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MCID: RNL007
MIFTS: 52

Renal Tubular Acidosis

Categories: Blood diseases, Metabolic 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 73 20 36 29 6 15 70
Acidosis, Renal Tubular 44
Acidosis Renal Tubular 54

Classifications:

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


External Ids:

Disease Ontology 12 DOID:14219
KEGG 36 H02310
MeSH 44 D000141
NCIt 50 C28129
SNOMED-CT 67 1776003
ICD10 32 N25.89
UMLS 70 C0001126
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Summaries for Renal Tubular Acidosis

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KEGG : 36 Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA can be subcategorized into different disorders. Distal RTA (type 1) arises when the collecting duct fails to remove excess acid into the urine. Proximal RTA (type 2) is caused by an impairment of bicarbonate reabsorption in the proximal tubules. RTA type 3 is a mixed type that shares the features of both proximal and distal lesions. RTA type 4 is a heterogeneous group of disorders associated with hyperkalemia due to aldosterone deficiency or impairment in aldosterone molecular signaling.

MalaCards based summary : Renal Tubular Acidosis, also known as acidosis, renal tubular, is related to renal tubular acidosis, distal, 3, with or without sensorineural hearing loss and renal tubular acidosis, distal, 4, with hemolytic anemia. An important gene associated with Renal Tubular Acidosis is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)), and among its related pathways/superpathways are Proximal tubule bicarbonate reclamation and Collecting duct acid secretion. The drugs Sodium citrate and Potassium 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

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.

Wikipedia : 73 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 423)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 33.3 SLC4A1 ATP6V1B1 ATP6V0A4
2 renal tubular acidosis, distal, 4, with hemolytic anemia 33.2 WDR72 SLC4A1
3 distal renal tubular acidosis 33.1 SLC4A1 CA2 ATP6V1C2 ATP6V1B1 ATP6V0A4
4 osteopetrosis, autosomal recessive 3 32.7 TCIRG1 SLC4A4 SLC4A1 CA2 CA1 ATP6V1B1
5 autosomal recessive distal renal tubular acidosis 32.5 SLC4A2 SLC4A1 FOXI1 ATP6V1G3 ATP6V1C2 ATP6V1B1
6 nephrocalcinosis 32.4 SLC4A1 OCRL CA2 ATP6V1B1 ATP6V0A4
7 hereditary distal renal tubular acidosis 32.4 WDR72 SLC4A1 FOXI1 ATP6V1B1 ATP6V0A4
8 osteopetrosis 32.3 TCIRG1 CA2 ATP6V1B1
9 metabolic acidosis 31.8 SLC9A3 SLC4A4 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
10 hereditary elliptocytosis 31.4 SLC4A1 ATP6V1B1 ATP6V0A4
11 fanconi syndrome 31.3 SLC9A3 SLC4A4 OCRL
12 nephrolithiasis 31.3 SLC4A1 SLC26A6 SLC26A1 ATP6V1B1 ATP6V0A4
13 medullary sponge kidney 31.2 ATP6V1B1 ATP6V0A4
14 corneal dystrophy, band-shaped 30.7 SLC9A3 SLC4A7 SLC4A4 CA2
15 osteopetrosis, autosomal recessive 1 30.3 TCIRG1 ATP6V1B1 ATP6V0A4
16 bartter disease 29.9 SLC9A3 SLC12A7 REN ATP6V1B1
17 renal tubular acidosis with deafness 12.1
18 slc4a1-associated distal renal tubular acidosis 12.0
19 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss 11.9
20 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 11.9
21 renal tubular acidosis, proximal 11.9
22 renal tubular acidosis, distal, 1 11.8
23 autosomal dominant distal renal tubular acidosis 11.8
24 renal tubular acidosis iii 11.5
25 renal tubular acidosis, distal, type 3 11.5
26 neuroaxonal dystrophy renal tubular acidosis 11.5
27 distal renal tubular acidosis with hemolytic anemia 11.4
28 primary renal tubular acidosis 11.3
29 lowe oculocerebrorenal syndrome 11.3
30 glomerulopathy with fibronectin deposits 2 11.3
31 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.3
32 renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies 11.3
33 autosomal dominant proximal renal tubular acidosis 11.2
34 arthrogryposis, renal dysfunction, and cholestasis 1 11.2
35 hypoparathyroidism, sensorineural deafness, and renal disease 11.2
36 say syndrome 11.1
37 dent disease 2 11.1
38 amelogenesis imperfecta hypoplastic type, ig 11.1
39 childhood myocerebrohepatopathy spectrum 11.1
40 hypokalemia 11.0
41 branchiootic syndrome 1 10.9
42 rickets 10.8
43 osteomalacia 10.8
44 sensorineural hearing loss 10.8
45 periodic paralysis 10.7
46 sjogren syndrome 10.7
47 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
48 bone disease 10.7
49 interstitial nephritis 10.7
50 liver cirrhosis 10.7

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 9.77 SLC26A6
2 Decreased viability GR00249-S 9.77 CA2 FOXI1 SLC26A6 SLC4A2 SLC4A7
3 Decreased viability GR00386-A-1 9.77 ATP6V1B2 FOXI1 SLC4A4 SLC4A7 SLC9A3 TCIRG1
4 Decreased viability GR00402-S-2 9.77 TCIRG1
5 Increased the percentage of infected cells GR00402-S-1 8.32 FOXI1

MGI Mouse Phenotypes related to Renal Tubular Acidosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 ATP6V0A4 ATP6V1B1 ATP6V1B2 CA2 FOXI1 OCRL
2 hearing/vestibular/ear MP:0005377 9.8 ATP6V0A4 ATP6V1B1 ATP6V1B2 FOXI1 SLC12A7 SLC4A2
3 renal/urinary system MP:0005367 9.77 ATP6V0A4 ATP6V1B1 CA2 FOXI1 OCRL REN
4 skeleton MP:0005390 9.28 ATP6V0A4 ATP6V1B1 CA2 FOXI1 SLC4A2 SLC4A4
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 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 3 68-04-2
2
Potassium citrate Approved, Investigational, Vet_approved Phase 3 866-84-2
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
4 diuretics Phase 3
5 Respiratory System Agents Phase 3
6 Citrate Phase 3
7 Expectorants Phase 3
8
carbamide peroxide Approved 124-43-6
9
Topiramate Approved 97240-79-4 5284627
10
Fludrocortisone Approved, Investigational 127-31-1 31378
11
Furosemide Approved, Vet_approved 54-31-9 3440
12 Calcium, Dietary
13 Sodium Potassium Chloride Symporter Inhibitors
14 Anti-Inflammatory Agents
15
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Active, not recruiting NCT03831152 Phase 3 ADV7103
2 A Phase 3 Multicenter, Randomized, Double-Blinded, Placebo-Controlled Withdrawal Study Evaluating ADV7103 In Pediatric and Adult Subjects With Distal Renal Tubular Acidosis (dRTA) Active, not recruiting NCT03644706 Phase 3 ADV7103;Placebo
3 Renal Tubular Acidosis in Incident Renal Transplant Recipients Unknown status NCT01283880
4 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH) Unknown status NCT03268460
5 Use of Sodium Bicarbonate to Alkalinize Serum/Urine in Pediatric Patients Treated With Topiramate (Pilot Study) Unknown status NCT03354507
6 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)
7 Renal Tubular Acidosis is Highly Prevalent in Critically Ill Patients Completed NCT02392091
8 Mircera In Patients With CKD Stages III-IV Not On Dialysis: Observational, Non-interventional Cohort Study Completed NCT02490514

Search NIH Clinical Center for Renal Tubular Acidosis

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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

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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
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Anatomical Context for Renal Tubular Acidosis

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MalaCards organs/tissues related to Renal Tubular Acidosis:

40
Kidney, Bone, Liver, Eye, Myeloid, Bone Marrow, Small Intestine
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
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Publications for Renal Tubular Acidosis

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Articles related to Renal Tubular Acidosis:

(show top 50) (show all 2573)
# 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. 61 54
15713912 2005
7
Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification. 61 54
15701991 2005
8
Dent Disease with mutations in OCRL1. 61 54
15627218 2005
9
Autoantibodies against carbonic anhydrase II are increased in renal tubular acidosis associated with Sjogren syndrome. 61 54
15694905 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. 61 54
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. 61 54
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. 61 54
9630052 1998
16
Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy. 61 54
9525974 1998
17
Promoter activity of carbonic anhydrase II regulatory regions in cultured renal proximal tubular cells. 54 61
9674946 1998
18
Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency: pathogenesis of impaired acidification. 61 54
9323296 1997
19
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. 61 54
9312167 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. 61 54
8630510 1996
22
Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients. 61 54
8128957 1994
23
Carbonic anhydrase II deficiency syndrome--clinico-pathological, biochemical and molecular studies. 61 54
7700057 1994
24
[Recent progress in molecular biology of inherited tubular transport abnormalities]. 61 54
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). 61 54
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. 61 54
2117271 1990
31
Osteomalacia caused by atypical renal tubular acidosis with vitamin D deficiency: a case report. 61
33398781 2021
32
Republished: Omeprazole-induced hypomagnesaemia, causing renal tubular acidosis with hypokalaemia, hypocalcaemia, hyperlactacidaemia and hyperammonaemia. 61
33766923 2021
33
Phenotypic variability in distal acidification defects associated with WDR72 mutations. 61
33033857 2021
34
A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family. 61
33555497 2021
35
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment. 61
33770395 2021
36
Growth failure and metabolic acidosis due to total body sodium depletion in an infant with an ileostomy. 61
33766972 2021
37
Familial distal renal tubular acidosis. 61
33726529 2021
38
[Renal tubular distal acidosis: nephrocalcinosis as initial diagnosis.] 61
33650542 2021
39
Renal Disease in Primary Sjögren's Syndrome. 61
33367966 2021
40
Large spontaneous steinstrasse: Our experience and management issues in tertiary care centre. 61
33719767 2021
41
Outcome of primary tubular tubulopathies diagnosed in pediatric age. 61
33358363 2021
42
Renal Tubular Acidosis and Management Strategies: A Narrative Review. 61
33367987 2021
43
Safety, efficacy, and acceptability of ADV7103 during 24 months of treatment: an open-label study in pediatric and adult patients with distal renal tubular acidosis. 61
33635379 2021
44
Genotypic analysis of SLC4A1 A858D mutation in Indian population associated with distal renal tubular Acidosis (dRTA) coupled with hemolytic anemia. 61
33068675 2021
45
[Nephrocalcinosis in children]. 61
33461896 2021
46
Membranous nephropathy with masked polyclonal IgG deposits associated with primary Sjögren's syndrome. 61
32770308 2021
47
Severe Hypokalemia Secondary to Transient Distal Renal Tubular Acidosis in a Previously Healthy Woman. 61
33500865 2021
48
Outcome of Tyrosinemia Type 1 in Indian Children. 61
33679043 2021
49
Distar Renal Tubular Acidosis (dRTA): Epidemiological, diagnostics, clinical follow-up and therapeutical issues. Nephrologists cohort survey outcome. 61
33012565 2021
50
Medical management of urolithiasis. 61
33459616 2021
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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 Position
1 SLC4A1 NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) SNV Pathogenic 17764 rs121912745 GRCh37: 17:42333076-42333076
GRCh38: 17:44255708-44255708
2 ATP6V1B1 NM_001692.4(ATP6V1B1):c.79C>T (p.Gln27Ter) SNV Likely pathogenic 988216 GRCh37: 2:71163163-71163163
GRCh38: 2:70936033-70936033
3 SLC4A1 NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg) SNV Likely pathogenic 235293 rs878853002 GRCh37: 17:42332640-42332640
GRCh38: 17:44255272-44255272
4 SLC4A1 NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile) SNV Uncertain significance 988235 GRCh37: 17:42328568-42328568
GRCh38: 17:44251200-44251200
5 SLC4A1 NM_000342.4(SLC4A1):c.2385G>A (p.Met795Ile) SNV Uncertain significance 988236 GRCh37: 17:42328883-42328883
GRCh38: 17:44251515-44251515
6 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1181G>A (p.Arg394Gln) SNV Uncertain significance 852567 GRCh37: 2:71191605-71191605
GRCh38: 2:70964475-70964475
7 CA1 NM_001128831.4(CA1):c.368_369del (p.His123fs) Deletion Uncertain significance 694733 rs768769200 GRCh37: 8:86245835-86245836
GRCh38: 8:85333606-85333607
8 HADHB NM_000183.3(HADHB):c.110-2324G>C SNV Uncertain significance 830363 GRCh37: 2:26483924-26483924
GRCh38: 2:26261056-26261056
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 KEGG:

36
# Name Kegg Source Accession
1 Proximal tubule bicarbonate reclamation hsa04964
2 Collecting duct acid secretion hsa04966
3 Aldosterone-regulated sodium reabsorption hsa04960

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.92 TCIRG1 SLC4A1 SLC26A1 OCRL CA2 CA1
2
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 65
Show member pathways
 13.17 TCIRG1 REN ATP6V1G3 ATP6V1C2 ATP6V1B2 ATP6V1B1
3
PI3K-Akt signaling pathway 36
Show member pathways
 12.79 TCIRG1 ATP6V1G3 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
4
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
5
Ion channel transport 65
Show member pathways
 12.34 TCIRG1 ATP6V1G3 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
6
mTOR signaling pathway (KEGG) 36
Show member pathways
 12.28 ATP6V1G3 ATP6V1C2 ATP6V1B2 ATP6V1B1
7
Insulin receptor recycling 65
Show member pathways
 12.06 TCIRG1 SLC4A1 SLC12A7 CA2 ATP6V1G3 ATP6V1C2
8
Phagosome 36
11.98 TCIRG1 ATP6V1G3 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
9
Synaptic vesicle cycle 36
Show member pathways
 11.85 TCIRG1 ATP6V1G3 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
10
Bile secretion 36
11.66 SLC9A3 SLC4A4 SLC4A2 CA2
11
Rheumatoid arthritis 36
11.6 TCIRG1 ATP6V1G3 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
12
Erythrocytes take up carbon dioxide and release oxygen 65
Show member pathways
 11.18 SLC4A1 CA2 CA1
13
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 14)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.41 TCIRG1 SLC9A3 SLC4A7 SLC4A4 SLC4A2 SLC4A1
2 plasma membrane GO:0005886 10.2 TCIRG1 SLC9A3 SLC4A7 SLC4A4 SLC4A2 SLC4A1
3 extracellular exosome GO:0070062 10.09 SLC9A3 SLC4A4 SLC4A1 CA2 CA1 ATP6V1C2
4 lysosomal membrane GO:0005765 9.83 TCIRG1 ATP6V1C2 ATP6V1B2 ATP6V0A4
5 apical part of cell GO:0045177 9.69 REN CA2 ATP6V0A4
6 phagocytic vesicle membrane GO:0030670 9.65 TCIRG1 OCRL ATP6V0A4
7 microvillus GO:0005902 9.63 CA2 ATP6V1B2 ATP6V1B1
8 brush border membrane GO:0031526 9.58 SLC9A3 SLC26A6 ATP6V0A4
9 apical plasma membrane GO:0016324 9.56 TCIRG1 SLC9A3 SLC4A7 SLC4A2 SLC26A6 ATP6V1B2
10 proton-transporting V-type ATPase, V0 domain GO:0033179 9.49 TCIRG1 ATP6V0A4
11 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.46 TCIRG1 ATP6V1G3 ATP6V1B1 ATP6V0A4
12 proton-transporting V-type ATPase, V1 domain GO:0033180 9.43 ATP6V1C2 ATP6V1B2 ATP6V1B1
13 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 9.37 TCIRG1 ATP6V0A4
14 basolateral plasma membrane GO:0016323 9.23 SLC4A7 SLC4A4 SLC4A2 SLC4A1 SLC26A6 SLC26A1

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.11 SLC9A3 SLC4A7 SLC4A4 SLC4A2 SLC4A1 SLC26A6
2 ion transmembrane transport GO:0034220 10 TCIRG1 ATP6V1G3 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
3 proton transmembrane transport GO:1902600 9.95 TCIRG1 SLC9A3 ATP6V1G3 ATP6V1C2 ATP6V1B2 ATP6V1B1
4 insulin receptor signaling pathway GO:0008286 9.93 TCIRG1 ATP6V1G3 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
5 chloride transmembrane transport GO:1902476 9.85 SLC4A1 SLC26A6 SLC26A1 SLC12A7
6 transferrin transport GO:0033572 9.85 TCIRG1 ATP6V1G3 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
7 anion transport GO:0006820 9.83 SLC4A7 SLC4A4 SLC4A2 SLC4A1 SLC26A6
8 sodium ion transport GO:0006814 9.82 SLC9A3 SLC4A7 SLC4A4
9 ossification GO:0001503 9.8 TCIRG1 ATP6V1B1 ATP6V0A4
10 inorganic anion transport GO:0015698 9.8 SLC4A7 SLC4A4 SLC4A2 SLC4A1
11 phagosome acidification GO:0090383 9.8 TCIRG1 ATP6V1G3 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
12 anion transmembrane transport GO:0098656 9.8 SLC9A3 SLC4A7 SLC4A4 SLC4A2 SLC4A1 SLC26A6
13 sodium ion transmembrane transport GO:0035725 9.79 SLC9A3 SLC4A7 SLC4A4
14 ion homeostasis GO:0050801 9.78 SLC4A7 SLC4A4 SLC4A2 SLC4A1
15 chloride transport GO:0006821 9.77 SLC4A1 SLC26A6 SLC26A1
16 regulation of macroautophagy GO:0016241 9.75 ATP6V1C2 ATP6V1B2 ATP6V1B1
17 regulation of pH GO:0006885 9.71 SLC9A3 ATP6V1B1 ATP6V0A4
18 regulation of intracellular pH GO:0051453 9.7 SLC9A3 SLC4A7 SLC4A4 SLC4A2 SLC4A1 SLC26A6
19 sulfate transmembrane transport GO:1902358 9.64 SLC26A6 SLC26A1
20 potassium ion homeostasis GO:0055075 9.63 SLC12A7 ATP6V1B1
21 sulfate transport GO:0008272 9.63 SLC26A6 SLC26A1
22 vacuolar acidification GO:0007035 9.61 TCIRG1 ATP6V0A4
23 enamel mineralization GO:0070166 9.61 WDR72 TCIRG1
24 chloride ion homeostasis GO:0055064 9.6 SLC12A7 ATP6V1B1
25 oxalate transport GO:0019532 9.58 SLC26A6 SLC26A1
26 pH reduction GO:0045851 9.57 TCIRG1 ATP6V1B1
27 positive regulation of dipeptide transmembrane transport GO:2001150 9.56 SLC26A6 CA2
28 bicarbonate transport GO:0015701 9.56 SLC4A7 SLC4A4 SLC4A2 SLC4A1 SLC26A6 SLC26A1
29 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 18)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.85 SLC4A7 SLC4A4 SLC4A2 SLC4A1 SLC12A7
2 symporter activity GO:0015293 9.74 SLC4A7 SLC4A4 SLC12A7
3 ATPase binding GO:0051117 9.7 TCIRG1 ATP6V1G3 ATP6V0A4
4 antiporter activity GO:0015297 9.67 SLC9A3 SLC4A2 SLC26A6 SLC26A1
5 anion:anion antiporter activity GO:0015301 9.62 SLC4A2 SLC4A1 SLC26A6 SLC26A1
6 chloride transmembrane transporter activity GO:0015108 9.61 SLC4A1 SLC26A6 SLC26A1
7 hydro-lyase activity GO:0016836 9.58 CA2 CA1
8 bicarbonate transmembrane transporter activity GO:0015106 9.58 SLC4A1 SLC26A6 SLC26A1
9 sulfate transmembrane transporter activity GO:0015116 9.56 SLC26A6 SLC26A1
10 inorganic anion exchanger activity GO:0005452 9.56 SLC4A7 SLC4A4 SLC4A2 SLC4A1
11 carbonate dehydratase activity GO:0004089 9.55 CA2 CA1
12 proton transmembrane transporter activity GO:0015078 9.55 TCIRG1 ATP6V1C2 ATP6V1B2 ATP6V1B1 ATP6V0A4
13 secondary active sulfate transmembrane transporter activity GO:0008271 9.54 SLC26A6 SLC26A1
14 oxalate transmembrane transporter activity GO:0019531 9.51 SLC26A6 SLC26A1
15 sodium:bicarbonate symporter activity GO:0008510 9.49 SLC4A7 SLC4A4
16 arylesterase activity GO:0004064 9.48 CA2 CA1
17 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.35 TCIRG1 ATP6V1G3 ATP6V1C2 ATP6V1B2 ATP6V0A4
18 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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