MCID: RNL115
MIFTS: 28

Renal Tubular Acidosis, Proximal

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 73
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


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

OMIM 57 179830
Orphanet 59 ORPHA47159
UMLS via Orphanet 74 C0268435
ICD10 via Orphanet 34 N25.8
MedGen 42 C0268435
KEGG 37 H00429
UMLS 73 C0268435

Summaries for Renal Tubular Acidosis, Proximal

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 drug Calcium, Dietary has been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and bone, and related phenotypes are renal tubular acidosis and hyperchloremic acidosis

Description 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:

# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 12.6
2 autosomal dominant proximal renal tubular acidosis 12.3
3 renal tubular acidosis 10.2
4 renal tubular acidosis, distal 9.9
5 osteoporosis 9.9

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

Symptoms via clinical synopsis from OMIM:

57
Metabolic:
hyperchloremic acidosis

Skel:
no rickets
no osteomalacia

Growth:
short stature

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


Clinical features from OMIM:

179830

Human phenotypes related to Renal Tubular Acidosis, Proximal:

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

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 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 Not yet recruiting 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
Liver, Kidney, Bone

Publications for Renal Tubular Acidosis, Proximal

Articles related to Renal Tubular Acidosis, Proximal:

(show all 49)
# Title Authors Year
1
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
2
A Rare Case of Transient Proximal Renal Tubular Acidosis in Pregnancy. ( 29333305 )
2017
3
Proximal Renal Tubular Acidosis (Fanconi syndrome) Induced by Apremilast: A Case Report. ( 28823583 )
2017
4
Successful treatment of proximal renal tubular acidosis and Fanconi syndrome with vitamin D replacement. ( 27424705 )
2016
5
Sodium valproate-induced Fanconi type proximal renal tubular acidosis. ( 26823359 )
2016
6
A novel mutant Na(+) /HCO3(-) cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis. ( 27338124 )
2016
7
Proximal renal tubular acidosis mediated by mutations in NBCe1-A: unraveling the transporter's structure-functional properties. ( 24391589 )
2013
8
Missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis. ( 23636456 )
2013
9
Structure, function, and regulation of the SLC4 NBCe1 transporter and its role in causing proximal renal tubular acidosis. ( 23917030 )
2013
10
Topology of NBCe1 protein transmembrane segment 1 and structural effect of proximal renal tubular acidosis (pRTA) S427L mutation. ( 23362273 )
2013
11
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
12
Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. ( 23235953 )
2012
13
Hypokalemic periodic paralysis due to proximal renal tubular acidosis in a case with membranoproliferative glomerulonephritis. ( 22616344 )
2011
14
Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis. ( 21228764 )
2011
15
Oxaliplatin-induced proximal renal tubular acidosis. ( 19937480 )
2010
16
Topological location and structural importance of the NBCe1-A residues mutated in proximal renal tubular acidosis. ( 20197274 )
2010
17
G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. ( 18614622 )
2008
18
Familial pure proximal renal tubular acidosis--a clinical and genetic study. ( 17881426 )
2008
19
Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis. ( 17661077 )
2008
20
Proximal renal tubular acidosis in pregnancy. A case report and literature review. ( 16902307 )
2007
21
The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia. ( 16707554 )
2006
22
Proximal renal tubular acidosis. ( 16736440 )
2006
23
Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). ( 16636648 )
2006
24
Comparison of growth in primary Fanconi syndrome and proximal renal tubular acidosis. ( 15703948 )
2005
25
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. ( 15930088 )
2005
26
Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. ( 15713912 )
2005
27
Transient proximal renal tubular acidosis and Fanconi syndrome in a dog. ( 15154730 )
2004
28
Proximal renal tubular acidosis in TASK2 K+ channel-deficient mice reveals a mechanism for stabilizing bicarbonate transport. ( 15141089 )
2004
29
Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis. ( 15085340 )
2004
30
Molecular basis of proximal renal tubular acidosis. ( 12027212 )
2002
31
Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis. ( 12138151 )
2002
32
Hypopotassemic paralysis: a rare presentation of proximal renal tubular acidosis. ( 11669354 )
2001
33
Proximal renal tubular acidosis associated with osteomalacia. ( 11372811 )
2001
34
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
35
Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis. ( 11435462 )
2001
36
Genetic and long-term data on a patient with permanent isolated proximal renal tubular acidosis. ( 11131345 )
2000
37
Severe irreversible proximal renal tubular acidosis and azotaemia secondary to cidofovir. ( 11096296 )
2000
38
Acid and mineral balances and bone in familial proximal renal tubular acidosis. ( 10972690 )
2000
39
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. ( 10545938 )
1999
40
Proximal renal tubular acidosis secondary to FK506 in pediatric liver transplant patients. ( 7579739 )
1995
41
Persistent isolated proximal renal tubular acidosis--a systemic disease with a distinct clinical entity. ( 8142230 )
1994
42
Impaired urinary ammonium excretion in patients with isolated proximal renal tubular acidosis. ( 8286715 )
1993
43
Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria. ( 1335358 )
1992
44
Pseudohypoaldosteronism type II: proximal renal tubular acidosis and dDAVP-sensitive renal hyperkalemia. ( 3777034 )
1986
45
Proximal renal tubular acidosis in methylmalonic acidemia. ( 4020528 )
1985
46
Proximal renal tubular acidosis in metachromatic leukodystrophy. ( 27471 )
1978
47
Primary proximal renal tubular acidosis; A therapeutical approach and long term follow-up. ( 1017986 )
1976
48
Proximal renal tubular acidosis and the Fanconi syndrome in a patient with hypergammaglobulinemia. ( 4645708 )
1972
49
Effect of hydrochlorothiazide on proximal renal tubular acidosis in a patient with idiopathic "de toni-debrAc-fanconi syndrome". ( 5688323 )
1968

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 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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