MCID: RNL118
MIFTS: 22

Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

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

Aliases & Classifications for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

MalaCards integrated aliases for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness:

Name: Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 57 53 25 75
Renal Tubular Acidosis with Progressive Nerve Deafness 57 53 25 75 29 6
Renal Tubular Acidosis with Deafness 57 53 25 13
Rta with Progressive Nerve Deafness 57 53 25 75
Renal Tubular Acidosis, Autosomal Recessive, with Progressive Nerve Deafness 57 53 25
Autosomal Recessive Distal Renal Tubular Acidosis with Deafness 53 25
Renal Tubular Acidosis Type 1b 53 25
Ar Drta with Hearing Loss 53 25
Autosomal Recessive Renal Tubular Acidosis with Progressive Nerve Deafness 75
Autosomal Recessive Distal Renal Tubular Acidosis with Hearing Loss 53
Acidosis, Tubular, Renal, with Progressive Nerve Deafness 40
Renal Tubular Acidosis Progressive Nerve Deafness 53
Distal Renal Tubular Acidosis with Deafness 75
Ar Drta with Deafness 25
Ar Drta Wth Deafness 53
Drta-D 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
renal tubular acidosis, distal, with progressive nerve deafness:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 267300
MedGen 42 C0403554
SNOMED-CT via HPO 69 258211005 60700002 1776003

Summaries for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

Genetics Home Reference : 25 Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with this disorder, the kidneys do not remove enough acidic compounds from the body. Instead, the acids are absorbed back into the bloodstream, and the blood becomes too acidic. This chemical imbalance, called metabolic acidosis, can result in a range of signs and symptoms that vary in severity. Metabolic acidosis often causes nausea, vomiting, and dehydration; affected infants tend to have problems feeding and gaining weight (failure to thrive). Most children and adults with renal tubular acidosis with deafness have short stature, and many develop kidney stones.

MalaCards based summary : Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness, also known as renal tubular acidosis with progressive nerve deafness, is related to renal tubular acidosis, distal. An important gene associated with Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness is ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1). Affiliated tissues include kidney and bone, and related phenotypes are sensorineural hearing impairment and nephrolithiasis

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 Renal tubular acidosis with deafness is characterized by kidney (renal) problems and sensorineural hearing loss. Infants with this condition may have problems with feeding and gaining weight (failure to thrive). Most children and adults with the condition have short stature, and many develop kidney stones. Other less common features include a softening and weakening of the bones and hypokalemic paralysis (extreme muscle weakness associated with low levels of potassium in the blood). Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. It is inherited in anĀ autosomal recessiveĀ pattern. Treatment with sodium bicarbonate or sodium citrate can reduce or prevent many of the symptoms of this condition.

Description from OMIM: 267300

Related Diseases for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

Diseases related to Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal 11.0

Symptoms & Phenotypes for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural

Laboratory Abnormalities:
inactive mutant form of red cell carbonic anhydrase b in one sibship

Genitourinary Kidneys:
renal tubular acidosis
kidney stones


Clinical features from OMIM:

267300

Human phenotypes related to Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 nephrolithiasis 32 HP:0000787
3 renal tubular acidosis 32 HP:0001947

Drugs & Therapeutics for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

Search Clinical Trials , NIH Clinical Center for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

Genetic Tests for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

Genetic tests related to Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness:

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

Anatomical Context for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

MalaCards organs/tissues related to Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness:

41
Kidney, Bone

Publications for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

Variations for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness:

75
# 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
5 ATP6V1B1 p.Gly316Glu VAR_007870
6 ATP6V1B1 p.Pro346Arg VAR_007871 rs781838938
7 ATP6V1B1 p.Gly364Ser VAR_007872
8 ATP6V1B1 p.Gly123Val VAR_021012
9 ATP6V1B1 p.Arg157Cys VAR_021013 rs782500780

ClinVar genetic disease variations for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness:

6
(show all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP6V1B1 NM_001692.3(ATP6V1B1): c.815C> T (p.Ala272Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145735762 GRCh37 Chromosome 2, 71189936: 71189936
2 ATP6V1B1 NM_001692.3(ATP6V1B1): c.815C> T (p.Ala272Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145735762 GRCh38 Chromosome 2, 70962806: 70962806
3 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1320T> G (p.Ser440=) single nucleotide variant Benign/Likely benign rs147250093 GRCh37 Chromosome 2, 71191937: 71191937
4 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1320T> G (p.Ser440=) single nucleotide variant Benign/Likely benign rs147250093 GRCh38 Chromosome 2, 70964807: 70964807
5 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1394G> A (p.Arg465His) single nucleotide variant Conflicting interpretations of pathogenicity rs142905621 GRCh37 Chromosome 2, 71192103: 71192103
6 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1394G> A (p.Arg465His) single nucleotide variant Conflicting interpretations of pathogenicity rs142905621 GRCh38 Chromosome 2, 70964973: 70964973
7 ATP6V1B1 NM_001692.3(ATP6V1B1): c.785+1G> A single nucleotide variant Pathogenic rs727504746 GRCh38 Chromosome 2, 70961694: 70961694
8 ATP6V1B1 NM_001692.3(ATP6V1B1): c.785+1G> A single nucleotide variant Pathogenic rs727504746 GRCh37 Chromosome 2, 71188824: 71188824
9 ATP6V1B1 NM_001692.3(ATP6V1B1): c.189G> A (p.Ala63=) single nucleotide variant Conflicting interpretations of pathogenicity rs376581983 GRCh37 Chromosome 2, 71185190: 71185190
10 ATP6V1B1 NM_001692.3(ATP6V1B1): c.189G> A (p.Ala63=) single nucleotide variant Conflicting interpretations of pathogenicity rs376581983 GRCh38 Chromosome 2, 70958060: 70958060
11 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1382C> T (p.Pro461Leu) single nucleotide variant Uncertain significance rs371863168 GRCh37 Chromosome 2, 71192091: 71192091
12 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1382C> T (p.Pro461Leu) single nucleotide variant Uncertain significance rs371863168 GRCh38 Chromosome 2, 70964961: 70964961
13 ATP6V1B1 NM_001692.3(ATP6V1B1): c.-17C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202030952 GRCh38 Chromosome 2, 70935938: 70935938
14 ATP6V1B1 NM_001692.3(ATP6V1B1): c.-17C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202030952 GRCh37 Chromosome 2, 71163068: 71163068
15 ATP6V1B1 NM_001692.3(ATP6V1B1): c.926A> G (p.Glu309Gly) single nucleotide variant Uncertain significance rs201556073 GRCh37 Chromosome 2, 71190308: 71190308
16 ATP6V1B1 NM_001692.3(ATP6V1B1): c.926A> G (p.Glu309Gly) single nucleotide variant Uncertain significance rs201556073 GRCh38 Chromosome 2, 70963178: 70963178
17 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1249-15_1249-11delTTGCC deletion Uncertain significance rs886056273 GRCh37 Chromosome 2, 71191851: 71191855
18 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1249-15_1249-11delTTGCC deletion Uncertain significance rs886056273 GRCh38 Chromosome 2, 70964721: 70964725
19 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1308G> A (p.Glu436=) single nucleotide variant Uncertain significance rs886056274 GRCh37 Chromosome 2, 71191925: 71191925
20 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1308G> A (p.Glu436=) single nucleotide variant Uncertain significance rs886056274 GRCh38 Chromosome 2, 70964795: 70964795
21 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1469C> T (p.Pro490Leu) single nucleotide variant Uncertain significance rs544337438 GRCh37 Chromosome 2, 71192178: 71192178
22 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1469C> T (p.Pro490Leu) single nucleotide variant Uncertain significance rs544337438 GRCh38 Chromosome 2, 70965048: 70965048
23 ATP6V1B1 NM_001692.3(ATP6V1B1): c.*68C> T single nucleotide variant Uncertain significance rs144725809 GRCh37 Chromosome 2, 71192319: 71192319
24 ATP6V1B1 NM_001692.3(ATP6V1B1): c.*68C> T single nucleotide variant Uncertain significance rs144725809 GRCh38 Chromosome 2, 70965189: 70965189
25 ATP6V1B1 NM_001692.3(ATP6V1B1): c.*211delG deletion Uncertain significance rs886056276 GRCh38 Chromosome 2, 70965332: 70965332
26 ATP6V1B1 NM_001692.3(ATP6V1B1): c.*211delG deletion Uncertain significance rs886056276 GRCh37 Chromosome 2, 71192462: 71192462
27 ATP6V1B1 NM_001692.3(ATP6V1B1): c.33G> C (p.Gly11=) single nucleotide variant Uncertain significance rs199559744 GRCh37 Chromosome 2, 71163117: 71163117
28 ATP6V1B1 NM_001692.3(ATP6V1B1): c.33G> C (p.Gly11=) single nucleotide variant Uncertain significance rs199559744 GRCh38 Chromosome 2, 70935987: 70935987
29 ATP6V1B1 NM_001692.3(ATP6V1B1): c.993G> T (p.Arg331=) single nucleotide variant Uncertain significance rs886056272 GRCh37 Chromosome 2, 71190375: 71190375
30 ATP6V1B1 NM_001692.3(ATP6V1B1): c.993G> T (p.Arg331=) single nucleotide variant Uncertain significance rs886056272 GRCh38 Chromosome 2, 70963245: 70963245
31 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1143+10T> C single nucleotide variant Uncertain significance rs782112331 GRCh37 Chromosome 2, 71190794: 71190794
32 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1143+10T> C single nucleotide variant Uncertain significance rs782112331 GRCh38 Chromosome 2, 70963664: 70963664
33 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1276G> A (p.Val426Met) single nucleotide variant Uncertain significance rs531239712 GRCh37 Chromosome 2, 71191893: 71191893
34 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1276G> A (p.Val426Met) single nucleotide variant Uncertain significance rs531239712 GRCh38 Chromosome 2, 70964763: 70964763
35 ATP6V1B1 NM_001692.3(ATP6V1B1): c.-34C> T single nucleotide variant Benign rs79652147 GRCh37 Chromosome 2, 71163051: 71163051
36 ATP6V1B1 NM_001692.3(ATP6V1B1): c.-34C> T single nucleotide variant Benign rs79652147 GRCh38 Chromosome 2, 70935921: 70935921
37 ATP6V1B1 NM_001692.3(ATP6V1B1): c.119-10C> T single nucleotide variant Uncertain significance rs782666539 GRCh37 Chromosome 2, 71170778: 71170778
38 ATP6V1B1 NM_001692.3(ATP6V1B1): c.119-10C> T single nucleotide variant Uncertain significance rs782666539 GRCh38 Chromosome 2, 70943648: 70943648
39 ATP6V1B1 NM_001692.3(ATP6V1B1): c.875C> T (p.Thr292Met) single nucleotide variant Uncertain significance rs141815629 GRCh37 Chromosome 2, 71189996: 71189996
40 ATP6V1B1 NM_001692.3(ATP6V1B1): c.875C> T (p.Thr292Met) single nucleotide variant Uncertain significance rs141815629 GRCh38 Chromosome 2, 70962866: 70962866
41 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1023C> T (p.Ser341=) single nucleotide variant Benign/Likely benign rs117826071 GRCh37 Chromosome 2, 71190405: 71190405
42 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1023C> T (p.Ser341=) single nucleotide variant Benign/Likely benign rs117826071 GRCh38 Chromosome 2, 70963275: 70963275
43 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1332C> T (p.Leu444=) single nucleotide variant Uncertain significance rs372223196 GRCh37 Chromosome 2, 71191949: 71191949
44 ATP6V1B1 NM_001692.3(ATP6V1B1): c.1332C> T (p.Leu444=) single nucleotide variant Uncertain significance rs372223196 GRCh38 Chromosome 2, 70964819: 70964819
45 ATP6V1B1 NM_001692.3(ATP6V1B1): c.*53G> A single nucleotide variant Uncertain significance rs886056275 GRCh37 Chromosome 2, 71192304: 71192304
46 ATP6V1B1 NM_001692.3(ATP6V1B1): c.*53G> A single nucleotide variant Uncertain significance rs886056275 GRCh38 Chromosome 2, 70965174: 70965174
47 ATP6V1B1 NM_001692.3(ATP6V1B1): c.*80C> T single nucleotide variant Uncertain significance rs117574187 GRCh38 Chromosome 2, 70965201: 70965201
48 ATP6V1B1 NM_001692.3(ATP6V1B1): c.*80C> T single nucleotide variant Uncertain significance rs117574187 GRCh37 Chromosome 2, 71192331: 71192331
49 ATP6V1B1 NM_001692.3(ATP6V1B1): c.-89A> G single nucleotide variant Benign rs11685700 GRCh38 Chromosome 2, 70935866: 70935866
50 ATP6V1B1 NM_001692.3(ATP6V1B1): c.-89A> G single nucleotide variant Benign rs11685700 GRCh37 Chromosome 2, 71162996: 71162996

Expression for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

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Pathways for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

GO Terms for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

Sources for Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

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