HCA2
MCID: HYP733
MIFTS: 45

Hypercalciuria, Absorptive, 2 (HCA2)

Categories: Gastrointestinal diseases, 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 54
Hypercalciuria 44 70
Hca2 57 72
Hypercalciuria, Familial Idiopathic 57
Hypercalciuria Familial Idiopathic 72
Familial Idiopathic Hypercalciuria 29
Hypercalciuria, Absorptive, Type 2 39
Hypercalciuria Absorptive 2 72
Absorptive Hypercalciuria 36

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

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


Classifications:



External Ids:

OMIM® 57 143870
KEGG 36 H02340
MeSH 44 D053565
MedGen 41 C0342639
SNOMED-CT via HPO 68 263681008 444717006 71938000
UMLS 70 C0020438

Summaries for Hypercalciuria, Absorptive, 2

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 Vitamin D and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and skin, and related phenotypes are hypercalciuria and calcium oxalate nephrolithiasis

UniProtKB/Swiss-Prot : 72 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

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 272)
# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 2, antenatal 32.2 KCNJ1 CASR
2 hypomagnesemia 5, renal, with or without ocular involvement 32.0 KCNJ1 CLDN16
3 bartter syndrome, type 1, antenatal 31.6 KCNJ1 CLDN16 CASR
4 hypophosphatemic rickets, x-linked recessive 31.5 VDR SLC34A3 CLCN5
5 hypocalcemia, autosomal dominant 1 31.4 VDR CLDN16 CASR
6 metaphyseal chondrodysplasia, jansen type 31.3 SLC34A3 CASR
7 bartter syndrome, type 3 31.0 KCNJ1 CLDN16 CASR
8 dent disease 1 30.8 SLC34A3 KCNJ1 CLDN16 CLCN5 CASR
9 bartter disease 30.7 SLC34A3 KCNJ1 CLDN16 CLCN5 CASR
10 hypophosphatemia 30.4 VDR SLC34A3 CLCN5
11 urolithiasis 30.3 VDR CASR
12 hyperparathyroidism 30.3 VDR CASR
13 rickets 30.1 VDR SLC34A3 CLCN5 CASR
14 hypercalcemia, infantile, 1 30.0 VDR CASR
15 hypokalemia 30.0 KCNJ1 CASR
16 secondary hyperparathyroidism 29.9 VDR CASR
17 primary hypomagnesemia 29.9 KCNJ1 CLDN16
18 osteomalacia 29.8 VDR SLC34A3 CLCN5 CASR
19 parathyroid adenoma 29.8 VDR CASR
20 hypoparathyroidism 29.7 VDR CASR
21 renal osteodystrophy 29.7 VDR CASR
22 fanconi syndrome 29.7 SLC34A3 CLCN5
23 bone disease 29.7 VDR SLC34A3 CASR
24 diabetes insipidus, nephrogenic, autosomal 29.4 KCNJ1 CASR
25 pseudohyperkalemia, familial, 2, due to red cell leak 29.4 KCNJ1 CLCN5
26 familial hypocalciuric hypercalcemia 29.4 VDR CLDN16 CASR
27 idiopathic hypercalciuria 29.4 VDR SLC34A3 CLCN5 CASR ADCY10
28 nephrolithiasis, calcium oxalate 29.3 VDR CLDN16 CLCN5 CASR
29 uremia 29.2 VDR CASR
30 cystinuria 29.1 CLDN16 CLCN5 CASR
31 gitelman syndrome 28.9 KCNJ1 CLDN16 CASR
32 nephrolithiasis 28.9 VDR SLC34A3 KCNJ1 CLDN16 CLCN5 CASR
33 nephrocalcinosis 28.6 SLC34A3 KCNJ1 CLDN16 CLCN5 CASR
34 hypercalciuria, absorptive, 1 11.6
35 hypophosphatemic rickets with hypercalciuria, hereditary 11.6
36 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 11.5
37 hypomagnesemia 3, renal 11.5
38 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.5
39 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.2
40 hereditary hypophosphatemic rickets 11.1
41 nephrolithiasis, x-linked recessive, with renal failure 11.1
42 idiopathic infantile hypercalcemia 11.1
43 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria 11.1
44 hypocalciuric hypercalcemia, familial, type i 11.0
45 bartter syndrome, type 5, antenatal, transient 11.0
46 bartter syndrome, type 4b, neonatal, with sensorineural deafness 11.0
47 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 11.0
48 distal renal tubular acidosis 10.9
49 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.9
50 pseudohypoaldosteronism, type iie 10.9

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:

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®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
hypercalciuria
increased erythrocyte-membrane calcium-magnesium-atpase
increased sodium-potassium pump activity

Genitourinary Kidneys:
calcium oxalate nephrolithiasis

Clinical features from OMIM®:

143870 (Updated 20-May-2021)

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 62)
# 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 Calcium, Dietary Phase 4
4 Micronutrients Phase 4
5 Trace Elements Phase 4
6 Nutrients Phase 4
7 Vitamins Phase 4
8 Calciferol Phase 4
9 Vitamin D2 Phase 4
10 Ergocalciferols Phase 4
11
Calcium Nutraceutical Phase 4 7440-70-2 271
12
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
13
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
14
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
15 Adrenocorticotropic Hormone Phase 2, Phase 3
16 Melanocyte-Stimulating Hormones Phase 2, Phase 3
17 Endorphins Phase 2, Phase 3
18 Neurotransmitter Agents Phase 2, Phase 3
19 beta-Endorphin Phase 2, Phase 3
20 potassium phosphate Phase 3
21 Protective Agents Phase 3
22 Anti-Infective Agents Phase 3
23 Hormones Phase 3
24 Hormone Antagonists Phase 3
25 Dihydroxycholecalciferols Phase 3
26 Antifungal Agents Phase 3
27 Cytochrome P-450 Enzyme Inhibitors Phase 3
28
Hydrochlorothiazide Approved, Vet_approved Phase 2 58-93-5 3639
29
Indapamide Approved Phase 2 26807-65-8 3702
30
Rifampicin Approved Phase 2 13292-46-1 5458213 5381226
31
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
32
Amiloride Approved Phase 2 2016-88-8, 2609-46-3 16231
33
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
34
Chlorthalidone Approved Phase 2 77-36-1 2732
35
Polyestradiol phosphate Approved Phase 2 28014-46-2
36
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
37
Alfacalcidol Approved, Nutraceutical Phase 2 41294-56-8 5282181
38 Pharmaceutical Solutions Phase 2
39 Hepcidins Phase 2
40 diuretics Phase 2
41 Chelating Agents Phase 2
42 Anti-Bacterial Agents Phase 2
43 Antitubercular Agents Phase 2
44 Diuretics, Potassium Sparing Phase 2
45 Anticoagulants Phase 2
46 Antibiotics, Antitubercular Phase 2
47 Hydroxycholecalciferols Phase 2
48 Sodium Channel Blockers Phase 2
49 Sodium Chloride Symporter Inhibitors Phase 2
50 Antihypertensive Agents Phase 2

Interventional clinical trials:

(show all 27)
# 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 Does Treatment of Hypovitaminosis D Increase Calcium Absorption? Completed NCT00581828 Phase 4 Vitamin D
4 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
5 Phase III Randomized, Double-Blind Study of Potassium Phosphate Vs Potassium Citrate for Absorptive Hypercalciuria Completed NCT00004284 Phase 3 potassium citrate;potassium phosphate
6 Calcium Nephrolithiasis: Clinical Characteristics and Nutritional Determinants Completed NCT01005082 Phase 2, Phase 3
7 Fluconazole as a New Therapeutic Tool in Hypercalciuric Patients With Increased 1,25(OH)2D Levels Recruiting NCT04495608 Phase 3 Fluconazole;Placebo
8 Cholecalciferol as a Modifier of Serum Hepcidin in Children With Chronic Kidney Disease Completed NCT01532349 Phase 2 Cholecalciferol
9 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
10 Pharmacological Therapy for Calcium Phosphate Urolithiasis Recruiting NCT01754779 Phase 2 Placebo;Indapamide
11 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene Recruiting NCT03301038 Phase 2 Rifampin
12 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
13 Safety and Efficacy of Chlorthalidone to Reduce Urinary Calcium Excretion in Adolescents/Yount Adult With Type 1 Diabetes Terminated NCT03325114 Phase 2 Chlorthalidone
14 The Effects of Estrogen Replacement Therapy in Postmenopausal Women With Hypercalciuria and Low Bone Mass Terminated NCT01928082 Phase 2 Transdermal estradiol
15 Night-time Use of Thiazide Diuretics for Improved Reduction in Stone Risk in Stone Formers With Elevated Urine Calcium Unknown status NCT02711670 chlorthalidone;Hydrochlorothiazide
16 Pilot Study : Effect of Sodium Thiosulfate on Urine Chemistries of Hypercalciuric Stone Formers Completed NCT01088555 Sodium thiosulfate
17 Spironolactone to Decrease Potassium Wasting in Hypercalciuric Patients Treated With Thiazide Diuretics Completed NCT00276289 Spironolactone
18 Determination of RDA for Vitamin D in Caucasian and African American Women Completed NCT00472823
19 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009
20 Preterm Infants and Nephrocalcinosis: Diagnosis and Pathogenesis Completed NCT02438267
21 Comparison of the Impact of Nutritional Treatment vs Hydrochlorothiazide on Bone Mineral Density and Body Composition in Children With Idiopathic Hypercalciuria of the Hospital Infantil de Méxio Federico Gómez Recruiting NCT03951558 Hydrochlorothiazide
22 Prospective Interventional Study of Bone Mineral Density and Vascular Calcifications in the Population of Lithiasis Patients With Idiopathic Hypercalciuria Recruiting NCT04770506
23 Evaluation de l'Impact d'un Mode de supplémentation en Vitamine D (Dose séquentielle vs Dose Quotidienne) Sur l'Incidence de l'Hypercalciurie Chez Des Enfants Des départements du Gard et de l'Hérault agés de 2 à 6 Ans. Etude contrôlée randomisée en 2 Groupes parallèles Recruiting NCT02975492 Cholecalciferol sequential dose;Cholecalciferol daily dose
24 The Impact of Phosphate Metabolism on Healthy Aging Recruiting NCT03771105 Early Phase 1 phosphate
25 Randall's Plaques: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806
26 Stone Disease in Children and Their Families Available NCT00765531
27 Urinary Chemistry and Acid-Base Effects of Potassium Citrate in Children With Idiopathic Hypercalciuria and Urolithiasis Withdrawn NCT00120731 Potassium Citrate;Acetazolamide

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:

40
Bone, Kidney, Skin, Spinal Cord, Heart, Pituitary, Colon

Publications for Hypercalciuria, Absorptive, 2

Articles related to Hypercalciuria, Absorptive, 2:

(show top 50) (show all 209)
# 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. 57 6
11932268 2002
2
Mapping a gene defect in absorptive hypercalciuria to chromosome 1q23.3-q24. 57
10566627 1999
3
Mechanism of hypercalciuria in genetic hypercalciuric rats. Inherited defect in intestinal calcium transport. 57
3183056 1988
4
Abnormal red-cell calcium pump in patients with idiopathic hypercalciuria. 57
2971139 1988
5
"Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. 57
3796683 1987
6
Hereditary hypophosphatemic rickets with hypercalciuria. 57
2983203 1985
7
Idiopathic hypercalciuria: a familial generalized renal hyperexcretory state. 57
6645219 1983
8
Familial absorptive hypercalciuria in a large kindred. 57
7321108 1981
9
Autosomal dominant inheritance of hypercalciuria. 57
7389737 1980
10
Familial idiopathic hypercalciuria. 57
759893 1979
11
Oral dimethyl fumarate induces changes within the peripheral neutrophil compartment of psoriasis patients that are linked with skin improvement. 61
33657656 2021
12
Do dimethyl fumarate and nicotinic acid elicit common, potentially HCA2 -mediated adverse reactions? A combined epidemiological-experimental approach. 61
33605454 2021
13
Role of HCA2 in Regulating Intestinal Homeostasis and Suppressing Colon Carcinogenesis. 61
33708203 2021
14
Niacin protects against abdominal aortic aneurysm formation via GPR109A independent mechanisms: role of NAD+/nicotinamide. 61
31710686 2020
15
Triptolide impairs genome integrity by directly blocking the enzymatic activity of DNA-PKcs in human cells. 61
32574974 2020
16
β-hydroxybutyrate and hydroxycarboxylic acid receptor 2 agonists activate the AKT, ERK and AMPK pathways, which are involved in bovine neutrophil chemotaxis. 61
32719460 2020
17
Commensal-bacteria-derived butyrate promotes the T-cell-independent IgA response in the colon. 61
31858119 2020
18
Subcutaneous administration of β-hydroxybutyrate improves learning and memory of sepsis surviving mice. 61
31853744 2020
19
Nicotinic acid suppresses sebaceous lipogenesis of human sebocytes via activating hydroxycarboxylic acid receptor 2 (HCA2 ). 61
31273921 2019
20
Acipimox Acutely Increases GLP-1 Concentrations in Overweight Subjects and Hypopituitary Patients. 61
30726969 2019
21
Lactate-induced activation of HCA2 improves survival in mice with sepsis. 61
30951370 2019
22
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
23
A method for semi-automated image analysis of HLA class I tumour epithelium expression in rectal cancer. 61
31113192 2019
24
Metabolites of lactic acid bacteria present in fermented foods are highly potent agonists of human hydroxycarboxylic acid receptor 3. 61
31120900 2019
25
Deficiency of metabolite sensing receptor HCA2 impairs the salutary effect of niacin in hemorrhagic shock. 61
30625381 2019
26
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
27
Mobile PEAR transcription factors integrate positional cues to prime cambial growth. 61
30626969 2019
28
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
29
Fatty and hydroxycarboxylic acid receptors: The missing link of immune response and metabolism in cattle. 61
29914687 2018
30
4-Hydroxynonenal-induced GPR109A (HCA2 receptor) activation elicits bipolar responses, Gαi -mediated anti-inflammatory effects and Gβγ -mediated cell death. 61
29473951 2018
31
Dimethyl fumarate downregulates the immune response through the HCA2/GPR109A pathway: Implications for the treatment of multiple sclerosis. 61
29763776 2018
32
A review of the mechanisms of action of dimethylfumarate in the treatment of psoriasis. 61
29603404 2018
33
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
34
Increased infiltration of M2-macrophages, T-cells and PD-L1 expression in high grade leiomyosarcomas supports immunotherapeutic strategies. 61
29308311 2018
35
Hydroxycarboxylic Acid Receptor Ligands Modulate Proinflammatory Cytokine Expression in Human Macrophages and Adipocytes without Affecting Adipose Differentiation. 61
30270326 2018
36
The Immunometabolomic Interface Receptor Hydroxycarboxylic Acid Receptor 2 Mediates the Therapeutic Effects of Dimethyl Fumarate in Autoantibody-Induced Skin Inflammation. 61
30154797 2018
37
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
38
Activated niacin receptor HCA2 inhibits chemoattractant-mediated macrophage migration via Gβγ/PKC/ERK1/2 pathway and heterologous receptor desensitization. 61
28186140 2017
39
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
40
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
41
Pleiotropic effects of niacin: Current possibilities for its clinical use. 61
27749252 2016
42
Activation of the niacin receptor HCA2 reduces demyelination and neurofilament loss, and promotes functional recovery after spinal cord injury in mice. 61
27568840 2016
43
Anti-inflammatory effects of the hydroxycarboxylic acid receptor 2. 61
26773933 2016
44
Expression of HCA2 Receptors in Femoral Epiphysis and Metaphysis of Rats with Dexamethasone-Induced Osteoporosis. 61
27478807 2016
45
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
46
Characterization of the hydroxycarboxylic acid receptor 2 in cats. 61
26164006 2015
47
Affinity and kinetics study of anthranilic acids as HCA2 receptor agonists. 61
25737085 2015
48
Discovery and characterization of GSK256073, a non-flushing hydroxy-carboxylic acid receptor 2 (HCA2) agonist. 61
25773497 2015
49
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
50
Nutritional or pharmacological activation of HCA(2) ameliorates neuroinflammation. 61
25766751 2015

Variations for Hypercalciuria, Absorptive, 2

ClinVar genetic disease variations for Hypercalciuria, Absorptive, 2:

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

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 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 10.82 VDR SLC34A3 CASR
2 10.73 VDR SLC34A3

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 8.96 CLCN5 ADCY10
2 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

Sources for Hypercalciuria, Absorptive, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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