF2 IL1B NAGLU NPPA PRKAR1A
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 VDR CASR EDN1 FGF2 NPPA PRKAR1A
9 renal/urinary system MP:0005367 9.85 NAGLU NPPA REN SLC34A3 TRPV5 VDR
10 reproductive system MP:0005389 9.61 REN TNFSF11 VDR PRKAR1A ADCY10 BMP6
11 skeleton MP:0005390 9.44 EDN1 FGF2 IL1B NAGLU PRKAR1A SLC34A3

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
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
2
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
3 Micronutrients Phase 4
4 Trace Elements Phase 4
5 Ergocalciferols Phase 4
6 Vitamins Phase 4
7 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3
8 Calcium, Dietary Phase 4,Phase 2,Phase 3,Not Applicable
9 Vitamin D2 Nutraceutical Phase 4
10 Calciferol Nutraceutical Phase 4
11
Spironolactone Approved Not Applicable 1952-01-7, 52-01-7 5833
12
Acetazolamide Approved, Vet_approved Not Applicable 59-66-5 1986
13
Potassium Citrate Approved, Investigational, Vet_approved Not Applicable
14
Citric Acid Approved, Nutraceutical, Vet_approved Not Applicable 77-92-9 311
15 diuretics Not Applicable
16 Respiratory System Agents Not Applicable
17 Chelating Agents Not Applicable
18 Mineralocorticoid Receptor Antagonists Not Applicable
19 Mineralocorticoids Not Applicable
20 Natriuretic Agents Not Applicable
21 Sodium Chloride Symporter Inhibitors Not Applicable
22 Hormone Antagonists Not Applicable
23 Hormones Not Applicable
24 Diuretics, Potassium Sparing Not Applicable
25 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
26 Anticoagulants Not Applicable
27 Expectorants Not Applicable
28 Anticonvulsants Not Applicable
29 Carbonic Anhydrase Inhibitors Not Applicable
30 Citrate Nutraceutical 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, Kidney, Monocytes

Publications for Idiopathic Hypercalciuria

Articles related to Idiopathic Hypercalciuria:

(show top 50) (show all 54)
# 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
Prevalence of idiopathic hypercalciuria in children with urinary system related symptoms attending a pediatric hospital in Bandar Abbas in 2014. ( 29038707 )
2017
4
A randomized controlled trial of the effects of hydrochlorothiazide on overactive bladder and idiopathic hypercalciuria. ( 28540894 )
2017
5
Medullary nephrocalcinosis in idiopathic hypercalciuria. ( 29152298 )
2017
6
Idiopathic hypercalciuria and formation of calcium renal stones. ( 27452364 )
2016
7
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
8
Therapeutic Efficacy of Hydrochlorothiazide in Primary Monosymptomatic Nocturnal Enuresis in Boys With Idiopathic Hypercalciuria. ( 26543832 )
2015
9
BONE MINERAL DENSITY IN CHILDREN WITH IDIOPATHIC HYPERCALCIURIA. ( 26958681 )
2015
10
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
11
Idiopathic hypercalciuria in children with urinary tract infection. ( 25192523 )
2014
12
Re: evidence for increased renal tubule and parathyroid gland sensitivity to serum calcium in human idiopathic hypercalciuria. ( 24522042 )
2014
13
Dietary interventions for preventing complications in idiopathic hypercalciuria. ( 24519664 )
2014
14
Idiopathic hypercalciuria in children with urinary tract infection. ( 25192518 )
2014
15
Reduced bone mass in 7-year-old children with asymptomatic idiopathic hypercalciuria. ( 25300274 )
2014
16
Does hydrochlorothiazide prevent recurrent urinary tract infection in children with idiopathic hypercalciuria? ( 23131530 )
2013
17
The association between urinary tract infection and idiopathic hypercalciuria in children. ( 23394064 )
2013
18
Role of proximal tubule in the hypocalciuric response to thiazide of patients with idiopathic hypercalciuria. ( 23720347 )
2013
19
Treatment of idiopathic hypercalciuria and its impact on associated diseases. ( 23568066 )
2013
20
Hyperinsulinemia and urinary calcium excretion in calcium stone formers with idiopathic hypercalciuria. ( 23553859 )
2013
21
Evidence for increased renal tubule and parathyroid gland sensitivity to serum calcium in human idiopathic hypercalciuria. ( 23863465 )
2013
22
Bone disease in pediatric idiopathic hypercalciuria. ( 24175242 )
2012
23
Plasma and urinary levels of cytokines in patients with idiopathic hypercalciuria. ( 22223141 )
2012
24
Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred. ( 22387237 )
2012
25
Re: effect of thiazides on bone mineral density in children with idiopathic hypercalciuria. ( 22325544 )
2012
26
Idiopathic hypercalciuria and bone health. ( 23054957 )
2012
27
Effect of hydrochlorothiazide on reducing recurrent abdominal pain in girls with idiopathic hypercalciuria. ( 22247730 )
2011
28
Neurofibromatosis type 1 with idiopathic hypercalciuria, nephrolithiasis and horseshoe kidney. ( 20182752 )
2010
29
Bone disease and idiopathic hypercalciuria. ( 18359394 )
2008
30
RANKL is a mediator of bone resorption in idiopathic hypercalciuria. ( 18480302 )
2008
31
Association between vitamin D receptor gene polymorphisms and fasting idiopathic hypercalciuria in recurrent stone-forming patients. ( 15491743 )
2004
32
Peripheral blood monocyte vitamin D receptor levels are elevated in patients with idiopathic hypercalciuria. ( 15472188 )
2004
33
Childhood idiopathic hypercalciuria--clinical significance of renal calyceal microlithiasis and risk of calcium nephrolithiasis. ( 15764255 )
2004
34
Urinary excretion of endothelin-1 in children with absorptive idiopathic hypercalciuria. ( 14523636 )
2003
35
Renal phosphate leak in patients with idiopathic hypercalciuria and calcium nephrolithiasis. ( 13680023 )
2003
36
Epithelial Ca(2+) channel (ECAC1) in autosomal dominant idiopathic hypercalciuria. ( 12198212 )
2002
37
[Vitamin D receptor polymorphisms and susceptibility to developing urinary infection in children diagnosed with idiopathic hypercalciuria]. ( 12369133 )
2002
38
No evidence for point mutations of the calcium-sensing receptor in familial idiopathic hypercalciuria. ( 11733622 )
2001
39
Atrial natriuretic peptide in children with idiopathic hypercalciuria. ( 10955944 )
2000
40
Evaluation of the calcium-sensing receptor gene in idiopathic hypercalciuria and calcium nephrolithiasis. ( 10886547 )
2000
41
Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria. ( 10620204 )
2000
42
Nephrocalcinosis in three siblings with idiopathic hypercalciuria. ( 9543376 )
1998
43
Investigation of relationship between idiopathic hypercalciuria and urinary enzyme activities. ( 11229247 )
1998
44
Bone mineral density in pediatric patients with idiopathic hypercalciuria. ( 9323283 )
1997
45
Low bone mineral density and peripheral blood monocyte activation profile in calcium stone formers with idiopathic hypercalciuria. ( 8989228 )
1997
46
Inappropriate phosphate excretion in idiopathic hypercalciuria: the key to a common cause and future treatment? ( 8944605 )
1996
47
[Urinary excretion of sodium and magnesium in idiopathic hypercalciuria]. ( 1821917 )
1991
48
Nephrocalcinosis and idiopathic hypercalciuria. ( 1777901 )
1991
49
Increased monocyte interleukin-1 activity and decreased vertebral bone density in patients with fasting idiopathic hypercalciuria. ( 2370292 )
1990
50
Atrial natriuretic factor levels in renal stone patients with idiopathic hypercalciuria and in healthy controls: the effect of an oral calcium load. ( 2137191 )
1990

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 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.98 BMP6 EDN1 FGF2 IL1B NR1I3 TNFSF11
2 immune response GO:0006955 9.96 BMP6 CSF2 IL1B SLPI TNFSF11
3 response to lipopolysaccharide GO:0032496 9.78 EDN1 IL1B REN SLPI
4 cellular response to mechanical stimulus GO:0071260 9.71 BMP6 IL1B NPPA
5 regulation of blood pressure GO:0008217 9.7 EDN1 NPPA REN
6 cellular response to drug GO:0035690 9.69 EDN1 IL1B REN
7 positive regulation of MAP kinase activity GO:0043406 9.67 EDN1 FGF2 TNFSF11
8 skeletal system development GO:0001501 9.67 BGLAP BMP6 EDN1 VDR
9 positive regulation of cell proliferation GO:0008284 9.63 BMP6 CASR CSF2 EDN1 FGF2 IL1B
10 regulation of osteoclast differentiation GO:0045670 9.58 BGLAP TNFSF11
11 response to muscle stretch GO:0035994 9.57 EDN1 NPPA
12 cellular response to vitamin D GO:0071305 9.55 BGLAP CASR
13 response to activity GO:0014823 9.5 BGLAP BMP6 EDN1
14 positive regulation of prostaglandin secretion GO:0032308 9.46 EDN1 IL1B
15 epithelial fluid transport GO:0042045 9.4 CSF2 EDN1
16 histamine secretion GO:0001821 9.26 CSF2 EDN1
17 ossification GO:0001503 9.26 BGLAP BMP6 CASR TNFSF11
18 regulation of signaling receptor activity GO:0010469 9.17 BMP6 CSF2 EDN1 FGF2 IL1B NPPA

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

# Name GO ID Score Top Affiliating Genes
1 ligand-dependent 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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