DRTA
MCID: DST107
MIFTS: 55

Distal Renal Tubular Acidosis (DRTA)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Distal Renal Tubular Acidosis

MalaCards integrated aliases for Distal Renal Tubular Acidosis:

Name: Distal Renal Tubular Acidosis 19 58 28 53 5 71 75
Familial Distal Primary Acidosis 58
Renal Tubular Acidosis, Distal 75
Renal Tubular Acidosis Type 1 58
Classic Rta 58
Drta 58

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare renal diseases


Summaries for Distal Renal Tubular Acidosis

GARD: 19 Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.

MalaCards based summary: Distal Renal Tubular Acidosis, also known as familial distal primary acidosis, is related to renal tubular acidosis, distal, 4, with hemolytic anemia and distal renal tubular acidosis with hemolytic anemia. An important gene associated with Distal Renal Tubular Acidosis is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)), and among its related pathways/superpathways are Innate Immune System and Signal Transduction. The drugs Potassium citrate and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and liver, and related phenotypes are hypokalemia and nephrocalcinosis

Orphanet: 58 A rare genetic or acquired renal tubular disease characterized by hyperchloremic metabolic acidosis. Primary distal renal tubular acidosis (dRTA) is often associated with hypokalemia, other forms with hypokalemia, hyperkalemia or normokalemia.

Wikipedia: 75 Distal renal tubular acidosis (dRTA) is the classical form of RTA, being the first described. Distal RTA... more...

Related Diseases for Distal Renal Tubular Acidosis

Diseases in the Distal Renal Tubular Acidosis family:

Renal Tubular Acidosis, Distal, 1 Hereditary Distal Renal Tubular Acidosis

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

(show top 50) (show all 259)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, 4, with hemolytic anemia 32.7 WDR72 SLC4A1
2 distal renal tubular acidosis with hemolytic anemia 32.6 WDR72 SLC4A1
3 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 32.6 WDR72 SLC4A1 ATP6V1B1 ATP6V0A4
4 metabolic acidosis 31.7 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
5 renal tubular acidosis 31.7 WDR72 TCIRG1 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
6 nephrocalcinosis 31.7 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
7 nephrolithiasis 31.4 SLC4A1 ATP6V1B1 ATP6V0A4
8 medullary sponge kidney 31.0 ATP6V1B1 ATP6V0A4
9 hereditary elliptocytosis 31.0 SLC4A2 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
10 osteopetrosis 30.6 TCIRG1 SLC4A2 CA2
11 corneal dystrophy, band-shaped 30.2 SLC4A2 CA2
12 osteopetrosis, autosomal recessive 1 30.1 TCIRG1 ATP6V1B1 ATP6V0A4
13 osteopetrosis, autosomal recessive 3 29.8 TCIRG1 SLC4A1 CA2 ATP6V1B1 ATP6V0D2 ATP6V0A4
14 slc4a1-associated distal renal tubular acidosis 12.1
15 renal tubular acidosis, distal, 1 12.0
16 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss 11.9
17 renal tubular acidosis iii 11.5
18 hereditary distal renal tubular acidosis 11.5
19 central nervous system calcification-deafness-tubular acidosis-anemia syndrome 11.3
20 primary renal tubular acidosis 11.3
21 hypokalemia 11.1
22 nephrolithiasis, calcium oxalate 11.0
23 primary tubular proximal acidosis 10.9
24 sjogren syndrome 10.9
25 sensorineural hearing loss 10.9
26 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.9
27 elliptocytosis 2 10.8
28 elliptocytosis 1 10.8
29 elliptocytosis 3 10.8
30 rickets 10.7
31 ovalocytosis, southeast asian 10.7
32 hemolytic anemia 10.7
33 bone disease 10.7
34 periodic paralysis 10.7
35 urolithiasis 10.6
36 osteomalacia 10.6
37 hereditary spherocytosis 10.6
38 autoimmune disease 10.6
39 systemic lupus erythematosus 10.6
40 deficiency anemia 10.6
41 thyroiditis 10.6
42 lupus erythematosus 10.6
43 hashimoto thyroiditis 10.6
44 systemic lupus erythematosus 1 10.6
45 urinary tract infection 10.6
46 hyperparathyroidism 10.6
47 hypothyroidism 10.6
48 hypokalemic periodic paralysis, type 1 10.5
49 central diabetes insipidus 10.5
50 interstitial nephritis 10.5

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



Diseases related to Distal Renal Tubular Acidosis

Symptoms & Phenotypes for Distal Renal Tubular Acidosis

Human phenotypes related to Distal Renal Tubular Acidosis:

58 30 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypokalemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002900
2 nephrocalcinosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000121
3 chronic metabolic acidosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001996
4 hyperchloremic metabolic acidosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004918
5 hypocitraturia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012405
6 decreased serum bicarbonate concentration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0032066
7 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
8 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
9 nephrolithiasis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000787
10 hypercalciuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0002150
11 hypermagnesiuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0012608
12 hyperphosphaturia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003109
13 renal potassium wasting 58 30 Frequent (33%) Frequent (79-30%)
HP:0000128
14 constipation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002019
15 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
16 dehydration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001944
17 polydipsia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001959
18 vomiting 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002013
19 aminoaciduria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003355
20 rickets 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002748
21 respiratory insufficiency due to muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002747
22 osteomalacia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002749
23 bone pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002653
24 proximal tubulopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000114
25 poor appetite 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004396
26 diarrhea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002014
27 enlarged vestibular aqueduct 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011387
28 renal cyst 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000107
29 increased susceptibility to fractures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002659
30 decreased glomerular filtration rate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012213
31 intermittent painful muscle spasms 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011964
32 low-molecular-weight proteinuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003126
33 hemolytic anemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001878
34 paralysis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003470
35 muscle weakness 58 Frequent (79-30%)
36 reduced bone mineral density 58 Very frequent (99-80%)
37 growth delay 58 Frequent (79-30%)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.13 AMBP ATP6V0A4 ATP6V0D1 ATP6V0D2 ATP6V1B1 ATP6V1C1
2 no effect GR00402-S-2 10.13 AMBP ATP6V0A4 ATP6V0D1 ATP6V0D2 ATP6V1B1 ATP6V1C2

MGI Mouse Phenotypes related to Distal Renal Tubular Acidosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.23 ATP6V0A4 ATP6V0D1 ATP6V0D2 ATP6V1B1 CA2 SLC4A2

Drugs & Therapeutics for Distal Renal Tubular Acidosis

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Potassium citrate Approved, Investigational, Vet_approved Phase 3 866-84-2
2
Sodium citrate Approved, Investigational Phase 3 68-04-2 23431961
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
4 Expectorants Phase 3
5 Respiratory System Agents Phase 3
6 Citrate Phase 3
7 diuretics Phase 3
8
Fludrocortisone Approved, Investigational 127-31-1 31378
9
Furosemide Approved, Vet_approved 54-31-9 3440
10 Sodium Potassium Chloride Symporter Inhibitors
11 Anti-Inflammatory Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3B Open-Label Extension Of Study B23CS (ARENA 2) Evaluating The Continued Safety And Efficacy Of ADV7103 In Subjects With Primary Distal Renal Tubular Acidosis Unknown status NCT03831152 Phase 3 ADV7103
2 A Phase 3 Multicenter, Randomized, Double-Blinded, Placebo-Controlled Withdrawal Study Evaluating ADV7103 In Pediatric and Adult Subjects With Distal Renal Tubular Acidosis (dRTA) Not yet recruiting NCT03644706 Phase 3 ADV7103;Placebo
3 Mircera In Patients With CKD Stages III-IV Not On Dialysis: Observational, Non-interventional Cohort Study Completed NCT02490514
4 Comparison of Furosemide/Fludrocortisone With Ammonium Chloride Loading Test in the Diagnosis of Incomplete dRTA in Kidney Stone Formers Completed NCT01690039 Furosemide-Fludrocortisone-Test (test for urinary acidification)

Search NIH Clinical Center for Distal Renal Tubular Acidosis

Genetic Tests for Distal Renal Tubular Acidosis

Genetic tests related to Distal Renal Tubular Acidosis:

# Genetic test Affiliating Genes
1 Distal Renal Tubular Acidosis 28

Anatomical Context for Distal Renal Tubular Acidosis

Organs/tissues related to Distal Renal Tubular Acidosis:

MalaCards : Kidney, Bone, Liver, T Cells, Thyroid, Lung, Brain

Publications for Distal Renal Tubular Acidosis

Articles related to Distal Renal Tubular Acidosis:

(show top 50) (show all 1075)
# Title Authors PMID Year
1
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. 62 5
31959358 2020
2
Impaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis. 53 62
20151848 2010
3
Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis. 53 62
20028337 2010
4
Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene. 53 62
20068363 2010
5
Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis. 53 62
19625994 2009
6
Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies. 53 62
18266205 2008
7
Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A. 53 62
18174378 2008
8
The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction. 53 62
18368028 2008
9
Dominant-negative effect of Southeast Asian ovalocytosis anion exchanger 1 in compound heterozygous distal renal tubular acidosis. 53 62
17941824 2008
10
Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand. 53 62
17533027 2007
11
Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children. 53 62
17216496 2007
12
Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl-/HCO3- exchanger (slc4a1). 53 62
17409310 2007
13
Differential localization of vacuolar H+-ATPases containing a1, a2, a3, or a4 (ATP6V0A1-4) subunit isoforms along the nephron. 53 62
17595521 2007
14
Trafficking defect of mutant kidney anion exchanger 1 (kAE1) proteins associated with distal renal tubular acidosis and Southeast Asian ovalocytosis. 53 62
17027918 2006
15
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. 53 62
16611712 2006
16
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. 53 62
16433694 2006
17
Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations. 53 62
16252102 2006
18
Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations. 53 62
19565014 2005
19
Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA). 53 62
15649129 2005
20
Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1). 53 62
15252044 2004
21
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. 53 62
15211439 2004
22
A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells. 53 62
14734552 2004
23
Characterization of a highly polymorphic marker adjacent to the SLC4A1 gene and of kidney immunostaining in a family with distal renal tubular acidosis. 53 62
14736961 2004
24
Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis. 53 62
14638902 2003
25
A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis. 53 62
14654610 2003
26
Human anion exchanger1 mutations and distal renal tubular acidosis. 53 62
15115146 2003
27
A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis. 53 62
12750988 2003
28
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. 53 62
12566520 2003
29
Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. 53 62
12579397 2003
30
Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population. 53 62
12938018 2003
31
High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis. 53 62
14618420 2003
32
ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. 53 62
12500243 2003
33
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. 53 62
12384298 2002
34
Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1. 53 62
11934690 2002
35
The AE gene family of Cl/HCO3- exchangers. 53 62
12027221 2002
36
Molecular basis of red cell membrane disorders. 53 62
12432217 2002
37
Factors predictive of renal involvement in patients with primary Sjögren's syndrome. 53 62
11499654 2001
38
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. 53 62
10973252 2000
39
Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis. 53 62
10571775 1999
40
Distal renal tubular acidosis and high urine carbon dioxide tension in a patient with southeast Asian ovalocytosis. 53 62
10352205 1999
41
Environmental distal renal tubular acidosis in Thailand: an enigma. 53 62
10352213 1999
42
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. 53 62
9916796 1999
43
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. 53 62
9854053 1998
44
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. 53 62
9312167 1997
45
Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene. 53 62
9306337 1997
46
An immunocytochemical study of H+ ATPase in kidney transplant rejection. 53 62
9273365 1996
47
Diseases of renal adenosine triphosphatase. 53 62
7825650 1995
48
Severe hypophosphatemia as the initial presentation of renal Fanconi's syndrome and distal renal tubular acidosis related to zoledronic acid: A case report and literature review. 62
36412607 2022
49
Distal renal tubular acidosis and lethargy associated with zonisamide treatment in a dog with idiopathic epilepsy. 62
35916390 2022
50
[Epidemiological, clinical and evolutionary particularities of primary distal tubular acidosis in Tunisian children]. 62
36216732 2022

Variations for Distal Renal Tubular Acidosis

ClinVar genetic disease variations for Distal Renal Tubular Acidosis:

5 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP6V0A4 NM_020632.3(ATP6V0A4):c.2446A>G (p.Lys816Glu) SNV Pathogenic
1344704 GRCh37: 7:138391446-138391446
GRCh38: 7:138706701-138706701
2 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1312_1315del (p.Asp438fs) MICROSAT Pathogenic
1344705 GRCh37: 7:138432175-138432178
GRCh38: 7:138747430-138747433
3 ATP6V1B1 NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) SNV Pathogenic
12228 rs121964880 GRCh37: 2:71185243-71185243
GRCh38: 2:70958113-70958113
4 ATP6V1B1 NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) SNV Pathogenic
280139 rs781838938 GRCh37: 2:71190419-71190419
GRCh38: 2:70963289-70963289
5 ATP6V0A4 NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) SNV Pathogenic
623151 rs1443883930 GRCh37: 7:138430000-138430000
GRCh38: 7:138745255-138745255
6 SLC4A1 NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His) SNV Pathogenic
17763 rs121912744 GRCh37: 17:42333075-42333075
GRCh38: 17:44255707-44255707
7 SLC4A1 NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) DEL Pathogenic
17753 rs769664228 GRCh37: 17:42335411-42335437
GRCh38: 17:44258043-44258069
8 SLC4A1 NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) SNV Pathogenic
17771 rs121912751 GRCh37: 17:42328609-42328609
GRCh38: 17:44251241-44251241
9 ATP6V1B1 NM_001692.4(ATP6V1B1):c.497del (p.Thr166fs) DEL Pathogenic
562411 rs782152033 GRCh37: 2:71187120-71187120
GRCh38: 2:70959990-70959990
10 WDR72 NM_182758.4(WDR72):c.764_768del (p.Gly255fs) DEL Likely Pathogenic
1343811 GRCh37: 15:54003622-54003626
GRCh38: 15:53711425-53711429
11 ATP6V1C2 NM_001039362.2(ATP6V1C2):c.503T>C (p.Ile168Thr) SNV Likely Pathogenic
1344706 GRCh37: 2:10911997-10911997
GRCh38: 2:10771871-10771871
12 WDR72 NM_182758.4(WDR72):c.477_485dup (p.Ile159_Cys161dup) DUP Likely Pathogenic
1344707 GRCh37: 15:54007418-54007419
GRCh38: 15:53715221-53715222
13 SLC4A2 NM_003040.4(SLC4A2):c.2107G>A (p.Ala703Thr) SNV Likely Pathogenic
1344708 GRCh37: 7:150768608-150768608
GRCh38: 7:151071521-151071521

Expression for Distal Renal Tubular Acidosis

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

Pathways for Distal Renal Tubular Acidosis

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 TCIRG1 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1
2 13.55 ATP6V0A4 ATP6V0D1 ATP6V0D2 ATP6V1B1 ATP6V1C1 ATP6V1C2
3
Show member pathways
13.49 TCIRG1 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1
4
Show member pathways
13.27 ATP6V0A4 ATP6V0D1 ATP6V0D2 ATP6V1B1 ATP6V1C1 ATP6V1C2
5
Show member pathways
13.26 TCIRG1 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1
6 12.79 TCIRG1 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1
7
Show member pathways
12.58 TCIRG1 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1
8
Show member pathways
12.12 TCIRG1 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1
9
Show member pathways
11.56 TCIRG1 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1
10 11.46 ATP6V0A4 ATP6V0D2 ATP6V1B1 ATP6V1C1 ATP6V1G1 CA2
11
Show member pathways
11.05 SLC4A1 CA2

GO Terms for Distal Renal Tubular Acidosis

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.55 AMBP ATP6V0A4 ATP6V0D1 ATP6V0D2 ATP6V1B1 ATP6V1C1
2 apical plasma membrane GO:0016324 10.25 TCIRG1 SLC4A2 ATP6V1G1 ATP6V1B1 ATP6V0D2 ATP6V0D1
3 lysosomal membrane GO:0005765 10.21 ATP6V0A4 ATP6V0D1 ATP6V0D2 ATP6V1C1 ATP6V1C2 ATP6V1G1
4 endosome membrane GO:0010008 10.19 TCIRG1 ATP6V0D2 ATP6V0D1 ATP6V0A4
5 basolateral plasma membrane GO:0016323 10.18 SLC4A2 SLC4A1 ATP6V1B1 ATP6V0A4
6 phagocytic vesicle membrane GO:0030670 10.1 TCIRG1 ATP6V0D2 ATP6V0D1 ATP6V0A4
7 apical part of cell GO:0045177 10.04 CA2 ATP6V1C1 ATP6V0A4
8 clathrin-coated vesicle membrane GO:0030665 10 ATP6V1G2 ATP6V1C1 ATP6V0D1
9 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 9.93 ATP6V0A4 ATP6V0D1 TCIRG1
10 proton-transporting V-type ATPase complex GO:0033176 9.86 TCIRG1 ATP6V0A4
11 plasma membrane proton-transporting V-type ATPase complex GO:0033181 9.81 ATP6V0D2 ATP6V0D1
12 synaptic vesicle membrane GO:0030672 9.76 ATP6V1C1 ATP6V0D1 ATP6V0A4
13 extrinsic component of synaptic vesicle membrane GO:0098850 9.73 ATP6V1G2 ATP6V1C1 ATP6V1B1
14 proton-transporting two-sector ATPase complex GO:0016469 9.71 ATP6V1C1 ATP6V1B1
15 ATPase complex GO:1904949 9.65 ATP6V1G1 ATP6V1C1 ATP6V0D1
16 vacuolar proton-transporting V-type ATPase, V1 domain GO:0000221 9.65 ATP6V1B1 ATP6V1C1 ATP6V1C2 ATP6V1G1 ATP6V1G2
17 proton-transporting V-type ATPase, V0 domain GO:0033179 9.55 TCIRG1 ATP6V0D2 ATP6V0D1 ATP6V0A4
18 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.53 TCIRG1 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1B1 ATP6V0D2
19 transmembrane transporter complex GO:1902495 9.5 ATP6V0D1 ATP6V1C1 ATP6V1G1
20 proton-transporting V-type ATPase, V1 domain GO:0033180 9.43 ATP6V1C2 ATP6V1C1 ATP6V1B1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of macroautophagy GO:0016241 10.1 ATP6V0D1 ATP6V0D2 ATP6V1B1 ATP6V1C1 ATP6V1C2 ATP6V1G1
2 ossification GO:0001503 10.02 TCIRG1 ATP6V1B1 ATP6V0A4
3 vacuolar acidification GO:0007035 10.02 TCIRG1 ATP6V1B1 ATP6V0D2 ATP6V0D1 ATP6V0A4
4 regulation of intracellular pH GO:0051453 9.85 SLC4A2 SLC4A1 CA2
5 monoatomic ion homeostasis GO:0050801 9.84 SLC4A2 SLC4A1
6 regulation of pH GO:0006885 9.83 ATP6V1B1 ATP6V0A4
7 enamel mineralization GO:0070166 9.81 WDR72 TCIRG1
8 vacuolar transport GO:0007034 9.78 ATP6V0D2 ATP6V0D1
9 monoatomic ion transport GO:0006811 9.77 ATP6V0A4 ATP6V0D1 ATP6V0D2 ATP6V1B1 ATP6V1C1 ATP6V1C2
10 cellular response to increased oxygen levels GO:0036295 9.76 ATP6V1G1 ATP6V0D1
11 pH reduction GO:0045851 9.73 ATP6V1B1 TCIRG1
12 renal tubular secretion GO:0097254 9.71 ATP6V1B1 ATP6V0A4
13 intracellular pH reduction GO:0051452 9.67 TCIRG1 ATP6V0A4
14 synaptic vesicle lumen acidification GO:0097401 9.63 ATP6V1G2 ATP6V1G1 ATP6V1C1 ATP6V1B1 ATP6V0D1 ATP6V0A4
15 proton transmembrane transport GO:1902600 9.62 ATP6V0A4 ATP6V0D1 ATP6V0D2 ATP6V1B1 ATP6V1C1 ATP6V1C2

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

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 9.76 TCIRG1 ATP6V1G3 ATP6V1G1 ATP6V0A4
2 solute:inorganic anion antiporter activity GO:0005452 9.62 SLC4A2 SLC4A1
3 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.62 TCIRG1 ATP6V1G3 ATP6V1G2 ATP6V1G1 ATP6V1C2 ATP6V1C1
4 monoatomic anion transmembrane transporter activity GO:0008509 9.56 SLC4A2 SLC4A1
5 proton transmembrane transporter activity GO:0015078 9.35 ATP6V1B1 ATP6V1C1 ATP6V1C2 MT-ATP6

Sources for Distal Renal Tubular Acidosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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