MCID: ATS493
MIFTS: 21

Autosomal Dominant Distal Renal Tubular Acidosis

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

Aliases & Classifications for Autosomal Dominant Distal Renal Tubular Acidosis

MalaCards integrated aliases for Autosomal Dominant Distal Renal Tubular Acidosis:

Name: Autosomal Dominant Distal Renal Tubular Acidosis 20 29 6
Autosomal Dominant Slc4a1-Associated Distal Renal Tubular Acidosis 20
Acidosis, Tubular, Renal, Distal, Autosomal Dominant 39
Rta, Distal Type, Autosomal Dominant 20
Renal Tubular Acidosis 1 20
Rta, Gradient Type 20
Rta, Classic Type 20

Classifications:



Summaries for Autosomal Dominant 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: 93608DefinitionA rare inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.EpidemiologyThe prevalence is unknown.Clinical descriptionDisease onset occurs in adolescence or adulthood and initial manifestations can include polyuria, polydipsia, muscle weakness and fatigue. Osteomalacia or osteopenia can occur due to calcium salt loss from the bones. Hypercalciuria, nephrolithiasis and nephrocalcinosis may result from long term chronic metabolic acidosis. Renal failure has not been described.EtiologyAD dRTA is due to mutations in the SLC4A1 gene (17q21.31) encoding the band 3 anion transport protein (AE1). This protein is found in the alpha-intercalated distal tubular cells and red blood cell membranes. Mutations in the SLC4A1 gene show a pleiotrophic effect that result in two distinct phenotypes: dRTA or red cell dysmorphologies (hereditary spherocytosis or Southeast Asian ovalocytosis) (see these terms).Genetic counselingThis disease is inherited in an autosomal dominant manner and genetic counseling is possible.Visit the Orphanet disease page for more resources.

MalaCards based summary : Autosomal Dominant Distal Renal Tubular Acidosis, also known as autosomal dominant slc4a1-associated distal renal tubular acidosis, is related to renal tubular acidosis, distal, 1 and slc4a1-associated distal renal tubular acidosis. An important gene associated with Autosomal Dominant Distal Renal Tubular Acidosis is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)).

Related Diseases for Autosomal Dominant 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 Dominant Distal Renal Tubular Acidosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, 1 11.5
2 slc4a1-associated distal renal tubular acidosis 11.2
3 renal tubular acidosis 10.7
4 distal renal tubular acidosis 10.7
5 metabolic acidosis 10.5
6 nephrocalcinosis 10.5
7 hypokalemia 10.4
8 urolithiasis 10.0
9 nephrolithiasis 10.0

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



Diseases related to Autosomal Dominant Distal Renal Tubular Acidosis

Symptoms & Phenotypes for Autosomal Dominant Distal Renal Tubular Acidosis

Drugs & Therapeutics for Autosomal Dominant Distal Renal Tubular Acidosis

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

Genetic Tests for Autosomal Dominant Distal Renal Tubular Acidosis

Genetic tests related to Autosomal Dominant Distal Renal Tubular Acidosis:

# Genetic test Affiliating Genes
1 Autosomal Dominant Distal Renal Tubular Acidosis 29 SLC4A1

Anatomical Context for Autosomal Dominant Distal Renal Tubular Acidosis

Publications for Autosomal Dominant Distal Renal Tubular Acidosis

Articles related to Autosomal Dominant Distal Renal Tubular Acidosis:

(show all 22)
# Title Authors PMID Year
1
Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis. 61 6
12227829 2002
2
Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells. 6
11756190 2002
3
Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells. 6
10926824 2000
4
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. 6
9600966 1998
5
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. 6
9312167 1997
6
Immune-related potassium-losing interstitial nephritis: a comparison with distal renal tubular acidosis. 6
8210309 1993
7
Nephrocalcinosis: another cause of renal erythrocytosis. 6
698610 1978
8
Dominant inheritance in a family with familial renal tubular acidosis. 6
4116984 1972
9
A different clinical manifestation in a Japanese family with autosomal dominant distal renal tubular acidosis caused by SLC4A1 mutation. 61
32632909 2020
10
[Distal Renal Tubular Acidosis: Clinical Variability in the Same Family]. 61
31445535 2019
11
A Family with Autosomal Dominant Distal Renal Tubular Acidosis Presents with Atypical Phenotype Caused by a Missence Mutation (R388C) of the Human Kidney Anion Exchanger. 61
30554219 2019
12
Genetic defects underlying renal stone disease. 61
27838384 2016
13
The need for genetic study to diagnose some cases of distal renal tubular acidosis. 61
27493007 2016
14
Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family. 61
28509104 2015
15
Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA. 61
22518001 2012
16
A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype. 61
20960171 2010
17
A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells. 61
14734552 2004
18
Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis. 61
12539048 2003
19
Atypical distal renal tubular acidosis confirmed by mutation analysis. 61
11149111 2000
20
Inherited renal tubular acidosis. 61
10990375 2000
21
Autosomal dominant distal renal tubular acidosis and the AE1 gene. 61
10352215 1999
22
Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger. 61
9497368 1998

Variations for Autosomal Dominant Distal Renal Tubular Acidosis

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

6 (show top 50) (show all 132)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC4A1 NM_000342.4(SLC4A1):c.1838C>T (p.Ser613Phe) SNV Pathogenic 17765 rs121912746 17:42332627-42332627 17:44255259-44255259
2 SLC4A1 NM_000342.4(SLC4A1):c.1765C>A (p.Arg589Ser) SNV Pathogenic 17766 rs121912745 17:42333076-42333076 17:44255708-44255708
3 SLC4A1 NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) SNV Pathogenic 17771 rs121912751 17:42328609-42328609 17:44251241-44251241
4 SLC4A1 SLC4A1, 13-BP INS, 9-BP DEL Indel Pathogenic 17777
5 SLC4A1 NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His) SNV Pathogenic 17763 rs121912744 17:42333075-42333075 17:44255707-44255707
6 SLC4A1 NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) SNV Pathogenic 17764 rs121912745 17:42333076-42333076 17:44255708-44255708
7 SLC4A1 NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) SNV Likely pathogenic 17764 rs121912745 17:42333076-42333076 17:44255708-44255708
8 SLC4A1 NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) SNV Conflicting interpretations of pathogenicity 17756 rs45562031 17:42338993-42338993 17:44261625-44261625
9 SLC4A1 NM_000342.4(SLC4A1):c.*1791C>T SNV Uncertain significance 892457 17:42326035-42326035 17:44248667-44248667
10 SLC4A1 NM_000342.4(SLC4A1):c.*1766C>T SNV Uncertain significance 892458 17:42326060-42326060 17:44248692-44248692
11 SLC4A1 NM_000342.4(SLC4A1):c.*1305G>A SNV Uncertain significance 892510 17:42326521-42326521 17:44249153-44249153
12 SLC4A1 NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) SNV Uncertain significance 255914 rs147390654 17:42337247-42337247 17:44259879-44259879
13 SLC4A1 NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=) SNV Uncertain significance 737923 rs754017629 17:42330604-42330604 17:44253236-44253236
14 SLC4A1 NM_000342.4(SLC4A1):c.1626+7G>A SNV Uncertain significance 890132 17:42334711-42334711 17:44257343-44257343
15 SLC4A1 NM_000342.4(SLC4A1):c.1471G>A (p.Val491Met) SNV Uncertain significance 890133 17:42334873-42334873 17:44257505-44257505
16 SLC4A1 NM_000342.4(SLC4A1):c.1202T>G (p.Phe401Cys) SNV Uncertain significance 889517 17:42335434-42335434 17:44258066-44258066
17 SLC4A1 NM_000342.4(SLC4A1):c.1179C>T (p.Tyr393=) SNV Uncertain significance 890177 17:42335457-42335457 17:44258089-44258089
18 SLC4A1 NM_000342.4(SLC4A1):c.344C>T (p.Thr115Ile) SNV Uncertain significance 888575 17:42338008-42338008 17:44260640-44260640
19 SLC4A1 NM_000342.4(SLC4A1):c.319C>T (p.Leu107Phe) SNV Uncertain significance 890275 17:42338033-42338033 17:44260665-44260665
20 SLC4A1 NM_000342.4(SLC4A1):c.-59G>T SNV Uncertain significance 890328 17:42340293-42340293 17:44262925-44262925
21 SLC4A1 NM_000342.4(SLC4A1):c.2019G>A (p.Leu673=) SNV Uncertain significance 890658 17:42331902-42331902 17:44254534-44254534
22 SLC4A1 NM_000342.4(SLC4A1):c.261C>A (p.Asn87Lys) SNV Uncertain significance 890276 17:42338091-42338091 17:44260723-44260723
23 SLC4A1 NM_000342.3(SLC4A1):c.-62G>A SNV Uncertain significance 17754 rs387906565 17:42340296-42340296 17:44262928-44262928
24 SLC4A1 NM_000342.4(SLC4A1):c.697C>T (p.Arg233Cys) SNV Uncertain significance 889580 17:42336710-42336710 17:44259342-44259342
25 SLC4A1 NM_000342.4(SLC4A1):c.*1409T>C SNV Uncertain significance 891314 17:42326417-42326417 17:44249049-44249049
26 SLC4A1 NM_000342.4(SLC4A1):c.*984T>G SNV Uncertain significance 891378 17:42326842-42326842 17:44249474-44249474
27 SLC4A1 NM_000342.4(SLC4A1):c.*624G>A SNV Uncertain significance 891437 17:42327202-42327202 17:44249834-44249834
28 SLC4A1 NM_000342.4(SLC4A1):c.*544C>T SNV Uncertain significance 891438 17:42327282-42327282 17:44249914-44249914
29 SLC4A1 NM_000342.4(SLC4A1):c.*431T>C SNV Uncertain significance 891439 17:42327395-42327395 17:44250027-44250027
30 SLC4A1 NM_000342.4(SLC4A1):c.*265A>C SNV Uncertain significance 891520 17:42327561-42327561 17:44250193-44250193
31 SLC4A1 NM_000342.4(SLC4A1):c.2586C>A (p.Val862=) SNV Uncertain significance 891577 17:42328596-42328596 17:44251228-44251228
32 SLC4A1 NM_000342.4(SLC4A1):c.*936G>T SNV Uncertain significance 891629 17:42326890-42326890 17:44249522-44249522
33 SLC4A1 NM_000342.4(SLC4A1):c.*356G>C SNV Uncertain significance 891697 17:42327470-42327470 17:44250102-44250102
34 SLC4A1 NM_000342.4(SLC4A1):c.*54A>G SNV Uncertain significance 891521 17:42327772-42327772 17:44250404-44250404
35 SLC4A1 NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr) SNV Uncertain significance 891954 17:42335378-42335378 17:44258010-44258010
36 SLC4A1 NM_000342.4(SLC4A1):c.636A>G (p.Ser212=) SNV Uncertain significance 323515 rs886053000 17:42336923-42336923 17:44259555-44259555
37 SLC4A1 NM_000342.4(SLC4A1):c.1431+15G>T SNV Uncertain significance 323508 rs886052999 17:42335012-42335012 17:44257644-44257644
38 SLC4A1 NM_000342.4(SLC4A1):c.*977G>A SNV Uncertain significance 323489 rs886052993 17:42326849-42326849 17:44249481-44249481
39 SLC4A1 NM_000342.4(SLC4A1):c.*1316C>T SNV Uncertain significance 323482 rs886052991 17:42326510-42326510 17:44249142-44249142
40 SLC4A1 NM_000342.4(SLC4A1):c.*872G>C SNV Uncertain significance 323492 rs886052994 17:42326954-42326954 17:44249586-44249586
41 SLC4A1 NM_000342.4(SLC4A1):c.-65C>A SNV Uncertain significance 323523 rs886053001 17:42340299-42340299 17:44262931-44262931
42 SLC4A1 NM_000342.4(SLC4A1):c.*1273G>T SNV Uncertain significance 323484 rs769140134 17:42326553-42326553 17:44249185-44249185
43 SLC4A1 NM_000342.4(SLC4A1):c.*1198A>T SNV Uncertain significance 323487 rs886052992 17:42326628-42326628 17:44249260-44249260
44 SLC4A1 NM_000342.4(SLC4A1):c.1552C>T (p.Arg518Cys) SNV Uncertain significance 830029 rs868742796 17:42334792-42334792 17:44257424-44257424
45 SLC4A1 NM_000342.4(SLC4A1):c.2482-9C>T SNV Uncertain significance 323502 rs886052995 17:42328709-42328709 17:44251341-44251341
46 SLC4A1 NM_000342.4(SLC4A1):c.*1832G>A SNV Uncertain significance 323474 rs886052988 17:42325994-42325994 17:44248626-44248626
47 SLC4A1 NM_000342.4(SLC4A1):c.1574C>T (p.Ser525Phe) SNV Uncertain significance 438691 rs1555596013 17:42334770-42334770 17:44257402-44257402
48 SLC4A1 NM_000342.4(SLC4A1):c.*1693G>A SNV Uncertain significance 889077 17:42326133-42326133 17:44248765-44248765
49 SLC4A1 NM_000342.4(SLC4A1):c.*753C>T SNV Uncertain significance 889211 17:42327073-42327073 17:44249705-44249705
50 SLC4A1 NM_000342.4(SLC4A1):c.*353G>C SNV Uncertain significance 889271 17:42327473-42327473 17:44250105-44250105

Expression for Autosomal Dominant Distal Renal Tubular Acidosis

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

Pathways for Autosomal Dominant Distal Renal Tubular Acidosis

GO Terms for Autosomal Dominant Distal Renal Tubular Acidosis

Sources for Autosomal Dominant Distal Renal Tubular Acidosis

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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