DRTA3
MCID: RNL127
MIFTS: 39

Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss (DRTA3)

Categories: Ear diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural...

MalaCards integrated aliases for Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss:

Name: Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss 57
Renal Tubular Acidosis, Distal, Autosomal Recessive 73 29 13 54 6
Rtadr 57 73
Distal Renal Tubular Acidosis 3, with or Without Sensorineural Hearing Loss 57
Distal Renal Tubular Acidosis with Late-Onset Sensorineural Hearing Loss 73
Distal Renal Tubular Acidosis with Preserved Hearing 73
Autosomal Recessive Distal Rta 73
Drta3 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
age at renal tubular acidosis diagnosis - birth to 4 years (majority <1 year)
age at hearing loss diagnosis - infancy to early adulthood


HPO:

31
renal tubular acidosis, distal, 3, with or without sensorineural hearing loss:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset childhood onset neonatal onset


Classifications:



Summaries for Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural...

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.

MalaCards based summary : Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss, also known as renal tubular acidosis, distal, autosomal recessive, is related to autosomal recessive distal renal tubular acidosis and distal renal tubular acidosis. An important gene associated with Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss 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 distal renal tubular acidosis and hypokalemia

More information from OMIM: 602722 PS179800

Related Diseases for Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural...

Graphical network of the top 20 diseases related to Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss:



Diseases related to Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss

Symptoms & Phenotypes for Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural...

Human phenotypes related to Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 distal renal tubular acidosis 31 obligate (100%) HP:0008341
2 hypokalemia 31 very rare (1%) HP:0002900
3 rickets 31 very rare (1%) HP:0002748
4 nephrocalcinosis 31 very rare (1%) HP:0000121
5 hypercalciuria 31 very rare (1%) HP:0002150
6 bilateral sensorineural hearing impairment 31 very rare (1%) HP:0008619
7 failure to thrive 31 HP:0001508
8 dehydration 31 HP:0001944
9 vomiting 31 HP:0002013
10 growth delay 31 HP:0001510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Laboratory Abnormalities:
hypokalemia
hypercalciuria
urine ph >6.5

Genitourinary Kidneys:
nephrocalcinosis

Metabolic Features:
primary distal renal tubular acidosis
hyperchloremic hypokalemic metabolic acidosis

Skeletal:
rickets

Head And Neck Ears:
normal hearing
sensorineural hearing loss, mild-severe

Clinical features from OMIM®:

602722 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.1 SLC4A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.1 ATP6V0A4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.1 SLC4A1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.1 ATP6V0A4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-75 9.1 SLC4A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.1 SLC4A1

MGI Mouse Phenotypes related to Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss:

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, 3, with or Without Sensorineural...

Search Clinical Trials , NIH Clinical Center for Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss

Genetic Tests for Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural...

Genetic tests related to Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss:

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

Anatomical Context for Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural...

MalaCards organs/tissues related to Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss:

40
Kidney

Publications for Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural...

Articles related to Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss:

(show all 11)
# Title Authors PMID Year
1
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. 6 54 57
16611712 2006
2
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. 6 57 61
10973252 2000
3
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. 57 6
12414817 2002
4
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. 57
10577919 1999
5
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. 57
9600966 1998
6
SOME OBSERVATIONS OF RENAL TUBULAR ACIDOSIS--A FAMILY STUDY. 57
14194734 1964
7
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. 54
15211439 2004
8
Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population. 54
12938018 2003
9
ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. 54
12500243 2003
10
Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene. 54
11495928 2001
11
New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies. 54
11045400 2000

Variations for Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural...

ClinVar genetic disease variations for Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss:

6 (show top 50) (show all 106)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP6V0A4 ATP6V0A4, 1-BP DEL, GLN276 Deletion Pathogenic 5156
2 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter) SNV Pathogenic 5150 rs121908367 7:138400509-138400509 7:138715764-138715764
3 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2458G>A (p.Gly820Arg) SNV Pathogenic 5151 rs267606671 7:138391434-138391434 7:138706689-138706689
4 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1691+1G>A SNV Pathogenic 5152 rs587776615 7:138418880-138418880 7:138734135-138734135
5 ATP6V0A4 NM_020632.3(ATP6V0A4):c.105del (p.Gln36fs) Deletion Pathogenic 5153 rs587776616 7:138455888-138455888 7:138771143-138771143
6 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter) SNV Pathogenic 5158 rs121908369 7:138424351-138424351 7:138739606-138739606
7 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) SNV Pathogenic 5159 rs28939081 7:138394378-138394378 7:138709633-138709633
8 ATP6V0A4 NM_020632.3(ATP6V0A4):c.418-1G>A SNV Pathogenic 5155 rs587776617 7:138447180-138447180 7:138762435-138762435
9 ATP6V0A4 NM_020632.3(ATP6V0A4):c.816+1G>A SNV Pathogenic 635428 rs1450564765 7:138440433-138440433 7:138755688-138755688
10 ATP6V0A4 NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs) Deletion Pathogenic 802371 rs1584934951 7:138447689-138447693 7:138762944-138762948
11 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2140-61_2257+166del Deletion Pathogenic 973549 7:138400343-138400687 7:138715598-138715942
12 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2137del (p.Glu713fs) Deletion Pathogenic 977293 7:138406644-138406644 7:138721899-138721899
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.2308C>T (p.Arg770Ter) SNV Likely pathogenic 632498 rs754517968 7:138394490-138394490 7:138709745-138709745
15 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu) SNV Likely pathogenic 802368 rs934266733 7:138391441-138391441 7:138706696-138706696
16 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter) SNV Likely pathogenic 802369 rs1584907924 7:138417775-138417775 7:138733030-138733030
17 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1691+2dup Duplication Likely pathogenic 802370 rs753232747 7:138418878-138418879 7:138734133-138734134
18 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) SNV Conflicting interpretations of pathogenicity 623151 rs1443883930 7:138430000-138430000 7:138745255-138745255
19 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1466A>G (p.Asn489Ser) SNV Uncertain significance 911619 7:138429880-138429880 7:138745135-138745135
20 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1291C>T (p.Arg431Cys) SNV Uncertain significance 911620 7:138432199-138432199 7:138747454-138747454
21 ATP6V0A4 NM_020632.3(ATP6V0A4):c.292-3T>A SNV Uncertain significance 911683 7:138447773-138447773 7:138763028-138763028
22 ATP6V0A4 NM_020632.3(ATP6V0A4):c.264G>A (p.Pro88=) SNV Uncertain significance 911684 7:138453552-138453552 7:138768807-138768807
23 ATP6V0A4 NM_020632.3(ATP6V0A4):c.243C>G (p.Leu81=) SNV Uncertain significance 911685 7:138453573-138453573 7:138768828-138768828
24 ATP6V0A4 NM_020632.3(ATP6V0A4):c.17G>A (p.Arg6Gln) SNV Uncertain significance 911686 7:138455976-138455976 7:138771231-138771231
25 ATP6V0A4 NM_020632.3(ATP6V0A4):c.-281A>G SNV Uncertain significance 909589 7:138482939-138482939 7:138798194-138798194
26 ATP6V0A4 NM_020632.3(ATP6V0A4):c.*180G>T SNV Uncertain significance 910343 7:138391189-138391189 7:138706444-138706444
27 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1733C>T (p.Pro578Leu) SNV Uncertain significance 910400 7:138417797-138417797 7:138733052-138733052
28 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1703G>C (p.Arg568Thr) SNV Uncertain significance 910401 7:138417827-138417827 7:138733082-138733082
29 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1669A>T (p.Ile557Phe) SNV Uncertain significance 910402 7:138418903-138418903 7:138734158-138734158
30 ATP6V0A4 NM_020632.3(ATP6V0A4):c.790A>G (p.Asn264Asp) SNV Uncertain significance 910458 7:138440460-138440460 7:138755715-138755715
31 ATP6V0A4 NM_020632.3(ATP6V0A4):c.492A>G (p.Ala164=) SNV Uncertain significance 745654 rs201044613 7:138447105-138447105 7:138762360-138762360
32 ATP6V0A4 NM_020632.3(ATP6V0A4):c.970G>A (p.Glu324Lys) SNV Uncertain significance 909529 7:138437429-138437429 7:138752684-138752684
33 ATP6V0A4 NM_020632.3(ATP6V0A4):c.954G>A (p.Gln318=) SNV Uncertain significance 909530 7:138437445-138437445 7:138752700-138752700
34 ATP6V0A4 NM_020632.3(ATP6V0A4):c.842G>A (p.Arg281His) SNV Uncertain significance 909531 7:138437557-138437557 7:138752812-138752812
35 ATP6V0A4 NM_020632.3(ATP6V0A4):c.834G>C (p.Glu278Asp) SNV Uncertain significance 909532 7:138437565-138437565 7:138752820-138752820
36 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2429+15C>G SNV Uncertain significance 911554 7:138394354-138394354 7:138709609-138709609
37 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2326G>C (p.Val776Leu) SNV Uncertain significance 911555 7:138394472-138394472 7:138709727-138709727
38 ATP6V0A4 NM_020632.3(ATP6V0A4):c.812T>A (p.Ile271Asn) SNV Uncertain significance 359024 rs147475779 7:138440438-138440438 7:138755693-138755693
39 ATP6V0A4 NM_020632.3(ATP6V0A4):c.418-13C>G SNV Uncertain significance 359031 rs752531162 7:138447192-138447192 7:138762447-138762447
40 ATP6V0A4 NM_020632.3(ATP6V0A4):c.588C>T (p.Asn196=) SNV Uncertain significance 359028 rs144172463 7:138444548-138444548 7:138759803-138759803
41 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1904A>C (p.His635Pro) SNV Uncertain significance 548503 rs1554393418 7:138417626-138417626 7:138732881-138732881
42 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2412C>T (p.His804=) SNV Uncertain significance 359004 rs372230422 7:138394386-138394386 7:138709641-138709641
43 ATP6V0A4 NM_020632.3(ATP6V0A4):c.-248G>A SNV Uncertain significance 359040 rs373396667 7:138482906-138482906 7:138798161-138798161
44 ATP6V0A4 NM_020632.3(ATP6V0A4):c.419C>T (p.Thr140Met) SNV Uncertain significance 359030 rs144802156 7:138447178-138447178 7:138762433-138762433
45 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2403T>C (p.Ala801=) SNV Uncertain significance 359005 rs138627775 7:138394395-138394395 7:138709650-138709650
46 ATP6V0A4 NM_020632.3(ATP6V0A4):c.808T>A (p.Leu270Ile) SNV Uncertain significance 359025 rs538080700 7:138440442-138440442 7:138755697-138755697
47 ATP6V0A4 NM_020632.3(ATP6V0A4):c.-206G>A SNV Uncertain significance 359038 rs746508351 7:138482864-138482864 7:138798119-138798119
48 ATP6V0A4 NM_020632.3(ATP6V0A4):c.946G>A (p.Val316Ile) SNV Uncertain significance 359022 rs201744457 7:138437453-138437453 7:138752708-138752708
49 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2260C>A (p.Leu754Met) SNV Uncertain significance 359008 rs886062012 7:138394538-138394538 7:138709793-138709793
50 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1729del (p.Ile577fs) Deletion Uncertain significance 632499 rs1562989815 7:138417801-138417801 7:138733056-138733056

UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss:

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, 3, with or Without Sensorineural...

Search GEO for disease gene expression data for Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss.

Pathways for Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural...

Pathways related to Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 SLC4A1 ATP6V1B1 ATP6V0A4
2
Show member pathways
11.86 ATP6V1B1 ATP6V0A4
3 11.44 ATP6V1B1 ATP6V0A4
4
Show member pathways
11.27 ATP6V1B1 ATP6V0A4
5
Show member pathways
11.25 SLC4A1 ATP6V1B1 ATP6V0A4
6 10.92 ATP6V1B1 ATP6V0A4

GO Terms for Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural...

Cellular components related to Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.43 SLC4A1 ATP6V1B1 ATP6V0A4
2 apical plasma membrane GO:0016324 9.16 ATP6V1B1 ATP6V0A4
3 basolateral plasma membrane GO:0016323 8.96 SLC4A1 ATP6V1B1
4 vacuolar proton-transporting V-type ATPase complex GO:0016471 8.62 ATP6V1B1 ATP6V0A4

Biological processes related to Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.5 SLC4A1 ATP6V1B1 ATP6V0A4
2 ion transmembrane transport GO:0034220 9.48 ATP6V1B1 ATP6V0A4
3 sensory perception of sound GO:0007605 9.46 ATP6V1B1 ATP6V0A4
4 proton transmembrane transport GO:1902600 9.43 ATP6V1B1 ATP6V0A4
5 ossification GO:0001503 9.4 ATP6V1B1 ATP6V0A4
6 insulin receptor signaling pathway GO:0008286 9.37 ATP6V1B1 ATP6V0A4
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, 3, with or Without Sensorineural Hearing Loss 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, 3, with or Without Sensorineural...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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