MCID: HRD219
MIFTS: 26

Hereditary Distal Renal Tubular Acidosis

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

Aliases & Classifications for Hereditary Distal Renal Tubular Acidosis

MalaCards integrated aliases for Hereditary Distal Renal Tubular Acidosis:

Name: Hereditary Distal Renal Tubular Acidosis 24
Classic Renal Tubular Acidosis 24
Type 1 Rta 24

Classifications:



Summaries for Hereditary Distal Renal Tubular Acidosis

MalaCards based summary : Hereditary Distal Renal Tubular Acidosis, also known as classic renal tubular acidosis, is related to renal tubular acidosis, distal, with hemolytic anemia and metabolic acidosis. An important gene associated with Hereditary Distal Renal Tubular Acidosis is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)), and among its related pathways/superpathways are Phagosome and Synaptic vesicle cycle. Affiliated tissues include bone, kidney and testes, and related phenotypes are renal/urinary system and hearing/vestibular/ear

GeneReviews: NBK547595

Related Diseases for Hereditary Distal Renal Tubular Acidosis

Diseases in the Distal Renal Tubular Acidosis family:

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

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, with hemolytic anemia 30.1 WDR72 SLC4A1
2 metabolic acidosis 29.6 SLC4A1 ATP6V1B1 ATP6V0A4
3 nephrocalcinosis 29.6 SLC4A1 ATP6V1B1 ATP6V0A4
4 distal renal tubular acidosis 29.4 WDR72 SLC4A1 ATP6V1B1 ATP6V0A4
5 nephrolithiasis, calcium oxalate 29.3 SLC4A1 ATP6V1B1 ATP6V0A4
6 renal tubular acidosis, distal, autosomal recessive 28.5 SLC4A1 FOXI1 ATP6V1B1 ATP6V0A4
7 renal tubular acidosis 28.5 WDR72 SLC4A1 FOXI1 ATP6V1B1 ATP6V0A4
8 renal tubular acidosis, distal, autosomal dominant 10.3
9 branchiootic syndrome 1 10.3
10 sensorineural hearing loss 10.3
11 hypokalemia 10.3
12 hemolytic anemia 10.3
13 fanconi syndrome 10.2
14 renal tubular acidosis, distal, with progressive nerve deafness 10.1
15 osteomalacia 10.1
16 rickets 10.1
17 osteopetrosis 10.1
18 constipation 10.1
19 cataract 10.1
20 fructose intolerance, hereditary 10.0
21 renal tubular acidosis iii 10.0
22 cystinosis 10.0
23 medullary sponge kidney 9.9 ATP6V1B1 ATP6V0A4
24 osteopetrosis, autosomal recessive 7 9.8 ATP6V1B1 ATP6V0A4
25 osteopetrosis, autosomal recessive 4 9.8 ATP6V1B1 ATP6V0A4
26 osteopetrosis, autosomal recessive 1 9.8 ATP6V1B1 ATP6V0A4
27 hereditary elliptocytosis 9.8 SLC4A1 ATP6V0A4
28 osteopetrosis, autosomal recessive 6 9.8 ATP6V1B1 ATP6V0A4
29 vestibular disease 9.6 FOXI1 ATP6V1B1
30 pendred syndrome 9.6 SLC4A1 FOXI1
31 osteopetrosis, autosomal recessive 3 9.5 SLC4A1 ATP6V1B1 ATP6V0A4
32 renal tubular transport disease 9.5 SLC4A1 ATP6V1B1 ATP6V0A4
33 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 FOXI1 ATP6V1B1
34 autosomal recessive disease 9.4 ATP6V1B1 ATP6V0A4
35 inner ear disease 9.4 FOXI1 ATP6V1B1
36 auditory system disease 9.2 FOXI1 ATP6V1B1 ATP6V0A4

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



Diseases related to Hereditary Distal Renal Tubular Acidosis

Symptoms & Phenotypes for Hereditary Distal Renal Tubular Acidosis

MGI Mouse Phenotypes related to Hereditary Distal Renal Tubular Acidosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.55 ATP6V0A4 ATP6V1B1 FOXI1 SLC4A1 WDR72
2 hearing/vestibular/ear MP:0005377 9.43 ATP6V0A4 ATP6V1B1 FOXI1
3 skeleton MP:0005390 9.26 ATP6V0A4 ATP6V1B1 FOXI1 WDR72
4 taste/olfaction MP:0005394 8.62 ATP6V0A4 ATP6V1B1

Drugs & Therapeutics for Hereditary Distal Renal Tubular Acidosis

Search Clinical Trials , NIH Clinical Center for Hereditary Distal Renal Tubular Acidosis

Genetic Tests for Hereditary Distal Renal Tubular Acidosis

Anatomical Context for Hereditary Distal Renal Tubular Acidosis

MalaCards organs/tissues related to Hereditary Distal Renal Tubular Acidosis:

40
Bone, Kidney, Testes

Publications for Hereditary Distal Renal Tubular Acidosis

Articles related to Hereditary Distal Renal Tubular Acidosis:

(show top 50) (show all 77)
# Title Authors PMID Year
1
Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations. 61 24
30028003 2018
2
Treatment and long-term outcome in primary distal renal tubular acidosis. 24
30773598 2019
3
Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis. 24
30256676 2018
4
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. 24
29725771 2018
5
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. 24
29242249 2018
6
Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance. 24
28005240 2017
7
Clinical and molecular aspects of distal renal tubular acidosis in children. 24
28188436 2017
8
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. 24
28233610 2017
9
Selective screening for distal renal tubular acidosis in recurrent kidney stone formers: initial experience and comparison of the simultaneous furosemide and fludrocortisone test with the short ammonium chloride test. 24
26961999 2016
10
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families. 24
27247958 2016
11
The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers. 24
26453614 2016
12
Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing. 24
26571219 2016
13
Timing, rates and spectra of human germline mutation. 24
26656846 2016
14
A novel mutation pattern of kidney anion exchanger 1 gene in patients with distal renal tubular acidosis in Iran. 24
25957428 2015
15
Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit. 24
25164082 2014
16
Everything you need to know about distal renal tubular acidosis in autoimmune disease. 24
24682397 2014
17
Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis. 24
23729491 2013
18
Distal renal tubular acidosis: a hereditary disease with an inadequate urinary H⁺ excretion. 24
23640117 2013
19
Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients. 24
22919024 2012
20
dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state. 24
22126643 2012
21
Clinical outcome of children with primary distal renal tubular acidosis. 24
22145505 2011
22
Clinical profile of distal renal tubular acidosis. 24
21422623 2011
23
Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis. 24
20028337 2010
24
Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies. 24
18266205 2008
25
Urinary acidification assessed by simultaneous furosemide and fludrocortisone treatment: an alternative to ammonium chloride. 24
17410104 2007
26
Inherited renal acidoses. 24
17557941 2007
27
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. 24
16611712 2006
28
Long-term outcome in children with primary distal renal tubular acidosis. 24
15876593 2005
29
Chronic acidosis-induced alteration in bone bicarbonate and phosphate. 24
12759230 2003
30
Bone histology and bone mineral density after correction of acidosis in distal renal tubular acidosis. 24
12427141 2002
31
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. 24
12414817 2002
32
Failure to thrive in children with primary distal type renal tubular acidosis. 24
12632787 2002
33
Renal tubular acidosis: the clinical entity. 24
12138150 2002
34
Inherited distal renal tubular acidosis. 24
12138152 2002
35
Dosage of potassium citrate in the correction of urinary abnormalities in pediatric distal renal tubular acidosis patients. 24
11840381 2002
36
Consultation with the specialist: renal tubular acidosis. 24
11483854 2001
37
Bone mineral density and histology in distal renal tubular acidosis. 24
11231364 2001
38
The effects of acid on bone. 24
10926173 2000
39
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. 24
9916796 1999
40
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. 24
9600966 1998
41
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. 24
9312167 1997
42
Primary distal tubular acidosis in childhood: clinical study and long-term follow-up of 28 patients. 24
1640289 1992
43
Renal cyst formation as a complication of primary distal renal tubular acidosis. 24
1944751 1991
44
Endemic primary distal renal tubular acidosis in Thailand. 24
2385736 1990
45
Incidence of radiographically evident bone disease, nephrocalcinosis, and nephrolithiasis in various types of renal tubular acidosis. 24
7088070 1982
46
The excretion of acid in renal disease. 24
13658353 1959
47
ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis. 61
31733597 2019
48
Hereditary Distal Renal Tubular Acidosis 61
31600044 2019
49
Type 3 renal tubular acidosis associated with growth hormone deficiency. 61
28888090 2017
50
[Clinical features of hereditary distal renal tubular acidosis and SLC4A1 gene mutation]. 61
28407820 2017

Variations for Hereditary Distal Renal Tubular Acidosis

Expression for Hereditary Distal Renal Tubular Acidosis

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

Pathways for Hereditary Distal Renal Tubular Acidosis

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

# Super pathways Score Top Affiliating Genes
1 11.44 ATP6V1B1 ATP6V0A4
2
Show member pathways
11.27 ATP6V1B1 ATP6V0A4
3
Show member pathways
11.25 SLC4A1 ATP6V1B1 ATP6V0A4
4 10.92 ATP6V1B1 ATP6V0A4

GO Terms for Hereditary Distal Renal Tubular Acidosis

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.61 SLC4A1 ATP6V1B1 ATP6V0A4
2 sensory perception of sound GO:0007605 9.48 ATP6V1B1 ATP6V0A4
3 proton transmembrane transport GO:1902600 9.46 ATP6V1B1 ATP6V0A4
4 ossification GO:0001503 9.4 ATP6V1B1 ATP6V0A4
5 insulin receptor signaling pathway GO:0008286 9.37 ATP6V1B1 ATP6V0A4
6 inner ear morphogenesis GO:0042472 9.32 FOXI1 ATP6V1B1
7 transferrin transport GO:0033572 9.26 ATP6V1B1 ATP6V0A4
8 excretion GO:0007588 9.16 ATP6V1B1 ATP6V0A4
9 phagosome acidification GO:0090383 8.96 ATP6V1B1 ATP6V0A4
10 regulation of pH GO:0006885 8.62 ATP6V1B1 ATP6V0A4

Molecular functions related to Hereditary Distal Renal Tubular Acidosis 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 Hereditary Distal Renal Tubular Acidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....