MCID: RNL007
MIFTS: 57

Renal Tubular Acidosis malady

Nephrological category

Summaries for Renal Tubular Acidosis

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 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 renal tubular acidosis, distal 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 Multifunctional anion exchangers and O2/CO2 exchange in erythrocytes. The drugs citric acid and sodium bicarbonate and the compounds Methyclothiazide and u 104 have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and kidney, and related mouse phenotypes are renal/urinary system and growth/size.

Aliases & Classifications for Renal Tubular Acidosis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 61UMLS, 45Novoseek, 57SNOMED-CT, 35MeSH, 40NCIt
See all sources

Classifications:

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


Aliases & Descriptions:

renal tubular acidosis 8 43 10 61
acidosis renal tubular 45
renal tubule acidosis 8


External Ids:

Disease Ontology8 DOID:14219
MeSH35 D000141
SNOMED-CT57 1776003
NCIt40 C28129

Related Diseases for Renal Tubular Acidosis

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 131)
idRelated DiseaseScoreTop Affiliating Genes
1renal tubular acidosis, distal32.0AMBP, CA2, ATP6V0A4, ATP6V1B1, DNAH8, SLC4A1
2nephrocalcinosis31.4ATP6V0A4, ATP6V1B1, SLC4A1, CA2
3renal tubular acidosis, distal, autosomal recessive31.2ATP6V0A4, ATP6V1B1, SLC4A1
4osteopetrosis31.1TCIRG1, SLC4A2, DNAH8, CA2
5metabolic acidosis30.9CA2, SCNN1G, ATP6AP1, ATP6V0A4, ATP6V1B1, SLC4A1
6nephrolithiasis30.7SLC26A6, SLC26A1
7arthritis30.6AMBP
8primary hyperoxaluria30.4AMBP, DNAH8
9hereditary elliptocytosis30.4SLC4A2, SLC4A1
10primary renal tubular acidosis11.0
11hyperkalemic renal tubular acidosis10.8
12renal tubular acidosis, distal, autosomal dominant10.8
13renal tubular acidosis, distal, ad10.7
14osteomalacia10.7
15fanconi syndrome10.7
16n syndrome10.7
17diabetes insipidus10.7
18nephrogenic diabetes insipidus10.7
19primary biliary cirrhosis10.6
20systemic lupus erythematosus10.6
21hypokalemic periodic paralysis10.6
22proximal renal tubular acidosis with ocular abnormalities10.6
23sensorineural hearing loss10.6
24medullary sponge kidney10.6
25neuroaxonal dystrophy renal tubular acidosis10.6
26sjogren's syndrome10.6
27ovalocytosis, southeast asian10.6
28osteopetrosis, autosomal recessive 3, with renal tubular acidosis10.6
29nephritis10.6
30renal tubular acidosis, distal, type 310.5
31renal tubular acidosis with deafness10.5
32renal tubular acidosis, distal, ar10.5
33hypercalcemia10.5
34osteoporosis10.5
35thyroiditis10.5
36primary tubular proximal acidosis10.5
37erythrocytosis10.5
38hepatitis c10.4
39primary hyperparathyroidism10.4
40cystinosis10.4
41hereditary spherocytosis10.4
42hepatitis a10.4
43renal tubular acidosis progressive nerve deafness10.4
44osteopetrosis with renal tubular acidosis10.4
45renal tubular acidosis, distal, with hemolytic anemia10.4
46hypothyroidism, autoimmune10.4
47focal segmental glomerulosclerosis10.3
48hypophosphatemia10.3
49hypoparathyroidism10.3
50amelogenesis imperfecta10.3

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



Diseases related to renal tubular acidosis

Clinical Features for Renal Tubular Acidosis

Drugs & Therapeutics for Renal Tubular Acidosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

Show with subtypes

Genetic Tests for Renal Tubular Acidosis

Anatomical Context for Renal Tubular Acidosis

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Renal Tubular Acidosis:

33
Liver, Brain, Kidney, Lung, Heart, Colon, Thyroid, T cells, B lymphoblasts, B cells

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Renal Tubular Acidosis

Sources:
51PubMed
See all sources

Articles related to Renal Tubular Acidosis:

(show top 50)    (show all 565)
idTitleAuthorsYear
1
The dental management of troublesome twos: renal tubular acidosis and rampant caries. (23667245)
2013
2
Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency? (23640632)
2013
3
Type 1 renal tubular acidosis in a patient of Type 1 diabetes mellitus: Is it coincidence or coexistence? (22701829)
2012
4
Biopsy-proven type 1 renal tubular acidosis in a patient with metabolic acidosis. (22403514)
2012
5
Dental aspect of distal tubular renal acidosis with genu valgum secondary to rickets: a case report. (22567455)
2012
6
Hyperkalemic distal renal tubular acidosis caused by immunosuppressant treatment with tacrolimus in a liver transplant patient: case report. (22172892)
2011
7
Topological location and structural importance of the NBCe1-A residues mutated in proximal renal tubular acidosis. (20197274)
2010
8
Renal tubular acidosis secondary to capecitabine, oxaliplatin, and cetuximab treatment in a patient with metastatic colon carcinoma: a case report and review of the literature. (20217448)
2010
9
Molecular Approach for Distal Renal Tubular Acidosis Associated AE1 Mutations. (21468194)
2010
10
A case of distal renal tubular acidosis, Southeast Asian ovalocytosis and possible fluorosis. (19391452)
2009
11
Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness. (19478356)
2009
12
HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities. (18520110)
2008
13
Distal renal tubular acidosis due to primary hyperparathyroidism. (19158053)
2008
14
Induction of anti-carbonic-anhydrase-II antibody causes renal tubular acidosis in a mouse model of Sjogren's syndrome. (17622741)
2007
15
Renal tubular acidosis. (16736441)
2006
16
Primary SjAP-gren's syndrome presenting with distal, renal tubular acidosis and rhabdomyolysis. (17334013)
2006
17
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. (15930088)
2005
18
Primary gradient defect distal renal tubular acidosis presenting as hypokalaemic periodic paralysis. (15983101)
2005
19
Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review. (16155421)
2005
20
Distal renal tubular acidosis. (15021201)
2004
21
A case of distal renal tubular acidosis (type 1) presenting with musculoskeletal pain. (15163835)
2004
22
High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis. (14618420)
2003
23
Renal tubular acidosis: a new look at an old problem. (11681819)
2001
24
Systemic lupus erythematosus presenting initially as hydrogen ATPase pump defects of distal renal tubular acidosis. (11041297)
2000
25
Osteomalacia secondary to renal tubular acidosis masquerading as primary biliary cirrhosis. (11136892)
2000
26
Distal renal tubular acidosis and high urine carbon dioxide tension in a patient with southeast Asian ovalocytosis. (10352205)
1999
27
Pregnancy and renal tubular acidosis. (10458532)
1999
28
Renal tubular acidosis with muscle paralysis. (9529855)
1997
29
Renal tubular acidosis. (9255303)
1997
30
Preservation of intercalated cell H(+)-ATPase in two patients with lupus nephritis and hyperkalemic distal renal tubular acidosis. (9219160)
1997
31
Renal tubular acidosis. (8692251)
1996
32
Urolithiasis and distal renal tubular acidosis preceding primary SjAPgren's syndrome: a retrospective study 5-53 years after the presentation of urolithiasis. (8656141)
1996
33
Renal tubular acidosis complicated with hypokalemic periodic paralysis. (7575850)
1995
34
Renal tubular acidosis in the Silver-Russell syndrome. (7625441)
1995
35
Renal tubular acidosis following treatment with foscarnet. (8605068)
1995
36
Renal tubular acidosis with autoantibody directed to renal collecting-duct cells. (7969339)
1994
37
Hashimoto thyroiditis, distal renal tubular acidosis, pernicious anaemia and encephalopathy: a rare combination of auto-immune disorders in a 12-year-old girl. (8157029)
1994
38
Renal tubular acidosis in Papua New Guinea. (7863728)
1994
39
Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria. (1335358)
1992
40
Why does renal tubular acidosis cause hypercalciuria? (1571209)
1992
41
Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis. (1959222)
1991
42
Aniridia/glaucoma and Wilms tumor in a sibship with renal tubular acidosis and sensory nerve deafness. (2835970)
1987
43
Varied types of urinary calculi in a patient with cystinosis without renal tubular acidosis. (3737307)
1986
44
Proximal renal tubular acidosis in methylmalonic acidemia. (4020528)
1985
45
A case of Fanconi syndrome with type 1 renal tubular acidosis. (7299995)
1981
46
A case of renal tubular acidosis with secondary hyperparathyroidism, lipemia and aminoaciduria with review of Japanese literature. (4459115)
1974
47
Primary renal tubular acidosis recognized and treated at three days of age. A case report illustrating the value of routine postmortem examination. (4701463)
1973
48
An experimental renal acidification defect in patients with hereditary fructose intolerance. II. Its distinction from classic renal tubular acidosis; its resemblance to the renal acidification defect associated with the Fanconi syndrome of children with cystinosis. (5658593)
1968
49
PINK DISEASE AND PRIMARY RENAL TUBULAR ACIDOSIS. (14219149)
1964
50
Nephrocalcinosis with special reference to its occurrence in renal tubular acidosis. (14491967)
1962

Genetic Variations for Renal Tubular Acidosis

Expression for genes affiliated with Renal Tubular Acidosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
See all sources

Pathways related to Renal Tubular Acidosis according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3SLC26A6, SLC26A1
2
Hide members
10.3CA4, SLC4A1, CA2
310.3SLC4A4, CA4, CA2
410.3SLC4A1, SLC4A2, SLC4A4
510.3SLC4A4, SLC4A2, CA2
610.3SLC4A2, CA2, SLC4A4
7
Hide members
10.3CA14, CA2, CA4
810.2TCIRG1, ATP6AP1, ATP6V0A4, ATP6V0D1
910.2ATP6V0D1, ATP6V0A4, TCIRG1, ATP6AP1
10
Hide members
10.2SLC4A4, SLC4A1, SLC4A2, SLC26A6, SLC26A1
1110.0ATP6V0D1, ATP6V0A4, ATP6V1G3, ATP6V1G2, ATP6V1B1, TCIRG1
12
Hide members
10.0ATP6V0D1, ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V1B1, TCIRG1
1310.0ATP6V1G3, ATP6V1G2, ATP6V1B1, ATP6V0D1, SLC26A1, TCIRG1
149.9ATP6V1G2, ATP6AP1, ATP6V1G3, ATP6V0A4, ATP6V0D1, ATP6V1B1
159.9TCIRG1, ATP6V1G3, ATP6AP1, ATP6V0A4, ATP6V1G2, ATP6V0D1
16
Hide members
9.8ATP6AP1, ATP6V1G2, ATP6V0A4, ATP6V1G3, CA2, ATP6V0D1
17
Hide members
9.8ATP6AP1, ATP6V1G2, TCIRG1, MT-CO3, MT-ATP6, ATP6V1B1
18
Hide members
9.7ATP6V1B1, MT-ATP6, CA14, CA2, CA4, ATP6AP1
19
Hide members
9.6ATP6V0D1, SCNN1G, ATP6V1G3, ATP6V0A4, ATP6V1B1, SLC4A2

Compounds for genes affiliated with Renal Tubular Acidosis

Sources:
11DrugBank, 60Tocris Bioscience, 45Novoseek, 29IUPHAR, 24HMDB
See all sources

Compounds related to Renal Tubular Acidosis according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1Methyclothiazide1110.7CA4, CA2
2u 1046010.7CA4, CA2
3ethoxzolamide45 1111.7CA4, SLC4A4, CA2
4chlorothiazide29 1111.7CA4, CA2
5stilbene4510.7SLC4A2, SLC4A1
6sodium bicarbonate45 1111.7CA2, CA4, SLC4A4
7dids45 2911.7SLC4A4, SLC4A2, SLC4A1
8Benzthiazide1110.7CA2, CA4
9dorzolamide45 1111.7CA4, CA2
10Trichlormethiazide1110.7CA4, CA2
11sulfonamide4510.7CA14, CA2, CA4
12ellagic acid45 60 1112.6CA4, CA2, CA14
13brinzolamide45 1111.6CA4, CA2
14dichlorphenamide45 1111.6CA2, CA4
15zonisamide45 1111.6CA14, CA4, CA2
16acetazolamide45 1111.6CA4, CA2, CA14, SLC4A4
17bendroflumethiazide45 1111.6CA2, CA4
18Hydroflumethiazide1110.6CA2, CA4
19sulfate45 2411.6SLC26A1, SLC4A1, SLC4A2, AMBP
20naoh4510.6SLC4A1, AMBP
21methazolamide45 1111.6CA2, CA4
22amiloride45 29 1112.5SLC4A2, SCNN1G, CA2
23cyclothiazide29 45 1112.5CA2, CA4
24disulfiram45 60 1112.5ATP6V0D1, ATP6V1B1, ATP6V1G2, ATP6V0A4, ATP6V1G3
25chloride4510.5CA4, CA2, SLC4A1, SLC4A2, SLC26A1, SLC4A4
26hydrogen45 2411.5SLC4A1, DNAH8, MT-ATP6, CA4, CA2
27oxalate4510.5SLC4A1, SLC26A1
28sodium45 2411.5AMBP, SLC4A2, SLC4A4, CA4, SLC4A1, SCNN1G
29concanamycin a45 6011.4ATP6V1G2, ATP6V1G3, ATP6V0D1, ATP6V0A4, DNAH8, ATP6V1B1
30bafilomycin a145 60 1112.4ATP6V0A4, ATP6V1G2, ATP6V0D1, ATP6V1G3, DNAH8, ATP6V1B1
31carbon dioxide45 2411.4CA14, CA4, CA2
32atp45 2911.4DNAH8, ATP6AP1, SLC4A1, CA2, SLC4A2, MT-CO3
33bicarbonate4510.4SLC4A4, CA2, CA4, ATP6AP1, SLC4A1, SLC4A2
34sodium dodecylsulfate4510.3CA4, AMBP, CA2
35oligomycin4510.3MT-ATP6, DNAH8
36Adenosine triphosphate11 2411.3ATP6V0A4, ATP6V1G3, TCIRG1, ATP6V1G2, ATP6AP1, ATP6V1B1
37citrate4510.3SLC4A1, MT-CO3, CA2
38topiramate45 11 2412.3CA2, CA4
39adp45 29 2412.2ATP6V1G3, TCIRG1, DNAH8, ATP6V0A4, MT-ATP6, ATP6V1B1
40potassium45 11 2411.9AMBP, ATP6AP1, SLC4A1, SLC4A4

GO Terms for genes affiliated with Renal Tubular Acidosis

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1proton-transporting V-type ATPase, V1 domainGO:03318010.3ATP6V1B1, ATP6AP1
2brush border membraneGO:03152610.3CA4, ATP6V0A4, SLC26A6
3vacuolar proton-transporting V-type ATPase complexGO:01647110.3ATP6V1B1, ATP6V0D1, ATP6V1G2, ATP6V0A4, ATP6V1G3
4vacuolar proton-transporting V-type ATPase, V0 domainGO:00022010.3TCIRG1, ATP6V0A4
5basolateral plasma membraneGO:01632310.2CA2, CA4, ATP6V1B1, SLC4A1, SLC4A2, SLC26A6
6apical plasma membraneGO:01632410.1CA4, SCNN1G, ATP6V0A4, ATP6V0D1, ATP6V1B1, SLC26A6
7phagocytic vesicle membraneGO:03067010.0TCIRG1, ATP6V0D1, ATP6V0A4
8plasma membraneGO:0058869.7AMBP, CA14, CA2, CA4, SCNN1G, ATP6V1G3

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of dipeptide transmembrane transportGO:200115010.5CA2, SLC26A6
2angiotensin-mediated signaling pathwayGO:03816610.5SLC26A6, CA2
3chloride transportGO:00682110.5SLC4A1, SLC26A6, SLC26A1
4oxalate transportGO:01953210.4SLC26A1, SLC26A6
5excretionGO:00758810.4ATP6V0A4, ATP6V1B1, SCNN1G
6proton transportGO:01599210.4ATP6V0D1, ATP6V0A4, ATP6AP1, TCIRG1, ATP6V1B1
7ATP hydrolysis coupled proton transportGO:01599110.4TCIRG1, ATP6V1B1, ATP6V0D1, ATP6V0A4, ATP6AP1
8ion transportGO:00681110.4SLC26A6, SLC4A1, SLC4A4, SLC26A1, SLC4A2
9regulation of pHGO:00688510.4ATP6V1B1, ATP6V0A4
10regulation of intracellular pHGO:05145310.4CA2, SLC26A6
11transferrin transportGO:03357210.3ATP6V0A4, TCIRG1, ATP6V1B1, ATP6V0D1, ATP6V1G2, ATP6V1G3
12interaction with hostGO:05170110.3ATP6V1G3, TCIRG1, ATP6V1B1, ATP6V1G2, ATP6V0A4, ATP6V0D1
13bicarbonate transportGO:01570110.3SLC26A6, CA14, CA2, CA4, SLC4A1, SLC4A2
14phagosome maturationGO:09038210.3ATP6V0A4, ATP6V1G2, ATP6V0D1, TCIRG1, ATP6V1G3, ATP6V1B1
15cellular iron ion homeostasisGO:00687910.3TCIRG1, ATP6V1B1, ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V0D1
16insulin receptor signaling pathwayGO:00828610.3ATP6V0A4, ATP6V1G2, ATP6V0D1, ATP6V1B1, TCIRG1, ATP6V1G3
17anion transportGO:00682010.2SLC4A1, SLC4A2
18sulfate transportGO:00827210.0SLC26A1, SLC26A6
19transmembrane transportGO:05508510.0SCNN1G, ATP6V0A4, TCIRG1, SLC26A6, SLC4A4, SLC26A1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1anion:anion antiporter activityGO:01530110.5SLC4A1, SLC26A6, SLC26A1
2chloride transmembrane transporter activityGO:01510810.4SLC26A1, SLC26A6, SLC4A2, SLC4A1
3inorganic anion exchanger activityGO:00545210.4SLC4A4, SLC4A2, SLC4A1
4carbonate dehydratase activityGO:00408910.4CA14, CA2, CA4
5hydrogen-exporting ATPase activity, phosphorylative mechanismGO:00855310.4ATP6V1G3, ATP6V1G2, ATP6V0D1
6hydrogen ion transmembrane transporter activityGO:01507810.4TCIRG1, ATP6V1B1, ATP6V0A4
7oxalate transmembrane transporter activityGO:01953110.3SLC26A6, SLC26A1
8sulfate transmembrane transporter activityGO:01511610.3SLC26A1, SLC26A6
9anion transmembrane transporter activityGO:00850910.2SLC4A1, SLC4A2
10secondary active sulfate transmembrane transporter activityGO:00827110.0SLC26A1, SLC26A6

Products for genes affiliated with Renal Tubular Acidosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Renal Tubular Acidosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet