RTADR
MCID: RNL047
MIFTS: 40

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 57 74 29 13 55 6 72
Autosomal Recessive Distal Rta 53 59 74
Rtadr 57 53 74
Autosomal Recessive Distal Renal Tubular Acidosis 53 59
Rta, Distal, Autosomal Recessive 57 53
Ar Drta 53 59
Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss, Included 53
Distal Renal Tubular Acidosis with Late-Onset Sensorineural Hearing Loss 74
Renal Tubular Acidosis, Autosomal Recessive, with Preserved Hearing 57
Renal Tubular Acidosis, Autosomal Recessive with Preserved Hearing 53
Acidosis, Tubular, Renal, Distal, Autosomal Recessive 40
Distal Renal Tubular Acidosis with Preserved Hearing 74

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive distal renal tubular acidosis
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy;

HPO:

32
renal tubular acidosis, distal, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 602722
MeSH 44 D000141
ICD10 via Orphanet 34 N25.8
UMLS via Orphanet 73 C1864498
Orphanet 59 ORPHA402041
UMLS 72 C1864498

Summaries for Renal Tubular Acidosis, Distal, Autosomal Recessive

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 402041DefinitionAn 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.EpidemiologyThe prevalence is unknown.Clinical descriptionDisease 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.EtiologyAutosomal 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 counselingThis 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 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 : 74 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
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 23)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis 30.2 SLC4A1 ATP6V1B1 ATP6V0A4
2 metabolic acidosis 29.8 SLC4A1 ATP6V1B1 ATP6V0A4
3 sensorineural hearing loss 29.7 ATP6V1B1 ATP6V0A4
4 nephrocalcinosis 29.6 SLC4A1 ATP6V1B1 ATP6V0A4
5 renal tubular acidosis, distal, autosomal dominant 29.4 SLC4A1 ATP6V1B1 ATP6V0A4
6 renal tubular acidosis, distal, with progressive nerve deafness 12.2
7 renal tubular acidosis, distal, with hemolytic anemia 11.5
8 distal renal tubular acidosis 10.7
9 elliptocytosis 2 10.4
10 ovalocytosis, southeast asian 10.4
11 elliptocytosis 3 10.4
12 rickets 10.4
13 branchiootic syndrome 1 10.3
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
15 hypokalemia 10.3
16 nephrolithiasis, calcium oxalate 10.2
17 hemolytic anemia 10.2
18 medullary sponge kidney 9.8 ATP6V1B1 ATP6V0A4
19 osteopetrosis, autosomal recessive 3 9.8 ATP6V1B1 ATP6V0A4
20 hereditary spherocytosis 9.8 SLC4A1 ATP6V0A4
21 autosomal recessive disease 9.6 ATP6V1B1 ATP6V0A4
22 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.4 FOXI1 ATP6V1B1
23 inner ear disease 9.1 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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 distal renal tubular acidosis 32 obligate (100%) HP:0008341
2 nephrocalcinosis 32 hallmark (90%) HP:0000121
3 failure to thrive 32 HP:0001508
4 dehydration 32 HP:0001944
5 vomiting 32 HP:0002013
6 growth delay 32 HP:0001510
7 bilateral sensorineural hearing impairment 32 HP:0008619

Clinical features from OMIM:

602722

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

46
# 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:

41
Bone, Kidney

Publications for Renal Tubular Acidosis, Distal, Autosomal Recessive

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

(show all 12)
# Title Authors PMID Year
1
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. 8 71
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. 8 71
10973252 2000
3
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. 8
10577919 1999
4
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. 8
9600966 1998
5
SOME OBSERVATIONS OF RENAL TUBULAR ACIDOSIS--A FAMILY STUDY. 8
14194734 1964
6
New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies. 9 38
11045400 2000
7
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. 9
16611712 2006
8
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. 9
15211439 2004
9
Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population. 9
12938018 2003
10
ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. 9
12500243 2003
11
Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene. 9
11495928 2001
12
Inherited renal tubular acidosis. 38
10990375 2000

Variations for Renal Tubular Acidosis, Distal, Autosomal Recessive

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

6 (show all 14)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATP6V0A4 NM_020632.3(ATP6V0A4): c.2257C> T (p.Gln753Ter) single nucleotide variant Pathogenic rs121908367 7:138400509-138400509 7:138715764-138715764
2 ATP6V0A4 NM_020632.3(ATP6V0A4): c.2458G> A (p.Gly820Arg) single nucleotide variant Pathogenic rs267606671 7:138391434-138391434 7:138706689-138706689
3 ATP6V0A4 NM_020632.3(ATP6V0A4): c.1691+1G> A single nucleotide variant Pathogenic rs587776615 7:138418880-138418880 7:138734135-138734135
4 ATP6V0A4 NM_020632.3(ATP6V0A4): c.105del (p.Gln36fs) deletion Pathogenic rs587776616 7:138455888-138455888 7:138771143-138771143
5 ATP6V0A4 NM_020632.3(ATP6V0A4): c.418-1G> A single nucleotide variant Pathogenic rs587776617 7:138447180-138447180 7:138762435-138762435
6 ATP6V0A4 ATP6V0A4, 1-BP DEL, GLN276 deletion Pathogenic
7 ATP6V0A4 NM_020632.3(ATP6V0A4): c.816+1G> A single nucleotide variant Pathogenic 7:138440433-138440433 7:138755688-138755688
8 ATP6V0A4 NM_020632.3(ATP6V0A4): c.2308C> T (p.Arg770Ter) single nucleotide variant Likely pathogenic 7:138394490-138394490 7:138709745-138709745
9 ATP6V0A4 NM_020632.3(ATP6V0A4): c.1231G> T (p.Asp411Tyr) single nucleotide variant Likely pathogenic rs763982675 7:138432259-138432259 7:138747514-138747514
10 ATP6V0A4 NM_020632.3(ATP6V0A4): c.1346G> A (p.Arg449His) single nucleotide variant Conflicting interpretations of pathogenicity 7:138430000-138430000 7:138745255-138745255
11 ATP6V0A4 NM_020632.3(ATP6V0A4): c.1729del (p.Ile577fs) deletion Uncertain significance 7:138417800-138417801 7:138733056-138733056
12 ATP6V0A4 NM_020632.3(ATP6V0A4): c.1904A> C (p.His635Pro) single nucleotide variant Uncertain significance rs1554393418 7:138417626-138417626 7:138732881-138732881
13 ATP6V0A4 NM_020632.3(ATP6V0A4): c.1571C> T (p.Pro524Leu) single nucleotide variant Uncertain significance rs121908368 7:138424286-138424286 7:138739541-138739541
14 ATP6V0A4 NM_020632.3(ATP6V0A4): c.1739T> C (p.Met580Thr) single nucleotide variant Benign/Likely benign rs3807153 7:138417791-138417791 7:138733046-138733046

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

74
# 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 basolateral plasma membrane GO:0016323 8.96 SLC4A1 ATP6V1B1
2 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.58 SLC4A1 ATP6V1B1 ATP6V0A4
2 ion transmembrane transport GO:0034220 9.49 ATP6V1B1 ATP6V0A4
3 sensory perception of sound GO:0007605 9.48 ATP6V1B1 ATP6V0A4
4 proton transmembrane transport GO:1902600 9.46 ATP6V1B1 ATP6V0A4
5 ossification GO:0001503 9.43 ATP6V1B1 ATP6V0A4
6 insulin receptor signaling pathway GO:0008286 9.37 ATP6V1B1 ATP6V0A4
7 inner ear morphogenesis GO:0042472 9.32 FOXI1 ATP6V1B1
8 excretion GO:0007588 9.26 ATP6V1B1 ATP6V0A4
9 transferrin transport GO:0033572 9.16 ATP6V1B1 ATP6V0A4
10 ATP hydrolysis coupled proton transport GO:0015991 8.96 ATP6V1B1 ATP6V0A4
11 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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