PRTA
MCID: PRX033
MIFTS: 35

Proximal Renal Tubular Acidosis (PRTA) malady

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Proximal Renal Tubular Acidosis

Aliases & Descriptions for Proximal Renal Tubular Acidosis:

Name: Proximal Renal Tubular Acidosis 56 29 52
Renal Tubular Acidosis, Type Ii 69
Renal Tubular Acidosis Type 2 56
Prta 56

Characteristics:

Orphanet epidemiological data:

56
proximal renal tubular acidosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

Orphanet 56 ORPHA47159
ICD10 via Orphanet 34 N25.8

Summaries for Proximal Renal Tubular Acidosis

MalaCards based summary : Proximal Renal Tubular Acidosis, also known as renal tubular acidosis, type ii, is related to autosomal dominant proximal renal tubular acidosis and renal tubular acidosis, proximal, with ocular abnormalities. An important gene associated with Proximal Renal Tubular Acidosis is SLC4A4 (Solute Carrier Family 4 Member 4), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Bile secretion. Affiliated tissues include liver, kidney and bone, and related phenotypes are homeostasis/metabolism and digestive/alimentary

Wikipedia : 71 Proximal renal tubular acidosis (pRTA) or Type 2 Renal tubular acidosis (RTA) is a type of RTA caused by... more...

Related Diseases for Proximal Renal Tubular Acidosis

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



Diseases related to Proximal Renal Tubular Acidosis

Symptoms & Phenotypes for Proximal Renal Tubular Acidosis

MGI Mouse Phenotypes related to Proximal Renal Tubular Acidosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 SLC26A6 SLC4A4 SLC9A2 SLC9A3 SLC9A8 CA14
2 digestive/alimentary MP:0005381 9.8 SLC26A1 SLC26A6 SLC4A4 SLC9A2 SLC9A3 SLC9A8
3 renal/urinary system MP:0005367 9.43 SLC26A1 SLC26A6 SLC4A4 SLC9A3 CA2 OCRL
4 reproductive system MP:0005389 9.17 SLC9A2 SLC9A3 SLC9A8 CA14 CA2 CA4

Drugs & Therapeutics for Proximal Renal Tubular Acidosis

Interventional clinical trials:


id Name Status NCT ID Phase
1 Diabetic Kidney Alarm (DKA) Study Not yet recruiting NCT03128229

Search NIH Clinical Center for Proximal Renal Tubular Acidosis

Genetic Tests for Proximal Renal Tubular Acidosis

Genetic tests related to Proximal Renal Tubular Acidosis:

id Genetic test Affiliating Genes
1 Proximal Renal Tubular Acidosis 29

Anatomical Context for Proximal Renal Tubular Acidosis

MalaCards organs/tissues related to Proximal Renal Tubular Acidosis:

39
Liver, Kidney, Bone

Publications for Proximal Renal Tubular Acidosis

Articles related to Proximal Renal Tubular Acidosis:

(show all 45)
id Title Authors Year
1
Successful treatment of proximal renal tubular acidosis and Fanconi syndrome with vitamin D replacement. ( 27424705 )
2016
2
A novel mutant Na(+) /HCO3(-) cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis. ( 27338124 )
2016
3
Sodium valproate-induced Fanconi type proximal renal tubular acidosis. ( 26823359 )
2016
4
Topology of NBCe1 protein transmembrane segment 1 and structural effect of proximal renal tubular acidosis (pRTA) S427L mutation. ( 23362273 )
2013
5
Structure, function, and regulation of the SLC4 NBCe1 transporter and its role in causing proximal renal tubular acidosis. ( 23917030 )
2013
6
Proximal renal tubular acidosis mediated by mutations in NBCe1-A: unraveling the transporter's structure-functional properties. ( 24391589 )
2013
7
Missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis. ( 23636456 )
2013
8
HCO(3)(-)-independent conductance with a mutant Na(+)/HCO(3)(-) cotransporter (SLC4A4) in a case of proximal renal tubular acidosis with hypokalaemic paralysis. ( 22331414 )
2012
9
Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. ( 23235953 )
2012
10
Hypokalemic periodic paralysis due to proximal renal tubular acidosis in a case with membranoproliferative glomerulonephritis. ( 22616344 )
2011
11
Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis. ( 21228764 )
2011
12
Topological location and structural importance of the NBCe1-A residues mutated in proximal renal tubular acidosis. ( 20197274 )
2010
13
Oxaliplatin-induced proximal renal tubular acidosis. ( 19937480 )
2010
14
Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis. ( 17661077 )
2008
15
Familial pure proximal renal tubular acidosis--a clinical and genetic study. ( 17881426 )
2008
16
G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. ( 18614622 )
2008
17
Proximal renal tubular acidosis in pregnancy. A case report and literature review. ( 16902307 )
2007
18
Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). ( 16636648 )
2006
19
Proximal renal tubular acidosis. ( 16736440 )
2006
20
The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia. ( 16707554 )
2006
21
Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. ( 15713912 )
2005
22
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. ( 15930088 )
2005
23
Comparison of growth in primary Fanconi syndrome and proximal renal tubular acidosis. ( 15703948 )
2005
24
Transient proximal renal tubular acidosis and Fanconi syndrome in a dog. ( 15154730 )
2004
25
Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis. ( 15085340 )
2004
26
Proximal renal tubular acidosis in TASK2 K+ channel-deficient mice reveals a mechanism for stabilizing bicarbonate transport. ( 15141089 )
2004
27
Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis. ( 12138151 )
2002
28
Molecular basis of proximal renal tubular acidosis. ( 12027212 )
2002
29
Hypopotassemic paralysis: a rare presentation of proximal renal tubular acidosis. ( 11669354 )
2001
30
Proximal renal tubular acidosis associated with osteomalacia. ( 11372811 )
2001
31
Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis. ( 11435462 )
2001
32
Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma. ( 11274232 )
2001
33
Acid and mineral balances and bone in familial proximal renal tubular acidosis. ( 10972690 )
2000
34
Genetic and long-term data on a patient with permanent isolated proximal renal tubular acidosis. ( 11131345 )
2000
35
Severe irreversible proximal renal tubular acidosis and azotaemia secondary to cidofovir. ( 11096296 )
2000
36
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. ( 10545938 )
1999
37
Proximal renal tubular acidosis secondary to FK506 in pediatric liver transplant patients. ( 7579739 )
1995
38
Persistent isolated proximal renal tubular acidosis--a systemic disease with a distinct clinical entity. ( 8142230 )
1994
39
Impaired urinary ammonium excretion in patients with isolated proximal renal tubular acidosis. ( 8286715 )
1993
40
Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria. ( 1335358 )
1992
41
Pseudohypoaldosteronism type II: proximal renal tubular acidosis and dDAVP-sensitive renal hyperkalemia. ( 3777034 )
1986
42
Proximal renal tubular acidosis in methylmalonic acidemia. ( 4020528 )
1985
43
Proximal renal tubular acidosis in metachromatic leukodystrophy. ( 27471 )
1978
44
Proximal renal tubular acidosis and the Fanconi syndrome in a patient with hypergammaglobulinemia. ( 4645708 )
1972
45
Effect of hydrochlorothiazide on proximal renal tubular acidosis in a patient with idiopathic "de toni-debrAc-fanconi syndrome". ( 5688323 )
1968

Variations for Proximal Renal Tubular Acidosis

Expression for Proximal Renal Tubular Acidosis

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

Pathways for Proximal Renal Tubular Acidosis

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 SLC26A1 SLC26A6 SLC4A4 SLC9A2 SLC9A3 SLC9A8
2 11.18 CA2 SLC4A4 SLC9A3
3 11.08 SLC26A6 SLC9A3
4
Show member pathways
10.87 CA2 CA4
5
Show member pathways
10.59 CA14 CA2 CA4
6 10.29 CA2 CA4 SLC4A4 SLC9A3

GO Terms for Proximal Renal Tubular Acidosis

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

id Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.97 CA14 CA4 SLC26A1 SLC26A6 SLC4A4 SLC9A2
2 membrane GO:0016020 9.96 CA14 CA2 CA4 OCRL SLC26A1 SLC26A6
3 plasma membrane GO:0005886 9.65 CA14 CA2 CA4 OCRL SLC26A1 SLC26A6
4 apical plasma membrane GO:0016324 9.5 CA4 SLC26A6 SLC9A3
5 brush border membrane GO:0031526 9.33 CA4 SLC26A6 SLC9A3
6 basolateral plasma membrane GO:0016323 9.02 CA2 CA4 SLC26A1 SLC26A6 SLC4A4

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 SLC26A1 SLC26A6 SLC4A4 SLC9A2 SLC9A3 SLC9A8
2 transmembrane transport GO:0055085 9.73 SLC26A1 SLC26A6 SLC4A4 SLC9A2 SLC9A3 SLC9A8
3 potassium ion transmembrane transport GO:0071805 9.71 SLC9A2 SLC9A3 SLC9A8
4 sodium ion transport GO:0006814 9.71 SLC4A4 SLC9A2 SLC9A3 SLC9A8
5 cation transport GO:0006812 9.65 SLC9A2 SLC9A3 SLC9A8
6 hydrogen ion transmembrane transport GO:1902600 9.63 SLC9A2 SLC9A3 SLC9A8
7 anion transmembrane transport GO:0098656 9.58 SLC26A6 SLC4A4
8 one-carbon metabolic process GO:0006730 9.57 CA2 CA4
9 anion transport GO:0006820 9.56 SLC26A6 SLC4A4
10 sulfate transport GO:0008272 9.52 SLC26A1 SLC26A6
11 sulfate transmembrane transport GO:1902358 9.51 SLC26A1 SLC26A6
12 regulation of pH GO:0006885 9.5 SLC9A2 SLC9A3 SLC9A8
13 oxalate transport GO:0019532 9.49 SLC26A1 SLC26A6
14 positive regulation of dipeptide transmembrane transport GO:2001150 9.43 CA2 SLC26A6
15 bicarbonate transport GO:0015701 9.43 CA14 CA2 CA4 SLC26A1 SLC26A6 SLC4A4
16 sodium ion import across plasma membrane GO:0098719 9.33 SLC9A2 SLC9A3 SLC9A8
17 regulation of intracellular pH GO:0051453 9.17 CA2 SLC26A1 SLC26A6 SLC4A4 SLC9A2 SLC9A3
18 transport GO:0006810 10.02 SLC26A1 SLC26A6 SLC4A4 SLC9A2 SLC9A3 SLC9A8

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.69 CA14 CA2 CA4
2 chloride channel activity GO:0005254 9.55 SLC26A1 SLC26A6
3 inorganic anion exchanger activity GO:0005452 9.54 SLC26A6 SLC4A4
4 anion:anion antiporter activity GO:0015301 9.52 SLC26A1 SLC26A6
5 solute:proton antiporter activity GO:0015299 9.5 SLC9A2 SLC9A3 SLC9A8
6 anion transmembrane transporter activity GO:0008509 9.49 SLC26A6 SLC4A4
7 bicarbonate transmembrane transporter activity GO:0015106 9.48 SLC26A1 SLC26A6
8 sulfate transmembrane transporter activity GO:0015116 9.46 SLC26A1 SLC26A6
9 secondary active sulfate transmembrane transporter activity GO:0008271 9.43 SLC26A1 SLC26A6
10 carbonate dehydratase activity GO:0004089 9.43 CA14 CA2 CA4
11 oxalate transmembrane transporter activity GO:0019531 9.4 SLC26A1 SLC26A6
12 chloride transmembrane transporter activity GO:0015108 9.37 SLC26A1 SLC26A6
13 sodium:proton antiporter activity GO:0015385 9.33 SLC9A2 SLC9A3 SLC9A8
14 potassium:proton antiporter activity GO:0015386 9.13 SLC9A2 SLC9A3 SLC9A8
15 antiporter activity GO:0015297 9.02 SLC26A1 SLC26A6 SLC9A2 SLC9A3 SLC9A8

Sources for Proximal 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....