MCID: RNL007
MIFTS: 51

Renal Tubular Acidosis

Categories: Blood diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Renal Tubular Acidosis

MalaCards integrated aliases for Renal Tubular Acidosis:

Name: Renal Tubular Acidosis 11 19 75 28 5 14 71 33
Idiopathic Infantile Hypercalcemia - Mild Form 33
Rta - [renal Tubular Acidosis] 33
Renal Hyperchloremic Acidosis 33
Lightwood-Albright Syndrome 33
Acidosis, Renal Tubular 43
Kidney Tubular Acidosis 33
Acidosis Renal Tubular 53
Renal Tubule Acidosis 33
Lightwood Syndrome 33
Kidney Acidosis 33
Renal Acidosis 33

Classifications:



External Ids:

Disease Ontology 11 DOID:14219
MeSH 43 D000141
NCIt 49 C28129
SNOMED-CT 68 1776003
ICD11 33 1272869150
UMLS 71 C0001126

Summaries for Renal Tubular Acidosis

GARD: 19 A group of rare renal tubular diseases characterized by primary defects in bicarbonate reabsorption from urine (proximal renal tubular acidosis) and/or hydrogen excretion into the lumen (distal renal tubular acidosis), resulting in metabolic acidosis with hyperchloremia and a normal plasma anion gap. The glomerular filtration rate is relatively normal.

MalaCards based summary: Renal Tubular Acidosis, also known as idiopathic infantile hypercalcemia - mild form, is related to renal tubular acidosis, distal, 4, with hemolytic anemia and distal renal tubular acidosis. 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 Transport of inorganic cations/anions and amino acids/oligopeptides and Disorders of transmembrane transporters. 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 homeostasis/metabolism and renal/urinary system

Disease Ontology: 11 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: 75 Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body... more...

Related Diseases for Renal Tubular Acidosis

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 556)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, 4, with hemolytic anemia 33.3 WDR72 SLC4A1
2 distal renal tubular acidosis 33.2 WDR72 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
3 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 33.2 WDR72 SLC4A1 FOXI1 ATP6V1B1 ATP6V0A4
4 osteopetrosis, autosomal recessive 3 33.1 SLC4A4 SLC4A1 CA4 CA2 ATP6V1B1 ATP6V0A4
5 distal renal tubular acidosis with hemolytic anemia 33.1 WDR72 SLC4A1
6 nephrocalcinosis 32.1 SLC4A1 SLC12A1 OCRL CLCN5 CA2 ATP6V1B1
7 metabolic acidosis 31.9 SLC4A4 SLC4A1 REN CA2 ATP6V1B1 ATP6V0A4
8 hypokalemia 31.8 SLC26A4 SLC12A1 REN ATP6V1B1
9 rickets 31.7 PTH OCRL CLCN5
10 sensorineural hearing loss 31.3 SLC26A4 SLC12A1 FOXI1 ATP6V1B1 ATP6V0A4
11 nephrolithiasis 31.3 SLC4A1 SLC12A1 PTH CLCN5 ATP6V1B1 ATP6V0A4
12 medullary sponge kidney 31.3 ATP6V1B1 ATP6V0A4
13 hereditary elliptocytosis 31.2 SLC4A1 OSGEP CA2 ATP6V1B1 ATP6V0A4
14 hypophosphatemia 31.2 PTH OCRL CLCN5
15 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 31.2 SLC4A4 SLC12A1
16 aminoaciduria 31.2 OCRL CLCN5 B2M
17 fanconi syndrome 31.2 SLC4A4 PTH OCRL CLCN5 B2M ATP6V1B1
18 nephrogenic diabetes insipidus 31.2 SLC12A1 REN PTH
19 corneal dystrophy, band-shaped 31.0 SLC4A7 SLC4A4 CA2
20 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 30.8 SLC26A4 FOXI1 ATP6V1B1
21 hydronephrosis 30.7 SLC12A1 REN B2M
22 chronic pyelonephritis 30.6 REN PTH B2M
23 intraocular pressure quantitative trait locus 30.6 SLC4A4 CA4 CA2
24 bartter disease 30.5 SLC26A4 SLC12A7 SLC12A1 REN PTH CLCN5
25 osteopetrosis, autosomal recessive 1 30.5 ATP6V1B1 ATP6V0A4
26 kidney disease 30.4 SLC12A1 REN PTH CLCN5 CA2 B2M
27 alport syndrome 30.4 REN OCRL CLCN5
28 dent disease 1 30.4 SLC12A1 OCRL CLCN5 ATP6V1B1
29 osteitis fibrosa 30.3 PTH B2M
30 liddle syndrome 1 30.2 SLC26A4 SLC12A1 REN
31 uremia 29.9 REN PTH B2M
32 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss 12.2
33 slc4a1-associated distal renal tubular acidosis 12.0
34 renal tubular acidosis, distal, 1 12.0
35 renal tubular acidosis, proximal 11.9
36 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 11.9
37 primary renal tubular acidosis 11.6
38 renal tubular acidosis iii 11.6
39 hereditary distal renal tubular acidosis 11.5
40 autosomal dominant proximal renal tubular acidosis 11.5
41 neuroaxonal dystrophy renal tubular acidosis 11.4
42 say syndrome 11.3
43 dent disease 2 11.3
44 lowe oculocerebrorenal syndrome 11.3
45 glomerulopathy with fibronectin deposits 2 11.3
46 primary tubular proximal acidosis 11.3
47 renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies 11.3
48 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome 11.2
49 amelogenesis imperfecta, type ig 11.2
50 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 11.2

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



Diseases related to Renal Tubular Acidosis

Symptoms & Phenotypes for Renal Tubular Acidosis

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.19 ATP6V0A4 ATP6V1B1 B2M CA2 CA4 CLCN5
2 no effect GR00402-S-2 10.19 ATP6V0A4 ATP6V1B1 B2M CA2 CA4 CLCN5

MGI Mouse Phenotypes related to Renal Tubular Acidosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 ATP6V0A4 ATP6V1B1 B2M CA2 CA4 CLCN5
2 renal/urinary system MP:0005367 10.24 ATP6V0A4 ATP6V1B1 CA2 CLCN5 FOXI1 OCRL
3 growth/size/body region MP:0005378 10.06 ATP6V0A4 ATP6V1B1 B2M CA2 CA4 CLCN5
4 hearing/vestibular/ear MP:0005377 9.73 ATP6V0A4 ATP6V1B1 FOXI1 SLC12A7 SLC26A4 SLC4A7
5 skeleton MP:0005390 9.7 ATP6V0A4 ATP6V1B1 CA2 CLCN5 FOXI1 PTH
6 mortality/aging MP:0010768 9.47 ATP6V0A4 B2M CA2 CA4 FOXI1 OCRL

Drugs & Therapeutics for Renal Tubular Acidosis

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Potassium citrate Approved, Investigational, Vet_approved Phase 3 866-84-2
2
Sodium citrate Approved, Investigational Phase 3 68-04-2 23431961
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
4 Expectorants Phase 3
5 Respiratory System Agents Phase 3
6 Citrate Phase 3
7 diuretics Phase 3
8
Rifampicin Approved Phase 2 13292-46-1 135512673 5381226 135900090
9 Calcium, Dietary Phase 2
10 Anti-Bacterial Agents Phase 2
11 Anti-Infective Agents Phase 2
12 Antitubercular Agents Phase 2
13 Antibiotics, Antitubercular Phase 2
14
Calcium Nutraceutical Phase 2 7440-70-2 271
15
Carbamide peroxide Approved 124-43-6
16
Topiramate Approved 97240-79-4 5284627
17
Fludrocortisone Approved, Investigational 127-31-1 31378
18
Furosemide Approved, Vet_approved 54-31-9 3440
19 Sodium Potassium Chloride Symporter Inhibitors
20 Anti-Inflammatory Agents

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 Unknown status 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) Not yet recruiting NCT03644706 Phase 3 ADV7103;Placebo
3 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene Recruiting NCT03301038 Phase 2 Rifampin
4 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Idiopathic Infantile Hypercalcemia Recruiting NCT03384121 Phase 1 Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension
5 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH) Unknown status NCT03268460
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 Renal Tubular Acidosis is Highly Prevalent in Critically Ill Patients Completed NCT02392091
9 Mircera In Patients With CKD Stages III-IV Not On Dialysis: Observational, Non-interventional Cohort Study Completed NCT02490514
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)

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

Genetic Tests for Renal Tubular Acidosis

Genetic tests related to Renal Tubular Acidosis:

# Genetic test Affiliating Genes
1 Renal Tubular Acidosis 28

Anatomical Context for Renal Tubular Acidosis

Organs/tissues related to Renal Tubular Acidosis:

MalaCards : Kidney, Bone, Liver, Bone Marrow, Brain, Thyroid, 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

Publications for Renal Tubular Acidosis

Articles related to Renal Tubular Acidosis:

(show top 50) (show all 2870)
# Title Authors PMID Year
1
Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene. 53 62
20068363 2010
2
Carbonic anhydrase II deficiency a novel mutation. 53 62
19556665 2009
3
Functional significance of channels and transporters expressed in the inner ear and kidney. 53 62
17670895 2007
4
Carbonic anhydrase II in the developing and adult human brain. 53 62
16825953 2006
5
Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome. 53 62
16382316 2006
6
Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. 53 62
15713912 2005
7
Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification. 53 62
15701991 2005
8
Dent Disease with mutations in OCRL1. 53 62
15627218 2005
9
Autoantibodies against carbonic anhydrase II are increased in renal tubular acidosis associated with Sjogren syndrome. 53 62
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. 53 62
15300855 2004
11
Paralysis Episodes in Carbonic Anhydrase II Deficiency. 53 62
17657093 2003
12
Rapid improvement of osteomalacia by treatment in a case with Sjögren's syndrome, rheumatoid arthritis and renal tubular acidosis type 1. 53 62
11518137 2001
13
Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome. 53 62
11264157 2001
14
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. 53 62
9854053 1998
15
Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency. 53 62
9630052 1998
16
Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy. 53 62
9525974 1998
17
Promoter activity of carbonic anhydrase II regulatory regions in cultured renal proximal tubular cells. 53 62
9674946 1998
18
Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency: pathogenesis of impaired acidification. 53 62
9323296 1997
19
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. 53 62
9312167 1997
20
Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus. 53 62
9150731 1997
21
Recent developments in the understanding of the pathophysiology of osteopetrosis. 53 62
8630510 1996
22
Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients. 53 62
8128957 1994
23
Carbonic anhydrase II deficiency syndrome--clinico-pathological, biochemical and molecular studies. 53 62
7700057 1994
24
[Recent progress in molecular biology of inherited tubular transport abnormalities]. 53 62
1491459 1992
25
[A case of Hashimoto's thyroiditis associated with renal tubular acidosis, Sjögren syndrome and empty sella syndrome]. 53 62
1468597 1992
26
Molecular basis of human carbonic anhydrase II deficiency. 53 62
1542674 1992
27
Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis. 53 62
1959222 1991
28
Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification). 53 62
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. 53 62
2123360 1990
30
Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients. 53 62
2117271 1990
31
[Type IVa2 urinary lithiasis and associated pathologies: About 3 cases]. 62
36280550 2022
32
Pediatric urolithiasis: what can pediatricians expect from radiologists? 62
36329164 2022
33
Comprehensive analysis of clinical and laboratory features of 440 published cases of Sjögren's syndrome and renal tubular acidosis. 62
36324184 2022
34
Improved growth of a child with primary distal renal tubular acidosis after switching from a conventional alkalizing treatment to a new prolonged-release formulation containing potassium citrate and potassium bicarbonate: lessons for the clinical nephrologist. 62
35357683 2022
35
A novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis. 62
35441494 2022
36
The V-ATPases in cancer and cell death. 62
35504950 2022
37
[Epidemiological, clinical and evolutionary particularities of primary distal tubular acidosis in Tunisian children]. 62
36216732 2022
38
Renal tubular acidosis and associated factors in patients with primary Sjögren's syndrome: a registry-based study. 62
36383239 2022
39
Severe hypophosphatemia as the initial presentation of renal Fanconi's syndrome and distal renal tubular acidosis related to zoledronic acid: A case report and literature review. 62
36412607 2022
40
Distal renal tubular acidosis and lethargy associated with zonisamide treatment in a dog with idiopathic epilepsy. 62
35916390 2022
41
Renal tubular acidosis and nephrogenic diabetes insipidus caused by Sjögren's syndrome with hypokalemic periodic paralysis as the first symptom: A case report. 62
35568514 2022
42
Hypokalemic Periodic Paralysis Secondary to Medullary Sponge Kidney Complicated With Renal Tubular Acidosis. 62
36238424 2022
43
Acid-Base Imbalance in Pseudohypoaldosteronism Type 1 in Comparison With Type IV Renal Tubular Acidosis. 62
36320629 2022
44
Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis. 62
36320073 2022
45
Retraction: Molecular Diagnosis of Primary Hyperoxaluria Type 1 and Distal Renal Tubular Acidosis in Moroccan Patients With Nephrolithiasis and/or Nephrocalcinosis. 62
36246090 2022
46
Leigh-Like Syndrome With a Novel, Complex Phenotype Due to m.10191T>C in Mt-ND3. 62
36249637 2022
47
Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability. 62
35923129 2022
48
Lithium-induced nephropathy; One medication with multiple side effects: a case report. 62
36085030 2022
49
Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute. 62
35990030 2022
50
Fanconi Syndrome in an Adult With Chronic Alcohol Use Disorder: A Rare Etiology. 62
36158425 2022

Variations for Renal Tubular Acidosis

ClinVar genetic disease variations for Renal Tubular Acidosis:

5
# 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 SLC4A1 NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg) SNV Likely Pathogenic
235293 rs878853002 GRCh37: 17:42332640-42332640
GRCh38: 17:44255272-44255272
3 ATP6V1B1 NM_001692.4(ATP6V1B1):c.79C>T (p.Gln27Ter) SNV Likely Pathogenic
988216 rs1288346981 GRCh37: 2:71163163-71163163
GRCh38: 2:70936033-70936033
4 SLC4A1 NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile) SNV Uncertain Significance
988235 rs747337202 GRCh37: 17:42328568-42328568
GRCh38: 17:44251200-44251200
5 SLC4A1 NM_000342.4(SLC4A1):c.2385G>A (p.Met795Ile) SNV Uncertain Significance
988236 rs2047339489 GRCh37: 17:42328883-42328883
GRCh38: 17:44251515-44251515
6 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1181G>A (p.Arg394Gln) SNV Uncertain Significance
852567 rs1680670309 GRCh37: 2:71191605-71191605
GRCh38: 2:70964475-70964475
7 CA1 NM_001128831.4(CA1):c.368_369del (p.His123fs) DEL 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 rs764471823 GRCh37: 2:26483924-26483924
GRCh38: 2:26261056-26261056

Expression for Renal Tubular Acidosis

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

Pathways for Renal Tubular Acidosis



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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.57 SLC4A7 SLC4A4 SLC4A1 SLC26A7 SLC26A4 SLC12A7
2
Show member pathways
12.06 SLC4A4 SLC4A1 SLC26A4 SLC12A1
3 11.11 SLC4A4 CA4 CA2 ATP6V1B1 ATP6V0A4
4
Show member pathways
10.89 SLC4A1 CA4 CA2
5 10.34 CA4 CA2

GO Terms for Renal Tubular Acidosis

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.74 CLCN5 RHCG SLC12A7 SLC26A4 SLC26A7 SLC4A1
2 plasma membrane GO:0005887 10.74 CLCN5 RHCG SLC12A7 SLC26A4 SLC26A7 SLC4A1
3 phagocytic vesicle membrane GO:0030670 9.85 OCRL B2M ATP6V0A4
4 brush border membrane GO:0031526 9.8 SLC26A4 CA4 ATP6V0A4
5 apical plasma membrane GO:0016324 9.8 ATP6V0A4 ATP6V1B1 CA4 RHCG SLC12A1 SLC26A4
6 apical part of cell GO:0045177 9.76 REN CLCN5 CA2 ATP6V0A4
7 basolateral plasma membrane GO:0016323 9.5 SLC4A7 SLC4A4 SLC4A1 SLC26A7 RHCG CA4

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.14 CLCN5 SLC12A1 SLC12A7 SLC26A4 SLC26A7 SLC4A1
2 chloride transport GO:0006821 10.04 SLC4A1 SLC26A7 CLCN5
3 regulation of intracellular pH GO:0051453 10.03 SLC4A7 SLC4A4 SLC4A1 CA2
4 chloride transmembrane transport GO:1902476 10.03 SLC4A1 SLC26A7 SLC26A4 SLC12A7 SLC12A1 CLCN5
5 inorganic anion transport GO:0015698 10 SLC4A7 SLC4A4 SLC4A1 SLC26A4
6 potassium ion homeostasis GO:0055075 9.99 SLC12A7 SLC12A1 ATP6V1B1
7 monoatomic ion homeostasis GO:0050801 9.97 SLC4A1 SLC4A4 SLC4A7
8 chloride ion homeostasis GO:0055064 9.95 SLC12A7 SLC12A1 ATP6V1B1
9 regulation of pH GO:0006885 9.92 SLC26A4 RHCG ATP6V1B1 ATP6V0A4
10 oxalate transport GO:0019532 9.86 SLC26A7 SLC26A4
11 monoatomic anion transport GO:0006820 9.85 SLC4A7 SLC4A4 SLC4A1 SLC26A7
12 cellular monoatomic ion homeostasis GO:0006873 9.84 SLC4A1 RHCG
13 renal tubular secretion GO:0097254 9.83 ATP6V1B1 ATP6V0A4
14 monoatomic ion transport GO:0006811 9.8 SLC4A7 SLC4A4 SLC4A1 SLC26A7 SLC26A4 SLC12A7
15 monoatomic anion transmembrane transport GO:0098656 9.7 SLC26A4 SLC26A7 SLC4A1 SLC4A4 SLC4A7
16 synaptic vesicle lumen acidification GO:0097401 9.55 ATP6V1B1 ATP6V0A4
17 bicarbonate transport GO:0015701 9.4 SLC4A7 SLC4A4 SLC4A1 SLC26A7 SLC26A4 CA4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.92 SLC12A1 SLC12A7 SLC4A1 SLC4A4 SLC4A7
2 ammonium transmembrane transporter activity GO:0008519 9.8 SLC12A7 RHCG
3 oxalate transmembrane transporter activity GO:0019531 9.78 SLC26A7 SLC26A4
4 symporter activity GO:0015293 9.77 SLC4A7 SLC4A4 SLC12A7 SLC12A1
5 potassium:chloride symporter activity GO:0015379 9.76 SLC12A7 SLC12A1
6 sodium:bicarbonate symporter activity GO:0008510 9.73 SLC4A7 SLC4A4
7 chloride transmembrane transporter activity GO:0015108 9.73 SLC4A1 SLC26A7 SLC26A4
8 bicarbonate transmembrane transporter activity GO:0015106 9.63 SLC4A1 SLC26A7 SLC26A4
9 solute:inorganic anion antiporter activity GO:0005452 9.43 SLC4A7 SLC4A4 SLC4A1
10 chloride:monoatomic cation symporter activity GO:0015377 9.4 SLC12A7 SLC12A1
11 monoatomic anion transmembrane transporter activity GO:0008509 9.02 SLC4A7 SLC4A4 SLC4A1 SLC26A7

Sources for Renal Tubular Acidosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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