Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis.
|
17661077 |
2008 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).
|
16636648 |
2006 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis.
|
15713912 |
2005 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.
|
15930088 |
2005 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.
|
15471865 |
2004 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
|
10545938 |
1999 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
|
10545938 |
1999 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Renal tubular acidosis
|
0.540 |
Biomarker
|
phenotype |
MGD |
Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis.
|
21228764 |
2011 |
Renal tubular acidosis
|
0.540 |
GeneticVariation
|
phenotype |
LHGDN |
G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.
|
18614622 |
2008 |
Renal tubular acidosis
|
0.540 |
Biomarker
|
phenotype |
CTD_human |
G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.
|
18614622 |
2008 |
Renal tubular acidosis
|
0.540 |
GeneticVariation
|
phenotype |
LHGDN |
The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia.
|
16707554 |
2006 |
Renal tubular acidosis
|
0.540 |
Biomarker
|
phenotype |
LHGDN |
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.
|
15930088 |
2005 |
Renal tubular acidosis
|
0.540 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the gene SLC4A4, encoding Na+-HCO3- cotransporter (NBC-1), have been found in proximal RTA with ocular abnormalities; in the gene SLC4A1, encoding Cl(-)-HCO3- exchanger (AE1), in autosomal dominant distal RTA; in the gene ATP6B1, encoding B1 subunit of H+-ATPase, in autosomal recessive distal RTA with sensorineural deafness; and in the gene CA2, encoding carbonic anhydrase II, in autosomal recessive osteopetrosis.
|
11045400 |
2000 |
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alkali therapy remains the preferred treatment for pRTA, but it is unclear which nonrenal signs are secondary to acidemia and which are a direct consequence of NBCe1 loss from nonrenal sites (such as the eye and enamel organ) and therefore require separate therapy.
|
31040187 |
2019 |
Renal Tubular Acidosis, Type II
|
0.500 |
Biomarker
|
disease |
BEFREE |
In the proximal tubule, mutations of solute carrier 4A4 (SLC4A4) (electrogenic Na<sup>+</sup>/HCO<sub>3</sub><sup>-</sup>-cotransporter Na<sup>+</sup>/bicarbonate cotransporter e1 [NBCe1]) and other genes such as CLCN5 (Cl<sup>-</sup>/H<sup>+</sup>-antiporter), SLC2A2 (GLUT2 glucose transporter), or EHHADH (enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase) causing more generalized proximal tubule dysfunction can cause proximal renal tubular acidosis resulting from bicarbonate wasting and reduced ammoniagenesis.
|
31300090 |
2019 |
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of congenital proximal renal tubular acidosis carrying compound heterozygous SLC4A4 mutations in exon-intron boundary regions.
|
29914390 |
2018 |
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A 3D homology model predicts that Gln913 is located in the gating domain of NBCe1 and neighbours the 3D space occupied by another pRTA-associated residue (Arg881), highlighting an important and conformationally-sensitive region of NBCe1.
|
29449648 |
2018 |
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Proximal renal tubular acidosis (pRTA) is a rare, recessively-inherited disease characterized by abnormally acidic blood, blindness, as well as below average height and weight. pRTA is typically associated with homozygous mutation of the solute carrier 4 family gene SLC4A4.
|
27338124 |
2016 |
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NBCe1 cause proximal renal tubular acidosis (pRTA) with neurologic and ophthalmologic extrarenal manifestations.
|
24515290 |
2014 |
Renal Tubular Acidosis, Type II
|
0.500 |
Biomarker
|
disease |
BEFREE |
Slc4a4-null mice are a model of proximal renal tubular acidosis (pRTA).
|
24828138 |
2014 |