MCID: RNL007
MIFTS: 48

Renal Tubular Acidosis malady

Rare diseases, Nephrological diseases categories

Summaries for Renal Tubular Acidosis

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Disease Ontology:9 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, ad and nephrocalcinosis. 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 sodium bicarbonate and sodium bicarbonate powder 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.

Wikipedia:63 Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body... more...

Aliases & Classifications for Renal Tubular Acidosis

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Renal Tubular Acidosis, Aliases & Descriptions:

Name: Renal Tubular Acidosis 30 9 41 11 60
 
Acidosis Renal Tubular 43


Classifications:

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


External Ids:

Disease Ontology9 DOID:14219
MeSH33 D000141
SNOMED-CT55 1776003
NCIt38 C28129
ICD9CM27 588.89

Related Diseases for Renal Tubular Acidosis

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

(show top 50)    (show all 139)
idRelated DiseaseScoreTop Affiliating Genes
1renal tubular acidosis, distal, ad31.1ATP6V1B1, ATP6V0A4, CA2, SLC4A1
2nephrocalcinosis31.0ATP6V1B1, ATP6V0A4, CA2, SLC4A1
3sensorineural hearing loss30.9ATP6V0A4, ATP6V1B1
4renal tubular acidosis, distal, autosomal recessive30.9SLC4A1, ATP6V0A4, ATP6V1B1
5metabolic acidosis29.9ATP6V1B1, ATP6V0A4, CA2, SLC4A4, SLC4A1
6proximal renal tubular acidosis11.0
7renal tubular acidosis with deafness11.0
8osteopetrosis10.8
9osteopetrosis, autosomal recessive 3, with renal tubular acidosis10.8
10osteomalacia10.8
11renal tubular acidosis, distal, ar10.7
12diabetes insipidus10.7
13primary biliary cirrhosis10.7
14systemic lupus erythematosus10.7
15lupus erythematosus10.7
16renal tubular acidosis, proximal, with ocular abnormalities10.6
17cerebritis10.6
18medullary sponge kidney10.6
19fanconi syndrome10.6
20hyperparathyroidism10.6
21neuroaxonal dystrophy renal tubular acidosis10.6
22nephritis10.6
23sjogren's syndrome10.6
24hypothyroidism10.6
25nephrolithiasis10.5
26respiratory failure10.5
27renal tubular acidosis, distal, type 310.5
28autosomal recessive proximal renal tubular acidosis10.5
29osteoporosis10.5
30hypercalcemia10.5
31thyroiditis10.5
32arthritis10.4
33hepatitis10.4
34cystinosis10.4
35hereditary spherocytosis10.4
36rickets10.4
37primary hyperparathyroidism10.4
38hyperthyroidism10.4
39renal tubular acidosis, distal10.4
40renal tubular acidosis, distal, type 410.4
41autosomal dominant proximal renal tubular acidosis10.4
42distal renal tubular acidosis with anemia10.4
43rheumatoid arthritis10.3
44pyruvate carboxylase deficiency10.3
45fructose intolerance10.3
46amelogenesis imperfecta10.3
47hemolytic anemia10.3
48urethritis10.3
49kearns-sayre syndrome10.3
50hereditary elliptocytosis10.3

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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Genetic Tests for Renal Tubular Acidosis

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Anatomical Context for Renal Tubular Acidosis

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MalaCards organs/tissues related to Renal Tubular Acidosis:

31
Kidney, Bone, Liver, Thyroid, Brain, Colon, Heart, Lung, Testes, Neutrophil

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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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MGI Mouse Phenotypes related to Renal Tubular Acidosis:

35
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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Articles related to Renal Tubular Acidosis:

(show top 50)    (show all 590)
idTitleAuthorsYear
1
Renal tubular acidosis is highly prevalent in critically ill patients. (25888397)
2015
2
Central neurogenic hyperventilation and renal tubular acidosis in children with pontine gliomas. (24532275)
2014
3
ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families. (23923981)
2013
4
Basic research: Salt wasting in distal renal tubular acidosis-new look, old problem. (24189652)
2013
5
Distal renal tubular acidosis: a hereditary disease with an inadequate urinary Ha8_ excretion. (23640117)
2013
6
Erratum to "Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness" (23691405)
2013
7
Distal renal tubular acidosis associated with non-autoimmune hypothyroidism. (22805408)
2012
8
Type 1 renal tubular acidosis in a patient of Type 1 diabetes mellitus: Is it coincidence or coexistence? (22701829)
2012
9
Genetic causes and mechanisms of distal renal tubular acidosis. (23114896)
2012
10
Hypokalaemic paralysis with seemingly pH-neutralized blood gas: liquorice-induced mineralocorticoid effect superimposed on renal tubular acidosis. (22145284)
2011
11
Distal renal tubular acidosis (dRTA) and bone histomorphometry. (21799506)
2011
12
Life-threatening hypokalaemia associated with ibuprofen-induced renal tubular acidosis. (21426288)
2011
13
Systemic lupus erythematosus associated with type 4 renal tubular acidosis: a case report and review of the literature. (21435204)
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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Search GEO for disease gene expression data for Renal Tubular Acidosis.

Pathways for genes affiliated with Renal Tubular Acidosis

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

(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 Pathway36
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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Compounds related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

(show all 19)
idCompoundScoreTop Affiliating Genes
1concanamycin a43 5910.9ATP6V1B1, ATP6V0A4
2bafilomycin a143 59 1211.9ATP6V0A4, ATP6V1B1
3disulfiram43 49 59 1212.8ATP6V1B1, ATP6V0A4
4furosemide43 59 28 49 24 1214.8CA2, SLC4A1
5dids43 2810.7SLC4A1, SLC4A4
6ethoxzolamide43 1210.6SLC4A4, CA2
7acetazolamide43 1210.6CA2, SLC4A4
8sodium bicarbonate43 1210.6SLC4A4, CA2
9oxalate439.5SLC4A1, SLC26A1
10citrate439.4SLC4A1, CA2
11sulfate43 2410.3SLC26A1, SLC4A1
12Water249.2CA2, ATP6V0A4, ATP6V1B1
13hydrogen43 2410.2SLC4A1, CA2, MT-ATP6
14lactate439.1CA2, SLC4A4, SLC4A1
15glutamate438.9SLC4A1, SLC4A4, CA2
16adp43 28 2410.8ATP6V1B1, ATP6V0A4, MT-ATP6
17calcium43 49 24 1211.5SLC4A4, CA2, ATP6V0A4, ATP6V1B1
18bicarbonate438.4SLC4A1, SLC4A4, SLC26A1, CA2
19chloride438.4CA2, SLC26A1, SLC4A4, SLC4A1

GO Terms for genes affiliated with Renal Tubular Acidosis

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

idNameGO IDScoreTop Affiliating Genes
1vacuolar proton-transporting V-type ATPase complexGO:00164719.7ATP6V0A4, ATP6V1B1
2microvillusGO:00059029.5CA2, ATP6V1B1
3apical part of cellGO:00451779.2ATP6V0A4, CA2
4basolateral plasma membraneGO:00163238.7SLC4A1, SLC4A4, CA2, ATP6V1B1
5extracellular vesicular exosomeGO:00700628.1ATP6V1B1, ATP6V0A4, CA2, SLC4A4, SLC4A1
6plasma membraneGO:00058867.6SLC4A1, SLC4A4, SLC26A1, CA2, ATP6V0A4

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1regulation of pHGO:00068859.9ATP6V0A4, ATP6V1B1
2ATP hydrolysis coupled proton transportGO:00159919.9ATP6V0A4, ATP6V1B1
3proton transportGO:00159929.9ATP6V0A4, ATP6V1B1
4transferrin transportGO:00335729.9ATP6V1B1, ATP6V0A4
5interaction with hostGO:00517019.8ATP6V0A4, ATP6V1B1
6phagosome maturationGO:00903829.8ATP6V1B1, ATP6V0A4
7excretionGO:00075889.8ATP6V0A4, ATP6V1B1
8cellular iron ion homeostasisGO:00068799.6ATP6V0A4, ATP6V1B1
9insulin receptor signaling pathwayGO:00082869.6ATP6V0A4, ATP6V1B1
10ossificationGO:00015039.5ATP6V0A4, ATP6V1B1
11chloride transportGO:00068219.4SLC4A1, SLC26A1
12sensory perception of soundGO:00076059.3ATP6V0A4, ATP6V1B1
13chloride transmembrane transportGO:019024769.3SLC26A1, SLC4A1
14bicarbonate transportGO:00157019.2SLC4A1, SLC4A4, CA2
15ion transportGO:00068118.9SLC26A1, SLC4A4, SLC4A1
16transmembrane transportGO:00550858.1SLC4A1, SLC4A4, SLC26A1, ATP6V0A4, ATP6V1B1

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

idNameGO IDScoreTop Affiliating Genes
1hydrogen ion transmembrane transporter activityGO:00150789.6ATP6V0A4, ATP6V1B1
2chloride transmembrane transporter activityGO:00151089.2SLC4A1, SLC26A1
3anion:anion antiporter activityGO:00153019.1SLC4A1, SLC26A1
4inorganic anion exchanger activityGO:00054529.1SLC4A1, SLC4A4

Products for genes affiliated with Renal Tubular Acidosis

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Sources for Renal Tubular Acidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet