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HCA2
MCID: HYP733
MIFTS: 45

Hypercalciuria, Absorptive, 2 (HCA2)

Categories: Gastrointestinal diseases, Genetic diseases, Nephrological diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hypercalciuria, Absorptive, 2

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MalaCards integrated aliases for Hypercalciuria, Absorptive, 2:

Name: Hypercalciuria, Absorptive, 2 56
Hypercalciuria, Absorptive, Susceptibility to 56 13 6
Hypercalciuria, Absorptive 56 54
Hypercalciuria 43 71
Hca2 56 73
Hypercalciuria, Familial Idiopathic 56
Hypercalciuria Familial Idiopathic 73
Familial Idiopathic Hypercalciuria 29
Hypercalciuria, Absorptive, Type 2 39
Hypercalciuria Absorptive 2 73
Absorptive Hypercalciuria 36

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

31
hypercalciuria, absorptive, 2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Gastrointestinal diseases Nephrological diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 56 143870
KEGG 36 H02340
MeSH 43 D053565
MedGen 41 C0342639
SNOMED-CT via HPO 68 263681008 444717006 71938000
UMLS 71 C0020438
Sources

Summaries for Hypercalciuria, Absorptive, 2

About this section
KEGG : 36 Absorptive hypercalciuria (AH) is a kidney stone-forming condition frequently complicated by bone loss. AH is characterized by intestinal hyperabsorption of calcium in the presence of normal serum calcium and iPTH. In the patients, eighteen base substitutions were identified in the soluble adenylate cyclase gene.

MalaCards based summary : Hypercalciuria, Absorptive, 2, also known as hypercalciuria, absorptive, susceptibility to, is related to bartter syndrome, type 2, antenatal and hypomagnesemia 5, renal, with or without ocular involvement, and has symptoms including polyuria, lower urinary tract symptoms and urological manifestations. An important gene associated with Hypercalciuria, Absorptive, 2 is ADCY10 (Adenylate Cyclase 10), and among its related pathways/superpathways are Apelin signaling pathway and cAMP signaling pathway. The drugs Alendronate and Risedronate have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and breast, and related phenotypes are hypercalciuria and calcium oxalate nephrolithiasis

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 143870
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Related Diseases for Hypercalciuria, Absorptive, 2

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Diseases in the Hypercalciuria, Absorptive, 2 family:

Hypercalciuria, Absorptive, 1

Diseases related to Hypercalciuria, Absorptive, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 267)
# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 2, antenatal 33.3 KCNJ1 CASR
2 hypomagnesemia 5, renal, with or without ocular involvement 33.2 KCNJ1 CLDN16
3 bartter syndrome, type 1, antenatal 32.7 KCNJ1 CLDN16 CASR
4 dent disease 1 32.4 SLC34A3 KCNJ1 CLCN5
5 bartter syndrome, type 3 32.2 KCNJ1 CLDN16
6 bartter disease 32.0 KCNJ1 CLDN16 CLCN5 CASR
7 hypophosphatemic rickets, x-linked recessive 31.8 VDR SLC34A3 CLCN5
8 hypocalcemia, autosomal dominant 1 31.7 VDR KCNJ1 CLDN16 CASR
9 metaphyseal chondrodysplasia, jansen type 31.3 SLC34A3 CASR
10 urolithiasis 30.3 VDR CASR
11 hypercalcemia, infantile, 1 30.2 VDR CASR
12 secondary hyperparathyroidism 30.2 VDR CASR
13 hypokalemia 30.1 KCNJ1 CASR
14 bone resorption disease 30.1 VDR CASR
15 hypophosphatemia 30.1 VDR SLC34A3 CLCN5
16 parathyroid adenoma 30.0 VDR CASR
17 renal osteodystrophy 30.0 VDR CASR
18 primary hyperparathyroidism 30.0 VDR CASR
19 nephrolithiasis, calcium oxalate 29.9 VDR CLCN5 CASR
20 hypoparathyroidism 29.8 VDR CASR
21 rickets 29.7 VDR SLC34A3 CLCN5 CASR
22 diabetes insipidus, nephrogenic, autosomal 29.7 KCNJ1 CASR
23 uremia 29.5 VDR CASR
24 fanconi syndrome 29.4 SLC34A3 CLCN5
25 osteomalacia 29.4 VDR SLC34A3 CLCN5 CASR
26 bone disease 29.1 VDR SLC34A3 CASR
27 gitelman syndrome 29.1 KCNJ1 CLDN16 CASR
28 idiopathic hypercalciuria 28.6 VDR SLC34A3 CLCN5 CASR ADCY10
29 cystic fibrosis 28.5 KCNJ1 CLCN5 ADCY10
30 nephrocalcinosis 27.9 SLC34A3 KCNJ1 CLDN16 CLCN5 CASR
31 nephrolithiasis 27.7 VDR SLC34A3 KCNJ1 CLDN16 CLCN5 CASR
32 hypophosphatemic rickets with hypercalciuria, hereditary 12.7
33 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 12.7
34 hypercalciuria, absorptive, 1 12.6
35 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 12.6
36 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria 12.4
37 hypomagnesemia 3, renal 12.2
38 bartter syndrome, type 4a, neonatal, with sensorineural deafness 12.0
39 nephrolithiasis, x-linked recessive, with renal failure 11.6
40 hereditary hypophosphatemic rickets 11.6
41 hypocalciuric hypercalcemia, familial, type i 11.6
42 distal renal tubular acidosis 11.4
43 nephrolithiasis/osteoporosis, hypophosphatemic, 1 11.4
44 pseudohypoaldosteronism, type iie 11.4
45 idiopathic infantile hypercalcemia 11.3
46 bartter syndrome, type 5, antenatal, transient 11.2
47 bartter syndrome, type 4b, neonatal, with sensorineural deafness 11.2
48 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 11.2
49 dent disease 2 11.1
50 nephrolithiasis/osteoporosis, hypophosphatemic, 2 11.1

Graphical network of the top 20 diseases related to Hypercalciuria, Absorptive, 2:



Diseases related to Hypercalciuria, Absorptive, 2
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Symptoms & Phenotypes for Hypercalciuria, Absorptive, 2

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Human phenotypes related to Hypercalciuria, Absorptive, 2:

31
# Description HPO Frequency HPO Source Accession
1 hypercalciuria 31 HP:0002150
2 calcium oxalate nephrolithiasis 31 HP:0008672

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
hypercalciuria
increased erythrocyte-membrane calcium-magnesium-atpase
increased sodium-potassium pump activity

Genitourinary Kidneys:
calcium oxalate nephrolithiasis

Clinical features from OMIM:

143870

UMLS symptoms related to Hypercalciuria, Absorptive, 2:


polyuria, lower urinary tract symptoms, urological manifestations

GenomeRNAi Phenotypes related to Hypercalciuria, Absorptive, 2 according to GeneCards Suite gene sharing:

26
# 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, 2:

45
# 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
Sources

Drugs & Therapeutics for Hypercalciuria, Absorptive, 2

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Drugs for Hypercalciuria, Absorptive, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 94)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
2
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
3
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
4
Zoledronic Acid Approved Phase 4 118072-93-8 68740
5
Calcium carbonate Approved, Investigational Phase 4 471-34-1
6
Sodium citrate Approved, Investigational Phase 4 68-04-2
7
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
8
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
9
Cinacalcet Approved Phase 4 226256-56-0 156419
10
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
11
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
12
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
13
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
14
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
15 Ergocalciferols Phase 4
16 Vitamin D2 Phase 4
17 Diphosphonates Phase 4
18 calcium channel blockers Phase 4
19 Retinol palmitate Phase 4
20 retinol Phase 4
21 Gastrointestinal Agents Phase 4
22 Antacids Phase 4
23 Anti-Ulcer Agents Phase 4
24 Calcium Supplement Phase 4
25 Hormones Phase 4
26 Hormone Antagonists Phase 4
27 Citrate Phase 4
28 Chelating Agents Phase 4
29 Anticoagulants Phase 4
30 Immunoglobulins Phase 4
31 Antibodies Phase 4
32 Antibodies, Monoclonal Phase 4
33 Immunologic Factors Phase 4
34 Vitamins Phase 4
35 Calcium, Dietary Phase 4
36 Calciferol Phase 4
37 Trace Elements Phase 4
38 Nutrients Phase 4
39 Micronutrients Phase 4
40
Calcium Nutraceutical Phase 4 7440-70-2 271
41
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
42 Anticonvulsants Phase 3
43 Adrenocorticotropic Hormone Phase 2, Phase 3
44 Endorphins Phase 2, Phase 3
45 Neurotransmitter Agents Phase 2, Phase 3
46 Melanocyte-Stimulating Hormones Phase 2, Phase 3
47 beta-Endorphin Phase 2, Phase 3
48 potassium phosphate Phase 3
49 Protective Agents Phase 3
50 Immunosuppressive Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 73)
# Name Status NCT ID Phase Drugs
1 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
2 Effect of Ergocalciferol Repletion on Urine Calcium Among Stone Formers With Vitamin D Deficiency and Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
3 Évaluation Multidimensionnelle de la réponse au Traitement de l'ostéoporose spontanée et Induite Par Les corticostéroïdes à l'Aide d'un Bisphosphonate à Administration Orale Chez Des Malades Porteurs d'Une Dystrophie Musculaire sévère. Completed NCT01882400 Phase 4 Bisphosphonate treatment
4 The Efficacy of Zoledronic Acid in the Prevention of Bone Loss in Acute Spinal Cord Injury Completed NCT02042872 Phase 4 Zoledronic acid
5 Vitamin D Supplementation in Children and Adolescents Seen in the Paediatric Nephrology Service: Study of the Efficacy of Service Usual Care (Cholecalciferol) and Its Impact on Calciuria. Completed NCT02238418 Phase 4 Cholecalciferol vial (100 000 UI)
6 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
7 Efficacy of a Calcimimetic (Cinacalcet) in the Long Term Control of Patients With Primary Hyperparathyroidism Completed NCT02417389 Phase 4 cinacalcet;Alendronate
8 CALCIUM CITRATE vs CALCIUM CARBONATE FOR THE MANAGEMENT OF CHRONIC HYPOPARATHYROIDISM Completed NCT03425747 Phase 4 Calcium Carbonate;Calcium Citrate
9 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Recruiting NCT04146935 Phase 4 Burosumab Injection [Crysvita]
10 Novel Combination Therapy for Osteoporosis in Men Recruiting NCT03994172 Phase 4 Teriparatide or human parathyroid hormone (PTH) 1-34;Cinacalcet;placebo tablet
11 The Impact of Serum Vitamin D and Calcium Levels on the Body Composition, Bone Mineral Density, Muscle Strength, Exercise Tolerance, Fatigue and Inflammatory Activity in Patients With Crohn's Disease: a Randomized Controlled Trial Enrolling by invitation NCT02704624 Phase 4
12 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
13 Effect of the Treatment of Vitamin D Deficiency in Drug-resistant Epilepsy Unknown status NCT03475225 Phase 3 Cholecalciferol;Placebo Oral
14 Phase III Randomized, Double-Blind Study of Potassium Phosphate Vs Potassium Citrate for Absorptive Hypercalciuria Completed NCT00004284 Phase 3 potassium citrate;potassium phosphate
15 Calcium Nephrolithiasis: Clinical Characteristics and Nutritional Determinants Completed NCT01005082 Phase 2, Phase 3
16 A Study to Evaluate the Effects of Calcium Supplementation on the Efficacy and Safety of Recombinant Human Parathyroid Hormone (ALX1-11) in Postmenopausal Women With Osteoporosis (CAP Study) Completed NCT00172172 Phase 3 PTH/Calcium;PTH/placebo;placebo
17 Vitamin D In the Prevention of Viral-induced Asthma of Preschoolers: a Randomised Controlled Trial (RCT)- (DIVA) Completed NCT02197702 Phase 2, Phase 3
18 An 18-Month Open Label Extension Study (OLES) of the Safety and Efficacy of Recombinant Human Parathyroid Hormone, rhPTH(1-84), ALX1-11, in Women With Postmenopausal Osteoporosis Who Participated in Protocol ALX1-11-93001 (TOP Study) Completed NCT00172133 Phase 3 ALX1-11 (drug)
19 The Effect of Vitamin D and Calcium on Bone in Pediatric HIV Completed NCT00724178 Phase 2, Phase 3
20 Randomized Controlled Trial of High Dose Vitamin D in Children With Newly Diagnosed Crohn's Disease for the Prevention of Relapses Recruiting NCT02186275 Phase 3 Vitamin D3: 3000 or 4000 UI/day then 2,000 UI/day;Vitamin D3 800 UI/day then 800 UI/day
21 Rapid Normalization of Vitamin D Deficiency in PICU: A Multi-Centre Phase III Double-Blind Randomized Controlled Trial Recruiting NCT03742505 Phase 3 Cholecalciferol
22 HEXT: The Hypoparathyroidism Studies, EXTended: The Effect of PTH on the Skeleton in Hypoparathyroidism Active, not recruiting NCT01199614 Phase 3 open-label PTH(1-84)
23 Randomized Double-blind Placebo-controlled Trial Assessing the Efficacy of Standard and Low Dose Hydrochlorothiazide Treatment in the Prevention of Recurrent Nephrolithiasis Active, not recruiting NCT03057431 Phase 3 Placebo oral capsule;12.5 mg hydrochlorothiazide;25.0 mg hydrochlorothiazide;50.0 mg hydrochlorothiazide
24 A Pragmatic Randomized Controlled Trial on High Dose Vitamin D to Prevent Relapses of Crohn's Disease in Children Not yet recruiting NCT03999580 Phase 3 vitamin D3
25 Pharmacodynamic Evaluation of the ANTICALCIURIC Effect of Hydrochlorothiazide in Dent's Disease Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
26 Cholecalciferol Supplementation in Critically Ill Patients With Severe Vitamin D Deficiency in Intensive Care Unit- A Randomized Controlled Trial. Terminated NCT02868827 Phase 2, Phase 3 Cholecalciferol
27 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Completed NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
28 A Phase II Study of the Dose-Effect of COL-121 Ointment in Patients With Plaque-Type Psoriasis Completed NCT00625326 Phase 2 COL-121;50 µg/g Calcipotriene Ointment;Placebo;COL-121;COL-121
29 Cholecalciferol as a Modifier of Serum Hepcidin in Children With Chronic Kidney Disease Completed NCT01532349 Phase 2 Cholecalciferol
30 Effects of High-Dose Vitamin D on Circulating Vitamin D Levels and Breast Density in Postmenopausal Women at High Risk for Breast Cancer Development Completed NCT00859651 Phase 2 Cholecalciferol;Placebo capsule
31 Treatment of Hypoparathyroidism With Synthetic Human Parathyroid Hormone 1-34 Completed NCT00001304 Phase 2 Synthetic Human Parathyroid Hormone 1-34;Calcitriol & Calcium
32 Prevention of Post-Cardiac Surgery Vitamin D Deficiency in Children With Congenital Heart Disease: A Pilot Dose Evaluation Randomized Controlled Trial Completed NCT01838447 Phase 2
33 Calcium Supplementation for Bone Mineralization in Juvenile Rheumatoid Arthritis (JRA) Completed NCT00000429 Phase 2 Calcium carbonate
34 Rapid Normalization of Vitamin D in Critically Ill Children: A Phase II Dose Evaluation Randomized Controlled Trial Completed NCT02452762 Phase 2 Vitamin D3;Placebo
35 Vitamin D Dose-Response Study to Establish Dietary Requirements in Infants Completed NCT00381914 Phase 2 Vitamin D;Vitamin D;Vitamin D
36 A Randomized, Two Phase, Adaptive Then Crossover Open-label, Study Comparing Amorphous Calcium Carbonate (ACC) Supplement Versus Commercially Available Crystalline Calcium Supplements (CCS) in the Management of Primary Hypoparathyroidism. Completed NCT01815021 Phase 1, Phase 2
37 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene Recruiting NCT03301038 Phase 2 Rifampin
38 A Randomized Crossover TrIal to Compare Recombinant Human rhPTH(1-34) to the ASsociation Alfacalcidol/Hydrochlorothiazide in the Treatment of Severe Primary Hypoparathyroidism Recruiting NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
39 Pharmacological Therapy for Calcium Phosphate Urolithiasis Recruiting NCT01754779 Phase 2 Placebo;Indapamide
40 The Effects of Estrogen Replacement Therapy in Postmenopausal Women With Hypercalciuria and Low Bone Mass Terminated NCT01928082 Phase 2 Transdermal estradiol
41 Safety and Efficacy of Chlorthalidone to Reduce Urinary Calcium Excretion in Adolescents/Yount Adult With Type 1 Diabetes Terminated NCT03325114 Phase 2 Chlorthalidone
42 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Idiopathic Infantile Hypercalcemia Unknown status NCT03384121 Phase 1 Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension
43 Skeletal Muscle Strength Including Its Energy Metabolism, Bone Mineral Homeostasis and Th1/Th2 Cytokines Expression in Asian Indians With Chronic Hypovitaminosis D Before and After Oral Cholecalciferol Supplementation Completed NCT00682214 Phase 1 Cholecalciferol;Lactose placebo
44 Comparison of Skeletal and Mineral Metabolism Responses in Healthy African-Americans and Caucasians Using a Continuous Seven-Day Parathyroid Hormone (PTH) or Parathyroid Hormone-related Protein (PTHrP) Infusion Withdrawn NCT01333267 Phase 1 Parathyroid Hormone-related Protein (1-36);parathyroid hormone (1-34);PTH (1-34) and PTHrP (1-36)
45 Night-time Use of Thiazide Diuretics for Improved Reduction in Stone Risk in Stone Formers With Elevated Urine Calcium Unknown status NCT02711670 chlorthalidone;Hydrochlorothiazide
46 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH) Unknown status NCT03268460
47 The Links Between Water and Salt Intake, Body Weight, Hypertension and Kidney Stones: a Difficult Puzzle Unknown status NCT01100580
48 Case-control Study of the PTH Homeostasis in Adolescents and Young Adults With Bartter Syndrome Unknown status NCT01021280
49 Relation Between Bone Mineral Density and the Regulation of Mineral Metabolism in Renal Stone Formers Completed NCT00416052
50 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009

Search NIH Clinical Center for Hypercalciuria, Absorptive, 2

Cochrane evidence based reviews: hypercalciuria

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Genetic Tests for Hypercalciuria, Absorptive, 2

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Genetic tests related to Hypercalciuria, Absorptive, 2:

# Genetic test Affiliating Genes
1 Familial Idiopathic Hypercalciuria 29 ADCY10
Sources

Anatomical Context for Hypercalciuria, Absorptive, 2

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MalaCards organs/tissues related to Hypercalciuria, Absorptive, 2:

40
Bone, Kidney, Breast, Colon, Spinal Cord, Liver, Heart
Sources

Publications for Hypercalciuria, Absorptive, 2

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Articles related to Hypercalciuria, Absorptive, 2:

(show top 50) (show all 205)
# Title Authors PMID Year
1
Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density. 6 56
11932268 2002
2
Mapping a gene defect in absorptive hypercalciuria to chromosome 1q23.3-q24. 56
10566627 1999
3
Mechanism of hypercalciuria in genetic hypercalciuric rats. Inherited defect in intestinal calcium transport. 56
3183056 1988
4
Abnormal red-cell calcium pump in patients with idiopathic hypercalciuria. 56
2971139 1988
5
"Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. 56
3796683 1987
6
Hereditary hypophosphatemic rickets with hypercalciuria. 56
2983203 1985
7
Idiopathic hypercalciuria: a familial generalized renal hyperexcretory state. 56
6645219 1983
8
Familial absorptive hypercalciuria in a large kindred. 56
7321108 1981
9
Autosomal dominant inheritance of hypercalciuria. 56
7389737 1980
10
Familial idiopathic hypercalciuria. 56
759893 1979
11
Triptolide impairs genome integrity by directly blocking the enzymatic activity of DNA-PKcs in human cells. 61
32574974 2020
12
Subcutaneous administration of β-hydroxybutyrate improves learning and memory of sepsis surviving mice. 61
31853744 2020
13
Commensal-bacteria-derived butyrate promotes the T-cell-independent IgA response in the colon. 61
31858119 2020
14
Niacin protects against abdominal aortic aneurysm formation via GPR109A independent mechanisms: role of NAD+/nicotinamide. 61
31710686 2019
15
Nicotinic acid suppresses sebaceous lipogenesis of human sebocytes via activating hydroxycarboxylic acid receptor 2 (HCA2 ). 61
31273921 2019
16
Acipimox Acutely Increases GLP-1 Concentrations in Overweight Subjects and Hypopituitary Patients. 61
30726969 2019
17
Strong CD8+ lymphocyte infiltration in combination with expression of HLA class I is associated with better tumor control in breast cancer patients treated with neoadjuvant chemotherapy. 61
30868392 2019
18
Lactate-induced activation of HCA2 improves survival in mice with sepsis. 61
30951370 2019
19
Metabolites of lactic acid bacteria present in fermented foods are highly potent agonists of human hydroxycarboxylic acid receptor 3. 61
31120900 2019
20
A method for semi-automated image analysis of HLA class I tumour epithelium expression in rectal cancer. 61
31113192 2019
21
Deficiency of metabolite sensing receptor HCA2 impairs the salutary effect of niacin in hemorrhagic shock. 61
30625381 2019
22
The activation of retinal HCA2 receptors by systemic beta-hydroxybutyrate inhibits diabetic retinal damage through reduction of endoplasmic reticulum stress and the NLRP3 inflammasome. 61
30657794 2019
23
Production of long-chain free fatty acids from metabolically engineered Rhodobacter sphaeroides heterologously producing periplasmic phospholipase A2 in dodecane-overlaid two-phase culture. 61
30704481 2019
24
Mobile PEAR transcription factors integrate positional cues to prime cambial growth. 61
30626969 2019
25
Fatty and hydroxycarboxylic acid receptors: The missing link of immune response and metabolism in cattle. 61
29914687 2018
26
4-Hydroxynonenal-induced GPR109A (HCA2 receptor) activation elicits bipolar responses, Gαi -mediated anti-inflammatory effects and Gβγ -mediated cell death. 61
29473951 2018
27
Dimethyl fumarate downregulates the immune response through the HCA2/GPR109A pathway: Implications for the treatment of multiple sclerosis. 61
29763776 2018
28
A review of the mechanisms of action of dimethylfumarate in the treatment of psoriasis. 61
29603404 2018
29
Probabilistic assessment of dietary exposure to heterocyclic amines and polycyclic aromatic hydrocarbons from consumption of meats and breads in the United States. 61
29448093 2018
30
Hydroxycarboxylic Acid Receptor Ligands Modulate Proinflammatory Cytokine Expression in Human Macrophages and Adipocytes without Affecting Adipose Differentiation. 61
30270326 2018
31
The Immunometabolomic Interface Receptor Hydroxycarboxylic Acid Receptor 2 Mediates the Therapeutic Effects of Dimethyl Fumarate in Autoantibody-Induced Skin Inflammation. 61
30154797 2018
32
Increased infiltration of M2-macrophages, T-cells and PD-L1 expression in high grade leiomyosarcomas supports immunotherapeutic strategies. 61
29308311 2018
33
Synthesis and evaluation of (E)-2-(5-phenylpent-2-en-4-ynamido)cyclohex-1-ene-1-carboxylate derivatives as HCA2 receptor agonists. 61
28668361 2017
34
Activated niacin receptor HCA2 inhibits chemoattractant-mediated macrophage migration via Gβγ/PKC/ERK1/2 pathway and heterologous receptor desensitization. 61
28186140 2017
35
AMP010014A09 in Sus Scrofa Encodes an Analog of G Protein-Coupled Receptor 109A, Which Mediates the Anti-Inflammatory Effects of Beta-Hydroxybutyric Acid. 61
28715817 2017
36
Increased PD-L1 and T-cell infiltration in the presence of HLA class I expression in metastatic high-grade osteosarcoma: a rationale for T-cell-based immunotherapy. 61
27853827 2017
37
Pleiotropic effects of niacin: Current possibilities for its clinical use. 61
27749252 2016
38
Activation of the niacin receptor HCA2 reduces demyelination and neurofilament loss, and promotes functional recovery after spinal cord injury in mice. 61
27568840 2016
39
Anti-inflammatory effects of the hydroxycarboxylic acid receptor 2. 61
26773933 2016
40
Expression of HCA2 Receptors in Femoral Epiphysis and Metaphysis of Rats with Dexamethasone-Induced Osteoporosis. 61
27478807 2016
41
The role of the C-terminus of the human hydroxycarboxylic acid receptors 2 and 3 in G protein activation using Gα-engineered yeast cells. 61
26656756 2016
42
Characterization of the hydroxycarboxylic acid receptor 2 in cats. 61
26164006 2015
43
Affinity and kinetics study of anthranilic acids as HCA2 receptor agonists. 61
25737085 2015
44
Discovery and characterization of GSK256073, a non-flushing hydroxy-carboxylic acid receptor 2 (HCA2) agonist. 61
25773497 2015
45
GSK256073 acutely regulates NEFA levels via HCA2 agonism but does not achieve durable glycaemic control in type 2 diabetes. A randomised trial. 61
25773496 2015
46
Nutritional or pharmacological activation of HCA(2) ameliorates neuroinflammation. 61
25766751 2015
47
Inflammation stimulates niacin receptor (GPR109A/HCA2) expression in adipose tissue and macrophages. 61
25320346 2014
48
Niacin attenuates the production of pro-inflammatory cytokines in LPS-induced mouse alveolar macrophages by HCA2 dependent mechanisms. 61
25038318 2014
49
Synthesis and evaluation of (E)-2-(acrylamido)cyclohex-1-enecarboxylic acid derivatives as HCA1, HCA2, and HCA3 receptor agonists. 61
24864041 2014
50
Energy and metabolic sensing G protein-coupled receptors during lactation-induced changes in energy balance. 61
24906926 2014
Sources

Variations for Hypercalciuria, Absorptive, 2

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ClinVar genetic disease variations for Hypercalciuria, Absorptive, 2:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC34A3 NM_001177316.2(SLC34A3):c.589A>G (p.Ile197Val)SNV Likely pathogenic 694355 9:140127689-140127689 9:137233237-137233237
2 ADCY10 ADCY10, 923C-TSNV risk factor 5178
3 ADCY10 ADCY10, 1438+30T-CSNV risk factor 5179
Sources

Expression for Hypercalciuria, Absorptive, 2

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Search GEO for disease gene expression data for Hypercalciuria, Absorptive, 2.
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Pathways for Hypercalciuria, Absorptive, 2

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Pathways related to Hypercalciuria, Absorptive, 2 according to KEGG:

36
# Name Kegg Source Accession
1 Apelin signaling pathway hsa04371
2 cAMP signaling pathway hsa04024

Pathways related to Hypercalciuria, Absorptive, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Parathyroid hormone synthesis, secretion and action 36
10.82 VDR SLC34A3 CASR
2
Mineral absorption 36
10.72 VDR SLC34A3
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GO Terms for Hypercalciuria, Absorptive, 2

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Cellular components related to Hypercalciuria, Absorptive, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.26 VDR SLC34A3 CLDN16 CASR
2 apical part of cell GO:0045177 9.16 CLCN5 ADCY10
3 apical plasma membrane GO:0016324 8.8 SLC34A3 CASR ADCY10

Biological processes related to Hypercalciuria, Absorptive, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.26 SLC34A3 KCNJ1 CLDN16 CLCN5
2 chloride transmembrane transport GO:1902476 9.16 CLCN5 CASR
3 excretion GO:0007588 8.8 KCNJ1 CLDN16 CLCN5
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Sources for Hypercalciuria, Absorptive, 2

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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