MCID: RNL007
MIFTS: 52

Renal Tubular Acidosis

Categories: Blood diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Renal Tubular Acidosis

MalaCards integrated aliases for Renal Tubular Acidosis:

Name: Renal Tubular Acidosis 38 12 76 53 29 15 73
Acidosis, Renal Tubular 44
Acidosis Renal Tubular 55

Classifications:



External Ids:

Disease Ontology 12 DOID:14219
ICD10 33 N25.89
MeSH 44 D000141
NCIt 50 C28129
SNOMED-CT 68 1776003
UMLS 73 C0001126

Summaries for Renal Tubular Acidosis

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, autosomal recessive and renal tubular acidosis, distal. An important gene associated with Renal Tubular Acidosis is ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. The drugs Amphotericin B and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and bone, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia : 76 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

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

(show top 50) (show all 223)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, autosomal recessive 34.4 ATP6V0A4 ATP6V1B1 SLC4A1
2 renal tubular acidosis, distal 34.4 ATP6V0A4 ATP6V1B1 SLC4A1
3 renal tubular acidosis, distal, autosomal dominant 34.3 ATP6V0A4 ATP6V1B1 CA2 SLC4A1
4 osteopetrosis, autosomal recessive 3 33.5 ATP6V0A4 ATP6V1B1 CA2 TCIRG1
5 nephrocalcinosis 32.4 ATP6V0A4 ATP6V1B1 CA2 OCRL SLC4A1
6 medullary sponge kidney 30.8 ATP6V0A4 ATP6V1B1
7 nephrolithiasis 30.6 ATP6V0A4 ATP6V1B1 SLC26A6
8 pseudohypoaldosteronism 29.9 NR3C2 REN SCNN1G
9 metabolic acidosis 29.7 ATP6V0A4 ATP6V1B1 CA2 SCNN1G SLC4A1 SLC4A4
10 renal tubular acidosis, distal, with progressive nerve deafness 12.9
11 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 12.8
12 slc4a1-associated distal renal tubular acidosis 12.8
13 renal tubular acidosis, distal, with hemolytic anemia 12.7
14 renal tubular acidosis, proximal 12.6
15 renal tubular acidosis, distal, type 3 12.4
16 renal tubular acidosis iii 12.4
17 neuroaxonal dystrophy renal tubular acidosis 12.4
18 renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies 12.3
19 renal tubular acidosis, distal, type 4 12.3
20 autosomal dominant proximal renal tubular acidosis 12.3
21 hypoparathyroidism, sensorineural deafness, and renal disease 11.5
22 arthrogryposis, renal dysfunction, and cholestasis 1 11.5
23 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.3
24 say syndrome 11.2
25 dent disease 2 11.2
26 lowe oculocerebrorenal syndrome 11.2
27 glomerulopathy with fibronectin deposits 2 11.2
28 amelogenesis imperfecta hypoplastic type, ig 11.2
29 osteomalacia 10.6
30 osteopetrosis 10.6
31 sjogren syndrome 10.5
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
33 diabetes insipidus 10.5
34 biliary cirrhosis, primary, 1 10.5
35 primary biliary cirrhosis 10.5
36 hyperparathyroidism 10.5
37 primary biliary cholangitis 10.5
38 diabetes insipidus, nephrogenic, autosomal 10.5
39 systemic lupus erythematosus 10.5
40 fanconi syndrome 10.5
41 lupus erythematosus 10.5
42 rickets 10.4
43 hypothyroidism 10.4
44 hypokalemia 10.4
45 hypokalemic periodic paralysis, type 1 10.4
46 sensorineural hearing loss 10.4
47 ovalocytosis, southeast asian 10.4
48 hepatitis 10.4
49 bone disease 10.4
50 diabetes mellitus 10.3

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



Diseases related to Renal Tubular Acidosis

Symptoms & Phenotypes for Renal Tubular Acidosis

MGI Mouse Phenotypes related to Renal Tubular Acidosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 ATP6V0A4 ATP6V1B1 CA2 NR3C2 OCRL REN
2 growth/size/body region MP:0005378 9.91 ATP6V0A4 CA2 NR3C2 OCRL REN SCNN1G
3 mortality/aging MP:0010768 9.65 ATP6V0A4 CA2 NR3C2 OCRL REN SCNN1G
4 renal/urinary system MP:0005367 9.36 ATP6V0A4 ATP6V1B1 CA2 NR3C2 OCRL REN

Drugs & Therapeutics for Renal Tubular Acidosis

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

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amphotericin B Approved, Investigational Phase 4 1397-89-3 5280965 14956
2
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4 Natriuretic Agents Phase 4,Phase 3,Not Applicable
5 diuretics Phase 4,Phase 3,Not Applicable
6 Liposomal amphotericin B Phase 4
7 Anti-Bacterial Agents Phase 4
8 Hormone Antagonists Phase 4
9 Diuretics, Potassium Sparing Phase 4
10 Hormones Phase 4
11 Mineralocorticoids Phase 4
12 Antifungal Agents Phase 4
13 Mineralocorticoid Receptor Antagonists Phase 4
14 Antiprotozoal Agents Phase 4
15 Anti-Infective Agents Phase 4
16 Antiparasitic Agents Phase 4
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
18
Potassium Citrate Approved, Investigational, Vet_approved Phase 3,Not Applicable
19
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 77-92-9 311
20 Bone Density Conservation Agents Phase 2, Phase 3
21 Calcium, Dietary Phase 2, Phase 3,Not Applicable
22 Citrate Phase 3,Not Applicable
23 Expectorants Phase 3,Not Applicable
24 Respiratory System Agents Phase 3,Not Applicable
25
Furosemide Approved, Vet_approved 54-31-9 3440
26
Fludrocortisone Approved, Investigational 127-31-1 31378
27
Acetazolamide Approved, Vet_approved Not Applicable 59-66-5 1986
28
Topiramate Approved Not Applicable 97240-79-4 5284627
29 Antibodies
30 Immunoglobulins
31 Sodium Potassium Chloride Symporter Inhibitors
32 Anti-Inflammatory Agents
33 Anticonvulsants Not Applicable
34 Anticoagulants Not Applicable
35 Carbonic Anhydrase Inhibitors Not Applicable
36 Chelating Agents Not Applicable
37 Protective Agents Not Applicable
38 Neuroprotective Agents Not Applicable
39 Anti-Obesity Agents Not Applicable

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Use of Spironolactone for the Prevention of Electrolyte Abnormalities in Patients Treated With Amphotericin B Terminated NCT01843309 Phase 4 Spironolactone 100mg;Spironolactone 200mg;Placebo
2 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3
3 Study Evaluating Subjects With Distal Renal Tubular Acidosis Not yet recruiting NCT03644706 Phase 3 ADV7103;Placebos
4 Renal Tubular Acidosis in Incident Renal Transplant Recipients Unknown status NCT01283880
5 Genetic and Morphological Analysis of Thyrotoxic Periodic Paralysis Unknown status NCT02287363
6 Renal Tubular Acidosis is Highly Prevalent in Critically Ill Patients Completed NCT02392091
7 Influence of Polymorphisms in the ATP6V1 Gene of the V-ATPase on the Development of Incomplete Distal Renal Tubular Acidosis Completed NCT01690039 Furosemide-Fludrocortisone-Test (test for urinary acidification)
8 A Study Of Mircera In Patients With Kidney Disease Who Are Not On Dialysis Completed NCT02490514
9 Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance Completed NCT02979106 Not Applicable
10 Effects of Potassium Citrate in Urine of Children With Elevated Calcium in Urine and Kidney Stones Completed NCT00120731 Not Applicable Potassium Citrate;Acetazolamide
11 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital Not yet recruiting NCT03268460
12 Use of Sodium Bicarbonate in Patients Treated With Topiramate Not yet recruiting NCT03354507 Not Applicable
13 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305

Search NIH Clinical Center for Renal Tubular Acidosis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 29

Anatomical Context for Renal Tubular Acidosis

MalaCards organs/tissues related to Renal Tubular Acidosis:

41
Kidney, Bone, Testes, Liver, Thyroid, Lung, Heart
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 1034)
# Title Authors Year
1
Renal Tubular Acidosis. ( 30454739 )
2019
2
Distal renal tubular acidosis in two children with acquired hypothyroidism. ( 29716758 )
2018
3
Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families. ( 29573245 )
2018
4
Regional anesthesia is safe and effective for lower limb orthopedic surgery in patient with renal tubular acidosis and hypokalemia. ( 29643635 )
2018
5
Distal renal tubular acidosis in SjAPgren's syndrome. ( 29657223 )
2018
6
Topiramate-Associated Renal Tubular Acidosis. ( 29782342 )
2018
7
Sjogren's with distal renal tubular acidosis complicating pregnancy. ( 29361865 )
2018
8
Hyperammonemia associated with distal renal tubular acidosis or urinary tract infection: a systematic review. ( 29134448 )
2018
9
Anesthetic considerations in a parturient with renal tubular acidosis and hypothyroidism undergoing cesarean delivery. ( 29029882 )
2018
10
Renal Tubular Acidosis an Adverse Effect of PD-1 Inhibitor Immunotherapy. ( 29666732 )
2018
11
Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing. ( 29437164 )
2018
12
Systemic lupus erythematosus with SjAPgren's syndrome and renal tubular acidosis presenting as nephrogenic diabetes insipidus. ( 29657217 )
2018
13
SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report. ( 29914390 )
2018
14
Osteopetrosis with renal tubular acidosis and cerebral calcification. ( 29571443 )
2018
15
Bilateral Proximal Femur Fractures in a Patient with Renal Tubular Acidosis: A Case Report. ( 29725512 )
2018
16
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. ( 29725771 )
2018
17
A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis. ( 29483102 )
2018
18
Molecular mechanisms of cutis laxa and distal renal tubular acidosis-causing mutations in V-ATPase<i>a</i>subunits, ATP6V0A2 and ATP6V0A4. ( 29311258 )
2018
19
Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis. ( 29627839 )
2018
20
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance. ( 29024829 )
2018
21
Targeted Deletion of the Ncoa7 Gene Results in Incomplete Distal Renal Tubular Acidosis in Mice. ( 29384414 )
2018
22
An initial evaluation of hypokalemia turned out distal renal tubular acidosis secondary to parathyroid adenoma. ( 30381523 )
2018
23
Alkaptonuria, a new association of distal renal tubular acidosis. ( 30152443 )
2018
24
Ibuprofen Abuse-A Case of Rhabdomyolysis, Hypokalemia, and Hypophosphatemia With Drug-Induced Mixed Renal Tubular Acidosis. ( 30197993 )
2018
25
Sjögren's, Renal Tubular Acidosis and Osteomalacia - An Asian Indian Series. ( 30123372 )
2018
26
A mouse model of pseudohypoaldosteronism type II reveals a novel mechanism of renal tubular acidosis. ( 30146013 )
2018
27
Pendred, pendrin, pseudohypoaldosteronism type II, and renal tubular acidosis. ( 30143066 )
2018
28
Pseudo-Renal Tubular Acidosis: Conditions Mimicking Renal Tubular Acidosis. ( 30139462 )
2018
29
Incomplete Distal Renal Tubular Acidosis and Kidney Stones. ( 30139463 )
2018
30
Distal renal tubular acidosis in sickle cell anemia. ( 30152444 )
2018
31
Oral manifestations of renal tubular acidosis associated with secondary rickets: case report. ( 30199559 )
2018
32
Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children. ( 30230413 )
2018
33
Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis. ( 30256676 )
2018
34
Hypokalemic Paralysis Secondary to Renal Tubular Acidosis Revealing Underlying Sjogren's Syndrome. ( 30345187 )
2018
35
Distal renal tubular acidosis secondary to vesico-ureteric reflux: A case report with review of literature. ( 30381529 )
2018
36
Renal Tubular Acidosis and Hypokalemic Paralysis as a First Presentation of Primary Sjögren's Syndrome. ( 30410805 )
2018
37
A Family with Autosomal Dominant Distal Renal Tubular Acidosis Presents with Atypical Phenotype Caused by a Missence Mutation (R388C) of the Human Kidney Anion Exchanger. ( 30554219 )
2018
38
Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations. ( 30028003 )
2018
39
Topiramate induced renal tubular acidosis. ( 30048437 )
2018
40
A physiology-based approach to a patient with hyperkalemic renal tubular acidosis. ( 30048563 )
2018
41
Low Molecular Weight Proteinuria in Children with Distal Renal Tubular Acidosis. ( 30110261 )
2018
42
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis. ( 30124986 )
2018
43
Renal Tubular Acidosis and the Nephrology Teaching Paradigm. ( 30139457 )
2018
44
Hypokalemic Distal Renal Tubular Acidosis. ( 30139458 )
2018
45
Hyperkalemic Forms of Renal Tubular Acidosis: Clinical and Pathophysiological Aspects. ( 30139459 )
2018
46
Renal Tubular Acidosis: H+/Base and Ammonia Transport Abnormalities and Clinical Syndromes. ( 30139460 )
2018
47
Clinical Approach to Proximal Renal Tubular Acidosis in Children. ( 30139461 )
2018
48
Renal Tubular Acidosis. ( 29093127 )
2017
49
Renal Tubular Acidosis, Osteopetrosis, and Cerebral Calcification: A Rare Syndrome Caused by Carbonic Anhydrase II Deficiency. ( 28761241 )
2017
50
Renal Tubular Acidosis in Patients with Primary SjAPgren's Syndrome. ( 29042903 )
2017

Variations for Renal Tubular Acidosis

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
12.41 ATP6V0A4 ATP6V1B1 SCNN1G SLC26A6 SLC4A1 SLC4A4
2
Show member pathways
12.16 ATP6V0A4 ATP6V1B1 SCNN1G TCIRG1
3
Show member pathways
11.8 ATP6V0A4 ATP6V1B1 CA2 SLC4A1 TCIRG1
4 11.79 ATP6V0A4 ATP6V1B1 TCIRG1
5
Show member pathways
11.64 ATP6V0A4 ATP6V1B1 TCIRG1
6 11.45 ATP6V0A4 ATP6V1B1 TCIRG1
7 11.28 CA2 SLC4A4 SLC9A3
8 11.05 NR3C2 SCNN1G
9
Show member pathways
11 CA2 SLC4A1
10 10.69 CA2 SLC4A4 SLC9A3

GO Terms for Renal Tubular Acidosis

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.97 SCNN1G SLC26A6 SLC4A1 SLC4A4 SLC4A7 TCIRG1
2 apical part of cell GO:0045177 9.65 ATP6V0A4 CA2 REN
3 phagocytic vesicle membrane GO:0030670 9.61 ATP6V0A4 OCRL TCIRG1
4 brush border membrane GO:0031526 9.58 ATP6V0A4 SLC26A6 SLC9A3
5 proton-transporting V-type ATPase, V0 domain GO:0033179 9.46 ATP6V0A4 TCIRG1
6 basolateral plasma membrane GO:0016323 9.43 ATP6V1B1 CA2 SLC26A6 SLC4A1 SLC4A4 SLC4A7
7 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 9.37 ATP6V0A4 TCIRG1
8 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.33 ATP6V0A4 ATP6V1B1 TCIRG1
9 apical plasma membrane GO:0016324 9.17 ATP6V0A4 ATP6V1B1 SCNN1G SLC26A6 SLC4A7 SLC9A3
10 membrane GO:0016020 10.07 ATP6V0A4 ATP6V1B1 CA2 NR3C2 OCRL REN
11 plasma membrane GO:0005886 10.06 ATP6V0A4 CA2 OCRL REN SCNN1G SLC26A6
12 extracellular exosome GO:0070062 10.05 ATP6V0A4 ATP6V1B1 CA2 SCNN1G SLC4A1 SLC4A4

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.86 SLC26A6 SLC4A4 SLC4A7 SLC9A3
2 sodium ion transport GO:0006814 9.8 SCNN1G SLC4A4 SLC4A7 SLC9A3
3 insulin receptor signaling pathway GO:0008286 9.71 ATP6V0A4 ATP6V1B1 TCIRG1
4 proton transmembrane transport GO:1902600 9.71 ATP6V0A4 ATP6V1B1 SLC9A3 TCIRG1
5 excretion GO:0007588 9.7 ATP6V0A4 ATP6V1B1 SCNN1G
6 transferrin transport GO:0033572 9.69 ATP6V0A4 ATP6V1B1 TCIRG1
7 ATP hydrolysis coupled proton transport GO:0015991 9.63 ATP6V0A4 ATP6V1B1 TCIRG1
8 anion transmembrane transport GO:0098656 9.62 SLC26A6 SLC4A1 SLC4A4 SLC4A7
9 inorganic anion transport GO:0015698 9.61 SLC4A1 SLC4A4 SLC4A7
10 ion transport GO:0006811 9.61 ATP6V0A4 ATP6V1B1 SCNN1G SLC26A6 SLC4A1 SLC4A4
11 anion transport GO:0006820 9.56 SLC26A6 SLC4A1 SLC4A4 SLC4A7
12 vacuolar acidification GO:0007035 9.55 ATP6V0A4 TCIRG1
13 bicarbonate transport GO:0015701 9.55 CA2 SLC26A6 SLC4A1 SLC4A4 SLC4A7
14 regulation of pH GO:0006885 9.54 ATP6V0A4 ATP6V1B1 SLC9A3
15 positive regulation of dipeptide transmembrane transport GO:2001150 9.48 CA2 SLC26A6
16 regulation of intracellular pH GO:0051453 9.1 CA2 SLC26A6 SLC4A1 SLC4A4 SLC4A7 SLC9A3

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

# Name GO ID Score Top Affiliating Genes
1 anion:anion antiporter activity GO:0015301 9.43 SLC26A6 SLC4A1
2 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.4 ATP6V0A4 TCIRG1
3 bicarbonate transmembrane transporter activity GO:0015106 9.37 SLC26A6 SLC4A1
4 proton transmembrane transporter activity GO:0015078 9.33 ATP6V0A4 ATP6V1B1 TCIRG1
5 chloride transmembrane transporter activity GO:0015108 9.32 SLC26A6 SLC4A1
6 sodium:bicarbonate symporter activity GO:0008510 9.26 SLC4A4 SLC4A7
7 anion transmembrane transporter activity GO:0008509 9.26 SLC26A6 SLC4A1 SLC4A4 SLC4A7
8 inorganic anion exchanger activity GO:0005452 8.92 SLC26A6 SLC4A1 SLC4A4 SLC4A7

Sources for Renal Tubular Acidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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