MCID: RNL047
MIFTS: 35

Renal Tubular Acidosis, Distal, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Renal Tubular Acidosis, Distal, Autosomal Recessive

MalaCards integrated aliases for Renal Tubular Acidosis, Distal, Autosomal Recessive:

Name: Renal Tubular Acidosis, Distal, Autosomal Recessive 57 53 75 29 13 55 6 73
Rtadr 57 53 75
Rta, Distal, Autosomal Recessive 57 53
Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss, Included 53
Distal Renal Tubular Acidosis with Late-Onset Sensorineural Hearing Loss 75
Renal Tubular Acidosis, Autosomal Recessive, with Preserved Hearing 57
Renal Tubular Acidosis, Autosomal Recessive with Preserved Hearing 53
Acidosis, Tubular, Renal, Distal, Autosomal Recessive 40
Distal Renal Tubular Acidosis with Preserved Hearing 75
Autosomal Recessive Distal Renal Tubular Acidosis 53
Autosomal Recessive Distal Rta 75

Characteristics:

HPO:

32
renal tubular acidosis, distal, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Renal Tubular Acidosis, Distal, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Renal tubular acidosis, distal, autosomal recessive: An autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification.

MalaCards based summary : Renal Tubular Acidosis, Distal, Autosomal Recessive, also known as rtadr, is related to renal tubular acidosis, distal and renal tubular acidosis. An important gene associated with Renal Tubular Acidosis, Distal, Autosomal Recessive is ATP6V0A4 (ATPase H+ Transporting V0 Subunit A4), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Affiliated tissues include kidney, and related phenotypes are nephrocalcinosis and failure to thrive

Description from OMIM: 602722

Related Diseases for Renal Tubular Acidosis, Distal, Autosomal Recessive

Graphical network of the top 20 diseases related to Renal Tubular Acidosis, Distal, Autosomal Recessive:



Diseases related to Renal Tubular Acidosis, Distal, Autosomal Recessive

Symptoms & Phenotypes for Renal Tubular Acidosis, Distal, Autosomal Recessive

Clinical features from OMIM:

602722

Human phenotypes related to Renal Tubular Acidosis, Distal, Autosomal Recessive:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nephrocalcinosis 32 hallmark (90%) HP:0000121
2 failure to thrive 32 HP:0001508
3 growth delay 32 HP:0001510
4 dehydration 32 HP:0001944
5 vomiting 32 HP:0002013
6 distal renal tubular acidosis 32 obligate (100%) HP:0008341
7 bilateral sensorineural hearing impairment 32 HP:0008619

GenomeRNAi Phenotypes related to Renal Tubular Acidosis, Distal, Autosomal Recessive according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.32 SLC4A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.32 ATP6V0A4 SLC4A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.32 ATP6V0A4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.32 ATP6V0A4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.32 ATP6V0A4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.32 SLC4A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.32 ATP6V0A4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.32 SLC4A1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.32 SLC4A1

MGI Mouse Phenotypes related to Renal Tubular Acidosis, Distal, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.13 ATP6V0A4 ATP6V1B1 SLC4A1
2 taste/olfaction MP:0005394 8.62 ATP6V0A4 ATP6V1B1

Drugs & Therapeutics for Renal Tubular Acidosis, Distal, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Renal Tubular Acidosis, Distal, Autosomal Recessive

Genetic Tests for Renal Tubular Acidosis, Distal, Autosomal Recessive

Genetic tests related to Renal Tubular Acidosis, Distal, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Renal Tubular Acidosis, Distal, Autosomal Recessive 29 ATP6V0A4

Anatomical Context for Renal Tubular Acidosis, Distal, Autosomal Recessive

MalaCards organs/tissues related to Renal Tubular Acidosis, Distal, Autosomal Recessive:

41
Kidney

Publications for Renal Tubular Acidosis, Distal, Autosomal Recessive

Articles related to Renal Tubular Acidosis, Distal, Autosomal Recessive:

# Title Authors Year
1
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116- kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. ( 10973252 )
2000

Variations for Renal Tubular Acidosis, Distal, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Acidosis, Distal, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 ATP6V0A4 p.Pro524Leu VAR_017255 rs121908368
2 ATP6V0A4 p.Met580Thr VAR_017256 rs3807153
3 ATP6V0A4 p.Gly820Arg VAR_017257 rs267606671
4 ATP6V0A4 p.Gly175Asp VAR_020993
5 ATP6V0A4 p.Arg449His VAR_020995
6 ATP6V0A4 p.Arg807Gln VAR_020996 rs28939081

ClinVar genetic disease variations for Renal Tubular Acidosis, Distal, Autosomal Recessive:

6
(show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP6V0A4 NM_020632.2(ATP6V0A4): c.2257C> T (p.Gln753Ter) single nucleotide variant Pathogenic rs121908367 GRCh37 Chromosome 7, 138400509: 138400509
2 ATP6V0A4 NM_020632.2(ATP6V0A4): c.2257C> T (p.Gln753Ter) single nucleotide variant Pathogenic rs121908367 GRCh38 Chromosome 7, 138715764: 138715764
3 ATP6V0A4 NM_020632.2(ATP6V0A4): c.2458G> A (p.Gly820Arg) single nucleotide variant Pathogenic rs267606671 GRCh37 Chromosome 7, 138391434: 138391434
4 ATP6V0A4 NM_020632.2(ATP6V0A4): c.2458G> A (p.Gly820Arg) single nucleotide variant Pathogenic rs267606671 GRCh38 Chromosome 7, 138706689: 138706689
5 ATP6V0A4 NM_020632.2(ATP6V0A4): c.1691+1G> A single nucleotide variant Pathogenic rs587776615 GRCh37 Chromosome 7, 138418880: 138418880
6 ATP6V0A4 NM_020632.2(ATP6V0A4): c.1691+1G> A single nucleotide variant Pathogenic rs587776615 GRCh38 Chromosome 7, 138734135: 138734135
7 ATP6V0A4 NM_020632.2(ATP6V0A4): c.105delT (p.Gln36Serfs) deletion Pathogenic rs587776616 GRCh37 Chromosome 7, 138455888: 138455888
8 ATP6V0A4 NM_020632.2(ATP6V0A4): c.105delT (p.Gln36Serfs) deletion Pathogenic rs587776616 GRCh38 Chromosome 7, 138771143: 138771143
9 ATP6V0A4 NM_020632.2(ATP6V0A4): c.418-1G> A single nucleotide variant Pathogenic rs587776617 GRCh37 Chromosome 7, 138447180: 138447180
10 ATP6V0A4 NM_020632.2(ATP6V0A4): c.418-1G> A single nucleotide variant Pathogenic rs587776617 GRCh38 Chromosome 7, 138762435: 138762435
11 ATP6V0A4 ATP6V0A4, 1-BP DEL, GLN276 deletion Pathogenic
12 ATP6V0A4 NM_020632.2(ATP6V0A4): c.1571C> T (p.Pro524Leu) single nucleotide variant Pathogenic rs121908368 GRCh37 Chromosome 7, 138424286: 138424286
13 ATP6V0A4 NM_020632.2(ATP6V0A4): c.1571C> T (p.Pro524Leu) single nucleotide variant Pathogenic rs121908368 GRCh38 Chromosome 7, 138739541: 138739541

Expression for Renal Tubular Acidosis, Distal, Autosomal Recessive

Search GEO for disease gene expression data for Renal Tubular Acidosis, Distal, Autosomal Recessive.

Pathways for Renal Tubular Acidosis, Distal, Autosomal Recessive

Pathways related to Renal Tubular Acidosis, Distal, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 ATP6V0A4 ATP6V1B1 SLC4A1
2
Show member pathways
11.86 ATP6V0A4 ATP6V1B1
3 11.44 ATP6V0A4 ATP6V1B1
4
Show member pathways
11.24 ATP6V0A4 ATP6V1B1 SLC4A1
5
Show member pathways
11.22 ATP6V0A4 ATP6V1B1
6 10.91 ATP6V0A4 ATP6V1B1

GO Terms for Renal Tubular Acidosis, Distal, Autosomal Recessive

Cellular components related to Renal Tubular Acidosis, Distal, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.16 ATP6V0A4 ATP6V1B1
2 basolateral plasma membrane GO:0016323 8.96 ATP6V1B1 SLC4A1
3 vacuolar proton-transporting V-type ATPase complex GO:0016471 8.62 ATP6V0A4 ATP6V1B1

Biological processes related to Renal Tubular Acidosis, Distal, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.54 ATP6V0A4 ATP6V1B1 SLC4A1
2 ion transmembrane transport GO:0034220 9.49 ATP6V0A4 ATP6V1B1
3 sensory perception of sound GO:0007605 9.48 ATP6V0A4 ATP6V1B1
4 proton transmembrane transport GO:1902600 9.46 ATP6V0A4 ATP6V1B1
5 ossification GO:0001503 9.43 ATP6V0A4 ATP6V1B1
6 insulin receptor signaling pathway GO:0008286 9.4 ATP6V0A4 ATP6V1B1
7 excretion GO:0007588 9.32 ATP6V0A4 ATP6V1B1
8 transferrin transport GO:0033572 9.26 ATP6V0A4 ATP6V1B1
9 ATP hydrolysis coupled proton transport GO:0015991 9.16 ATP6V0A4 ATP6V1B1
10 phagosome acidification GO:0090383 8.96 ATP6V0A4 ATP6V1B1
11 regulation of pH GO:0006885 8.62 ATP6V0A4 ATP6V1B1

Molecular functions related to Renal Tubular Acidosis, Distal, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transporter activity GO:0015078 8.62 ATP6V0A4 ATP6V1B1

Sources for Renal Tubular Acidosis, Distal, Autosomal Recessive

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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