MCID: RNL115
MIFTS: 31

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 58
Proximal Renal Tubular Acidosis 60 38 30 56
Renal Tubular Acidosis, Type Ii 74
Renal Tubular Acidosis Type 2 60
Renal Tubular Acidosis Ii 58
Rta, Proximal Type 58
Rta, Rate Type 58
Prta 60

Characteristics:

Orphanet epidemiological data:

60
proximal renal tubular acidosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant vs. recessive


HPO:

33
renal tubular acidosis, proximal:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

OMIM 58 179830
KEGG 38 H00429
ICD10 via Orphanet 35 N25.8
UMLS via Orphanet 75 C0268435
Orphanet 60 ORPHA47159
MedGen 43 C0268435
UMLS 74 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 drugs carbamide peroxide and Calcium have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and small intestine, and related phenotypes are short stature and proximal renal tubular acidosis

Description from OMIM: 179830

Related Diseases for Renal Tubular Acidosis, Proximal

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:

33
# Description HPO Frequency HPO Source Accession
1 short stature 33 HP:0004322
2 proximal renal tubular acidosis 33 HP:0002049
3 renal tubular acidosis 33 HP:0001947
4 hyperchloremic acidosis 33 HP:0001995

Symptoms via clinical synopsis from OMIM:

58
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 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 30

Anatomical Context for Renal Tubular Acidosis, Proximal

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

42
Kidney, Bone, Small Intestine

Publications for Renal Tubular Acidosis, Proximal

Articles related to Renal Tubular Acidosis, Proximal:

(show top 50) (show all 67)
# Title Authors Year
1
Extrarenal Signs of Proximal Renal Tubular Acidosis Persist in Nonacidemic Nbce1b/c-Null Mice. ( 31040187 )
2019
2
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
3
Clinical Approach to Proximal Renal Tubular Acidosis in Children. ( 30139461 )
2018
4
Proximal Renal Tubular Acidosis (Fanconi Syndrome) Induced by Apremilast: A Case Report. ( 28823583 )
2017
5
A Rare Case of Transient Proximal Renal Tubular Acidosis in Pregnancy. ( 29333305 )
2017
6
Successful treatment of proximal renal tubular acidosis and Fanconi syndrome with vitamin D replacement. ( 27424705 )
2016
7
A novel mutant Na+ /HCO3- cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis. ( 27338124 )
2016
8
Sodium valproate-induced Fanconi type proximal renal tubular acidosis. ( 26823359 )
2016
9
Topology of NBCe1 protein transmembrane segment 1 and structural effect of proximal renal tubular acidosis (pRTA) S427L mutation. ( 23362273 )
2013
10
Missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis. ( 23636456 )
2013
11
Missense mutations and proximal RTA. Have we reached a new threshold? Focus on "missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis". ( 23720023 )
2013
12
Structure, function, and regulation of the SLC4 NBCe1 transporter and its role in causing proximal renal tubular acidosis. ( 23917030 )
2013
13
Proximal renal tubular acidosis mediated by mutations in NBCe1-A: unraveling the transporter's structure-functional properties. ( 24391589 )
2013
14
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
15
Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. ( 23235953 )
2012
16
Hypokalemic periodic paralysis due to proximal renal tubular acidosis in a case with membranoproliferative glomerulonephritis. ( 22616344 )
2011
17
Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis. ( 21228764 )
2011
18
Oxaliplatin-induced proximal renal tubular acidosis. ( 19937480 )
2010
19
Topological location and structural importance of the NBCe1-A residues mutated in proximal renal tubular acidosis. ( 20197274 )
2010
20
Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis. ( 17661077 )
2008
21
Familial pure proximal renal tubular acidosis--a clinical and genetic study. ( 17881426 )
2008
22
G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. ( 18614622 )
2008
23
Proximal renal tubular acidosis in pregnancy. A case report and literature review. ( 16902307 )
2007
24
The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia. ( 16707554 )
2006
25
Proximal renal tubular acidosis. ( 16736440 )
2006
26
Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). ( 16636648 )
2006
27
Comparison of growth in primary Fanconi syndrome and proximal renal tubular acidosis. ( 15703948 )
2005
28
Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. ( 15713912 )
2005
29
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. ( 15930088 )
2005
30
Transient proximal renal tubular acidosis and Fanconi syndrome in a dog. ( 15154730 )
2004
31
Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis. ( 15085340 )
2004
32
Proximal renal tubular acidosis in TASK2 K+ channel-deficient mice reveals a mechanism for stabilizing bicarbonate transport. ( 15141089 )
2004
33
Molecular basis of proximal renal tubular acidosis. ( 12027212 )
2002
34
Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis. ( 12138151 )
2002
35
Proximal renal tubular acidosis associated with osteomalacia. ( 11372811 )
2001
36
Hypopotassemic paralysis: a rare presentation of proximal renal tubular acidosis. ( 11669354 )
2001
37
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
38
Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis. ( 11435462 )
2001
39
Acid and mineral balances and bone in familial proximal renal tubular acidosis. ( 10972690 )
2000
40
Severe irreversible proximal renal tubular acidosis and azotaemia secondary to cidofovir. ( 11096296 )
2000
41
Genetic and long-term data on a patient with permanent isolated proximal renal tubular acidosis. ( 11131345 )
2000
42
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. ( 10545938 )
1999
43
Proximal renal tubular acidosis secondary to FK506 in pediatric liver transplant patients. ( 7579739 )
1995
44
Persistent isolated proximal renal tubular acidosis--a systemic disease with a distinct clinical entity. ( 8142230 )
1994
45
Impaired urinary ammonium excretion in patients with isolated proximal renal tubular acidosis. ( 8286715 )
1993
46
Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria. ( 1335358 )
1992
47
What is the underlying defect in patients with isolated, proximal renal tubular acidosis? ( 2817016 )
1989
48
Proximal renal tubular acidosis associated with glycogen storage disease, type 9. ( 3164568 )
1988
49
Increased renal threshold of bicarbonate due to carbon dioxide retention associated with proximal renal tubular acidosis. ( 3583556 )
1987
50
Proximal renal tubular acidosis in a child with type 1 glycogen storage disease. ( 3457521 )
1986

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:

38
# 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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