RTADR
MCID: ATS494
MIFTS: 36

Autosomal Recessive Distal Renal Tubular Acidosis (RTADR)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Distal Renal Tubular Acidosis

MalaCards integrated aliases for Autosomal Recessive Distal Renal Tubular Acidosis:

Name: Autosomal Recessive Distal Renal Tubular Acidosis 20 58
Rta, Distal, Autosomal Recessive 20 6
Autosomal Recessive Distal Rta 20 58
Ar Drta 20 58
Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss, Included 20
Renal Tubular Acidosis, Autosomal Recessive with Preserved Hearing 20
Acidosis, Tubular, Renal, Distal, Autosomal Recessive 39
Rtadr 20

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive distal renal tubular acidosis
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy;

Classifications:

Orphanet: 58  
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 N25.8
UMLS via Orphanet 71 C1864498
Orphanet 58 ORPHA402041

Summaries for Autosomal Recessive Distal Renal Tubular Acidosis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 402041 Definition An 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. Epidemiology The prevalence is unknown. Clinical description Disease 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. Etiology Autosomal 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 counseling This disease is inherited in an autosomal recessive manner and genetic counseling is possible.

MalaCards based summary : Autosomal Recessive Distal Renal Tubular Acidosis, also known as rta, distal, autosomal recessive, is related to renal tubular acidosis, distal, 3, with or without sensorineural hearing loss and metabolic acidosis. An important gene associated with Autosomal Recessive Distal Renal Tubular Acidosis is ATP6V0A4 (ATPase H+ Transporting V0 Subunit A4), and among its related pathways/superpathways are Signaling by GPCR and Metabolism. Affiliated tissues include kidney, and related phenotype is Reduced mammosphere formation.

Related Diseases for Autosomal Recessive Distal Renal Tubular Acidosis

Diseases in the Distal Renal Tubular Acidosis family:

Renal Tubular Acidosis, Distal, 1 Hereditary Distal Renal Tubular Acidosis
Autosomal Dominant Distal Renal Tubular Acidosis Autosomal Recessive Distal Renal Tubular Acidosis
Renal Tubular Acidosis, Distal, Type 3

Diseases related to Autosomal Recessive Distal Renal Tubular Acidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 31.0 SLC4A1 ATP6V1B1 ATP6V0A4
2 metabolic acidosis 30.9 SLC4A1 ATP6V1B1 ATP6V0A4
3 distal renal tubular acidosis 30.8 SLC4A1 ATP6V1C2 ATP6V1B1 ATP6V0D2 ATP6V0A4
4 hereditary elliptocytosis 30.7 SLC4A1 ATP6V1B1 ATP6V0A4
5 nephrocalcinosis 30.7 SLC4A1 ATP6V1B1 ATP6V0A4
6 hereditary distal renal tubular acidosis 30.4 SLC4A1 FOXI1 ATP6V1B1 ATP6V0A4
7 nephrolithiasis 30.3 SLC4A1 ATP6V1B1 ATP6V0A4
8 renal tubular acidosis 29.6 SLC4A2 SLC4A1 FOXI1 ATP6V1G3 ATP6V1C2 ATP6V1B1
9 renal tubular acidosis with deafness 11.7
10 elliptocytosis 2 10.5
11 ovalocytosis, southeast asian 10.5
12 elliptocytosis 3 10.5
13 sensorineural hearing loss 10.5
14 rickets 10.5
15 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss 10.4
16 branchiootic syndrome 1 10.4
17 renal tubular acidosis, distal, 4, with hemolytic anemia 10.4
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
19 hypokalemia 10.4
20 renal tubular acidosis, distal, 1 10.2
21 hemolytic anemia 10.2
22 autosomal dominant distal renal tubular acidosis 10.2
23 medullary sponge kidney 10.2 ATP6V1B1 ATP6V0A4
24 osteopetrosis, autosomal recessive 1 10.2 ATP6V1B1 ATP6V0A4
25 osteopetrosis, autosomal recessive 4 10.1 SLC4A1 ATP6V1B1 ATP6V0A4
26 osteopetrosis, autosomal recessive 7 10.1 SLC4A1 ATP6V1B1 ATP6V0A4
27 osteopetrosis, autosomal recessive 6 10.1 SLC4A1 ATP6V1B1 ATP6V0A4
28 osteopetrosis, autosomal recessive 5 10.1 SLC4A1 ATP6V1B1 ATP6V0A4
29 renal tubular transport disease 10.1 SLC4A1 ATP6V1B1 ATP6V0A4
30 osteopetrosis, autosomal recessive 3 9.9 SLC4A1 ATP6V1B1 ATP6V0D2 ATP6V0A4
31 vestibular disease 9.9 FOXI1 ATP6V1B1
32 auditory system disease 9.9 FOXI1 ATP6V1B1 ATP6V0A4
33 cataract 14, multiple types 9.8 SLC4A2 SLC4A1
34 polydactyly, postaxial, type a1 9.8 MT-ATP6 ATP6V1B1
35 sorsby fundus dystrophy 9.8 ATP6V1G3 ATP6V1G2

Graphical network of the top 20 diseases related to Autosomal Recessive Distal Renal Tubular Acidosis:



Diseases related to Autosomal Recessive Distal Renal Tubular Acidosis

Symptoms & Phenotypes for Autosomal Recessive Distal Renal Tubular Acidosis

GenomeRNAi Phenotypes related to Autosomal Recessive Distal Renal Tubular Acidosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 ATP6V0D1 ATP6V1C1 ATP6V1C2 ATP6V1G1 ATP6V1G2

Drugs & Therapeutics for Autosomal Recessive Distal Renal Tubular Acidosis

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Distal Renal Tubular Acidosis

Genetic Tests for Autosomal Recessive Distal Renal Tubular Acidosis

Anatomical Context for Autosomal Recessive Distal Renal Tubular Acidosis

MalaCards organs/tissues related to Autosomal Recessive Distal Renal Tubular Acidosis:

40
Kidney

Publications for Autosomal Recessive Distal Renal Tubular Acidosis

Articles related to Autosomal Recessive Distal Renal Tubular Acidosis:

(show all 32)
# Title Authors PMID Year
1
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families. 6 61
27247958 2016
2
Importance of early audiologic assessment in distal renal tubular acidosis. 6 61
23754897 2011
3
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. 6 61
16611712 2006
4
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. 6 61
12414817 2002
5
Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase a subunits, ATP6V0A2 and ATP6V0A4. 6
29311258 2018
6
Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis. 6
26208211 2015
7
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. 6
10973252 2000
8
A rare case of autosomal recessive ATP6V0A4 variant of distal renal tubular acidosis in a young female with recurrent nephrolithiasis. 61
31929293 2019
9
A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report. 61
31348261 2019
10
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis. 61
30124986 2019
11
Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families. 61
29573245 2018
12
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis. 61
29202719 2017
13
The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers. 61
26453614 2016
14
Distal renal tubular acidosis with nerve deafness secondary to ATP6B1 gene mutation. 61
25579729 2015
15
Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis. 61
23729491 2013
16
Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear. 61
23065636 2013
17
Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype. 61
22872862 2012
18
Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis. 61
20221774 2010
19
An expanded syndrome of dRTA with hearing loss, hyperoxaluria and beta2-microglobulinuria. 61
25984047 2010
20
Distal renal tubular acidosis and its relationship with hearing loss in children: preliminary report. 61
20622307 2010
21
The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction. 61
18368028 2008
22
Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1). 61
15252044 2004
23
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. 61
15211439 2004
24
Mice lacking the B1 subunit of H+ -ATPase have normal hearing. 61
12782355 2003
25
Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population. 61
12938018 2003
26
ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. 61
12500243 2003
27
Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis. 61
12384298 2002
28
Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene. 61
12087557 2002
29
Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene. 61
11495928 2001
30
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. 61
10577919 1999
31
Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis. 61
10571775 1999
32
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. 61
9600966 1998

Variations for Autosomal Recessive Distal Renal Tubular Acidosis

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

6 (show top 50) (show all 108)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP6V0A4 ATP6V0A4, 1-BP DEL, GLN276 Deletion Pathogenic 5156 GRCh37:
GRCh38:
2 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2458G>A (p.Gly820Arg) SNV Pathogenic 5151 rs267606671 GRCh37: 7:138391434-138391434
GRCh38: 7:138706689-138706689
3 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1691+1G>A SNV Pathogenic 5152 rs587776615 GRCh37: 7:138418880-138418880
GRCh38: 7:138734135-138734135
4 ATP6V0A4 NM_020632.3(ATP6V0A4):c.105del (p.Gln36fs) Deletion Pathogenic 5153 rs587776616 GRCh37: 7:138455888-138455888
GRCh38: 7:138771143-138771143
5 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter) SNV Pathogenic 5158 rs121908369 GRCh37: 7:138424351-138424351
GRCh38: 7:138739606-138739606
6 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) SNV Pathogenic 5159 rs28939081 GRCh37: 7:138394378-138394378
GRCh38: 7:138709633-138709633
7 ATP6V0A4 NM_020632.3(ATP6V0A4):c.418-1G>A SNV Pathogenic 5155 rs587776617 GRCh37: 7:138447180-138447180
GRCh38: 7:138762435-138762435
8 ATP6V0A4 NM_020632.3(ATP6V0A4):c.816+1G>A SNV Pathogenic 635428 rs1450564765 GRCh37: 7:138440433-138440433
GRCh38: 7:138755688-138755688
9 ATP6V0A4 NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs) Deletion Pathogenic 802371 rs1584934951 GRCh37: 7:138447689-138447693
GRCh38: 7:138762944-138762948
10 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2137del (p.Glu713fs) Deletion Pathogenic 977293 GRCh37: 7:138406644-138406644
GRCh38: 7:138721899-138721899
11 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter) SNV Pathogenic 5150 rs121908367 GRCh37: 7:138400509-138400509
GRCh38: 7:138715764-138715764
12 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2140-61_2257+166del Deletion Pathogenic 973549 GRCh37: 7:138400343-138400687
GRCh38: 7:138715598-138715942
13 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1185del (p.Tyr396fs) Deletion Pathogenic 1033539 GRCh37: 7:138432305-138432305
GRCh38: 7:138747560-138747560
14 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2207C>G (p.Ser736Ter) SNV Pathogenic 1033540 GRCh37: 7:138400559-138400559
GRCh38: 7:138715814-138715814
15 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) SNV Likely pathogenic 384333 rs763982675 GRCh37: 7:138432259-138432259
GRCh38: 7:138747514-138747514
16 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu) SNV Likely pathogenic 802368 rs934266733 GRCh37: 7:138391441-138391441
GRCh38: 7:138706696-138706696
17 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter) SNV Likely pathogenic 802369 rs1584907924 GRCh37: 7:138417775-138417775
GRCh38: 7:138733030-138733030
18 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1691+2dup Duplication Likely pathogenic 802370 rs753232747 GRCh37: 7:138418878-138418879
GRCh38: 7:138734133-138734134
19 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter) SNV Likely pathogenic 632498 rs754517968 GRCh37: 7:138394490-138394490
GRCh38: 7:138709745-138709745
20 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) SNV Conflicting interpretations of pathogenicity 623151 rs1443883930 GRCh37: 7:138430000-138430000
GRCh38: 7:138745255-138745255
21 ATP6V0A4 NM_020632.3(ATP6V0A4):c.*180G>T SNV Uncertain significance 910343 GRCh37: 7:138391189-138391189
GRCh38: 7:138706444-138706444
22 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1385C>T (p.Thr462Met) SNV Uncertain significance 359017 rs368301208 GRCh37: 7:138429961-138429961
GRCh38: 7:138745216-138745216
23 ATP6V0A4 NM_020632.3(ATP6V0A4):c.118-3T>A SNV Uncertain significance 359032 rs186717040 GRCh37: 7:138453999-138453999
GRCh38: 7:138769254-138769254
24 ATP6V0A4 NM_020632.3(ATP6V0A4):c.292-3T>A SNV Uncertain significance 911683 GRCh37: 7:138447773-138447773
GRCh38: 7:138763028-138763028
25 ATP6V0A4 NM_020632.3(ATP6V0A4):c.264G>A (p.Pro88=) SNV Uncertain significance 911684 GRCh37: 7:138453552-138453552
GRCh38: 7:138768807-138768807
26 ATP6V0A4 NM_020632.3(ATP6V0A4):c.243C>G (p.Leu81=) SNV Uncertain significance 911685 GRCh37: 7:138453573-138453573
GRCh38: 7:138768828-138768828
27 ATP6V0A4 NM_020632.3(ATP6V0A4):c.17G>A (p.Arg6Gln) SNV Uncertain significance 911686 GRCh37: 7:138455976-138455976
GRCh38: 7:138771231-138771231
28 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2429+15C>G SNV Uncertain significance 911554 GRCh37: 7:138394354-138394354
GRCh38: 7:138709609-138709609
29 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2326G>C (p.Val776Leu) SNV Uncertain significance 911555 GRCh37: 7:138394472-138394472
GRCh38: 7:138709727-138709727
30 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1189A>G (p.Thr397Ala) SNV Uncertain significance 908670 GRCh37: 7:138432301-138432301
GRCh38: 7:138747556-138747556
31 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1466A>G (p.Asn489Ser) SNV Uncertain significance 911619 GRCh37: 7:138429880-138429880
GRCh38: 7:138745135-138745135
32 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1291C>T (p.Arg431Cys) SNV Uncertain significance 911620 GRCh37: 7:138432199-138432199
GRCh38: 7:138747454-138747454
33 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1729del (p.Ile577fs) Deletion Uncertain significance 632499 rs1562989815 GRCh37: 7:138417801-138417801
GRCh38: 7:138733056-138733056
34 ATP6V0A4 NM_020632.3(ATP6V0A4):c.418-13C>G SNV Uncertain significance 359031 rs752531162 GRCh37: 7:138447192-138447192
GRCh38: 7:138762447-138762447
35 ATP6V0A4 NM_020632.3(ATP6V0A4):c.588C>T (p.Asn196=) SNV Uncertain significance 359028 rs144172463 GRCh37: 7:138444548-138444548
GRCh38: 7:138759803-138759803
36 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1904A>C (p.His635Pro) SNV Uncertain significance 548503 rs1554393418 GRCh37: 7:138417626-138417626
GRCh38: 7:138732881-138732881
37 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2403T>C (p.Ala801=) SNV Uncertain significance 359005 rs138627775 GRCh37: 7:138394395-138394395
GRCh38: 7:138709650-138709650
38 ATP6V0A4 NM_020632.3(ATP6V0A4):c.808T>A (p.Leu270Ile) SNV Uncertain significance 359025 rs538080700 GRCh37: 7:138440442-138440442
GRCh38: 7:138755697-138755697
39 ATP6V0A4 , TMEM213 NM_020632.3(ATP6V0A4):c.-206G>A SNV Uncertain significance 359038 rs746508351 GRCh37: 7:138482864-138482864
GRCh38: 7:138798119-138798119
40 ATP6V0A4 NM_020632.3(ATP6V0A4):c.946G>A (p.Val316Ile) SNV Uncertain significance 359022 rs201744457 GRCh37: 7:138437453-138437453
GRCh38: 7:138752708-138752708
41 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2260C>A (p.Leu754Met) SNV Uncertain significance 359008 rs886062012 GRCh37: 7:138394538-138394538
GRCh38: 7:138709793-138709793
42 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2192G>A (p.Cys731Tyr) SNV Uncertain significance 908601 GRCh37: 7:138400574-138400574
GRCh38: 7:138715829-138715829
43 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2113G>A (p.Gly705Arg) SNV Uncertain significance 908602 GRCh37: 7:138406668-138406668
GRCh38: 7:138721923-138721923
44 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2046G>C (p.Glu682Asp) SNV Uncertain significance 908603 GRCh37: 7:138406735-138406735
GRCh38: 7:138721990-138721990
45 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1002T>C (p.Arg334=) SNV Uncertain significance 733794 rs774810624 GRCh37: 7:138437397-138437397
GRCh38: 7:138752652-138752652
46 ATP6V0A4 NM_020632.3(ATP6V0A4):c.-15C>T SNV Uncertain significance 908730 GRCh37: 7:138456007-138456007
GRCh38: 7:138771262-138771262
47 ATP6V0A4 NM_020632.3(ATP6V0A4):c.-120-12C>G SNV Uncertain significance 908731 GRCh37: 7:138471017-138471017
GRCh38: 7:138786272-138786272
48 ATP6V0A4 , TMEM213 NM_020632.3(ATP6V0A4):c.-135G>A SNV Uncertain significance 908732 GRCh37: 7:138482793-138482793
GRCh38: 7:138798048-138798048
49 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1908+12A>T SNV Uncertain significance 909456 GRCh37: 7:138417610-138417610
GRCh38: 7:138732865-138732865
50 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1893C>A (p.Pro631=) SNV Uncertain significance 909457 GRCh37: 7:138417637-138417637
GRCh38: 7:138732892-138732892

Expression for Autosomal Recessive Distal Renal Tubular Acidosis

Search GEO for disease gene expression data for Autosomal Recessive Distal Renal Tubular Acidosis.

Pathways for Autosomal Recessive Distal Renal Tubular Acidosis

Pathways related to Autosomal Recessive Distal Renal Tubular Acidosis according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V1B1
2
Show member pathways
13.87 SLC4A1 MT-ATP6 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2
3
Show member pathways
13.74 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V1B1
4
Show member pathways
13.26 MT-ATP6 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1
5
Show member pathways
13.24 SLC4A2 SLC4A1 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2
6
Show member pathways
12.89 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V1B1
7
Show member pathways
12.47 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V1B1
8
Show member pathways
12.4 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V1B1
9
Show member pathways
12.02 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V1B1
10 11.96 ATP6V0D2 ATP6V0D1 ATP6V0A4
11 11.79 ATP6V0D2 ATP6V0D1 ATP6V0A4
12 11.79 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V1B1
13 11.78 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V1B1
14
Show member pathways
11.77 SLC4A1 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1

GO Terms for Autosomal Recessive Distal Renal Tubular Acidosis

Cellular components related to Autosomal Recessive Distal Renal Tubular Acidosis according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.03 SLC4A1 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V1B1 ATP6V0D2
2 apical plasma membrane GO:0016324 9.72 SLC4A2 ATP6V1B1 ATP6V0D2 ATP6V0D1 ATP6V0A4
3 endosome membrane GO:0010008 9.67 ATP6V0D2 ATP6V0D1 ATP6V0A4
4 basolateral plasma membrane GO:0016323 9.65 SLC4A2 SLC4A1 ATP6V1B1
5 phagocytic vesicle membrane GO:0030670 9.63 ATP6V0D2 ATP6V0D1 ATP6V0A4
6 proton-transporting V-type ATPase, V0 domain GO:0033179 9.43 ATP6V0D2 ATP6V0D1 ATP6V0A4
7 lysosomal membrane GO:0005765 9.43 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V0D2 ATP6V0D1 ATP6V0A4
8 plasma membrane proton-transporting V-type ATPase complex GO:0033181 9.4 ATP6V0D2 ATP6V0D1
9 vacuolar proton-transporting V-type ATPase, V1 domain GO:0000221 9.37 ATP6V1C2 ATP6V1C1
10 proton-transporting V-type ATPase, V1 domain GO:0033180 9.33 ATP6V1C2 ATP6V1C1 ATP6V1B1
11 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.17 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1B1 ATP6V0D2 ATP6V0D1

Biological processes related to Autosomal Recessive Distal Renal Tubular Acidosis according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 10.06 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V1B1
2 proton transmembrane transport GO:1902600 9.97 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V1B1
3 regulation of macroautophagy GO:0016241 9.91 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V1B1 ATP6V0D2
4 phagosome acidification GO:0090383 9.91 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V1B1
5 transferrin transport GO:0033572 9.81 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V1B1
6 vacuolar acidification GO:0007035 9.61 ATP6V0D2 ATP6V0D1 ATP6V0A4
7 insulin receptor signaling pathway GO:0008286 9.61 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V1B1
8 bicarbonate transport GO:0015701 9.57 SLC4A2 SLC4A1
9 excretion GO:0007588 9.56 ATP6V1B1 ATP6V0A4
10 regulation of intracellular pH GO:0051453 9.55 SLC4A2 SLC4A1
11 anion transport GO:0006820 9.54 SLC4A2 SLC4A1
12 inorganic anion transport GO:0015698 9.52 SLC4A2 SLC4A1
13 ion homeostasis GO:0050801 9.51 SLC4A2 SLC4A1
14 regulation of pH GO:0006885 9.49 ATP6V1B1 ATP6V0A4
15 vacuolar transport GO:0007034 9.48 ATP6V0D2 ATP6V0D1
16 cellular response to increased oxygen levels GO:0036295 9.46 ATP6V1G1 ATP6V0D1
17 ion transport GO:0006811 9.4 SLC4A2 SLC4A1 MT-ATP6 ATP6V1G3 ATP6V1G2 ATP6V1G1

Molecular functions related to Autosomal Recessive Distal Renal Tubular Acidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.5 ATP6V1G3 ATP6V1G1 ATP6V1C2 ATP6V1C1 ATP6V0D2 ATP6V0D1
2 ATPase binding GO:0051117 9.43 ATP6V1G3 ATP6V1G1 ATP6V0A4
3 anion:anion antiporter activity GO:0015301 9.4 SLC4A2 SLC4A1
4 anion transmembrane transporter activity GO:0008509 9.37 SLC4A2 SLC4A1
5 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.33 ATP6V1G3 ATP6V1G2 ATP6V1G1
6 inorganic anion exchanger activity GO:0005452 9.32 SLC4A2 SLC4A1
7 proton transmembrane transporter activity GO:0015078 9.17 MT-ATP6 ATP6V1C2 ATP6V1C1 ATP6V1B1 ATP6V0D2 ATP6V0D1

Sources for Autosomal Recessive Distal Renal Tubular Acidosis

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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