MCID: RNL026
MIFTS: 28

Renal Tubular Acidosis with Deafness

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

Aliases & Classifications for Renal Tubular Acidosis with Deafness

MalaCards integrated aliases for Renal Tubular Acidosis with Deafness:

Name: Renal Tubular Acidosis with Deafness 54 50 25 13
Renal Tubular Acidosis with Progressive Nerve Deafness 50 25 71 29
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 50 25 71
Rta with Progressive Nerve Deafness 50 25 71
Renal Tubular Acidosis, Autosomal Recessive, with Progressive Nerve Deafness 50 25
Autosomal Recessive Distal Renal Tubular Acidosis with Deafness 50 25
Renal Tubular Acidosis Type 1b 50 25
Ar Drta with Hearing Loss 50 25
Autosomal Recessive Renal Tubular Acidosis with Progressive Nerve Deafness 71
Autosomal Recessive Distal Renal Tubular Acidosis with Hearing Loss 50
Distal Renal Tubular Acidosis with Progressive Nerve Deafness 24
Renal Tubular Acidosis Progressive Nerve Deafness 50
Distal Renal Tubular Acidosis with Deafness 71
Ar Drta with Deafness 25
Ar Drta Wth Deafness 50
Drta-D 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
renal tubular acidosis with deafness:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 267300
MedGen 40 C0403554
SNOMED-CT via HPO 65 258211005 60700002 1776003

Summaries for Renal Tubular Acidosis with Deafness

NIH Rare Diseases : 50 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. last updated: 8/13/2015

MalaCards based summary : Renal Tubular Acidosis with Deafness, also known as renal tubular acidosis with progressive nerve deafness, is related to renal tubular acidosis, distal, and has symptoms including nephrolithiasis, renal tubular acidosis and sensorineural hearing impairment. An important gene associated with Renal Tubular Acidosis with Deafness is ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1). The drugs Fludrocortisone and Furosemide have been mentioned in the context of this disorder. Affiliated tissues include kidney and bone.

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.

UniProtKB/Swiss-Prot : 71 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.

Description from OMIM: 267300

Related Diseases for Renal Tubular Acidosis with Deafness

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

id Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal 10.9

Symptoms & Phenotypes for Renal Tubular Acidosis with Deafness

Symptoms via clinical synopsis from OMIM:

54

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

Head And Neck- Ears:
hearing loss, sensorineural

Genitourinary- Kidneys:
kidney stones
renal tubular acidosis


Clinical features from OMIM:

267300

Human phenotypes related to Renal Tubular Acidosis with Deafness:

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

Drugs & Therapeutics for Renal Tubular Acidosis with Deafness

Drugs for Renal Tubular Acidosis with Deafness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludrocortisone Approved 127-31-1 31378
2
Furosemide Approved, Vet_approved 54-31-9 3440
3 Anti-Inflammatory Agents
4 diuretics
5 Natriuretic Agents
6 Sodium Potassium Chloride Symporter Inhibitors

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Influence of Polymorphisms in the ATP6V1 Gene of the V-ATPase on the Development of Incomplete Distal Renal Tubular Acidosis Recruiting NCT01690039 Furosemide-Fludrocortisone-Test (test for urinary acidification)

Search NIH Clinical Center for Renal Tubular Acidosis with Deafness

Genetic Tests for Renal Tubular Acidosis with Deafness

Genetic tests related to Renal Tubular Acidosis with Deafness:

id Genetic test Affiliating Genes
1 Renal Tubular Acidosis with Progressive Nerve Deafness 29
2 Distal Renal Tubular Acidosis with Progressive Nerve Deafness 24 ATP6V1B1

Anatomical Context for Renal Tubular Acidosis with Deafness

MalaCards organs/tissues related to Renal Tubular Acidosis with Deafness:

39
Kidney, Bone

Publications for Renal Tubular Acidosis with Deafness

Variations for Renal Tubular Acidosis with Deafness

UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Acidosis with Deafness:

71
id 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 with Deafness:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ATP6V1B1 NM_001692.3(ATP6V1B1): c.785+1G> A single nucleotide variant Pathogenic rs727504746 GRCh38 Chromosome 2, 70961694: 70961694

Expression for Renal Tubular Acidosis with Deafness

Search GEO for disease gene expression data for Renal Tubular Acidosis with Deafness.

Pathways for Renal Tubular Acidosis with Deafness

GO Terms for Renal Tubular Acidosis with Deafness

Sources for Renal Tubular Acidosis with Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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