HCA2
MCID: HYP268
MIFTS: 35

Hypercalciuria, Absorptive (HCA2) malady

Categories: Genetic diseases

Aliases & Classifications for Hypercalciuria, Absorptive

Aliases & Descriptions for Hypercalciuria, Absorptive:

Name: Hypercalciuria, Absorptive 54 13 52
Hypercalciuria, Absorptive, Susceptibility to 24 13
Hypercalciuria Familial Idiopathic 66 29
Hypercalciuria 42 69
Hca2 24 66
Hypercalciuria, Familial Idiopathic 24
Hypercalciuria, Absorptive 2 24
Hypercalciuria Absorptive 2 66

Characteristics:

HPO:

32
hypercalciuria, absorptive:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 143870
MedGen 40 C0342639
MeSH 42 D053565

Summaries for Hypercalciuria, Absorptive

UniProtKB/Swiss-Prot : 66 Hypercalciuria absorptive 2: A common type of hypercalciuria, a condition characterized by excessive urinary calcium excretion. Absorptive hypercalciuria is due to gastrointestinal hyperabsorption of calcium and is a frequent cause of calcium oxalate nephrolithiasis.

MalaCards based summary : Hypercalciuria, Absorptive, also known as hypercalciuria, absorptive, susceptibility to, is related to hypophosphatemic rickets and hypophosphatemic rickets with hypercalciuria, and has symptoms including hypercalciuria, calcium oxalate nephrolithiasis and polyuria. An important gene associated with Hypercalciuria, Absorptive is ADCY10 (Adenylate Cyclase 10, Soluble). The drugs Calcium carbonate and Cholecalciferol have been mentioned in the context of this disorder. Related phenotypes are Decreased shRNA abundance and homeostasis/metabolism

Description from OMIM: 143870

Related Diseases for Hypercalciuria, Absorptive

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

(show top 50) (show all 101)
id Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets 31.8 CLCN5 CLDN16
2 hypophosphatemic rickets with hypercalciuria 12.3
3 idiopathic hypercalciuria 12.0
4 dent disease 11.8
5 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.7
6 hypomagnesemia 5, renal, with ocular involvement 11.6
7 hypomagnesemia 3, renal 11.6
8 proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 11.5
9 bartter syndrome, type 2 11.5
10 bartter syndrome, type 1 11.5
11 bartter syndrome, type 4a 11.3
12 nephrolithiasis 11.1
13 hypocalcemia, autosomal dominant 11.0
14 nephrolithiasis, type i 10.9
15 bartter disease 10.9
16 hypomagnesemia 1, intestinal 10.8
17 image syndrome 10.8
18 bartter syndrome, type 3 10.8
19 primary hypomagnesemia 10.7
20 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.7
21 bartter disease type 5 10.7
22 dent disease 2 10.7
23 bartter syndrome, type 4b, digenic 10.7
24 hypophosphatemic rickets, autosomal dominant 10.7
25 slc4a1-associated distal renal tubular acidosis 10.7
26 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.7
27 hypocalcemia, autosomal dominant 2 10.7
28 fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 10.7
29 nephrocalcinosis 10.5
30 rickets 10.3
31 hereditary hypophosphatemic rickets 10.2
32 waardenburg syndrome, type 4b 10.1 CASR VDR
33 deafness, autosomal recessive 42 10.1 CASR VDR
34 mitochondrial dna depletion syndrome 6 10.1 CASR VDR
35 hyperaldosteronism, familial, type iii 10.1 CASR KCNJ1
36 pes anserinus tendinitis or bursitis 10.1 CASR VDR
37 tinea unguium 10.1 CASR VDR
38 weill-marchesani syndrome 10.1 CASR VDR
39 ectopic cushing syndrome 10.1 ADCY10 CLDN16
40 episodic kinesigenic dyskinesia 2 10.1 CASR KCNJ1
41 pre-eclampsia 10.0 CASR VDR
42 malignant biphasic mesothelioma 10.0 CLCN5 KCNJ1
43 parathyroid carcinoma 10.0 CASR VDR
44 subserous uterine fibroid 10.0 CASR VDR
45 opioid abuse 10.0 ADCY10 CASR VDR
46 coffin-lowry syndrome 10.0 SLC34A3 VDR
47 bipolar disorder 9.9 CASR CLCN5 KCNJ1
48 down syndrome 9.9
49 bile duct mucoepidermoid carcinoma 9.9 CASR VDR
50 opportunistic bacterial infectious disease 9.9 CLCN5 SLC34A3

Graphical network of the top 20 diseases related to Hypercalciuria, Absorptive:



Diseases related to Hypercalciuria, Absorptive

Symptoms & Phenotypes for Hypercalciuria, Absorptive

Symptoms by clinical synopsis from OMIM:

143870

Clinical features from OMIM:

143870

Human phenotypes related to Hypercalciuria, Absorptive:

32
id Description HPO Frequency HPO Source Accession
1 hypercalciuria 32 HP:0002150
2 calcium oxalate nephrolithiasis 32 HP:0008672

UMLS symptoms related to Hypercalciuria, Absorptive:


polyuria, lower urinary tract symptoms, urological manifestations

GenomeRNAi Phenotypes related to Hypercalciuria, Absorptive according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.8 ADCY10 CLCN5 SLC34A3

MGI Mouse Phenotypes related to Hypercalciuria, Absorptive:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 ADCY10 CASR CLCN5 CLDN16 KCNJ1 SLC34A3
2 renal/urinary system MP:0005367 9.1 CASR CLCN5 CLDN16 KCNJ1 SLC34A3 VDR

Drugs & Therapeutics for Hypercalciuria, Absorptive

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

(show top 50) (show all 89)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium carbonate Approved Phase 4,Phase 1,Phase 2 471-34-1
2
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 67-97-0 6221 10883523 5280795
3
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 50-14-6 5280793
4
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
5 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1
6 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1
7 Ergocalciferols Phase 4,Phase 3,Phase 2,Phase 1
8 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1
9 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1
10 vitamin d Phase 4,Phase 3,Phase 2,Phase 1
11 Vitamins Phase 4,Phase 3,Phase 2,Phase 1
12 Antacids Phase 4,Phase 1,Phase 2
13 Anti-Ulcer Agents Phase 4,Phase 1,Phase 2
14 Gastrointestinal Agents Phase 4,Phase 1,Phase 2
15 Retinol palmitate Phase 4
16 Calciferol Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
17 Vitamin D2 Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
18 Olive Nutraceutical Phase 4
19 retinol Nutraceutical Phase 4
20
Potassium Citrate Approved, Vet_approved Phase 3,Phase 2
21
Alendronate Approved Phase 3,Phase 2 121268-17-5, 66376-36-1 2088
22
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
23 Adrenocorticotropic Hormone Phase 2, Phase 3
24 beta-endorphin Phase 2, Phase 3
25 Endorphins Phase 2, Phase 3
26 Hormone Antagonists Phase 2, Phase 3
27 Hormones Phase 2, Phase 3
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
29 Melanocyte-Stimulating Hormones Phase 2, Phase 3
30 Neurotransmitter Agents Phase 2, Phase 3
31 Anticoagulants Phase 3,Phase 2
32 Cariostatic Agents Phase 3
33 Chelating Agents Phase 3,Phase 2
34 diuretics Phase 3,Phase 2
35 Expectorants Phase 3,Phase 2
36 Natriuretic Agents Phase 3,Phase 2
37 potassium phosphate Phase 3,Phase 1,Phase 2
38 Protective Agents Phase 3
39 Respiratory System Agents Phase 3,Phase 2
40 Sodium Chloride Symporter Inhibitors Phase 2, Phase 3
41 Antihypertensive Agents Phase 2, Phase 3
42 Citrate Nutraceutical Phase 3,Phase 2
43
Citric Acid Nutraceutical, Vet_approved Phase 3,Phase 2 77-92-9 311
44
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757 53477783
45
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
46
Indapamide Approved Phase 2 26807-65-8 3702
47
Amiloride Approved Phase 2 2016-88-8, 2609-46-3 16231
48
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453
49
Alfacalcidol Approved, Nutraceutical Phase 2 41294-56-8 5282181
50 Contraceptive Agents Phase 2

Interventional clinical trials:

(show all 42)
id Name Status NCT ID Phase
1 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4
2 Vitamin D Repletion in Stone Formers With Hypercalciuria Completed NCT01295879 Phase 4
3 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4
4 A Study on Oral Vitamin D Megadoses Completed NCT01067898 Phase 4
5 Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria. Recruiting NCT02238418 Phase 4
6 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3
7 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3
8 Phase III Randomized, Double-Blind Study of Potassium Phosphate Vs Potassium Citrate for Absorptive Hypercalciuria Completed NCT00004284 Phase 3
9 A Study of MK0217A and Dietary Supplement in Men and Postmenopausal Women With Osteoporosis (0217A-227) Completed NCT00092079 Phase 3
10 HEXT (Hypo EXTended): Effect of PTH on Skeleton in Hypoparathyroidism Active, not recruiting NCT01199614 Phase 3
11 Does Vitamin D Reduce Risk of Developing Type II DM in High Risk Individuals Active, not recruiting NCT01170468 Phase 3
12 Dose-Dependent Effect of Thiazide in Dent's Disease Hypercalciuria Terminated NCT00638482 Phase 2, Phase 3
13 Does Vitamin D Improve Glycemic Control in Type II DM? Terminated NCT01170442 Phase 3
14 The Effects of Estrogen Replacement Therapy in Postmenopausal Women With Hypercalciuria and Low Bone Mass Unknown status NCT01928082 Phase 2
15 Vitamin D as a Modifier of Serum Hepcidin in Children With Chronic Kidney Disease Unknown status NCT01532349 Phase 2
16 Study of Dose-Effect of COL-121 Ointment in Patients With Plaque-Type Psoriasis Completed NCT00625326 Phase 2
17 A Study Comparing Amorphous Calcium Carbonate (ACC) Versus Crystalline Calcium CCS) in Hypoparathyroidism Patients Completed NCT01815021 Phase 1, Phase 2
18 Prevention of Vitamin D Deficiency Following Pediatric CHD Surgery: a Phase II Dose Evaluation Randomized Controlled Trial Comparing Usual Care With a High Dose Pre-operative Supplementation Regimen Based on the Institute of Medicine Daily Upper Tolerable Completed NCT01838447 Phase 2
19 Alendronate and/or Parathyroid Hormone for Osteoporosis Completed NCT00000400 Phase 2
20 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2
21 Treatment for Calcium Phosphate Kidney Stone Disease Recruiting NCT01754779 Phase 2
22 Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Autosomal Dominant Hypocalcemia Recruiting NCT02824718 Phase 2
23 Magnitude of Changes in 25 OH Vitamin D3 Levels After Vitamin D3 Supplementation Active, not recruiting NCT01170507 Phase 1, Phase 2
24 Vitamin D Therapy in Patients With Systemic Lupus Erythematosus (SLE) Completed NCT00418587 Phase 1
25 The Links Between Water and Salt Intake, Body Weight, Hypertension and Kidney Stones: a Difficult Puzzle Unknown status NCT01100580
26 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009
27 Effects of Potassium Citrate in Urine of Children With Elevated Calcium in Urine and Kidney Stones Completed NCT00120731
28 Spironolactone to Decrease Potassium Wasting in Hypercalciurics on Thiazides Diuretics Completed NCT00276289
29 Preterm Infants and Nephrocalcinosis Completed NCT02438267
30 Study the Effects of Vitamin D and Calcium Supplementation at Tolerable Upper Limit Doses on Calcium Metabolism. Completed NCT02019381
31 Effect of Sodium Thiosulfate on Urine Chemistries of Hypercalciuric Stone Formers Completed NCT01088555
32 Effect of Vitamin D Oral Supplements on 25 OH Vitamin D Levels Completed NCT01170494
33 Vitamin D Supplementation in Older Women Completed NCT00472823
34 Night Time Use of Thiazide Diuretics for Improved Reduction in Stone Risk in Stone Formers With Elevated Urine Calcium Recruiting NCT02711670
35 Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806
36 Monitored vs Standard Supplementation of Vitamin D in Preterm Infants Recruiting NCT03087149
37 Hypercalciuria and Calcium Stone Disease in Caucasian Patients Available NCT00765531
38 Assessing the Impact of a Mode of Vitamin D Supplementation (Sequential Dose vs Daily Dose) on the Incidence of Hypercalciuria in Children Aged From 2 to 6 Years Not yet recruiting NCT02975492
39 Calciuric Effect and Cyclic Parenteral Nutrition in Preterm Infants Suspended NCT00711763
40 Effect of Vitamin D Replacement in Patients With Urolithiasis Terminated NCT01349764
41 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305
42 Effect of Magnesium Sulfate Infusion Rate on Magnesium Retention in Critically Ill Patients Terminated NCT01426165

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Cochrane evidence based reviews: hypercalciuria

Genetic Tests for Hypercalciuria, Absorptive

Genetic tests related to Hypercalciuria, Absorptive:

id Genetic test Affiliating Genes
1 Familial Idiopathic Hypercalciuria 29
2 Hypercalciuria, Absorptive 2 24 ADCY10

Anatomical Context for Hypercalciuria, Absorptive

Publications for Hypercalciuria, Absorptive

Variations for Hypercalciuria, Absorptive

Expression for Hypercalciuria, Absorptive

Search GEO for disease gene expression data for Hypercalciuria, Absorptive.

Pathways for Hypercalciuria, Absorptive

GO Terms for Hypercalciuria, Absorptive

Cellular components related to Hypercalciuria, Absorptive according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 apical part of cell GO:0045177 8.62 ADCY10 CLCN5

Biological processes related to Hypercalciuria, Absorptive according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.26 CLCN5 CLDN16 KCNJ1 SLC34A3
2 cellular calcium ion homeostasis GO:0006874 9.16 CASR VDR
3 excretion GO:0007588 8.8 CLCN5 CLDN16 KCNJ1

Sources for Hypercalciuria, Absorptive

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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