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 56
Proximal Renal Tubular Acidosis 58 36 29 54
Renal Tubular Acidosis, Type Ii 71
Renal Tubular Acidosis Type 2 58
Renal Tubular Acidosis Ii 56
Rta, Proximal Type 56
Rta, Rate Type 56
Prta 58

Characteristics:

Orphanet epidemiological data:

58
proximal renal tubular acidosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant vs. recessive


HPO:

31
renal tubular acidosis, proximal:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

OMIM 56 179830
KEGG 36 H00429
ICD10 via Orphanet 33 N25.8
UMLS via Orphanet 72 C0268435
Orphanet 58 ORPHA47159
MedGen 41 C0268435
UMLS 71 C0268435

Summaries for Renal Tubular Acidosis, Proximal

KEGG : 36 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 bone, kidney and colon, 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 61)
# 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 10.6
6 rickets 10.5
7 corneal dystrophy, band-shaped 10.4
8 keratopathy 10.4
9 cataract 10.4
10 metabolic acidosis 10.3
11 osteomalacia 10.3
12 intraocular pressure quantitative trait locus 10.3
13 pneumonia 10.2
14 hypophosphatemia 10.2
15 cystinosis 10.2
16 corneal edema 10.2
17 osteopetrosis 10.2
18 glycogen storage disease 10.2
19 hypokalemia 10.2
20 periodic paralysis 10.2
21 autoimmune disease 10.0
22 fanconi renotubular syndrome 1 10.0
23 migraine with or without aura 1 10.0
24 hypokalemic periodic paralysis, type 1 10.0
25 tetralogy of fallot 10.0
26 fanconi-bickel syndrome 10.0
27 metachromatic leukodystrophy 10.0
28 ataxia and polyneuropathy, adult-onset 10.0
29 yemenite deaf-blind hypopigmentation syndrome 10.0
30 psoriatic arthritis 10.0
31 cyanosis, transient neonatal 10.0
32 pseudohypoaldosteronism, type iib 10.0
33 alacrima, achalasia, and mental retardation syndrome 10.0
34 glycogen storage disease ix 10.0
35 ptosis 10.0
36 bone disease 10.0
37 leukodystrophy 10.0
38 fanconi syndrome 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:

31
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 proximal renal tubular acidosis 31 HP:0002049
3 renal tubular acidosis 31 HP:0001947
4 hyperchloremic acidosis 31 HP:0001995

Symptoms via clinical synopsis from OMIM:

56
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:

40
Bone, Kidney, Colon, Liver, Bone Marrow, Eye, Brain

Publications for Renal Tubular Acidosis, Proximal

Articles related to Renal Tubular Acidosis, Proximal:

(show top 50) (show all 178)
# Title Authors PMID Year
1
Familial proximal renal tubular acidosis. A distinct clinical entity. 61 56
888846 1977
2
Inherited renal acidoses. 56
17557941 2007
3
Renal tubular acidosis in infants and children. Clinical course, response to treatment, and prognosis. 56
5018384 1972
4
G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. 54 61
18614622 2008
5
Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis. 54 61
17661077 2008
6
The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia. 54 61
16707554 2006
7
Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). 54 61
16636648 2006
8
Molecular pathophysiology of SLC4 bicarbonate transporters. 54 61
16046910 2005
9
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. 54 61
15930088 2005
10
Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis. 54 61
15085340 2004
11
Localization of Na+-HCO-3 cotransporter (NBC-1) variants in rat and human pancreas. 54 61
12444017 2003
12
Immunolocalization of electrogenic sodium-bicarbonate cotransporters pNBC1 and kNBC1 in the rat eye. 54 61
11592950 2001
13
Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis. 54 61
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. 54 61
11274232 2001
15
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. 54 61
10545938 1999
16
Renal aspects of metabolic acid-base disorders in neonates. 61
30456666 2020
17
Defective bicarbonate reabsorption in Kir4.2 potassium channel deficient mice impairs acid-base balance and ammonia excretion. 61
31870500 2020
18
Proximal renal tubular acidosis with and without Fanconi syndrome. 61
31474092 2019
19
Familial hyperkalemia and hypertension and a hypothesis to explain proximal renal tubular acidosis. 61
31371517 2019
20
Molecular Pathophysiology of Acid-Base Disorders. 61
31300090 2019
21
Extrarenal Signs of Proximal Renal Tubular Acidosis Persist in Nonacidemic Nbce1b/c-Null Mice. 61
31040187 2019
22
Renal Tubular Acidosis Presenting as Nephrogenic Diabetes Insipidus. 61
31064905 2019
23
Renal Tubular Acidosis. 61
30454739 2019
24
A Complicated Pregnancy in an Adult with HNF4A p.R63W-Associated Fanconi Syndrome. 61
31949432 2019
25
Adult Idiopathic Renal Fanconi Syndrome: A Case Report. 61
30899310 2018
26
Acquired Fanconi syndrome secondary to light chain deposition disease associated with monoclonal gammopathy of renal significance: A case report. 61
30200082 2018
27
Clinical Approach to Proximal Renal Tubular Acidosis in Children. 61
30139461 2018
28
[Nephrocalcinosis and proximal tubulopathy in Sjögren's Syndrome.] 61
30273538 2018
29
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. 61
29914390 2018
30
The role of disease-linked residue glutamine-913 in support of the structure and function of the human electrogenic sodium/bicarbonate cotransporter NBCe1-A. 61
29449648 2018
31
Proximal Renal Tubular Acidosis (Fanconi Syndrome) Induced by Apremilast: A Case Report. 61
28823583 2017
32
The role of renal proximal tubule transport in the regulation of blood pressure. 61
28428931 2017
33
A Rare Case of Transient Proximal Renal Tubular Acidosis in Pregnancy. 61
29333305 2017
34
Gonadotrophin abnormalities in an infant with Lowe syndrome. 61
28469921 2017
35
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation. 61
27540713 2016
36
Distal renal tubular acidosis without renal impairment after use of tenofovir: a case report. 61
27866471 2016
37
A novel mutant Na+ /HCO3- cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis. 61
27338124 2016
38
Cystinosis in Eastern Turkey. 61
27269891 2016
39
Successful treatment of proximal renal tubular acidosis and Fanconi syndrome with vitamin D replacement. 61
27424705 2016
40
Sodium valproate-induced Fanconi type proximal renal tubular acidosis. 61
26823359 2016
41
Transfusion-dependent thalassaemic patients with renal Fanconi syndrome due to deferasirox use. 61
26016559 2015
42
A case of severe osteomalacia caused by Tubulointerstitial nephritis with Fanconi syndrome in asymptomotic primary biliary cirrhosis. 61
26554665 2015
43
Drug-induced acid-base disorders. 61
25370778 2015
44
Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency. 61
25894566 2015
45
Therapeutic effect of prenatal alkalization and PTC124 in Na(+)/HCO3(-) cotransporter 1 p.W516* knock-in mice. 61
25716530 2015
46
An uncommon presentation of Sjögren's syndrome and brucellosis. 61
25108849 2014
47
NBCe1 as a model carrier for understanding the structure-function properties of Na⁺ -coupled SLC4 transporters in health and disease. 61
24515290 2014
48
NBCe1A dimer assemble visualized by bimolecular fluorescence complementation. 61
24477681 2014
49
Renal tubular acidosis in Sjögren's syndrome: a case series. 61
25171149 2014
50
Prevention of the disrupted enamel phenotype in Slc4a4-null mice using explant organ culture maintained in a living host kidney capsule. 61
24828138 2014

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:

36
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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