PRTA
MCID: RNL115
MIFTS: 31

Renal Tubular Acidosis, Proximal (PRTA)

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Renal Tubular Acidosis, Proximal

MalaCards integrated aliases for Renal Tubular Acidosis, Proximal:

Name: Renal Tubular Acidosis, Proximal 57
Proximal Renal Tubular Acidosis 59 37 29 55
Renal Tubular Acidosis, Type Ii 72
Renal Tubular Acidosis Type 2 59
Renal Tubular Acidosis Ii 57
Rta, Proximal Type 57
Rta, Rate Type 57
Prta 59

Characteristics:

Orphanet epidemiological data:

59
proximal renal tubular acidosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant vs. recessive


HPO:

32
renal tubular acidosis, proximal:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

OMIM 57 179830
KEGG 37 H00429
ICD10 via Orphanet 34 N25.8
UMLS via Orphanet 73 C0268435
Orphanet 59 ORPHA47159
MedGen 42 C0268435
UMLS 72 C0268435

Summaries for Renal Tubular Acidosis, Proximal

KEGG : 37
Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Proximal RTA (type 2) is caused by an impairment of bicarbonate reabsorption in the proximal tubules, resulting in low renal bicarbonate threshold. Mutations in the gene SLC4A4, encoding Na+-HCO3- cotransporter (NBC-1), have been found in proximal RTA.

MalaCards based summary : Renal Tubular Acidosis, Proximal, also known as proximal renal tubular acidosis, is related to renal tubular acidosis, proximal, with ocular abnormalities and mental retardation and autosomal dominant proximal renal tubular acidosis. An important gene associated with Renal Tubular Acidosis, Proximal is SLC4A4 (Solute Carrier Family 4 Member 4), and among its related pathways/superpathways is Proximal tubule bicarbonate reclamation. The drugs carbamide peroxide and Calcium have been mentioned in the context of this disorder. Affiliated tissues include kidney, colon and liver, and related phenotypes are short stature and proximal renal tubular acidosis

More information from OMIM: 179830

Related Diseases for Renal Tubular Acidosis, Proximal

Diseases in the Renal Tubular Acidosis, Proximal family:

Autosomal Dominant Proximal Renal Tubular Acidosis

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 13.0
2 autosomal dominant proximal renal tubular acidosis 12.6
3 say syndrome 11.4
4 dent disease 2 11.4
5 renal tubular acidosis 10.5
6 rickets 10.5
7 corneal dystrophy, band-shaped 10.4
8 keratopathy 10.4
9 cataract 10.4
10 osteomalacia 10.3
11 intraocular pressure quantitative trait locus 10.3
12 metabolic acidosis 10.3
13 pneumonia 10.2
14 hypophosphatemia 10.2
15 corneal edema 10.2
16 osteopetrosis 10.2
17 glycogen storage disease 10.2
18 hypokalemia 10.2
19 periodic paralysis 10.2
20 autoimmune disease 10.0
21 fanconi renotubular syndrome 1 10.0
22 migraine with or without aura 1 10.0
23 hypokalemic periodic paralysis, type 1 10.0
24 tetralogy of fallot 10.0
25 fanconi-bickel syndrome 10.0
26 metachromatic leukodystrophy 10.0
27 ataxia and polyneuropathy, adult-onset 10.0
28 yemenite deaf-blind hypopigmentation syndrome 10.0
29 psoriatic arthritis 10.0
30 cyanosis, transient neonatal 10.0
31 pseudohypoaldosteronism, type iib 10.0
32 alacrima, achalasia, and mental retardation syndrome 10.0
33 glycogen storage disease ix 10.0
34 ptosis 10.0
35 bone disease 10.0
36 leukodystrophy 10.0
37 fanconi syndrome 10.0
38 cystinosis 10.0
39 primary hyperparathyroidism 10.0
40 secondary hyperparathyroidism 10.0
41 guillain-barre syndrome 10.0
42 hyperparathyroidism 10.0
43 hypothyroidism 10.0
44 methylmalonic acidemia 10.0
45 leptospirosis 10.0
46 corneal dystrophy 10.0
47 membranoproliferative glomerulonephritis 10.0
48 glomerulonephritis 10.0
49 osteitis fibrosa 10.0
50 bone inflammation disease 10.0

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



Diseases related to Renal Tubular Acidosis, Proximal

Symptoms & Phenotypes for Renal Tubular Acidosis, Proximal

Human phenotypes related to Renal Tubular Acidosis, Proximal:

32
# Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 proximal renal tubular acidosis 32 HP:0002049
3 renal tubular acidosis 32 HP:0001947
4 hyperchloremic acidosis 32 HP:0001995

Symptoms via clinical synopsis from OMIM:

57
Growth:
short stature

Skel:
no rickets
no osteomalacia

Metabolic:
hyperchloremic acidosis

Lab:
normal plasma creatinine
normal urinary acidification
urinary bicarbonate wasting
no hypercalciuria

Clinical features from OMIM:

179830

Drugs & Therapeutics for Renal Tubular Acidosis, Proximal

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved 124-43-6
2
Calcium Approved, Nutraceutical 7440-70-2 271
3 Calcium, Dietary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH) Unknown status NCT03268460

Search NIH Clinical Center for Renal Tubular Acidosis, Proximal

Genetic Tests for Renal Tubular Acidosis, Proximal

Genetic tests related to Renal Tubular Acidosis, Proximal:

# Genetic test Affiliating Genes
1 Proximal Renal Tubular Acidosis 29

Anatomical Context for Renal Tubular Acidosis, Proximal

MalaCards organs/tissues related to Renal Tubular Acidosis, Proximal:

41
Kidney, Colon, Liver, Bone, Brain, Bone Marrow, Eye

Publications for Renal Tubular Acidosis, Proximal

Articles related to Renal Tubular Acidosis, Proximal:

(show top 50) (show all 175)
# Title Authors PMID Year
1
Familial proximal renal tubular acidosis. A distinct clinical entity. 38 8
888846 1977
2
Inherited renal acidoses. 8
17557941 2007
3
Renal tubular acidosis in infants and children. Clinical course, response to treatment, and prognosis. 8
5018384 1972
4
G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. 9 38
18614622 2008
5
Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis. 9 38
17661077 2008
6
The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia. 9 38
16707554 2006
7
Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). 9 38
16636648 2006
8
Molecular pathophysiology of SLC4 bicarbonate transporters. 9 38
16046910 2005
9
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. 9 38
15930088 2005
10
Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis. 9 38
15085340 2004
11
Localization of Na+-HCO-3 cotransporter (NBC-1) variants in rat and human pancreas. 9 38
12444017 2003
12
Immunolocalization of electrogenic sodium-bicarbonate cotransporters pNBC1 and kNBC1 in the rat eye. 9 38
11592950 2001
13
Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis. 9 38
11435462 2001
14
Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma. 9 38
11274232 2001
15
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. 9 38
10545938 1999
16
Familial hyperkalemia and hypertension and a hypothesis to explain proximal renal tubular acidosis. 38
31371517 2019
17
Molecular Pathophysiology of Acid-Base Disorders. 38
31300090 2019
18
Extrarenal Signs of Proximal Renal Tubular Acidosis Persist in Nonacidemic Nbce1b/c-Null Mice. 38
31040187 2019
19
Renal Tubular Acidosis Presenting as Nephrogenic Diabetes Insipidus. 38
31064905 2019
20
Renal Tubular Acidosis. 38
30454739 2019
21
Adult Idiopathic Renal Fanconi Syndrome: A Case Report. 38
30899310 2018
22
Renal aspects of metabolic acid-base disorders in neonates. 38
30456666 2018
23
Acquired Fanconi syndrome secondary to light chain deposition disease associated with monoclonal gammopathy of renal significance: A case report. 38
30200082 2018
24
Clinical Approach to Proximal Renal Tubular Acidosis in Children. 38
30139461 2018
25
[Nephrocalcinosis and proximal tubulopathy in Sjögren's Syndrome.] 38
30273538 2018
26
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. 38
29914390 2018
27
The role of disease-linked residue glutamine-913 in support of the structure and function of the human electrogenic sodium/bicarbonate cotransporter NBCe1-A. 38
29449648 2018
28
Proximal Renal Tubular Acidosis (Fanconi Syndrome) Induced by Apremilast: A Case Report. 38
28823583 2017
29
The role of renal proximal tubule transport in the regulation of blood pressure. 38
28428931 2017
30
A Rare Case of Transient Proximal Renal Tubular Acidosis in Pregnancy. 38
29333305 2017
31
Gonadotrophin abnormalities in an infant with Lowe syndrome. 38
28469921 2017
32
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation. 38
27540713 2016
33
A novel mutant Na+ /HCO3- cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis. 38
27338124 2016
34
Distal renal tubular acidosis without renal impairment after use of tenofovir: a case report. 38
27866471 2016
35
Cystinosis in Eastern Turkey. 38
27269891 2016
36
Successful treatment of proximal renal tubular acidosis and Fanconi syndrome with vitamin D replacement. 38
27424705 2016
37
Sodium valproate-induced Fanconi type proximal renal tubular acidosis. 38
26823359 2016
38
Transfusion-dependent thalassaemic patients with renal Fanconi syndrome due to deferasirox use. 38
26016559 2015
39
A case of severe osteomalacia caused by Tubulointerstitial nephritis with Fanconi syndrome in asymptomotic primary biliary cirrhosis. 38
26554665 2015
40
Drug-induced acid-base disorders. 38
25370778 2015
41
Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency. 38
25894566 2015
42
Therapeutic effect of prenatal alkalization and PTC124 in Na(+)/HCO3(-) cotransporter 1 p.W516* knock-in mice. 38
25716530 2015
43
An uncommon presentation of Sjögren's syndrome and brucellosis. 38
25108849 2014
44
NBCe1 as a model carrier for understanding the structure-function properties of Na⁺ -coupled SLC4 transporters in health and disease. 38
24515290 2014
45
NBCe1A dimer assemble visualized by bimolecular fluorescence complementation. 38
24477681 2014
46
Prevention of the disrupted enamel phenotype in Slc4a4-null mice using explant organ culture maintained in a living host kidney capsule. 38
24828138 2014
47
Renal tubular acidosis in Sjögren's syndrome: a case series. 38
25171149 2014
48
Roles of renal proximal tubule transport in acid/base balance and blood pressure regulation. 38
24982885 2014
49
Proximal renal tubular acidosis mediated by mutations in NBCe1-A: unraveling the transporter's structure-functional properties. 38
24391589 2013
50
A substrate access tunnel in the cytosolic domain is not an essential feature of the solute carrier 4 (SLC4) family of bicarbonate transporters. 38
24121512 2013

Variations for Renal Tubular Acidosis, Proximal

Expression for Renal Tubular Acidosis, Proximal

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

Pathways for Renal Tubular Acidosis, Proximal

Pathways related to Renal Tubular Acidosis, Proximal according to KEGG:

37
# Name Kegg Source Accession
1 Proximal tubule bicarbonate reclamation hsa04964

GO Terms for Renal Tubular Acidosis, Proximal

Sources for Renal Tubular Acidosis, Proximal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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