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MCID: RNL007
MIFTS: 50

Renal Tubular Acidosis

Categories: Blood diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Renal Tubular Acidosis

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MalaCards integrated aliases for Renal Tubular Acidosis:

Name: Renal Tubular Acidosis 12 74 52 29 6 15 71
Acidosis, Renal Tubular 43
Acidosis Renal Tubular 54

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Nephrological diseases Blood diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:14219
MeSH 43 D000141
NCIt 49 C28129
SNOMED-CT 67 1776003
ICD10 32 N25.89
UMLS 71 C0001126
Sources

Summaries for Renal Tubular Acidosis

About this section
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, with hemolytic anemia and renal tubular acidosis, distal, autosomal recessive. An important gene associated with Renal Tubular Acidosis is ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Potassium citrate and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include Kidney, bone and liver, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body... more...

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Related Diseases for Renal Tubular Acidosis

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Diseases in the Renal Tubular Acidosis family:

Renal Tubular Acidosis Iii Primary Renal Tubular Acidosis

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

(show top 50) (show all 439)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, with hemolytic anemia 35.2 WDR72 SLC4A1
2 renal tubular acidosis, distal, autosomal recessive 34.9 SLC4A1 FOXI1 ATP6V1B1 ATP6V0A4
3 distal renal tubular acidosis 34.7 WDR72 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
4 hereditary distal renal tubular acidosis 34.2 WDR72 SLC4A1 FOXI1 ATP6V1B1 ATP6V0A4
5 osteopetrosis, autosomal recessive 3 33.4 TCIRG1 SLC4A1 CLCN7 CA2 CA1 ATP6V1B1
6 osteopetrosis 33.1 TCIRG1 CLCN7 CA2
7 nephrocalcinosis 32.1 SLC4A1 SLC26A1 REN OCRL CLCN7 CA2
8 metabolic acidosis 31.8 SLC9A3 SLC4A4 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
9 medullary sponge kidney 31.5 ATP6V1B1 ATP6V0A4
10 hereditary elliptocytosis 31.1 SLC4A2 SLC4A1 ATP6V0A4
11 corneal dystrophy, band-shaped 30.7 SLC9A3 SLC4A7 SLC4A4 SLC4A2
12 endosteal hyperostosis, autosomal dominant 30.5 TCIRG1 CLCN7 CA2
13 autosomal recessive malignant osteopetrosis 30.3 TCIRG1 CLCN7
14 dent disease 1 30.1 SLC9A3 OCRL CLCN7
15 nephrolithiasis, calcium oxalate 30.1 SLC9A3 SLC4A1 SLC26A6 SLC26A1 REN OCRL
16 osteopetrosis, autosomal recessive 1 30.0 TCIRG1 CLCN7 ATP6V1B1 ATP6V0A4
17 renal tubular acidosis, distal, with progressive nerve deafness 13.2
18 slc4a1-associated distal renal tubular acidosis 13.0
19 renal tubular acidosis, distal, autosomal dominant 13.0
20 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 13.0
21 renal tubular acidosis, proximal 13.0
22 renal tubular acidosis iii 12.6
23 primary renal tubular acidosis 12.6
24 renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies 12.6
25 renal tubular acidosis, distal, type 3 12.5
26 neuroaxonal dystrophy renal tubular acidosis 12.5
27 obsolete: neuroaxonal dystrophy-renal tubular acidosis syndrome 12.5
28 autosomal dominant proximal renal tubular acidosis 12.5
29 arthrogryposis, renal dysfunction, and cholestasis 1 11.7
30 hypoparathyroidism, sensorineural deafness, and renal disease 11.7
31 lowe oculocerebrorenal syndrome 11.5
32 glomerulopathy with fibronectin deposits 2 11.5
33 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.5
34 say syndrome 11.3
35 dent disease 2 11.3
36 amelogenesis imperfecta hypoplastic type, ig 11.3
37 childhood myocerebrohepatopathy spectrum 11.3
38 hypokalemia 11.0
39 branchiootic syndrome 1 10.8
40 rickets 10.8
41 osteomalacia 10.8
42 sensorineural hearing loss 10.7
43 fanconi syndrome 10.7
44 periodic paralysis 10.7
45 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
46 sjogren syndrome 10.7
47 bone disease 10.6
48 liver cirrhosis 10.6
49 interstitial nephritis 10.6
50 diabetes insipidus 10.6

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



Diseases related to Renal Tubular Acidosis
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Symptoms & Phenotypes for Renal Tubular Acidosis

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GenomeRNAi Phenotypes related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.98 SLC26A6
2 Decreased viability GR00402-S-2 9.98 ATP6V0A4 ATP6V1B1 ATP6V1B2 ATP6V1C2 CA1 CA2
3 no effect GR00402-S-1 9.62 ATP6V0A4 ATP6V1B1 ATP6V1B2 ATP6V1C2 CA1 CA2

MGI Mouse Phenotypes related to Renal Tubular Acidosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 ATP6V0A4 ATP6V1B2 CA2 CLCN7 OCRL REN
2 homeostasis/metabolism MP:0005376 10.06 ATP6V0A4 ATP6V1B1 CA2 CLCN7 FOXI1 OCRL
3 hearing/vestibular/ear MP:0005377 9.8 ATP6V0A4 ATP6V1B1 ATP6V1B2 FOXI1 SLC12A7 SLC4A2
4 renal/urinary system MP:0005367 9.8 ATP6V0A4 ATP6V1B1 CA2 CLCN7 FOXI1 OCRL
5 skeleton MP:0005390 9.32 ATP6V0A4 ATP6V1B1 CA2 CLCN7 FOXI1 SLC4A2
Sources

Drugs & Therapeutics for Renal Tubular Acidosis

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Potassium citrate Approved, Investigational, Vet_approved Phase 4
2
Sodium citrate Approved, Investigational Phase 4 68-04-2
3
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
4
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
5
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
6
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
7
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
8 Respiratory System Agents Phase 4
9 Citrate Phase 4
10 Expectorants Phase 4
11 Calcium, Dietary Phase 4
12 Chelating Agents Phase 4
13 Anticoagulants Phase 4
14 Natriuretic Agents Phase 4
15 diuretics Phase 4
16 Hormones Phase 4
17 Hormone Antagonists Phase 4
18 Anti-Infective Agents Phase 4
19 Mineralocorticoids Phase 4
20 Antiparasitic Agents Phase 4
21 Mineralocorticoid Receptor Antagonists Phase 4
22 Antiprotozoal Agents Phase 4
23 Antifungal Agents Phase 4
24 Diuretics, Potassium Sparing Phase 4
25 Liposomal amphotericin B Phase 4
26 Anti-Bacterial Agents Phase 4
27
Topiramate Approved 97240-79-4 5284627
28
carbamide peroxide Approved 124-43-6
29
Fludrocortisone Approved, Investigational 127-31-1 31378
30
Furosemide Approved, Vet_approved 54-31-9 3440
31
Acetazolamide Approved, Vet_approved 59-66-5 1986
32
Parathyroid hormone Approved, Investigational 9002-64-6
33
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
34
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
35
Vitamin D3 Approved, Nutraceutical 67-97-0 6221 5280795
36 Hypoglycemic Agents
37 Anti-Inflammatory Agents
38 Sodium Potassium Chloride Symporter Inhibitors
39 Anticonvulsants
40 Carbonic Anhydrase Inhibitors
41 Micronutrients
42 Trace Elements
43 Nutrients
44 Ergocalciferols
45 Vitamins
46 Calciferol
47 Vitamin D2

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 A Randomized, Blank Controlled, Multicenter Clinical Trial of the Effection of Potassium Citrate Extended-release Tablets on Urolithiasis Formation or Recurrence Recruiting NCT03007160 Phase 4 Potassium Citrate Extended-release Tablets
2 Use of Spironolactone for the Prevention of Electrolyte Abnormalities in Patients Treated With Amphotericin B Terminated NCT01843309 Phase 4 Spironolactone 100mg;Spironolactone 200mg;Placebo
3 Calcium Nephrolithiasis: Clinical Characteristics and Nutritional Determinants Completed NCT01005082 Phase 2, Phase 3
4 A Phase 3B Open-Label Extension Of Study B23CS (ARENA 2) Evaluating The Continued Safety And Efficacy Of ADV7103 In Subjects With Primary Distal Renal Tubular Acidosis Recruiting NCT03831152 Phase 3 ADV7103
5 A Phase 3 Multicenter, Randomized, Double-Blinded, Placebo-Controlled Withdrawal Study Evaluating ADV7103 In Pediatric and Adult Subjects With Distal Renal Tubular Acidosis (dRTA) Recruiting NCT03644706 Phase 3 ADV7103;Placebos
6 Renal Tubular Acidosis in Incident Renal Transplant Recipients Unknown status NCT01283880
7 Use of Sodium Bicarbonate to Alkalinize Serum/Urine in Pediatric Patients Treated With Topiramate (Pilot Study) Unknown status NCT03354507
8 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH) Unknown status NCT03268460
9 Study of Renal Transporters and Their Regulators After Renal Transplantation Unknown status NCT00427024
10 Comparison of Furosemide/Fludrocortisone With Ammonium Chloride Loading Test in the Diagnosis of Incomplete dRTA in Kidney Stone Formers Completed NCT01690039 Furosemide-Fludrocortisone-Test (test for urinary acidification)
11 Renal Tubular Acidosis is Highly Prevalent in Critically Ill Patients Completed NCT02392091
12 Mircera In Patients With CKD Stages III-IV Not On Dialysis: Observational, Non-interventional Cohort Study Completed NCT02490514
13 Are Heterozygous Carriers for Hereditary Fructose Intolerance Predisposed to Metabolic Disturbances When Exposed to Fructose? Completed NCT02979106
14 Urinary Chemistry and Acid-Base Effects of Potassium Citrate in Children With Idiopathic Hypercalciuria and Urolithiasis Completed NCT00120731 Potassium Citrate;Acetazolamide
15 Preoperative Vitamin D Status and Efficacy of Therapeutic Vitamin D Supplementation Postoperatively in Bariatric Surgery Patients Completed NCT01385098
16 Stone Disease in Children and Their Families Available NCT00765531
17 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305

Search NIH Clinical Center for Renal Tubular Acidosis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Citric Acid
CITRIC ACID GRANULES
citric acid monohydrate
Citric Acid, Anhydrous
CITRIC ACID,HYDROUS
CITRUS NARINGININE
Sodium Bicarbonate
SODIUM BICARBONATE PWDR

Cochrane evidence based reviews: acidosis, renal tubular

Sources

Genetic Tests for Renal Tubular Acidosis

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Genetic tests related to Renal Tubular Acidosis:

# Genetic test Affiliating Genes
1 Renal Tubular Acidosis 29
Sources

Anatomical Context for Renal Tubular Acidosis

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MalaCards organs/tissues related to Renal Tubular Acidosis:

40
Kidney, Bone, Liver, Testes, Thyroid, Myeloid, 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 Affected by disease, potential therapeutic candidate
Sources

Publications for Renal Tubular Acidosis

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Articles related to Renal Tubular Acidosis:

(show top 50) (show all 2485)
# Title Authors PMID Year
1
Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene. 54 61
20068363 2010
2
Carbonic anhydrase II deficiency a novel mutation. 54 61
19556665 2009
3
Functional significance of channels and transporters expressed in the inner ear and kidney. 54 61
17670895 2007
4
Carbonic anhydrase II in the developing and adult human brain. 54 61
16825953 2006
5
Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome. 54 61
16382316 2006
6
Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. 54 61
15713912 2005
7
Autoantibodies against carbonic anhydrase II are increased in renal tubular acidosis associated with Sjogren syndrome. 54 61
15694905 2005
8
Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification. 54 61
15701991 2005
9
Dent Disease with mutations in OCRL1. 54 61
15627218 2005
10
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation. 54 61
15300855 2004
11
Paralysis Episodes in Carbonic Anhydrase II Deficiency. 54 61
17657093 2003
12
Rapid improvement of osteomalacia by treatment in a case with Sjögren's syndrome, rheumatoid arthritis and renal tubular acidosis type 1. 54 61
11518137 2001
13
Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome. 54 61
11264157 2001
14
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. 54 61
9854053 1998
15
Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency. 54 61
9630052 1998
16
Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy. 54 61
9525974 1998
17
Promoter activity of carbonic anhydrase II regulatory regions in cultured renal proximal tubular cells. 54 61
9674946 1998
18
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. 54 61
9312167 1997
19
Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency: pathogenesis of impaired acidification. 54 61
9323296 1997
20
Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus. 54 61
9150731 1997
21
Recent developments in the understanding of the pathophysiology of osteopetrosis. 54 61
8630510 1996
22
Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients. 54 61
8128957 1994
23
Carbonic anhydrase II deficiency syndrome--clinico-pathological, biochemical and molecular studies. 54 61
7700057 1994
24
[Recent progress in molecular biology of inherited tubular transport abnormalities]. 54 61
1491459 1992
25
[A case of Hashimoto's thyroiditis associated with renal tubular acidosis, Sjögren syndrome and empty sella syndrome]. 54 61
1468597 1992
26
Molecular basis of human carbonic anhydrase II deficiency. 54 61
1542674 1992
27
Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis. 54 61
1959222 1991
28
Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification). 54 61
1925679 1991
29
The excretion of carbonic anhydrase isozymes CA I and CA II in the urine of apparently healthy subjects and in patients with kidney disease. 54 61
2123360 1990
30
Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients. 54 61
2117271 1990
31
Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing. 61
31999492 2020
32
Combination of furosemide and fludrocortisone as a loading test for diagnosis of distal renal tubular acidosis in a pediatric case. 61
31705302 2020
33
Renal aspects of metabolic acid-base disorders in neonates. 61
30456666 2020
34
Defective bicarbonate reabsorption in Kir4.2 potassium channel deficient mice impairs acid-base balance and ammonia excretion. 61
31870500 2020
35
ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis. 61
31733597 2020
36
An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions. 61
31463585 2020
37
Tenofovir disoproxil fumarate-induced distal renal tubular acidosis: A case report. 61
31996094 2020
38
A Novel Compound Heterozygous Mutation in SLC4A1 Gene Causing Severe Hereditary Spherocytosis and Distal Renal Tubular Acidosis. 61
31933135 2020
39
Saccharomyces cerevisiae: First Steps to a Suitable Model System To Study the Function and Intracellular Transport of Human Kidney Anion Exchanger 1. 61
31996424 2020
40
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement. 61
31787496 2020
41
Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition. 61
31935940 2020
42
Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model. 61
31676724 2020
43
Rickets with hypophosphatemia, hypokalemia and normal anion gap metabolic acidosis: not always an easy diagnosis. 61
31969415 2020
44
Characterization of the renal phenotype in RMND1-related mitochondrial disease. 61
31568715 2019
45
Clinical features, genetic background, and outcome in infants with urinary tract infection and type IV renal tubular acidosis. 61
31852011 2019
46
Ibuprofen Overuse Leading to Life-threatening Hypokalemia Associated with Renal Tubular Acidosis in Two Patients. 61
31970034 2019
47
Metabolic alkalosis in patients with distal renal tubular acidosis. 61
31910197 2019
48
Intravenous Fluid Prescription Practices in Critically Ill Children: A Shift in Focus from Natremia to Chloremia? 61
31673457 2019
49
Hyperchloremic normal gap metabolic acidosis. 61
31347344 2019
50
Secondary hypokalemic paralysis with bulbar weakness and reversible electrophysiologic abnormalities: A case report and systematic review. 61
31439490 2019
Sources

Variations for Renal Tubular Acidosis

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ClinVar genetic disease variations for Renal Tubular Acidosis:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CA1 NM_001738.5(CA1):c.368_369del (p.His123fs)deletion Uncertain significance 694733 8:86245835-86245836 8:85333606-85333607
Sources

Expression for Renal Tubular Acidosis

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

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 36
Show member pathways
 12.73 TCIRG1 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
2
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 12.6 TCIRG1 SLC9A3 SLC4A7 SLC4A4 SLC4A2 SLC4A1
3
Ion channel transport 65
Show member pathways
 12.34 TCIRG1 CLCN7 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
4
Insulin receptor recycling 65
Show member pathways
 12.01 TCIRG1 SLC4A1 SLC12A7 CA2 ATP6V1C2 ATP6V1B2
5
Phagosome 36
11.9 TCIRG1 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
6
Synaptic vesicle cycle 36
Show member pathways
 11.77 TCIRG1 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
7
Pancreatic secretion 36
11.66 SLC4A4 SLC4A2 CA2
8
Bile secretion 36
11.56 SLC9A3 SLC4A4 SLC4A2 CA2
9
Rheumatoid arthritis 36
11.52 TCIRG1 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
10
Erythrocytes take up carbon dioxide and release oxygen 65
Show member pathways
 11.18 SLC4A1 CA2 CA1
11
Proximal tubule bicarbonate reclamation 36
10.97 SLC9A3 SLC4A4 CA2
Sources

GO Terms for Renal Tubular Acidosis

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.38 TCIRG1 SLC9A3 SLC4A7 SLC4A4 SLC4A2 SLC4A1
2 plasma membrane GO:0005886 10.21 TCIRG1 SLC9A3 SLC4A7 SLC4A4 SLC4A2 SLC4A1
3 extracellular exosome GO:0070062 10.15 SLC9A3 SLC4A4 SLC4A1 CA2 CA1 ATP6V1C2
4 lysosomal membrane GO:0005765 9.8 TCIRG1 CLCN7 ATP6V1C2 ATP6V1B2 ATP6V0A4
5 apical plasma membrane GO:0016324 9.76 TCIRG1 SLC9A3 SLC4A7 SLC4A2 SLC26A6 ATP6V1B2
6 apical part of cell GO:0045177 9.72 REN CA2 ATP6V0A4
7 phagocytic vesicle membrane GO:0030670 9.7 TCIRG1 OCRL ATP6V0A4
8 microvillus GO:0005902 9.69 CA2 ATP6V1B2 ATP6V1B1
9 brush border membrane GO:0031526 9.63 SLC9A3 SLC26A6 ATP6V0A4
10 basolateral plasma membrane GO:0016323 9.56 SLC4A7 SLC4A4 SLC4A2 SLC4A1 SLC26A6 SLC26A1
11 proton-transporting V-type ATPase, V0 domain GO:0033179 9.54 TCIRG1 ATP6V0A4
12 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.5 TCIRG1 ATP6V1B1 ATP6V0A4
13 cell GO:0005623 9.44 TCIRG1 SLC9A3 SLC4A7 SLC4A4 SLC4A2 SLC4A1
14 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 9.43 TCIRG1 ATP6V0A4
15 proton-transporting V-type ATPase, V1 domain GO:0033180 9.43 ATP6V1C2 ATP6V1B2 ATP6V1B1

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.11 SLC9A3 SLC4A7 SLC4A4 SLC4A2 SLC26A6 SLC26A1
2 ion transmembrane transport GO:0034220 10 TCIRG1 CLCN7 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
3 proton transmembrane transport GO:1902600 9.91 TCIRG1 SLC9A3 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
4 chloride transmembrane transport GO:1902476 9.89 SLC4A1 SLC26A6 SLC26A1 SLC12A7 CLCN7
5 insulin receptor signaling pathway GO:0008286 9.88 TCIRG1 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
6 chloride transport GO:0006821 9.84 SLC4A1 SLC26A6 SLC26A1 CLCN7
7 sodium ion transport GO:0006814 9.81 SLC9A3 SLC4A7 SLC4A4
8 transferrin transport GO:0033572 9.8 TCIRG1 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
9 anion transmembrane transport GO:0098656 9.8 SLC9A3 SLC4A7 SLC4A4 SLC4A2 SLC4A1 SLC26A6
10 ossification GO:0001503 9.79 TCIRG1 ATP6V1B1 ATP6V0A4
11 phagosome acidification GO:0090383 9.77 TCIRG1 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
12 inorganic anion transport GO:0015698 9.76 SLC4A7 SLC4A4 SLC4A2 SLC4A1
13 regulation of macroautophagy GO:0016241 9.75 ATP6V1C2 ATP6V1B2 ATP6V1B1
14 regulation of pH GO:0006885 9.72 SLC9A3 ATP6V1B1 ATP6V0A4
15 anion transport GO:0006820 9.72 SLC4A7 SLC4A4 SLC4A2 SLC4A1 SLC26A6
16 regulation of intracellular pH GO:0051453 9.7 SLC9A3 SLC4A7 SLC4A4 SLC4A2 SLC4A1 SLC26A6
17 potassium ion homeostasis GO:0055075 9.63 SLC12A7 ATP6V1B1
18 sulfate transport GO:0008272 9.63 SLC26A6 SLC26A1
19 sulfate transmembrane transport GO:1902358 9.62 SLC26A6 SLC26A1
20 vacuolar acidification GO:0007035 9.61 TCIRG1 ATP6V0A4
21 enamel mineralization GO:0070166 9.61 WDR72 TCIRG1
22 response to pH GO:0009268 9.6 CLCN7 CA2
23 chloride ion homeostasis GO:0055064 9.59 SLC12A7 ATP6V1B1
24 oxalate transport GO:0019532 9.58 SLC26A6 SLC26A1
25 pH reduction GO:0045851 9.57 TCIRG1 ATP6V1B1
26 positive regulation of dipeptide transmembrane transport GO:2001150 9.56 SLC26A6 CA2
27 bicarbonate transport GO:0015701 9.56 SLC4A7 SLC4A4 SLC4A2 SLC4A1 SLC26A6 SLC26A1
28 ion transport GO:0006811 9.47 TCIRG1 SLC9A3 SLC4A7 SLC4A4 SLC4A2 SLC4A1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.72 SLC4A7 SLC4A4 SLC12A7
2 antiporter activity GO:0015297 9.72 SLC9A3 SLC4A2 SLC26A6 SLC26A1 CLCN7
3 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.71 TCIRG1 ATP6V1C2 ATP6V1B2 ATP6V0A4
4 anion:anion antiporter activity GO:0015301 9.67 SLC4A2 SLC4A1 SLC26A6 SLC26A1
5 bicarbonate transmembrane transporter activity GO:0015106 9.61 SLC4A1 SLC26A6 SLC26A1
6 chloride transmembrane transporter activity GO:0015108 9.56 SLC4A1 SLC26A6 SLC26A1 CLCN7
7 carbonate dehydratase activity GO:0004089 9.54 CA2 CA1
8 sulfate transmembrane transporter activity GO:0015116 9.52 SLC26A6 SLC26A1
9 secondary active sulfate transmembrane transporter activity GO:0008271 9.51 SLC26A6 SLC26A1
10 oxalate transmembrane transporter activity GO:0019531 9.49 SLC26A6 SLC26A1
11 sodium:bicarbonate symporter activity GO:0008510 9.48 SLC4A7 SLC4A4
12 arylesterase activity GO:0004064 9.46 CA2 CA1
13 inorganic anion exchanger activity GO:0005452 9.46 SLC4A7 SLC4A4 SLC4A2 SLC4A1
14 proton transmembrane transporter activity GO:0015078 9.35 TCIRG1 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
15 anion transmembrane transporter activity GO:0008509 9.02 SLC4A7 SLC4A4 SLC4A2 SLC4A1 SLC26A6
Sources

Sources for Renal Tubular Acidosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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