MCID: RNL007
MIFTS: 52

Renal Tubular Acidosis

Categories: Rare diseases, Nephrological diseases

Aliases & Classifications for Renal Tubular Acidosis

MalaCards integrated aliases for Renal Tubular Acidosis:

Name: Renal Tubular Acidosis 38 12 76 53 29 15 73
Acidosis, Renal Tubular 44
Acidosis Renal Tubular 55

Classifications:



External Ids:

Disease Ontology 12 DOID:14219
ICD10 33 N25.89
MeSH 44 D000141
NCIt 50 C28129
SNOMED-CT 68 1776003
UMLS 73 C0001126

Summaries for Renal Tubular Acidosis

Disease Ontology : 12 A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine.

MalaCards based summary : Renal Tubular Acidosis, also known as acidosis, renal tubular, is related to renal tubular acidosis, distal, autosomal recessive and renal tubular acidosis, distal. An important gene associated with Renal Tubular Acidosis is ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. The drugs Amphotericin B and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and bone, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia : 76 Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body... more...

Related Diseases for Renal Tubular Acidosis

Diseases in the Renal Tubular Acidosis family:

Renal Tubular Acidosis Iii

Diseases related to Renal Tubular Acidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 192)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, autosomal recessive 34.5 ATP6V0A4 ATP6V1B1 SLC4A1
2 renal tubular acidosis, distal 34.0 ATP6V0A4 ATP6V1B1 CA2 SLC4A1
3 medullary sponge kidney 31.3 ATP6V0A4 ATP6V1B1
4 metabolic acidosis 28.9 ATP6V0A4 ATP6V1B1 CA2 SLC4A1 SLC4A4 SLC9A3
5 pseudohypoaldosteronism 28.5 NR3C2 REN SCNN1G
6 renal tubular acidosis, distal, autosomal dominant 12.7
7 renal tubular acidosis, distal, with progressive nerve deafness 12.7
8 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 12.7
9 slc4a1-associated distal renal tubular acidosis 12.7
10 renal tubular acidosis, distal, with hemolytic anemia 12.6
11 renal tubular acidosis, proximal 12.5
12 osteopetrosis, autosomal recessive 3 12.3
13 renal tubular acidosis, distal, type 3 12.2
14 renal tubular acidosis iii 12.2
15 neuroaxonal dystrophy renal tubular acidosis 12.2
16 renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies 12.1
17 renal tubular acidosis, distal, type 4 12.1
18 autosomal dominant proximal renal tubular acidosis 12.1
19 nephrocalcinosis 11.6
20 hypoparathyroidism, sensorineural deafness, and renal disease 11.4
21 arthrogryposis, renal dysfunction, and cholestasis 1 11.4
22 lowe oculocerebrorenal syndrome 11.2
23 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.2
24 say syndrome 11.0
25 dent disease 2 11.0
26 glomerulopathy with fibronectin deposits 2 11.0
27 amelogenesis imperfecta hypoplastic type, ig 11.0
28 osteopetrosis 10.4
29 sjogren syndrome 10.4
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
31 osteomalacia 10.4
32 diabetes insipidus 10.4
33 diabetes insipidus, nephrogenic, autosomal 10.3
34 systemic lupus erythematosus 10.3
35 fanconi syndrome 10.3
36 lupus erythematosus 10.3
37 biliary cirrhosis, primary, 1 10.3
38 primary biliary cirrhosis 10.3
39 cerebritis 10.3
40 primary biliary cholangitis 10.3
41 meconium ileus 10.3 SLC4A4 SLC9A3
42 hypokalemic periodic paralysis, type 1 10.3
43 sensorineural hearing loss 10.3
44 hypothyroidism 10.3
45 ovalocytosis, southeast asian 10.3
46 bone disease 10.3
47 apnea, obstructive sleep 10.2 REN SLC4A1
48 nephrolithiasis 10.2
49 hyperparathyroidism 10.2
50 diabetes mellitus 10.2

Graphical network of the top 20 diseases related to Renal Tubular Acidosis:



Diseases related to Renal Tubular Acidosis

Symptoms & Phenotypes for Renal Tubular Acidosis

MGI Mouse Phenotypes related to Renal Tubular Acidosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 SLC26A6 SLC4A1 ATP6V0A4 SLC4A4 ATP6V1B1 CA2
2 growth/size/body region MP:0005378 9.91 SLC4A1 ATP6V0A4 SLC4A4 CA2 NR3C2 TCIRG1
3 mortality/aging MP:0010768 9.65 SLC4A1 ATP6V0A4 SLC4A4 CA2 SLC4A7 NR3C2
4 renal/urinary system MP:0005367 9.36 SLC4A1 ATP6V0A4 SLC4A4 ATP6V1B1 CA2 SLC9A3

Drugs & Therapeutics for Renal Tubular Acidosis

Drugs for Renal Tubular Acidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
4 diuretics Phase 4,Not Applicable
5 Natriuretic Agents Phase 4,Not Applicable
6 Anti-Bacterial Agents Phase 4
7 Antifungal Agents Phase 4
8 Anti-Infective Agents Phase 4
9 Antiparasitic Agents Phase 4
10 Antiprotozoal Agents Phase 4
11 Diuretics, Potassium Sparing Phase 4
12 Hormone Antagonists Phase 4
13 Hormones Phase 4
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
15 Liposomal amphotericin B Phase 4
16 Mineralocorticoid Receptor Antagonists Phase 4
17 Mineralocorticoids Phase 4
18 Bone Density Conservation Agents Phase 2, Phase 3
19 Calcium, Dietary Phase 2, Phase 3,Not Applicable
20
Acetazolamide Approved, Vet_approved Not Applicable 59-66-5 1986
21
Potassium Citrate Approved, Investigational, Vet_approved Not Applicable
22
Fludrocortisone Approved, Investigational 127-31-1 31378
23
Furosemide Approved, Vet_approved 54-31-9 3440
24
Topiramate Approved Not Applicable 97240-79-4 5284627
25
Citric Acid Approved, Nutraceutical, Vet_approved Not Applicable 77-92-9 311
26 Antibodies
27 calcitonin
28 Immunoglobulins
29 Anticoagulants Not Applicable
30 Anticonvulsants Not Applicable
31 Carbonic Anhydrase Inhibitors Not Applicable
32 Chelating Agents Not Applicable
33 Expectorants Not Applicable
34 Respiratory System Agents Not Applicable
35 Anti-Inflammatory Agents
36 Sodium Potassium Chloride Symporter Inhibitors
37 Anti-Obesity Agents Not Applicable
38 Neuroprotective Agents Not Applicable
39 Protective Agents Not Applicable
40 Citrate Nutraceutical Not Applicable

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Use of Spironolactone for the Prevention of Electrolyte Abnormalities in Patients Treated With Amphotericin B Terminated NCT01843309 Phase 4 Spironolactone 100mg;Spironolactone 200mg;Placebo
2 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3
3 Renal Tubular Acidosis in Incident Renal Transplant Recipients Unknown status NCT01283880
4 Genetic and Morphological Analysis of Thyrotoxic Periodic Paralysis Unknown status NCT02287363
5 Renal Tubular Acidosis is Highly Prevalent in Critically Ill Patients Completed NCT02392091
6 A Study Of Mircera In Patients With Kidney Disease Who Are Not On Dialysis Completed NCT02490514
7 Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance Completed NCT02979106 Not Applicable
8 Effects of Potassium Citrate in Urine of Children With Elevated Calcium in Urine and Kidney Stones Completed NCT00120731 Not Applicable Potassium Citrate;Acetazolamide
9 Influence of Polymorphisms in the ATP6V1 Gene of the V-ATPase on the Development of Incomplete Distal Renal Tubular Acidosis Recruiting NCT01690039 Furosemide-Fludrocortisone-Test (test for urinary acidification)
10 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital Not yet recruiting NCT03268460
11 Use of Sodium Bicarbonate in Patients Treated With Topiramate Not yet recruiting NCT03354507 Not Applicable
12 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305

Search NIH Clinical Center for Renal Tubular Acidosis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: acidosis, renal tubular

Genetic Tests for Renal Tubular Acidosis

Genetic tests related to Renal Tubular Acidosis:

# Genetic test Affiliating Genes
1 Renal Tubular Acidosis 29

Anatomical Context for Renal Tubular Acidosis

MalaCards organs/tissues related to Renal Tubular Acidosis:

41
Kidney, Bone, Testes, Liver, Thyroid, Colon, Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Renal Tubular Acidosis:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Proximal Tubule Proximal Tubule Cells Potential therapeutic candidate, affected by disease

Publications for Renal Tubular Acidosis

Articles related to Renal Tubular Acidosis:

(show top 50) (show all 700)
# Title Authors Year
1
Distal renal tubular acidosis in two children with acquired hypothyroidism. ( 29716758 )
2018
2
Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families. ( 29573245 )
2018
3
Regional anesthesia is safe and effective for lower limb orthopedic surgery in patient with renal tubular acidosis and hypokalemia. ( 29643635 )
2018
4
Distal renal tubular acidosis in SjAPgren's syndrome. ( 29657223 )
2018
5
Topiramate-Associated Renal Tubular Acidosis. ( 29782342 )
2018
6
Sjogren's with distal renal tubular acidosis complicating pregnancy. ( 29361865 )
2018
7
Hyperammonemia associated with distal renal tubular acidosis or urinary tract infection: a systematic review. ( 29134448 )
2018
8
Anesthetic considerations in a parturient with renal tubular acidosis and hypothyroidism undergoing cesarean delivery. ( 29029882 )
2018
9
Renal Tubular Acidosis an Adverse Effect of PD-1 Inhibitor Immunotherapy. ( 29666732 )
2018
10
Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing. ( 29437164 )
2018
11
Systemic lupus erythematosus with SjAPgren's syndrome and renal tubular acidosis presenting as nephrogenic diabetes insipidus. ( 29657217 )
2018
12
SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report. ( 29914390 )
2018
13
Osteopetrosis with renal tubular acidosis and cerebral calcification. ( 29571443 )
2018
14
Bilateral Proximal Femur Fractures in a Patient with Renal Tubular Acidosis: A Case Report. ( 29725512 )
2018
15
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. ( 29725771 )
2018
16
A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis. ( 29483102 )
2018
17
Molecular mechanisms of cutis laxa and distal renal tubular acidosis-causing mutations in V-ATPase<i>a</i>subunits, ATP6V0A2 and ATP6V0A4. ( 29311258 )
2018
18
Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis. ( 29627839 )
2018
19
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance. ( 29024829 )
2018
20
Targeted Deletion of the Ncoa7 Gene Results in Incomplete Distal Renal Tubular Acidosis in Mice. ( 29384414 )
2018
21
Renal Tubular Acidosis. ( 29093127 )
2017
22
Renal Tubular Acidosis, Osteopetrosis, and Cerebral Calcification: A Rare Syndrome Caused by Carbonic Anhydrase II Deficiency. ( 28761241 )
2017
23
Renal Tubular Acidosis in Patients with Primary SjAPgren's Syndrome. ( 29042903 )
2017
24
Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis. ( 28994037 )
2017
25
Renal tubular acidosis. ( 28092281 )
2017
26
Amelogenesis Imperfecta with Distal Renal Tubular Acidosis: A Novel Syndrome? ( 28553046 )
2017
27
Renal Fanconi syndrome in distal renal tubular acidosis. ( 28293727 )
2017
28
Refining Diagnostic Approaches in Nephrolithiasis: Incomplete Distal Renal Tubular Acidosis. ( 28775128 )
2017
29
Diabetes mellitus and hyperkalemic renal tubular acidosis: case reports and literature review. ( 29319780 )
2017
30
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. ( 28233610 )
2017
31
Tacrolimus-Induced Type IV Renal Tubular Acidosis following Liver Transplantation. ( 28761769 )
2017
32
A Rare Case of Transient Proximal Renal Tubular Acidosis in Pregnancy. ( 29333305 )
2017
33
A Case of Renal Tubular Acidosis with Sjogren's Syndrome Showing Paradoxical Block of PTH Due to Severe Hypomagnesemia. ( 29062185 )
2017
34
I^-COPI mediates the retention of kAE1 G701D protein in Golgi apparatus - a mechanistic explanation of distal renal tubular acidosis associated with the G701D mutation. ( 28646128 )
2017
35
Pathological fracture in SjAPgren's syndrome due to distal renal tubular acidosis. ( 28971585 )
2017
36
Proximal Renal Tubular Acidosis (Fanconi syndrome) Induced by Apremilast: A Case Report. ( 28823583 )
2017
37
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis. ( 29202719 )
2017
38
A child with distal (type 1) renal tubular acidosis presenting with progressive gross motor developmental regression and acute paralysis. ( 29178965 )
2017
39
Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis. ( 28638614 )
2017
40
Clinical and molecular aspects of distal renal tubular acidosis in children. ( 28188436 )
2017
41
Transient Distal Renal Tubular Acidosis in Organophosphate Poisoning. ( 28400690 )
2017
42
Ibuprofen-induced distal (type 1) renal tubular acidosis and hypokalaemia: the dangers of ibuprofen-codeine combination over-the-counter preparations. ( 28580738 )
2017
43
Successful Management of Refractory Type 1 Renal Tubular Acidosis with Amiloride. ( 28127482 )
2017
44
New Findings on the Pathogenesis of Distal Renal Tubular Acidosis. ( 29344504 )
2017
45
Type 3 renal tubular acidosis associated with growth hormone deficiency. ( 28888090 )
2017
46
Furosemide/Fludrocortisone Test and Clinical Parameters to Diagnose Incomplete Distal Renal Tubular Acidosis in Kidney Stone Formers. ( 28775126 )
2017
47
[Clinical features of hereditary distal renal tubular acidosis and SLC4A1 gene mutation]. ( 28407820 )
2017
48
Alport's syndrome with type 4 renal tubular acidosis. ( 28566416 )
2017
49
Clinical analysis of hyperkalemic renal tubular acidosis caused by calcineurin inhibitors in solid organ transplant recipients. ( 27966241 )
2017
50
Late Metabolic Acidosis Caused by Renal Tubular Acidosis in Acute Salicylate Poisoning. ( 27181539 )
2016

Variations for Renal Tubular Acidosis

Expression for Renal Tubular Acidosis

Search GEO for disease gene expression data for Renal Tubular Acidosis.

Pathways for Renal Tubular Acidosis

Pathways related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 ATP6V0A4 ATP6V1B1 SCNN1G SLC26A6 SLC4A1 SLC4A4
2
Show member pathways
12.16 ATP6V0A4 ATP6V1B1 SCNN1G TCIRG1
3
Show member pathways
11.8 ATP6V0A4 ATP6V1B1 CA2 SLC4A1 TCIRG1
4 11.79 ATP6V0A4 ATP6V1B1 TCIRG1
5
Show member pathways
11.64 ATP6V0A4 ATP6V1B1 TCIRG1
6 11.45 ATP6V0A4 ATP6V1B1 TCIRG1
7 11.28 CA2 SLC4A4 SLC9A3
8 11.05 NR3C2 SCNN1G
9
Show member pathways
11 CA2 SLC4A1
10 10.69 CA2 SLC4A4 SLC9A3

GO Terms for Renal Tubular Acidosis

Cellular components related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.99 SCNN1G SLC26A6 SLC4A1 SLC4A4 SLC4A7 TCIRG1
2 apical part of cell GO:0045177 9.63 ATP6V0A4 CA2 REN
3 phagocytic vesicle membrane GO:0030670 9.61 ATP6V0A4 OCRL TCIRG1
4 brush border membrane GO:0031526 9.54 ATP6V0A4 SLC26A6 SLC9A3
5 proton-transporting V-type ATPase, V0 domain GO:0033179 9.48 ATP6V0A4 TCIRG1
6 basolateral plasma membrane GO:0016323 9.43 ATP6V1B1 CA2 SLC26A6 SLC4A1 SLC4A4 SLC4A7
7 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 9.4 ATP6V0A4 TCIRG1
8 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.33 ATP6V0A4 ATP6V1B1 TCIRG1
9 apical plasma membrane GO:0016324 9.17 ATP6V0A4 ATP6V1B1 SCNN1G SLC26A6 SLC4A7 SLC9A3
10 extracellular exosome GO:0070062 10.1 ATP6V0A4 ATP6V1B1 CA2 OCRL SCNN1G SLC4A1
11 membrane GO:0016020 10.07 ATP6V0A4 ATP6V1B1 CA2 NR3C2 OCRL REN
12 plasma membrane GO:0005886 10.06 ATP6V0A4 CA2 OCRL REN SCNN1G SLC26A6

Biological processes related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.89 SLC26A6 SLC4A4 SLC4A7 SLC9A3
2 ion transmembrane transport GO:0034220 9.86 ATP6V0A4 ATP6V1B1 SCNN1G TCIRG1
3 sodium ion transport GO:0006814 9.8 SCNN1G SLC4A4 SLC4A7 SLC9A3
4 insulin receptor signaling pathway GO:0008286 9.72 ATP6V0A4 ATP6V1B1 TCIRG1
5 excretion GO:0007588 9.71 ATP6V0A4 ATP6V1B1 SCNN1G
6 proton transmembrane transport GO:1902600 9.71 ATP6V0A4 ATP6V1B1 SLC9A3 TCIRG1
7 inorganic anion transport GO:0015698 9.7 SLC4A1 SLC4A4 SLC4A7
8 transferrin transport GO:0033572 9.69 ATP6V0A4 ATP6V1B1 TCIRG1
9 ATP hydrolysis coupled proton transport GO:0015991 9.63 ATP6V0A4 ATP6V1B1 TCIRG1
10 anion transmembrane transport GO:0098656 9.62 SLC26A6 SLC4A1 SLC4A4 SLC4A7
11 phagosome acidification GO:0090383 9.61 ATP6V0A4 ATP6V1B1 TCIRG1
12 ion transport GO:0006811 9.61 ATP6V0A4 ATP6V1B1 SCNN1G SLC26A6 SLC4A1 SLC4A4
13 ATP synthesis coupled proton transport GO:0015986 9.58 ATP6V0A4 TCIRG1
14 vacuolar acidification GO:0007035 9.58 ATP6V0A4 TCIRG1
15 vacuolar proton-transporting V-type ATPase complex assembly GO:0070072 9.57 ATP6V0A4 TCIRG1
16 anion transport GO:0006820 9.56 SLC26A6 SLC4A1 SLC4A4 SLC4A7
17 bicarbonate transport GO:0015701 9.55 CA2 SLC26A6 SLC4A1 SLC4A4 SLC4A7
18 regulation of pH GO:0006885 9.54 ATP6V0A4 ATP6V1B1 SLC9A3
19 positive regulation of dipeptide transmembrane transport GO:2001150 9.48 CA2 SLC26A6
20 regulation of intracellular pH GO:0051453 9.1 CA2 SLC26A6 SLC4A1 SLC4A4 SLC4A7 SLC9A3

Molecular functions related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anion:anion antiporter activity GO:0015301 9.43 SLC26A6 SLC4A1
2 proton transmembrane transporter activity GO:0015078 9.43 ATP6V0A4 ATP6V1B1 TCIRG1
3 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.4 ATP6V0A4 TCIRG1
4 bicarbonate transmembrane transporter activity GO:0015106 9.37 SLC26A6 SLC4A1
5 sodium:bicarbonate symporter activity GO:0008510 9.33 SLC4A1 SLC4A4 SLC4A7
6 chloride transmembrane transporter activity GO:0015108 9.32 SLC26A6 SLC4A1
7 inorganic anion exchanger activity GO:0005452 9.26 SLC26A6 SLC4A1 SLC4A4 SLC4A7
8 anion transmembrane transporter activity GO:0008509 8.92 SLC26A6 SLC4A1 SLC4A4 SLC4A7

Sources for Renal Tubular Acidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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