RTADR
MCID: RNL047
MIFTS: 41

Renal Tubular Acidosis, Distal, Autosomal Recessive (RTADR)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare 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 56 73 29 13 54 6 71
Autosomal Recessive Distal Rta 52 58 73
Rtadr 56 52 73
Autosomal Recessive Distal Renal Tubular Acidosis 52 58
Rta, Distal, Autosomal Recessive 56 52
Ar Drta 52 58
Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss, Included 52
Distal Renal Tubular Acidosis with Late-Onset Sensorineural Hearing Loss 73
Renal Tubular Acidosis, Autosomal Recessive, with Preserved Hearing 56
Renal Tubular Acidosis, Autosomal Recessive with Preserved Hearing 52
Acidosis, Tubular, Renal, Distal, Autosomal Recessive 39
Distal Renal Tubular Acidosis with Preserved Hearing 73

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive distal renal tubular acidosis
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy;

HPO:

31
renal tubular acidosis, distal, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 602722
MeSH 43 D000141
ICD10 via Orphanet 33 N25.8
UMLS via Orphanet 72 C1864498
Orphanet 58 ORPHA402041
UMLS 71 C1864498

Summaries for Renal Tubular Acidosis, Distal, Autosomal Recessive

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 402041 Definition An inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed. Epidemiology The prevalence is unknown. Clinical description Disease onset usually occurs in infancy or early childhood with polyuria, polydipsia, weakness and fatigue. Failure to thrive, rickets and stunting of growth (resulting from a loss of calcium salts from the bones) are common manifestations of the disease and can lead to progressive bone disease in adults. Some patients can be asymptomatic. Deafness may occur very early or later in life. Deafness is typically bilateral, progressive and unresponsive to alkali therapy. Etiology Autosomal recessive dRTA is due to mutations in the ATP6V1B1 (2p13) or ATP6V0A4 (7q34) genes . These genes encode kidney-specific V-ATPase 116 kDa isoform a4 and V-ATPase subunit B 1 of H+-ATPase, respectively. ATP6V1B1 mutations are usually associated with early onset deafness whereas ATP6V0A4 mutations have been reported with both early and late onset deafness but deafness can occur with either gene mutation. Genetic counseling This disease is inherited in an autosomal recessive manner and genetic counseling is possible. Visit the Orphanet disease page for more resources.

MalaCards based summary : Renal Tubular Acidosis, Distal, Autosomal Recessive, also known as autosomal recessive distal rta, is related to distal renal tubular acidosis and metabolic 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 Phagosome. Affiliated tissues include bone and kidney, and related phenotypes are distal renal tubular acidosis and nephrocalcinosis

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 602722

Related Diseases for Renal Tubular Acidosis, Distal, Autosomal Recessive

Diseases in the Distal Renal Tubular Acidosis family:

Renal Tubular Acidosis, Distal, Autosomal Dominant Renal Tubular Acidosis, Distal, Autosomal Recessive
Hereditary Distal Renal Tubular Acidosis Renal Tubular Acidosis, Distal, Type 3

Diseases related to Renal Tubular Acidosis, Distal, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 distal renal tubular acidosis 30.3 SLC4A1 ATP6V1B1 ATP6V0A4
2 metabolic acidosis 30.0 SLC4A1 ATP6V1B1 ATP6V0A4
3 nephrocalcinosis 29.8 SLC4A1 ATP6V1B1 ATP6V0A4
4 nephrolithiasis, calcium oxalate 29.4 SLC4A1 ATP6V1B1 ATP6V0A4
5 renal tubular acidosis 29.4 SLC4A1 FOXI1 ATP6V1B1 ATP6V0A4
6 hereditary distal renal tubular acidosis 28.9 SLC4A1 FOXI1 ATP6V1B1 ATP6V0A4
7 renal tubular acidosis, distal, with progressive nerve deafness 12.2
8 renal tubular acidosis, distal, with hemolytic anemia 11.5
9 elliptocytosis 2 10.4
10 ovalocytosis, southeast asian 10.4
11 elliptocytosis 3 10.4
12 sensorineural hearing loss 10.4
13 rickets 10.4
14 branchiootic syndrome 1 10.3
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
16 hypokalemia 10.3
17 renal tubular acidosis, distal, autosomal dominant 10.2
18 hemolytic anemia 10.2
19 medullary sponge kidney 9.8 ATP6V1B1 ATP6V0A4
20 osteopetrosis, autosomal recessive 7 9.8 ATP6V1B1 ATP6V0A4
21 osteopetrosis, autosomal recessive 4 9.8 ATP6V1B1 ATP6V0A4
22 hereditary elliptocytosis 9.8 SLC4A1 ATP6V0A4
23 osteopetrosis, autosomal recessive 1 9.8 ATP6V1B1 ATP6V0A4
24 osteopetrosis, autosomal recessive 6 9.8 ATP6V1B1 ATP6V0A4
25 pendred syndrome 9.5 SLC4A1 FOXI1
26 vestibular disease 9.5 FOXI1 ATP6V1B1
27 osteopetrosis, autosomal recessive 3 9.5 SLC4A1 ATP6V1B1 ATP6V0A4
28 renal tubular transport disease 9.5 SLC4A1 ATP6V1B1 ATP6V0A4
29 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.4 FOXI1 ATP6V1B1
30 autosomal recessive disease 9.4 ATP6V1B1 ATP6V0A4
31 inner ear disease 9.3 FOXI1 ATP6V1B1
32 auditory system disease 9.2 FOXI1 ATP6V1B1 ATP6V0A4

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

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 distal renal tubular acidosis 31 obligate (100%) HP:0008341
2 nephrocalcinosis 31 hallmark (90%) HP:0000121
3 failure to thrive 31 HP:0001508
4 dehydration 31 HP:0001944
5 vomiting 31 HP:0002013
6 growth delay 31 HP:0001510
7 bilateral sensorineural hearing impairment 31 HP:0008619

Clinical features from OMIM:

602722

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.47 SLC4A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.47 SLC4A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.47 FOXI1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.47 FOXI1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.47 SLC4A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.47 FOXI1 SLC4A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.47 FOXI1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.47 FOXI1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.47 FOXI1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.47 FOXI1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.47 FOXI1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.47 FOXI1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.47 SLC4A1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.33 ATP6V0A4 ATP6V1B1 FOXI1
2 renal/urinary system MP:0005367 9.26 ATP6V0A4 ATP6V1B1 FOXI1 SLC4A1
3 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:

40
Bone, Kidney

Publications for Renal Tubular Acidosis, Distal, Autosomal Recessive

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

(show all 13)
# Title Authors PMID Year
1
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. 56 6
12414817 2002
2
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. 56 6
10973252 2000
3
Hereditary Distal Renal Tubular Acidosis 6
31600044 2019
4
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. 56
10577919 1999
5
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. 56
9600966 1998
6
SOME OBSERVATIONS OF RENAL TUBULAR ACIDOSIS--A FAMILY STUDY. 56
14194734 1964
7
New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies. 54 61
11045400 2000
8
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. 54
16611712 2006
9
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. 54
15211439 2004
10
Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population. 54
12938018 2003
11
ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. 54
12500243 2003
12
Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene. 54
11495928 2001
13
Inherited renal tubular acidosis. 61
10990375 2000

Variations for Renal Tubular Acidosis, Distal, Autosomal Recessive

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

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter)SNV Pathogenic 5150 rs121908367 7:138400509-138400509 7:138715764-138715764
2 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2458G>A (p.Gly820Arg)SNV Pathogenic 5151 rs267606671 7:138391434-138391434 7:138706689-138706689
3 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1691+1G>ASNV Pathogenic 5152 rs587776615 7:138418880-138418880 7:138734135-138734135
4 ATP6V0A4 NM_020632.3(ATP6V0A4):c.105del (p.Gln36fs)deletion Pathogenic 5153 rs587776616 7:138455888-138455888 7:138771143-138771143
5 ATP6V0A4 NM_020632.3(ATP6V0A4):c.418-1G>ASNV Pathogenic 5155 rs587776617 7:138447180-138447180 7:138762435-138762435
6 ATP6V0A4 ATP6V0A4, 1-BP DEL, GLN276deletion Pathogenic 5156
7 ATP6V0A4 NM_020632.3(ATP6V0A4):c.816+1G>ASNV Pathogenic 635428 7:138440433-138440433 7:138755688-138755688
8 ATP6V0A4 NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs)deletion Pathogenic 802371 7:138447689-138447693 7:138762944-138762948
9 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter)SNV Likely pathogenic 632498 rs754517968 7:138394490-138394490 7:138709745-138709745
10 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu)SNV Likely pathogenic 802368 7:138391441-138391441 7:138706696-138706696
11 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter)SNV Likely pathogenic 802369 7:138417775-138417775 7:138733030-138733030
12 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1691+2dupduplication Likely pathogenic 802370 7:138418878-138418879 7:138734133-138734134
13 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr)SNV Likely pathogenic 384333 rs763982675 7:138432259-138432259 7:138747514-138747514
14 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His)SNV Conflicting interpretations of pathogenicity 623151 rs1443883930 7:138430000-138430000 7:138745255-138745255
15 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1729del (p.Ile577fs)deletion Uncertain significance 632499 rs1562989815 7:138417801-138417801 7:138733056-138733056
16 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1904A>C (p.His635Pro)SNV Uncertain significance 548503 rs1554393418 7:138417626-138417626 7:138732881-138732881
17 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1571C>T (p.Pro524Leu)SNV Uncertain significance 5157 rs121908368 7:138424286-138424286 7:138739541-138739541
18 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr)SNV Benign/Likely benign 5154 rs3807153 7:138417791-138417791 7:138733046-138733046

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

73
# 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 rs144388393
6 ATP6V0A4 p.Arg807Gln VAR_020996 rs28939081

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 SLC4A1 ATP6V1B1 ATP6V0A4
2 11.44 ATP6V1B1 ATP6V0A4
3
Show member pathways
11.27 ATP6V1B1 ATP6V0A4
4
Show member pathways
11.25 SLC4A1 ATP6V1B1 ATP6V0A4
5 10.92 ATP6V1B1 ATP6V0A4

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 cell GO:0005623 9.33 SLC4A1 ATP6V1B1 ATP6V0A4
2 basolateral plasma membrane GO:0016323 8.96 SLC4A1 ATP6V1B1
3 vacuolar proton-transporting V-type ATPase complex GO:0016471 8.62 ATP6V1B1 ATP6V0A4

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.54 SLC4A1 ATP6V1B1 ATP6V0A4
2 sensory perception of sound GO:0007605 9.48 ATP6V1B1 ATP6V0A4
3 proton transmembrane transport GO:1902600 9.46 ATP6V1B1 ATP6V0A4
4 ossification GO:0001503 9.43 ATP6V1B1 ATP6V0A4
5 insulin receptor signaling pathway GO:0008286 9.4 ATP6V1B1 ATP6V0A4
6 inner ear morphogenesis GO:0042472 9.32 FOXI1 ATP6V1B1
7 transferrin transport GO:0033572 9.26 ATP6V1B1 ATP6V0A4
8 excretion GO:0007588 9.16 ATP6V1B1 ATP6V0A4
9 phagosome acidification GO:0090383 8.96 ATP6V1B1 ATP6V0A4
10 regulation of pH GO:0006885 8.62 ATP6V1B1 ATP6V0A4

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 ATP6V1B1 ATP6V0A4

Sources for Renal Tubular Acidosis, Distal, Autosomal Recessive

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
Content
Loading form....