MCID: RNL007
MIFTS: 48

Renal Tubular Acidosis

Categories: Rare diseases, Nephrological diseases

Aliases & Classifications for Renal Tubular Acidosis

MalaCards integrated aliases for Renal Tubular Acidosis:

Name: Renal Tubular Acidosis 38 12 50 29 14 69
Acidosis, Renal Tubular 42
Acidosis Renal Tubular 52

Classifications:



External Ids:

Disease Ontology 12 DOID:14219
ICD10 33 N25.89
MeSH 42 D000141
NCIt 47 C28129
SNOMED-CT 64 1776003
UMLS 69 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 with deafness and proximal renal tubular acidosis. 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 Insulin receptor recycling. The drugs Amphotericin B and Miconazole 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 : 72 11687... more...

Related Diseases for Renal Tubular Acidosis

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

(show top 50) (show all 157)
id Related Disease Score Top Affiliating Genes
1 renal tubular acidosis with deafness 12.6
2 proximal renal tubular acidosis 12.5
3 renal tubular acidosis, distal, ad 12.5
4 renal tubular acidosis, distal, ar 12.5
5 renal tubular acidosis, distal, autosomal recessive 12.5
6 osteopetrosis, autosomal recessive 3, with renal tubular acidosis 12.4
7 renal tubular acidosis, proximal, with ocular abnormalities 12.4
8 slc4a1-associated distal renal tubular acidosis 12.4
9 renal tubular acidosis, distal 12.4
10 renal tubular acidosis, distal, type 3 12.1
11 renal tubular acidosis, distal, type 4 12.0
12 autosomal dominant proximal renal tubular acidosis 12.0
13 neuroaxonal dystrophy renal tubular acidosis 12.0
14 nephrocalcinosis 11.5
15 lowe syndrome 11.1
16 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.1
17 glomerulopathy with fibronectin deposits 2 10.9
18 dent disease 2 10.9
19 amelogenesis imperfecta hypoplastic type, ig 10.9
20 say syndrome 10.9
21 megalocytic interstitial nephritis 10.5 ATP6V0A4 ATP6V1B1
22 osteopetrosis 10.3
23 sengers syndrome 10.3 ATP6V0A4 ATP6V1B1 SLC4A1
24 osteomalacia 10.3
25 diabetes insipidus 10.3
26 mixed lacrimal gland cancer 10.3 ATP6V0A4 ATP6V1B1
27 fanconi syndrome 10.3
28 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 10.2 SLC4A4 SLC9A3
29 primary biliary cirrhosis 10.2
30 systemic lupus erythematosus 10.2
31 lupus erythematosus 10.2
32 sjogren's syndrome 10.2
33 cerebritis 10.2
34 sensorineural hearing loss 10.2
35 medullary sponge kidney 10.2
36 hyperparathyroidism 10.2
37 nephrolithiasis 10.2
38 hypothyroidism 10.2
39 marden-walker syndrome 10.1 NR3C2 REN
40 bartter syndrome, type 3 10.1 ATP6V0A4 REN
41 adenocarcinoma 10.1 NR3C2 REN
42 hypoaldosteronism, congenital, due to cmo ii deficiency 10.1 NR3C2 REN
43 respiratory failure 10.1
44 metabolic acidosis 10.1
45 thyroiditis 10.1
46 trabecular follicular adenocarcinoma 10.1 NR3C2 REN
47 osteoporosis 10.0
48 hyperammonemia 10.0
49 hypokalemia 10.0
50 hyperthyroidism 10.0

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 SLC4A1 SLC4A4 SLC4A7 SLC9A3 ATP6V0A4 ATP6V1B1
2 growth/size/body region MP:0005378 9.86 ATP6V0A4 CA2 NR3C2 OCRL REN SCNN1G
3 mortality/aging MP:0010768 9.61 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 36)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
4 diuretics Phase 4
5 Natriuretic Agents Phase 4
6 Anti-Bacterial Agents Phase 4
7 Antifungal Agents Phase 4
8 Anti-Infective Agents Phase 4
9 Antiparasitic Agents Phase 4
10 Antiprotozoal Agents Phase 4
11 Diuretics, Potassium Sparing Phase 4
12 Hormone Antagonists Phase 4
13 Hormones Phase 4
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
15 Liposomal amphotericin B Phase 4
16 Mineralocorticoid Receptor Antagonists Phase 4
17 Mineralocorticoids Phase 4
18 Bone Density Conservation Agents Phase 2, Phase 3
19 Calcium, Dietary Phase 2, Phase 3
20
Acetazolamide Approved, Vet_approved 59-66-5 1986
21
Potassium Citrate Approved, Vet_approved
22
Fludrocortisone Approved 127-31-1 31378
23
Furosemide Approved, Vet_approved 54-31-9 3440
24 Antibodies
25 calcitonin
26 Immunoglobulins
27 Anticoagulants
28 Anticonvulsants
29 Carbonic Anhydrase Inhibitors
30 Chelating Agents
31 Expectorants
32 Respiratory System Agents
33 Anti-Inflammatory Agents
34 Sodium Potassium Chloride Symporter Inhibitors
35 Citrate Nutraceutical
36
Citric Acid Nutraceutical, Vet_approved 77-92-9 311

Interventional clinical trials:

(show all 11)

id 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 Renal Tubular Acidosis in Incident Renal Transplant Recipients Unknown status NCT01283880
4 Genetic and Morphological Analysis of Thyrotoxic Periodic Paralysis Unknown status NCT02287363
5 Renal Tubular Acidosis is Highly Prevalent in Critically Ill Patients Completed NCT02392091
6 A Study Of Mircera In Patients With Kidney Disease Who Are Not On Dialysis Completed NCT02490514
7 Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance Completed NCT02979106
8 Effects of Potassium Citrate in Urine of Children With Elevated Calcium in Urine and Kidney Stones Completed NCT00120731 Potassium Citrate;Acetazolamide
9 Influence of Polymorphisms in the ATP6V1 Gene of the V-ATPase on the Development of Incomplete Distal Renal Tubular Acidosis Recruiting NCT01690039 Furosemide-Fludrocortisone-Test (test for urinary acidification)
10 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital Not yet recruiting NCT03268460
11 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305

Search NIH Clinical Center for Renal Tubular Acidosis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: acidosis, renal tubular

Genetic Tests for Renal Tubular Acidosis

Genetic tests related to Renal Tubular Acidosis:

id Genetic test Affiliating Genes
1 Renal Tubular Acidosis 29

Anatomical Context for Renal Tubular Acidosis

MalaCards organs/tissues related to Renal Tubular Acidosis:

39
Kidney, Bone, Liver, Thyroid, Testes, Colon, 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:
id Tissue Anatomical CompartmentCell Relevance
1 Kidney Proximal Tubule Proximal Tubule Cells Potential therapeutic candidate, affected by disease

Publications for Renal Tubular Acidosis

Articles related to Renal Tubular Acidosis:

(show top 50) (show all 660)
id Title Authors Year
1
Furosemide/Fludrocortisone Test and Clinical Parameters to Diagnose Incomplete Distal Renal Tubular Acidosis in Kidney Stone Formers. ( 28775126 )
2017
2
[Clinical features of hereditary distal renal tubular acidosis and SLC4A1 gene mutation]. ( 28407820 )
2017
3
I^-COPI mediates the retention of kAE1 G701D protein in Golgi apparatus - a mechanistic explanation of distal renal tubular acidosis associated with the G701D mutation. ( 28646128 )
2017
4
Tacrolimus-Induced Type IV Renal Tubular Acidosis following Liver Transplantation. ( 28761769 )
2017
5
Alport's syndrome with type 4 renal tubular acidosis. ( 28566416 )
2017
6
Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis. ( 28638614 )
2017
7
Renal Fanconi syndrome in distal renal tubular acidosis. ( 28293727 )
2017
8
Renal Tubular Acidosis, Osteopetrosis, and Cerebral Calcification: A Rare Syndrome Caused by Carbonic Anhydrase II Deficiency. ( 28761241 )
2017
9
Proximal Renal Tubular Acidosis (Fanconi syndrome) Induced by Apremilast: A Case Report. ( 28823583 )
2017
10
Ibuprofen-induced distal (type 1) renal tubular acidosis and hypokalaemia: the dangers of ibuprofen-codeine combination over-the-counter preparations. ( 28580738 )
2017
11
Clinical and molecular aspects of distal renal tubular acidosis in children. ( 28188436 )
2017
12
Clinical analysis of hyperkalemic renal tubular acidosis caused by calcineurin inhibitors in solid organ transplant recipients. ( 27966241 )
2017
13
Renal tubular acidosis. ( 28092281 )
2017
14
Successful Management of Refractory Type 1 Renal Tubular Acidosis with Amiloride. ( 28127482 )
2017
15
Transient Distal Renal Tubular Acidosis in Organophosphate Poisoning. ( 28400690 )
2017
16
Amelogenesis Imperfecta with Distal Renal Tubular Acidosis: A Novel Syndrome? ( 28553046 )
2017
17
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. ( 28233610 )
2017
18
Refining Diagnostic Approaches in Nephrolithiasis: Incomplete Distal Renal Tubular Acidosis. ( 28775128 )
2017
19
Type 3 renal tubular acidosis associated with growth hormone deficiency. ( 28888090 )
2017
20
Primary sclerosing cholangitis: a new cause of distal renal tubular acidosis. ( 27994859 )
2016
21
Systemic lupus erythematosus and renal tubular acidosis associated with hyperthyroidism. Case Report. ( 27179580 )
2016
22
Selective screening for distal renal tubular acidosis in recurrent kidney stone formers: initial experience and comparison of the simultaneous furosemide and fludrocortisone test with the short ammonium chloride test. ( 26961999 )
2016
23
A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis. ( 27767102 )
2016
24
Band 3 null(VIENNA) , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis. ( 27718309 )
2016
25
A novel mutant Na(+) /HCO3(-) cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis. ( 27338124 )
2016
26
Case report of renal tubular acidosis and misdiagnosed. ( 26857205 )
2016
27
Successful treatment of proximal renal tubular acidosis and Fanconi syndrome with vitamin D replacement. ( 27424705 )
2016
28
Pathophysiology of Renal Tubular Acidosis: Core CurriculumA 2016. ( 27188519 )
2016
29
A case of multiple myeloma presenting as a distal renal tubular acidosis with extensive bilateral nephrolithiasis. ( 26998308 )
2016
30
Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance. ( 28005240 )
2016
31
Bone Mineral Density in SjAPgren Syndrome Patients with and Without Distal Renal Tubular Acidosis. ( 26873478 )
2016
32
Successful treatment of renal tubular acidosis and recurrent secondary struvite kidney stones with rituximab in a patient with primary SjAPgren's syndrome. ( 28031439 )
2016
33
Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene. ( 27140593 )
2016
34
Late Metabolic Acidosis Caused by Renal Tubular Acidosis in Acute Salicylate Poisoning. ( 27181539 )
2016
35
Renal tubular acidosis type 4 in pregnancy. ( 26989116 )
2016
36
Sjogren's syndrome presenting as Hypokalemic paralysis due to distal renal tubular acidosis. ( 27728182 )
2016
37
Failure to thrive and nephrocalcinosis due to distal renal tubular acidosis: A rare presentation of pediatric lupus nephritis. ( 27900972 )
2016
38
The need for genetic study to diagnose some cases of distal renal tubular acidosis. ( 27493007 )
2016
39
Anesthetic Management of a Surgical Patient with Chronic Renal Tubular Acidosis Complicated by Subclinical Hypothyroidism. ( 27648310 )
2016
40
Sodium valproate-induced Fanconi type proximal renal tubular acidosis. ( 26823359 )
2016
41
Erratum: A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis. ( 27994869 )
2016
42
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families. ( 27247958 )
2016
43
Type 4 renal tubular acidosis in a kidney transplant recipient. ( 27105603 )
2016
44
Transient distal renal tubular acidosis following hump nosed viper bite: Two cases from Sri Lanka. ( 27752013 )
2016
45
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation. ( 27540713 )
2016
46
Review of the Diagnostic Evaluation of Renal Tubular Acidosis. ( 27999512 )
2016
47
Hypokalemic Paralysis in Sjogren's Syndrome Secondary to Renal Tubular Acidosis. ( 27731561 )
2016
48
A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis. ( 27274828 )
2016
49
Distal Renal Tubular Acidosis Associated with Celiac Disease and Thyroiditis. ( 27889732 )
2016
50
Distal renal tubular acidosis without renal impairment after use of tenofovir: a case report. ( 27866471 )
2016

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 ATP6V0A4 ATP6V1B1 SCNN1G SLC26A6 SLC4A1 SLC4A4
2
Show member pathways
12 ATP6V0A4 ATP6V1B1 CA2 SLC4A1
3 11.18 CA2 SLC4A4 SLC9A3
4 10.94 NR3C2 SCNN1G
5
Show member pathways
10.87 CA2 SLC4A1
6 10.49 CA2 SLC4A4 SLC9A3

GO Terms for Renal Tubular Acidosis

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

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.93 ATP6V0A4 ATP6V1B1 CA2 NR3C2 OCRL REN
2 apical part of cell GO:0045177 9.54 ATP6V0A4 CA2 REN
3 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.43 ATP6V0A4 ATP6V1B1
4 brush border membrane GO:0031526 9.43 ATP6V0A4 SLC26A6 SLC9A3
5 apical plasma membrane GO:0016324 9.43 ATP6V0A4 ATP6V1B1 SCNN1G SLC26A6 SLC4A7 SLC9A3
6 basolateral plasma membrane GO:0016323 9.1 ATP6V1B1 CA2 SLC26A6 SLC4A1 SLC4A4 SLC4A7
7 plasma membrane GO:0005886 10.02 ATP6V0A4 CA2 OCRL REN SCNN1G SLC26A6
8 extracellular exosome GO:0070062 10.01 ATP6V0A4 ATP6V1B1 CA2 OCRL SCNN1G SLC4A1

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.78 SCNN1G SLC4A4 SLC4A7 SLC9A3
2 ion transport GO:0006811 9.76 ATP6V0A4 ATP6V1B1 SCNN1G SLC26A6 SLC4A1 SLC4A4
3 transmembrane transport GO:0055085 9.73 SLC26A6 SLC4A4 SLC9A3
4 excretion GO:0007588 9.69 ATP6V0A4 ATP6V1B1 SCNN1G
5 anion transmembrane transport GO:0098656 9.62 SLC26A6 SLC4A1 SLC4A4 SLC4A7
6 inorganic anion transport GO:0015698 9.61 SLC4A1 SLC4A4 SLC4A7
7 regulation of pH GO:0006885 9.58 ATP6V0A4 ATP6V1B1 SLC9A3
8 anion transport GO:0006820 9.56 SLC26A6 SLC4A1 SLC4A4 SLC4A7
9 transferrin transport GO:0033572 9.55 ATP6V0A4 ATP6V1B1
10 phagosome acidification GO:0090383 9.54 ATP6V0A4 ATP6V1B1
11 sodium ion transmembrane transport GO:0035725 9.54 SCNN1G SLC4A4 SLC4A7
12 ATP hydrolysis coupled proton transport GO:0015991 9.52 ATP6V0A4 ATP6V1B1
13 positive regulation of dipeptide transmembrane transport GO:2001150 9.46 CA2 SLC26A6
14 bicarbonate transport GO:0015701 9.35 CA2 SLC26A6 SLC4A1 SLC4A4 SLC4A7
15 regulation of intracellular pH GO:0051453 9.1 CA2 SLC26A6 SLC4A1 SLC4A4 SLC4A7 SLC9A3
16 transport GO:0006810 10.1 ATP6V0A4 ATP6V1B1 SCNN1G SLC26A6 SLC4A1 SLC4A4

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

id Name GO ID Score Top Affiliating Genes
1 hydrogen ion transmembrane transporter activity GO:0015078 9.4 ATP6V0A4 ATP6V1B1
2 anion:anion antiporter activity GO:0015301 9.37 SLC26A6 SLC4A1
3 bicarbonate transmembrane transporter activity GO:0015106 9.32 SLC26A6 SLC4A1
4 chloride transmembrane transporter activity GO:0015108 9.26 SLC26A6 SLC4A1
5 inorganic anion exchanger activity GO:0005452 9.26 SLC26A6 SLC4A1 SLC4A4 SLC4A7
6 sodium:bicarbonate symporter activity GO:0008510 9.16 SLC4A4 SLC4A7
7 anion transmembrane transporter activity GO:0008509 8.92 SLC26A6 SLC4A1 SLC4A4 SLC4A7

Sources for Renal Tubular Acidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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