HCA2
MCID: HYP733
MIFTS: 45

Hypercalciuria, Absorptive, 2 (HCA2)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Hypercalciuria, Absorptive, 2

MalaCards integrated aliases for Hypercalciuria, Absorptive, 2:

Name: Hypercalciuria, Absorptive, 2 57
Hypercalciuria, Absorptive, Susceptibility to 57 13 6
Hypercalciuria, Absorptive 57 55
Hypercalciuria 44 72
Hca2 57 74
Hypercalciuria, Familial Idiopathic 57
Hypercalciuria Familial Idiopathic 74
Familial Idiopathic Hypercalciuria 29
Hypercalciuria, Absorptive, Type 2 40
Hypercalciuria Absorptive 2 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

32
hypercalciuria, absorptive, 2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 143870
MeSH 44 D053565
MedGen 42 C0342639
UMLS 72 C0020438

Summaries for Hypercalciuria, Absorptive, 2

UniProtKB/Swiss-Prot : 74 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, 2, also known as hypercalciuria, absorptive, susceptibility to, is related to bartter syndrome, type 2, antenatal and dent disease 1, 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 is Parathyroid hormone synthesis, secretion and action. 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

More information from OMIM: 143870

Related Diseases for Hypercalciuria, Absorptive, 2

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 33.5 KCNJ1 CASR
2 dent disease 1 33.3 CLDN16 CLCN5
3 hypophosphatemic rickets with hypercalciuria, hereditary 33.1 SLC34A3 CLDN16 ADCY10
4 bartter disease 32.7 KCNJ1 CLCN5 CASR
5 hypocalcemia, autosomal dominant 1 32.3 VDR CLDN16 CASR
6 hypophosphatemic rickets, x-linked recessive 31.7 VDR SLC34A3 CLCN5
7 hyperparathyroidism 31.4 VDR CASR
8 osteomalacia 30.8 VDR CASR
9 hypercalcemia, infantile, 1 30.4 VDR CASR
10 primary hyperparathyroidism 30.4 VDR CASR
11 hypophosphatemia 30.3 SLC34A3 CLCN5
12 renal osteodystrophy 30.1 VDR CASR
13 rickets 30.1 VDR SLC34A3 CLCN5
14 parathyroid adenoma 30.0 VDR CASR
15 bone disease 30.0 VDR SLC34A3 CASR
16 xanthinuria, type i 29.9 VDR CASR
17 gitelman syndrome 29.8 KCNJ1 CASR
18 nephrolithiasis, calcium oxalate 29.8 VDR CLCN5 CASR
19 kidney disease 29.6 VDR CLCN5 CASR
20 uremia 29.4 VDR CASR
21 nephrocalcinosis 28.9 SLC34A3 KCNJ1 CLDN16 CLCN5 CASR
22 idiopathic hypercalciuria 28.0 VDR SLC34A3 CLCN5 CASR ADCY10
23 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 12.7
24 hypercalciuria, absorptive, 1 12.6
25 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 12.6
26 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria 12.3
27 hypomagnesemia 5, renal, with or without ocular involvement 12.2
28 hypomagnesemia 3, renal 12.2
29 bartter syndrome, type 1, antenatal 12.2
30 bartter syndrome, type 4a, neonatal, with sensorineural deafness 12.0
31 nephrolithiasis, x-linked recessive, with renal failure 11.6
32 bartter syndrome, type 3 11.6
33 hereditary hypophosphatemic rickets 11.6
34 hypocalciuric hypercalcemia, familial, type i 11.5
35 secondary hyperparathyroidism 11.5
36 distal renal tubular acidosis 11.4
37 renal tubular acidosis, distal, autosomal dominant 11.4
38 pseudohypoaldosteronism, type iie 11.4
39 nephrolithiasis/osteoporosis, hypophosphatemic, 1 11.4
40 idiopathic infantile hypercalcemia 11.3
41 bartter syndrome, type 5, antenatal, transient 11.2
42 bartter syndrome, type 4b, neonatal, with sensorineural deafness 11.2
43 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 11.2
44 metaphyseal chondrodysplasia, jansen type 11.1
45 dent disease 2 11.1
46 nephrolithiasis/osteoporosis, hypophosphatemic, 2 11.1
47 hypocalcemia, autosomal dominant 2 11.1
48 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 11.1
49 bartter syndrome type 4 11.1
50 slc4a1-associated distal renal tubular acidosis 11.1

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



Diseases related to Hypercalciuria, Absorptive, 2

Symptoms & Phenotypes for Hypercalciuria, Absorptive, 2

Human phenotypes related to Hypercalciuria, Absorptive, 2:

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

Symptoms via clinical synopsis from OMIM:

57
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:

46
# 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, 2

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

(show top 50) (show all 106)
# 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
Zoledronic Acid Approved Phase 4 118072-93-8 68740
4
Sodium citrate Approved, Investigational Phase 4 68-04-2
5
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
6
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
7
Calcium carbonate Approved, Investigational Phase 4 471-34-1
8
Cinacalcet Approved Phase 4 226256-56-0 156419
9
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
10
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
11
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
12
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
13
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
14
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
15
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
16 Diphosphonates Phase 4
17 Retinol palmitate Phase 4
18 retinol Phase 4
19 Hormones Phase 4
20 Hormone Antagonists Phase 4
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
22 Calcium, Dietary Phase 4
23 Bone Density Conservation Agents Phase 4
24 Citrate Phase 4
25 Chelating Agents Phase 4
26 Anticoagulants Phase 4
27 Micronutrients Phase 4
28 Vitamins Phase 4
29 Nutrients Phase 4
30 Vitamin D2 Phase 4
31 Trace Elements Phase 4
32 Ergocalciferols Phase 4
33 Calciferol Phase 4
34 Antacids Phase 4
35 Gastrointestinal Agents Phase 4
36 Anti-Ulcer Agents Phase 4
37 Calcium Supplement Phase 4
38 Calcimimetic Agents Phase 4
39
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
40 Neurotransmitter Agents Phase 2, Phase 3
41 Adrenocorticotropic Hormone Phase 2, Phase 3
42 beta-endorphin Phase 2, Phase 3
43 Melanocyte-Stimulating Hormones Phase 2, Phase 3
44 Endorphins Phase 2, Phase 3
45 Cariostatic Agents Phase 3
46 Protective Agents Phase 3
47 potassium phosphate Phase 3
48 Anticonvulsants Phase 3
49 Immunosuppressive Agents Phase 3
50 Immunologic Factors Phase 3

Interventional clinical trials:

(show top 50) (show all 71)
# 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 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
6 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)
7 Efficacy of a Calcimimetic (Cinacalcet) in the Long Term Control of Patients With Primary Hyperparathyroidism Completed NCT02417389 Phase 4 cinacalcet;Alendronate
8 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
9 CALCIUM CITRATE vs CALCIUM CARBONATE FOR THE MANAGEMENT OF CHRONIC HYPOPARATHYROIDISM Not yet recruiting NCT03425747 Phase 4 Calcium Carbonate;Calcium Citrate
10 Novel Combination Therapy for Osteoporosis in Men Not yet recruiting NCT03994172 Phase 4 Teriparatide or human parathyroid hormone (PTH) 1-34;Cinacalcet;placebo tablet
11 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
12 Cholecalciferol Supplementation in Critically Ill Patients With Severe Vitamin D Deficiency in Intensive Care Unit- A Randomized Controlled Trial. Unknown status NCT02868827 Phase 2, Phase 3 Cholecalciferol
13 Calcium Nephrolithiasis: Clinical Characteristics and Nutritional Determinants Completed NCT01005082 Phase 2, Phase 3
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 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
16 Vitamin D In the Prevention of Viral-induced Asthma of Preschoolers: a Randomised Controlled Trial (RCT)- (DIVA) Completed NCT02197702 Phase 2, Phase 3
17 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)
18 The Effect of Vitamin D and Calcium on Bone in Pediatric HIV Completed NCT00724178 Phase 2, Phase 3
19 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
20 Randomized Double-blind Placebo-controlled Trial Assessing the Efficacy of Standard and Low Dose Hydrochlorothiazide Treatment in the Prevention of Recurrent Nephrolithiasis Recruiting NCT03057431 Phase 3 Placebo oral capsule;12.5 mg hydrochlorothiazide;25.0 mg hydrochlorothiazide;50.0 mg hydrochlorothiazide
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 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
24 Effect of the Treatment of Vitamin D Deficiency in Drug-resistant Epilepsy Not yet recruiting NCT03475225 Phase 3 Cholecalciferol;Placebo Oral
25 Pharmacodynamic Evaluation of the ANTICALCIURIC Effect of Hydrochlorothiazide in Dent's Disease Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
26 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Completed NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
27 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
28 Cholecalciferol as a Modifier of Serum Hepcidin in Children With Chronic Kidney Disease Completed NCT01532349 Phase 2 Cholecalciferol
29 Treatment of Hypoparathyroidism With Synthetic Human Parathyroid Hormone 1-34 Completed NCT00001304 Phase 2 Synthetic Human Parathyroid Hormone 1-34;Calcitriol & Calcium
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 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
32 Calcium Supplementation for Bone Mineralization in Juvenile Rheumatoid Arthritis (JRA) Completed NCT00000429 Phase 2 Calcium carbonate
33 Rapid Normalization of Vitamin D in Critically Ill Children: A Phase II Dose Evaluation Randomized Controlled Trial Completed NCT02452762 Phase 2 Vitamin D3;Placebo
34 Vitamin D Dose-Response Study to Establish Dietary Requirements in Infants Completed NCT00381914 Phase 2 Vitamin D;Vitamin D;Vitamin D
35 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
36 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene Recruiting NCT03301038 Phase 2 Rifampin
37 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
38 Pharmacological Therapy for Calcium Phosphate Urolithiasis Recruiting NCT01754779 Phase 2 Placebo;Indapamide
39 Safety and Efficacy of Chlorthalidone to Reduce Urinary Calcium Excretion in Adolescents/Yount Adult With Type 1 Diabetes Not yet recruiting NCT03325114 Phase 2 Chlorthalidone
40 The Effects of Estrogen Replacement Therapy in Postmenopausal Women With Hypercalciuria and Low Bone Mass Terminated NCT01928082 Phase 2 Transdermal estradiol
41 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
42 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Idiopathic Infantile Hypercalcemia Recruiting NCT03384121 Phase 1 Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension
43 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)
44 Night-time Use of Thiazide Diuretics for Improved Reduction in Stone Risk in Stone Formers With Elevated Urine Calcium Unknown status NCT02711670 chlorthalidone;Hydrochlorothiazide
45 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH) Unknown status NCT03268460
46 The Links Between Water and Salt Intake, Body Weight, Hypertension and Kidney Stones: a Difficult Puzzle Unknown status NCT01100580
47 Case-control Study of the PTH Homeostasis in Adolescents and Young Adults With Bartter Syndrome Unknown status NCT01021280
48 Bone Density in Children With IBD Treated With Amorphous Calcium or Commercial Crystalline Calcium: A Prospective Randomized Multicenter Trial Unknown status NCT02470663
49 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009
50 Spironolactone to Decrease Potassium Wasting in Hypercalciuric Patients Treated With Thiazide Diuretics Completed NCT00276289 Spironolactone

Search NIH Clinical Center for Hypercalciuria, Absorptive, 2

Cochrane evidence based reviews: hypercalciuria

Genetic Tests for Hypercalciuria, Absorptive, 2

Genetic tests related to Hypercalciuria, Absorptive, 2:

# Genetic test Affiliating Genes
1 Familial Idiopathic Hypercalciuria 29 ADCY10

Anatomical Context for Hypercalciuria, Absorptive, 2

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

41
Bone, Kidney, Breast, Colon, Spinal Cord, Liver, Heart

Publications for Hypercalciuria, Absorptive, 2

Articles related to Hypercalciuria, Absorptive, 2:

(show top 50) (show all 201)
# 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. 8 71
11932268 2002
2
Mapping a gene defect in absorptive hypercalciuria to chromosome 1q23.3-q24. 8
10566627 1999
3
Mechanism of hypercalciuria in genetic hypercalciuric rats. Inherited defect in intestinal calcium transport. 8
3183056 1988
4
Abnormal red-cell calcium pump in patients with idiopathic hypercalciuria. 8
2971139 1988
5
"Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. 8
3796683 1987
6
Hereditary hypophosphatemic rickets with hypercalciuria. 8
2983203 1985
7
Idiopathic hypercalciuria: a familial generalized renal hyperexcretory state. 8
6645219 1983
8
Familial absorptive hypercalciuria in a large kindred. 8
7321108 1981
9
Autosomal dominant inheritance of hypercalciuria. 8
7389737 1980
10
Familial idiopathic hypercalciuria. 8
759893 1979
11
Nicotinic acid suppresses sebaceous lipogenesis of human sebocytes via activating hydroxycarboxylic acid receptor 2 (HCA2 ). 38
31273921 2019
12
Acipimox Acutely Increases GLP-1 Concentrations in Overweight Subjects and Hypopituitary Patients. 38
30726969 2019
13
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. 38
30868392 2019
14
Lactate-induced activation of HCA2 improves survival in mice with sepsis. 38
30951370 2019
15
Metabolites of lactic acid bacteria present in fermented foods are highly potent agonists of human hydroxycarboxylic acid receptor 3. 38
31120900 2019
16
A method for semi-automated image analysis of HLA class I tumour epithelium expression in rectal cancer. 38
31113192 2019
17
Deficiency of metabolite sensing receptor HCA2 impairs the salutary effect of niacin in hemorrhagic shock. 38
30625381 2019
18
The activation of retinal HCA2 receptors by systemic beta-hydroxybutyrate inhibits diabetic retinal damage through reduction of endoplasmic reticulum stress and the NLRP3 inflammasome. 38
30657794 2019
19
Production of long-chain free fatty acids from metabolically engineered Rhodobacter sphaeroides heterologously producing periplasmic phospholipase A2 in dodecane-overlaid two-phase culture. 38
30704481 2019
20
Mobile PEAR transcription factors integrate positional cues to prime cambial growth. 38
30626969 2019
21
Fatty and hydroxycarboxylic acid receptors: The missing link of immune response and metabolism in cattle. 38
29914687 2018
22
4-Hydroxynonenal-induced GPR109A (HCA2 receptor) activation elicits bipolar responses, Gαi -mediated anti-inflammatory effects and Gβγ -mediated cell death. 38
29473951 2018
23
Dimethyl fumarate downregulates the immune response through the HCA2/GPR109A pathway: Implications for the treatment of multiple sclerosis. 38
29763776 2018
24
A review of the mechanisms of action of dimethylfumarate in the treatment of psoriasis. 38
29603404 2018
25
Probabilistic assessment of dietary exposure to heterocyclic amines and polycyclic aromatic hydrocarbons from consumption of meats and breads in the United States. 38
29448093 2018
26
The Immunometabolomic Interface Receptor Hydroxycarboxylic Acid Receptor 2 Mediates the Therapeutic Effects of Dimethyl Fumarate in Autoantibody-Induced Skin Inflammation. 38
30154797 2018
27
Hydroxycarboxylic Acid Receptor Ligands Modulate Proinflammatory Cytokine Expression in Human Macrophages and Adipocytes without Affecting Adipose Differentiation. 38
30270326 2018
28
Increased infiltration of M2-macrophages, T-cells and PD-L1 expression in high grade leiomyosarcomas supports immunotherapeutic strategies. 38
29308311 2018
29
Synthesis and evaluation of (E)-2-(5-phenylpent-2-en-4-ynamido)cyclohex-1-ene-1-carboxylate derivatives as HCA2 receptor agonists. 38
28668361 2017
30
Activated niacin receptor HCA2 inhibits chemoattractant-mediated macrophage migration via Gβγ/PKC/ERK1/2 pathway and heterologous receptor desensitization. 38
28186140 2017
31
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. 38
27853827 2017
32
AMP010014A09 in Sus Scrofa Encodes an Analog of G Protein-Coupled Receptor 109A, Which Mediates the Anti-Inflammatory Effects of Beta-Hydroxybutyric Acid. 38
28715817 2017
33
Pleiotropic effects of niacin: Current possibilities for its clinical use. 38
27749252 2016
34
Activation of the niacin receptor HCA2 reduces demyelination and neurofilament loss, and promotes functional recovery after spinal cord injury in mice. 38
27568840 2016
35
Anti-inflammatory effects of the hydroxycarboxylic acid receptor 2. 38
26773933 2016
36
The role of the C-terminus of the human hydroxycarboxylic acid receptors 2 and 3 in G protein activation using Gα-engineered yeast cells. 38
26656756 2016
37
Expression of HCA2 Receptors in Femoral Epiphysis and Metaphysis of Rats with Dexamethasone-Induced Osteoporosis. 38
27478807 2016
38
Characterization of the hydroxycarboxylic acid receptor 2 in cats. 38
26164006 2015
39
Affinity and kinetics study of anthranilic acids as HCA2 receptor agonists. 38
25737085 2015
40
Discovery and characterization of GSK256073, a non-flushing hydroxy-carboxylic acid receptor 2 (HCA2) agonist. 38
25773497 2015
41
GSK256073 acutely regulates NEFA levels via HCA2 agonism but does not achieve durable glycaemic control in type 2 diabetes. A randomised trial. 38
25773496 2015
42
Nutritional or pharmacological activation of HCA(2) ameliorates neuroinflammation. 38
25766751 2015
43
Inflammation stimulates niacin receptor (GPR109A/HCA2) expression in adipose tissue and macrophages. 38
25320346 2014
44
Niacin attenuates the production of pro-inflammatory cytokines in LPS-induced mouse alveolar macrophages by HCA2 dependent mechanisms. 38
25038318 2014
45
Synthesis and evaluation of (E)-2-(acrylamido)cyclohex-1-enecarboxylic acid derivatives as HCA1, HCA2, and HCA3 receptor agonists. 38
24864041 2014
46
Energy and metabolic sensing G protein-coupled receptors during lactation-induced changes in energy balance. 38
24906926 2014
47
Histologic chorioamnionitis: different histologic features at different gestational ages. 38
24047313 2014
48
Constitutive expression of HCA(2) in human retina and primary human retinal pigment epithelial cells. 38
24215154 2014
49
The β-hydroxybutyrate receptor HCA2 activates a neuroprotective subset of macrophages. 38
24845831 2014
50
Hydroxycarboxylic acid receptor 2 mediates dimethyl fumarate's protective effect in EAE. 38
24691444 2014

Variations for Hypercalciuria, Absorptive, 2

ClinVar genetic disease variations for Hypercalciuria, Absorptive, 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ADCY10 ADCY10, 923C-T single nucleotide variant risk factor
2 ADCY10 ADCY10, 1438+30T-C single nucleotide variant risk factor

Expression for Hypercalciuria, Absorptive, 2

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

Pathways for Hypercalciuria, Absorptive, 2

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

# Super pathways Score Top Affiliating Genes
1 10.82 VDR SLC34A3 CASR

GO Terms for Hypercalciuria, Absorptive, 2

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

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

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

# Name GO ID Score Top Affiliating Genes
1 cellular calcium ion homeostasis GO:0006874 9.26 VDR CASR
2 ion transport GO:0006811 9.26 SLC34A3 KCNJ1 CLDN16 CLCN5
3 chloride transmembrane transport GO:1902476 9.16 CLCN5 CASR
4 excretion GO:0007588 8.8 KCNJ1 CLDN16 CLCN5

Sources for Hypercalciuria, Absorptive, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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