MCID: RNL007
MIFTS: 57

Renal Tubular Acidosis malady

Rare diseases, Nephrological diseases categories

Summaries for Renal Tubular Acidosis

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66Wikipedia, 34MalaCards
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Wikipedia:66 Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body... more...

MalaCards: Renal Tubular Acidosis, also known as acidosis renal tubular, is related to nephrocalcinosis and renal tubular acidosis, distal, autosomal recessive. An important gene associated with Renal Tubular Acidosis is ATP6V1B1 (ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1), and among its related pathways are Insulin receptor signalling cascade and Phagosome. The drugs citric acid and sodium bicarbonate and the compounds concanamycin a and bafilomycin a1 have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and liver, and related mouse phenotypes are taste/olfaction and skeleton.

Aliases & Classifications for Renal Tubular Acidosis

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 63UMLS, 46Novoseek, 36MeSH, 59SNOMED-CT, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Nephrological diseases


Aliases & Descriptions:

renal tubular acidosis 9 44 11 63
acidosis renal tubular 46
renal tubule acidosis 9


External Ids:

Disease Ontology9 DOID:14219
MeSH36 D000141
SNOMED-CT59 1776003
NCIt41 C28129

Related Diseases for Renal Tubular Acidosis

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18GeneCards, 19GeneDecks
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Diseases in the Renal Tubular Acidosis family:

Primary Renal Tubular Acidosis

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

(show top 50)    (show all 139)
idRelated DiseaseScoreTop Affiliating Genes
1nephrocalcinosis31.3ATP6V1B1, ATP6V0A4, CA2, SLC4A1
2renal tubular acidosis, distal, autosomal recessive31.0SLC4A1, ATP6V0A4, ATP6V1B1
3sensorineural hearing loss31.0ATP6V0A4, ATP6V1B1
4renal tubular acidosis, distal30.8ATP6V1B1, ATP6V0A4, CA2, SLC4A1
5metabolic acidosis30.5ATP6V1B1, ATP6V0A4, CA2, SLC4A4, SLC4A1
6glaucoma30.4SLC4A4, CA2
7renal tubular acidosis with progressive nerve deafness10.9
8osteopetrosis10.8
9osteomalacia10.7
10primary renal tubular acidosis10.7
11diabetes insipidus10.7
12nephrogenic diabetes insipidus10.7
13proximal renal tubular acidosis with ocular abnormalities10.7
14primary biliary cirrhosis10.7
15systemic lupus erythematosus10.7
16hypokalemic periodic paralysis10.7
17lupus erythematosus10.7
18renal tubular acidosis, distal, autosomal dominant10.7
19fanconi syndrome10.6
20cerebritis10.6
21medullary sponge kidney10.6
22renal tubular acidosis, distal, ad10.6
23neuroaxonal dystrophy renal tubular acidosis10.6
24osteopetrosis, autosomal recessive 3, with renal tubular acidosis10.6
25nephritis10.6
26nephrolithiasis10.5
27sjogren's syndrome10.5
28hyperparathyroidism10.5
29hypothyroidism10.5
30respiratory failure10.5
31renal tubular acidosis, distal, type 310.5
32hypercalcemia10.5
33diabetes mellitus10.5
34osteoporosis10.5
35thyroiditis10.5
36erythrocytosis10.5
37cystinosis10.4
38hereditary spherocytosis10.4
39arthritis10.4
40hepatitis10.4
41hyperthyroidism10.4
42osteopetrosis autosomal recessive 310.4
43renal tubular acidosis, distal, with hemolytic anemia10.4
44renal tubular acidosis, distal, ar10.4
45urethritis10.3
46amelogenesis imperfecta10.3
47hereditary elliptocytosis10.3
48rickets10.3
49type 1 diabetes mellitus10.3
50hypokalemia10.3

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



Diseases related to renal tubular acidosis

Symptoms for Renal Tubular Acidosis

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Drugs & Therapeutics for Renal Tubular Acidosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Renal Tubular Acidosis

Drug clinical trials:

Search ClinicalTrials for Renal Tubular Acidosis

Search NIH Clinical Center for Renal Tubular Acidosis

Search CenterWatch for Renal Tubular Acidosis

Inferred drug relations via UMLS63/NDF-RT42:

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Genetic Tests for Renal Tubular Acidosis

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Anatomical Context for Renal Tubular Acidosis

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Sources:
32LifeMap Discoveryā„¢, 34MalaCards
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MalaCards organs/tissues related to Renal Tubular Acidosis:

34
Kidney, Bone, Liver, Thyroid, Brain, Colon, Heart, Lung, Testes

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Renal Tubular Acidosis:
id TissueAnatomical CompartmentCell Relevance
1 KidneyProximal TubuleProximal Tubule Cells Potential therapeutic candidate, affected by disease

Animal Models for Renal Tubular Acidosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Renal Tubular Acidosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.6ATP6V0A4, ATP6V1B1
2MP:00053908.2SLC4A4, CA2, ATP6V0A4, ATP6V1B1
3MP:00053677.3SLC4A1, SLC4A4, SLC26A1, CA2, ATP6V0A4, ATP6V1B1
4MP:00053767.2ATP6V1B1, ATP6V0A4, CA2, SLC26A1, SLC4A4, SLC4A1

Publications for Renal Tubular Acidosis

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53PubMed
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Articles related to Renal Tubular Acidosis:

(show top 50)    (show all 547)
idTitleAuthorsYear
1
ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families. (23923981)
2013
2
Basic research: Salt wasting in distal renal tubular acidosis-new look, old problem. (24189652)
2013
3
Distal renal tubular acidosis: a hereditary disease with an inadequate urinary Ha8_ excretion. (23640117)
2013
4
Erratum to "Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness" (23691405)
2013
5
Distal renal tubular acidosis associated with non-autoimmune hypothyroidism. (22805408)
2012
6
Type 1 renal tubular acidosis in a patient of Type 1 diabetes mellitus: Is it coincidence or coexistence? (22701829)
2012
7
Genetic causes and mechanisms of distal renal tubular acidosis. (23114896)
2012
8
Hypokalaemic paralysis with seemingly pH-neutralized blood gas: liquorice-induced mineralocorticoid effect superimposed on renal tubular acidosis. (22145284)
2011
9
Distal renal tubular acidosis (dRTA) and bone histomorphometry. (21799506)
2011
10
Life-threatening hypokalaemia associated with ibuprofen-induced renal tubular acidosis. (21426288)
2011
11
Systemic lupus erythematosus associated with type 4 renal tubular acidosis: a case report and review of the literature. (21435204)
2011
12
Renal tubular acidosis due to Wilson's disease presenting as metabolic bone disease. (22688476)
2011
13
Hyperkalemic distal renal tubular acidosis caused by immunosuppressant treatment with tacrolimus in a liver transplant patient: case report. (22172892)
2011
14
Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis. (20221774)
2010
15
Topological location and structural importance of the NBCe1-A residues mutated in proximal renal tubular acidosis. (20197274)
2010
16
Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis. (20028337)
2010
17
Renal tubular acidosis and superior mesenteric artery syndrome. (22752559)
2010
18
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. (19364879)
2009
19
Severe hypophosphatemic osteomalacia with Fanconi syndrome, renal tubular acidosis, vitamin D deficiency and primary biliary cirrhosis. (19252361)
2009
20
Distal renal tubular acidosis and immune-mediated hemolytic anemia in 3 dogs. (19909430)
2009
21
HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities. (18520110)
2008
22
Type 1 (distal) renal tubular acidosis in a patient with Type 1 diabetes mellitus--not all cases of metabolic acidosis in Type 1 diabetes mellitus are due to diabetic ketoacidosis. (18199141)
2008
23
Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand. (17533027)
2007
24
Combined renal tubular acidosis and diabetes insipidus in hematological disease. (17322929)
2007
25
Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). (16636648)
2006
26
Pemetrexed-induced acute renal failure, nephrogenic diabetes insipidus, and renal tubular acidosis in a patient with non-small cell lung cancer. (17018900)
2006
27
Type 1 renal tubular acidosis in a broodmare. (16627119)
2006
28
Secondary erythrocytosis associated with distal renal tubular acidosis. (15571188)
2004
29
Coeliac disease associated with SjAPgren's syndrome, renal tubular acidosis, primary biliary cirrhosis and autoimmune hyperthyroidism. (15285530)
2004
30
Renal tubular acidosis: a new look at an old problem. (11681819)
2001
31
Hereditary distal renal tubular acidosis: new understandings. (11160790)
2001
32
Bone mineral density and histology in distal renal tubular acidosis. (11231364)
2001
33
Hypercalcemia in neonatal distal renal tubular acidosis. (10775085)
2000
34
A case of hyperkalemic distal renal tubular acidosis secondary to tacrolimus in living donor liver transplantation. (11120143)
2000
35
Incomplete renal tubular acidosis in 'primary' osteoporosis. (11095178)
2000
36
Distal renal tubular acidosis and high urine carbon dioxide tension in a patient with southeast Asian ovalocytosis. (10352205)
1999
37
Type IV renal tubular acidosis and uric acid nephrolithiasis in William's syndrome--an unusual mode of renal involvement. (9249793)
1997
38
A novel neurological disorder with progressive CNS calcification, deafness, renal tubular acidosis, and microcytic anemia. (9112970)
1997
39
Dimercaptosuccinic acid distribution in renal tubular acidosis. (9505851)
1997
40
Renal tubular acidosis with muscle paralysis. (9529855)
1997
41
Prevalence of endemic distal renal tubular acidosis and renal stone in the northeast of Thailand. (8730429)
1996
42
The spectrum of endemic renal tubular acidosis in the northeast of Thailand. (8938678)
1996
43
Renal tubular acidosis in children with vesicoureteral reflux. (8648800)
1996
44
Trimethoprim-sulfamethoxazole-induced renal tubular acidosis in a patient with AIDS. (7620045)
1995
45
Light-chain-induced renal tubular acidosis: effect of sodium bicarbonate on sodium-proton exchange. (7724027)
1995
46
Persistent isolated proximal renal tubular acidosis--a systemic disease with a distinct clinical entity. (8142230)
1994
47
Osteomalacia secondary to renal tubular acidosis in a patient with primary SjAPgren's syndrome. (1764843)
1991
48
Type I primary hyperoxaluria associated with type I renal tubular acidosis. (3449474)
1987
49
Lymphoid interstitial pneumonia with associated chronic active hepatitis and renal tubular acidosis. (835885)
1977
50
Fanconi syndrome with renal tubular acidosis and light chain proteinuria. (5155597)
1971

Variations for Renal Tubular Acidosis

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Expression for genes affiliated with Renal Tubular Acidosis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Renal Tubular Acidosis

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

Pathways for genes affiliated with Renal Tubular Acidosis

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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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Pathways related to Renal Tubular Acidosis according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6ATP6V0A4, ATP6V1B1
29.6ATP6V0A4, ATP6V1B1
3
Show member pathways
Synaptic Vesicle Pathway39
9.6ATP6V0A4, ATP6V1B1
49.6ATP6V1B1, ATP6V0A4
5
Show member pathways
9.5SLC4A1, CA2
6
Show member pathways
9.3CA2, SLC4A4
79.3SLC4A4, CA2
89.3SLC4A4, CA2
9
Show member pathways
9.1MT-ATP6, ATP6V0A4, ATP6V1B1
10
Show member pathways
8.7SLC4A1, CA2, ATP6V0A4, ATP6V1B1
11
Show member pathways
7.8ATP6V1B1, ATP6V0A4, SLC26A1, SLC4A4, SLC4A1
12
Show member pathways
7.4ATP6V1B1, ATP6V0A4, MT-ATP6, CA2, SLC26A1, SLC4A1

Compounds for genes affiliated with Renal Tubular Acidosis

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46Novoseek, 62Tocris Bioscience, 12DrugBank, 52PharmGKB, 30IUPHAR, 25HMDB
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Compounds related to Renal Tubular Acidosis according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1concanamycin a46 6210.9ATP6V1B1, ATP6V0A4
2bafilomycin a146 62 1211.9ATP6V0A4, ATP6V1B1
3disulfiram46 52 62 1212.8ATP6V1B1, ATP6V0A4
4furosemide46 62 30 52 25 1214.8CA2, SLC4A1
5dids46 3010.7SLC4A1, SLC4A4
6ethoxzolamide46 1210.6SLC4A4, CA2
7acetazolamide46 1210.6CA2, SLC4A4
8sodium bicarbonate46 1210.6SLC4A4, CA2
9oxalate469.5SLC4A1, SLC26A1
10citrate469.4SLC4A1, CA2
11sulfate46 2510.3SLC26A1, SLC4A1
12Water259.2CA2, ATP6V0A4, ATP6V1B1
13hydrogen46 2510.2SLC4A1, CA2, MT-ATP6
14lactate469.1CA2, SLC4A4, SLC4A1
15glutamate468.9SLC4A1, SLC4A4, CA2
16adp46 30 2510.8ATP6V1B1, ATP6V0A4, MT-ATP6
17calcium46 52 25 1211.5SLC4A4, CA2, ATP6V0A4, ATP6V1B1
18bicarbonate468.4SLC4A1, SLC4A4, SLC26A1, CA2
19chloride468.4CA2, SLC26A1, SLC4A4, SLC4A1

GO Terms for genes affiliated with Renal Tubular Acidosis

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17Gene Ontology
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Cellular components related to Renal Tubular Acidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vacuolar proton-transporting V-type ATPase complexGO:0164719.7ATP6V0A4, ATP6V1B1
2microvillusGO:0059029.5CA2, ATP6V1B1
3apical part of cellGO:0451779.2ATP6V0A4, CA2
4basolateral plasma membraneGO:0163238.7SLC4A1, SLC4A4, CA2, ATP6V1B1
5extracellular vesicular exosomeGO:0700628.1ATP6V1B1, ATP6V0A4, CA2, SLC4A4, SLC4A1
6plasma membraneGO:0058867.6SLC4A1, SLC4A4, SLC26A1, CA2, ATP6V0A4

Biological processes related to Renal Tubular Acidosis according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1regulation of pHGO:0068859.9ATP6V0A4, ATP6V1B1
2ATP hydrolysis coupled proton transportGO:0159919.9ATP6V0A4, ATP6V1B1
3proton transportGO:0159929.9ATP6V0A4, ATP6V1B1
4transferrin transportGO:0335729.9ATP6V1B1, ATP6V0A4
5interaction with hostGO:0517019.8ATP6V0A4, ATP6V1B1
6phagosome maturationGO:0903829.8ATP6V1B1, ATP6V0A4
7excretionGO:0075889.8ATP6V0A4, ATP6V1B1
8cellular iron ion homeostasisGO:0068799.6ATP6V0A4, ATP6V1B1
9insulin receptor signaling pathwayGO:0082869.6ATP6V0A4, ATP6V1B1
10ossificationGO:0015039.5ATP6V0A4, ATP6V1B1
11chloride transportGO:0068219.4SLC4A1, SLC26A1
12sensory perception of soundGO:0076059.3ATP6V0A4, ATP6V1B1
13chloride transmembrane transportGO:19024769.3SLC26A1, SLC4A1
14bicarbonate transportGO:0157019.2SLC4A1, SLC4A4, CA2
15ion transportGO:0068118.9SLC26A1, SLC4A4, SLC4A1
16transmembrane transportGO:0550858.1SLC4A1, SLC4A4, SLC26A1, ATP6V0A4, ATP6V1B1

Molecular functions related to Renal Tubular Acidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hydrogen ion transmembrane transporter activityGO:0150789.6ATP6V0A4, ATP6V1B1
2chloride transmembrane transporter activityGO:0151089.2SLC4A1, SLC26A1
3anion:anion antiporter activityGO:0153019.1SLC4A1, SLC26A1
4inorganic anion exchanger activityGO:0054529.1SLC4A1, SLC4A4

Products for genes affiliated with Renal Tubular Acidosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Renal Tubular Acidosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet