DRTA2
MCID: RNL126
MIFTS: 25

Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss (DRTA2)

Categories: Ear diseases, Genetic diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

MalaCards integrated aliases for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss:

Name: Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss 57
Renal Tubular Acidosis with Progressive Nerve Deafness 57 73 29 6
Rta with Progressive Nerve Deafness 57 73
Renal Tubular Acidosis, Autosomal Recessive, with Progressive Nerve Deafness 57
Distal Renal Tubular Acidosis 2 with Progressive Sensorineural Hearing Loss 57
Autosomal Recessive Renal Tubular Acidosis with Progressive Nerve Deafness 73
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 73
Acidosis, Tubular, Renal, with Progressive Nerve Deafness 39
Distal Renal Tubular Acidosis with Deafness 73
Drta-D 73
Drta2 57

Characteristics:

OMIM®:

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

Miscellaneous:
age at presentation infancy to 6 years


HPO:

31
renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 267300
OMIM Phenotypic Series 57 PS179800
MedGen 41 C0403554
SNOMED-CT via HPO 68 1776003 258211005 60700002

Summaries for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

UniProtKB/Swiss-Prot : 73 Renal tubular acidosis, distal, with progressive nerve deafness: An autosomal recessive disease characterized by the association of renal distal tubular acidosis with sensorineural hearing loss. Distal renal tubular acidosis is 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, 2, with Progressive Sensorineural Hearing Loss, also known as renal tubular acidosis with progressive nerve deafness, is related to renal tubular acidosis with deafness. An important gene associated with Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss is ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1). Related phenotypes are sensorineural hearing impairment and nephrolithiasis

More information from OMIM: 267300 PS179800

Related Diseases for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

Diseases related to Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis with deafness 11.8

Symptoms & Phenotypes for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

Human phenotypes related to Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 nephrolithiasis 31 HP:0000787
3 renal tubular acidosis 31 HP:0001947

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive
growth retardation

Abdomen Gastrointestinal:
vomiting
feeding problems

Skeletal:
rickets

Head And Neck Ears:
sensorineural hearing loss, severe-profound

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

Laboratory Abnormalities:
hypokalemia
hypercalciuria
urine ph >6.5

Genitourinary Kidneys:
nephrocalcinosis

Clinical features from OMIM®:

267300 (Updated 05-Mar-2021)

Drugs & Therapeutics for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

Search Clinical Trials , NIH Clinical Center for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss

Genetic Tests for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

Genetic tests related to Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss:

# Genetic test Affiliating Genes
1 Renal Tubular Acidosis with Progressive Nerve Deafness 29 ATP6V1B1

Anatomical Context for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

Publications for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

Articles related to Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss:

(show all 16)
# Title Authors PMID Year
1
Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population. 57 6
18798332 2008
2
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. 57 6
12566520 2003
3
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. 6 57
9916796 1999
4
Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. 6
22509993 2013
5
Inherited renal acidoses. 57
17557941 2007
6
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. 57
16611712 2006
7
Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene. 57
16433694 2006
8
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. 57
12414817 2002
9
Siblings with renal tubular acidosis and nerve deafness. The first family in Japan. 57
6425198 1984
10
Renal tubular acidosis and sensorineural deafness: an autosomal recessive syndrome. 57
6768350 1980
11
Renal tubular acidosis and nerve deafness. 57
7387165 1980
12
Inherited variants of human red cell carbonic anhydrases. 57
6777336 1980
13
The acidification defect in the syndrome of renal tubular acidosis with nerve deafness. 57
419999 1979
14
The syndrome of renal tubular acidosis with nerve deafness. 57
1251715 1976
15
Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis. 57
4202671 1974
16
Familial infantile renal tubular acidosis and congenital nerve deafness: an autosomal recessive syndrome. 57
4765211 1973

Variations for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

ClinVar genetic disease variations for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss:

6 (show top 50) (show all 88)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP6V1B1 NM_001692.4(ATP6V1B1):c.91C>T (p.Arg31Ter) SNV Pathogenic 12225 rs121964879 2:71163175-71163175 2:70936045-70936045
2 ATP6V1B1 NM_001692.4(ATP6V1B1):c.585+1G>A SNV Pathogenic 12227 rs782723581 2:71187209-71187209 2:70960079-70960079
3 ATP6V1B1 NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) SNV Pathogenic 12228 rs121964880 2:71185243-71185243 2:70958113-70958113
4 ATP6V1B1 NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg) SNV Pathogenic 12229 rs121964881 2:71185233-71185233 2:70958103-70958103
5 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1248+1G>C SNV Pathogenic 555327 rs1553420702 2:71191673-71191673 2:70964543-70964543
6 ATP6V1B1 ATP6V1B1, IVS12DS, G-C, +1 SNV Pathogenic 12230
7 ATP6V1B1 ATP6V1B1, 1-BP DEL Deletion Pathogenic 12226
8 ATP6V1B1 NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter) SNV Pathogenic 521461 rs782138777 2:71185529-71185529 2:70958399-70958399
9 ATP6V1B1 NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs) Deletion Pathogenic 975088 2:71185184-71185184 2:70958054-70958054
10 ATP6V1B1 NM_001692.4(ATP6V1B1):c.785+1G>A SNV Pathogenic 179259 rs727504746 2:71188824-71188824 2:70961694-70961694
11 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) Duplication Pathogenic 520772 rs781969081 2:71191572-71191573 2:70964442-70964443
12 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) SNV Pathogenic 280139 rs781838938 2:71190419-71190419 2:70963289-70963289
13 ATP6V1B1 NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) SNV Pathogenic/Likely pathogenic 554499 rs145536062 2:71190325-71190325 2:70963195-70963195
14 ATP6V1B1 NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) SNV Likely pathogenic 554501 rs1553419751 2:71187107-71187107 2:70959977-70959977
15 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter) SNV Likely pathogenic 801719 rs1572924733 2:71192095-71192095 2:70964965-70964965
16 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) SNV Conflicting interpretations of pathogenicity 178290 rs142905621 2:71192103-71192103 2:70964973-70964973
17 ATP6V1B1 NM_001692.4(ATP6V1B1):c.368-6C>T SNV Uncertain significance 227181 rs200038589 2:71186142-71186142 2:70959012-70959012
18 ATP6V1B1 NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln) SNV Uncertain significance 228450 rs145196117 2:71188116-71188116 2:70960986-70960986
19 ATP6V1B1 NM_001692.4(ATP6V1B1):c.189G>A (p.Ala63=) SNV Uncertain significance 227180 rs376581983 2:71185190-71185190 2:70958060-70958060
20 ATP6V1B1 NM_001692.4(ATP6V1B1):c.181C>T (p.Gln61Ter) SNV Uncertain significance 632363 rs373621560 2:71185182-71185182 2:70958052-70958052
21 ATP6V1B1 NM_001692.4(ATP6V1B1):c.481_483GAG[1] (p.Glu162del) Microsatellite Uncertain significance 635435 rs1572920649 2:71187104-71187106 2:70959974-70959976
22 ATP6V1B1 NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln) SNV Uncertain significance 638431 rs200269431 2:71185530-71185530 2:70958400-70958400
23 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=) SNV Uncertain significance 336927 rs372223196 2:71191949-71191949 2:70964819-70964819
24 ATP6V1B1 NM_001692.4(ATP6V1B1):c.91C>A (p.Arg31=) SNV Uncertain significance 895244 2:71163175-71163175 2:70936045-70936045
25 ATP6V1B1 NM_001692.4(ATP6V1B1):c.112C>T (p.Arg38Cys) SNV Uncertain significance 895245 2:71163196-71163196 2:70936066-70936066
26 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1478T>C (p.Val493Ala) SNV Uncertain significance 895309 2:71192187-71192187 2:70965057-70965057
27 ATP6V1B1 NM_001692.4(ATP6V1B1):c.567C>T (p.Ala189=) SNV Uncertain significance 896673 2:71187190-71187190 2:70960060-70960060
28 ATP6V1B1 NM_001692.4(ATP6V1B1):c.612G>A (p.Ala204=) SNV Uncertain significance 734386 rs782233102 2:71188077-71188077 2:70960947-70960947
29 ATP6V1B1 NM_001692.4(ATP6V1B1):c.664G>A (p.Ala222Thr) SNV Uncertain significance 228451 rs781981910 2:71188129-71188129 2:70960999-70960999
30 ATP6V1B1 NM_001692.4(ATP6V1B1):c.687+9A>G SNV Uncertain significance 896674 2:71188161-71188161 2:70961031-70961031
31 ATP6V1B1 NM_001692.4(ATP6V1B1):c.688-7T>C SNV Uncertain significance 162763 rs193240706 2:71188719-71188719 2:70961589-70961589
32 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1116C>T (p.Tyr372=) SNV Uncertain significance 897131 2:71190757-71190757 2:70963627-70963627
33 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1180C>A (p.Arg394=) SNV Uncertain significance 898294 2:71191604-71191604 2:70964474-70964474
34 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1199T>C (p.Ile400Thr) SNV Uncertain significance 898295 2:71191623-71191623 2:70964493-70964493
35 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1249-11C>T SNV Uncertain significance 898296 2:71191855-71191855 2:70964725-70964725
36 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1325A>G (p.Asp442Gly) SNV Uncertain significance 898297 2:71191942-71191942 2:70964812-70964812
37 ATP6V1B1 NM_001692.4(ATP6V1B1):c.-19C>T SNV Uncertain significance 684162 rs115563001 2:71163066-71163066 2:70935936-70935936
38 ATP6V1B1 NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr) SNV Uncertain significance 227184 rs527738649 2:71163161-71163161 2:70936031-70936031
39 ATP6V1B1 NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=) SNV Uncertain significance 794520 rs1332086842 2:71186173-71186173 2:70959043-70959043
40 ATP6V1B1 NM_001692.4(ATP6V1B1):c.582T>C (p.Asn194=) SNV Uncertain significance 777948 rs376089214 2:71187205-71187205 2:70960075-70960075
41 ATP6V1B1 NM_001692.4(ATP6V1B1):c.750C>T (p.Asn250=) SNV Uncertain significance 732456 rs185606441 2:71188788-71188788 2:70961658-70961658
42 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1378+10G>A SNV Uncertain significance 738687 rs782676816 2:71192005-71192005 2:70964875-70964875
43 ATP6V1B1 NM_001692.4(ATP6V1B1):c.204C>T (p.Phe68=) SNV Uncertain significance 991640 2:71185205-71185205 2:70958075-70958075
44 ATP6V1B1 NM_001692.4(ATP6V1B1):c.298G>A (p.Asp100Asn) SNV Uncertain significance 991641 2:71185487-71185487 2:70958357-70958357
45 ATP6V1B1 NM_001692.4(ATP6V1B1):c.535C>T (p.Arg179Cys) SNV Uncertain significance 991642 2:71187158-71187158 2:70960028-70960028
46 ATP6V1B1 NM_001692.4(ATP6V1B1):c.931G>A (p.Val311Met) SNV Uncertain significance 991643 2:71190313-71190313 2:70963183-70963183
47 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1373A>G (p.Asn458Ser) SNV Uncertain significance 991644 2:71191990-71191990 2:70964860-70964860
48 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1436G>A (p.Arg479His) SNV Uncertain significance 991645 2:71192145-71192145 2:70965015-70965015
49 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1466T>C (p.Ile489Thr) SNV Uncertain significance 991646 2:71192175-71192175 2:70965045-70965045
50 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1503G>A (p.Glu501=) SNV Uncertain significance 991647 2:71192212-71192212 2:70965082-70965082

UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss:

73
# Symbol AA change Variation ID SNP ID
1 ATP6V1B1 p.Leu81Pro VAR_007866 rs121964880
2 ATP6V1B1 p.Arg124Trp VAR_007867 rs727505222
3 ATP6V1B1 p.Met174Arg VAR_007868
4 ATP6V1B1 p.Thr275Pro VAR_007869 rs116160451
5 ATP6V1B1 p.Gly316Glu VAR_007870 rs155342041
6 ATP6V1B1 p.Pro346Arg VAR_007871 rs781838938
7 ATP6V1B1 p.Gly364Ser VAR_007872
8 ATP6V1B1 p.Gly123Val VAR_021012 rs134387162
9 ATP6V1B1 p.Arg157Cys VAR_021013 rs782500780

Expression for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

Search GEO for disease gene expression data for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss.

Pathways for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

GO Terms for Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural...

Sources for Renal Tubular Acidosis, Distal, 2, with Progressive 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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