AD-DRTA
MCID: RNL046
MIFTS: 37

Renal Tubular Acidosis, Distal, Autosomal Dominant (AD-DRTA)

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

Aliases & Classifications for Renal Tubular Acidosis, Distal, Autosomal Dominant

MalaCards integrated aliases for Renal Tubular Acidosis, Distal, Autosomal Dominant:

Name: Renal Tubular Acidosis, Distal, Autosomal Dominant 56 73 54
Autosomal Dominant Distal Renal Tubular Acidosis 52 58 29 6
Rta, Distal Type, Autosomal Dominant 56 52
Renal Tubular Acidosis, Distal, Ad 56 13
Renal Tubular Acidosis I 56 73
Rta, Gradient Type 56 52
Rta, Classic Type 56 52
Autosomal Dominant Slc4a1-Associated Distal Renal Tubular Acidosis 52
Acidosis, Tubular, Renal, Distal, Autosomal Dominant 39
Autosomal Dominant Rta Distal Type 73
Distal Renal Tubular Acidosis 71
Renal Tubular Acidosis 1 52
Rta Gradient Type 73
Rta Classic Type 73
Ad Drta 58
Ad-Drta 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant distal renal tubular acidosis
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant form
multiple dominant and a recessive form(s)


HPO:

31
renal tubular acidosis, distal, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

OMIM 56 179800
MeSH 43 D000141
MESH via Orphanet 44 C538565
ICD10 via Orphanet 33 N25.8
UMLS via Orphanet 72 C2931885
Orphanet 58 ORPHA93608
UMLS 71 C1704380

Summaries for Renal Tubular Acidosis, Distal, Autosomal Dominant

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93608 Definition A rare inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. Epidemiology The prevalence is unknown. Clinical description Disease 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. Etiology AD 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 counseling This disease is inherited in an autosomal dominant manner and genetic counseling is possible. Visit the Orphanet disease page for more resources.

MalaCards based summary : Renal Tubular Acidosis, Distal, Autosomal Dominant, also known as autosomal dominant distal renal tubular acidosis, is related to slc4a1-associated distal renal tubular acidosis and distal renal tubular acidosis. An important gene associated with Renal Tubular Acidosis, Distal, Autosomal Dominant is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)). The drugs Sodium citrate and Potassium citrate have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are muscle weakness and postnatal growth retardation

UniProtKB/Swiss-Prot : 73 Renal tubular acidosis, distal, autosomal dominant: An autosomal dominant 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: 179800

Related Diseases for Renal Tubular Acidosis, Distal, Autosomal Dominant

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

# Related Disease Score Top Affiliating Genes
1 slc4a1-associated distal renal tubular acidosis 11.4
2 distal renal tubular acidosis 10.6
3 metabolic acidosis 10.3
4 hypokalemia 10.3
5 renal tubular acidosis 10.1
6 nephrocalcinosis 10.0

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



Diseases related to Renal Tubular Acidosis, Distal, Autosomal Dominant

Symptoms & Phenotypes for Renal Tubular Acidosis, Distal, Autosomal Dominant

Human phenotypes related to Renal Tubular Acidosis, Distal, Autosomal Dominant:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 postnatal growth retardation 31 HP:0008897
3 nephrocalcinosis 31 HP:0000121
4 osteomalacia 31 HP:0002749
5 hypocalcemia 31 HP:0002901
6 renal tubular acidosis 31 HP:0001947
7 periodic paralysis 31 HP:0003768
8 pathologic fracture 31 HP:0002756
9 periodic hypokalemic paresis 31 HP:0008153

Symptoms via clinical synopsis from OMIM:

56
G U:
nephrocalcinosis

Lab:
hypocalcemia
fixed urinary specific gravity
fixed urinary ph of about 5.0
high serum chloride
low serum bicarbonate

Muscle:
periodic paralysis
hypokalemic muscle weakness

Skel:
osteomalacia
pathologic fractures

Metabolic:
renal tubular acidosis

Growth:
growth failure

Clinical features from OMIM:

179800

Drugs & Therapeutics for Renal Tubular Acidosis, Distal, Autosomal Dominant

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 3 68-04-2
2
Potassium citrate Approved, Investigational, Vet_approved Phase 3 866-84-2
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
4 Respiratory System Agents Phase 3
5 Citrate Phase 3
6 Expectorants Phase 3
7 diuretics Phase 3
8
Acetazolamide Approved, Vet_approved 59-66-5 1986
9 Anticonvulsants
10 Carbonic Anhydrase Inhibitors
11 Calcium, Dietary
12
Calcium Nutraceutical 7440-70-2 271

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 Active, not recruiting 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) Active, not recruiting NCT03644706 Phase 3 ADV7103;Placebo
3 Urinary Chemistry and Acid-Base Effects of Potassium Citrate in Children With Idiopathic Hypercalciuria and Urolithiasis Completed NCT00120731 Potassium Citrate;Acetazolamide
4 Stone Disease in Children and Their Families Available NCT00765531

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

Genetic Tests for Renal Tubular Acidosis, Distal, Autosomal Dominant

Genetic tests related to Renal Tubular Acidosis, Distal, Autosomal Dominant:

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

Anatomical Context for Renal Tubular Acidosis, Distal, Autosomal Dominant

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

40
Bone, Kidney

Publications for Renal Tubular Acidosis, Distal, Autosomal Dominant

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

(show all 34)
# Title Authors PMID Year
1
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. 56 6
9600966 1998
2
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. 6 56
9312167 1997
3
Dominant inheritance in a family with familial renal tubular acidosis. 6 56
4116984 1972
4
Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis. 6 61
12227829 2002
5
Hereditary Distal Renal Tubular Acidosis 6
31600044 2019
6
Inherited renal acidoses. 56
17557941 2007
7
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
8
The primary hereditary form of distal renal tubular acidosis: clinical and genetic studies in 60-member kindred. 56
8062438 1994
9
Immune-related potassium-losing interstitial nephritis: a comparison with distal renal tubular acidosis. 6
8210309 1993
10
What was wrong with Tiny Tim? 56
1340779 1992
11
Stone disease in hereditary distal renal tubular acidosis. 56
7396320 1980
12
Familial absorptive hypercalciuria and renal tubular acidosis. 56
224701 1979
13
Inactive form of erythrocyte carbonic anhydrase B in patients with primary renal tubular acidosis. 56
99456 1978
14
Nephrocalcinosis: another cause of renal erythrocytosis. 6
698610 1978
15
Hereditary renal tubular acidosis. Report of a 64 member kindred with variable clinical expression including idiopathic hypercalciuria. 56
4834851 1974
16
Familial renal tubular acidosis. 56
5725743 1968
17
Renal tubular acidosis. A family with an autosomal dominant genetic defect in renal hydrogen ion transport, with proximal tubular and collecting duct dysfunction and increased metabolism of citrate and ammonia. 56
5658868 1968
18
Familial renal tubular acidosis. 56
5653635 1968
19
Renal tubular acidosis due to amphotericin B. 56
5634966 1968
20
Familial renal tubular acidosis revisited. 56
6025225 1967
21
Familial renal tubular acidosis. 56
13739450 1961
22
Autosomal dominant distal renal tubular acidosis and the AE1 gene. 61 54
10352215 1999
23
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 54
9497368 1998
24
[Distal Renal Tubular Acidosis: Clinical Variability in the Same Family]. 61
31445535 2019
25
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
26
Genetic defects underlying renal stone disease. 61
27838384 2016
27
The need for genetic study to diagnose some cases of distal renal tubular acidosis. 61
27493007 2016
28
Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family. 61
28509104 2015
29
Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA. 61
22518001 2012
30
A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype. 61
20960171 2010
31
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
32
Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis. 61
12539048 2003
33
Atypical distal renal tubular acidosis confirmed by mutation analysis. 61
11149111 2000
34
Inherited renal tubular acidosis. 61
10990375 2000

Variations for Renal Tubular Acidosis, Distal, Autosomal Dominant

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

6 (show top 50) (show all 129) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC4A1 SLC4A1, 13-BP INS, 9-BP DELindel Pathogenic 17777
2 SLC4A1 NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His)SNV Pathogenic 17763 rs121912744 17:42333075-42333075 17:44255707-44255707
3 SLC4A1 NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)SNV Pathogenic 17764 rs121912745 17:42333076-42333076 17:44255708-44255708
4 SLC4A1 NM_000342.4(SLC4A1):c.1838C>T (p.Ser613Phe)SNV Pathogenic 17765 rs121912746 17:42332627-42332627 17:44255259-44255259
5 SLC4A1 NM_000342.4(SLC4A1):c.1765C>A (p.Arg589Ser)SNV Pathogenic 17766 rs121912745 17:42333076-42333076 17:44255708-44255708
6 SLC4A1 NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)SNV Conflicting interpretations of pathogenicity 255914 rs147390654 17:42337247-42337247 17:44259879-44259879
7 SLC4A1 NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys)SNV Conflicting interpretations of pathogenicity 323520 rs368863744 17:42338179-42338179 17:44260811-44260811
8 SLC4A1 NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr)SNV Conflicting interpretations of pathogenicity 323501 rs765911147 17:42328552-42328552 17:44251184-44251184
9 SLC4A1 NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=)SNV Conflicting interpretations of pathogenicity 323505 rs766674440 17:42330589-42330589 17:44253221-44253221
10 SLC4A1 NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys)SNV Conflicting interpretations of pathogenicity 323519 rs13306787 17:42338150-42338150 17:44260782-44260782
11 SLC4A1 NM_000342.4(SLC4A1):c.884G>A (p.Arg295His)SNV Conflicting interpretations of pathogenicity 323512 rs140424071 17:42335984-42335984 17:44258616-44258616
12 SLC4A1 NM_000342.4(SLC4A1):c.*351G>TSNV Conflicting interpretations of pathogenicity 323495 rs138242019 17:42327475-42327475 17:44250107-44250107
13 SLC4A1 NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met)SNV Conflicting interpretations of pathogenicity 323516 rs145041032 17:42337800-42337800 17:44260432-44260432
14 SLC4A1 NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)SNV Conflicting interpretations of pathogenicity 17782 rs121912757 17:42331984-42331984 17:44254616-44254616
15 SLC4A1 NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)SNV Conflicting interpretations of pathogenicity 17783 rs121912759 17:42328579-42328579 17:44251211-44251211
16 SLC4A1 NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp)SNV Conflicting interpretations of pathogenicity 64423 rs201265160 17:42327861-42327861 17:44250493-44250493
17 SLC4A1 NM_000342.4(SLC4A1):c.2547G>A (p.Val849=)SNV Conflicting interpretations of pathogenicity 891836 17:42328635-42328635 17:44251267-44251267
18 SLC4A1 NM_000342.4(SLC4A1):c.2401A>C (p.Ser801Arg)SNV Conflicting interpretations of pathogenicity 889392 17:42328867-42328867 17:44251499-44251499
19 SLC4A1 NM_000342.4(SLC4A1):c.486-10C>TSNV Conflicting interpretations of pathogenicity 892040 17:42337310-42337310 17:44259942-44259942
20 SLC4A1 NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)SNV Conflicting interpretations of pathogenicity 17756 rs45562031 17:42338993-42338993 17:44261625-44261625
21 SLC4A1 NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys)SNV Conflicting interpretations of pathogenicity 17759 rs75731670 17:42331949-42331949 17:44254581-44254581
22 SLC4A1 NM_000342.4(SLC4A1):c.1971C>T (p.Ser657=)SNV Conflicting interpretations of pathogenicity 890659 17:42331950-42331950 17:44254582-44254582
23 SLC4A1 NM_000342.4(SLC4A1):c.1928C>T (p.Ser643Phe)SNV Conflicting interpretations of pathogenicity 889445 17:42331993-42331993 17:44254625-44254625
24 SLC4A1 NM_000342.4(SLC4A1):c.1671G>A (p.Val557=)SNV Conflicting interpretations of pathogenicity 890131 17:42333170-42333170 17:44255802-44255802
25 SLC4A1 NM_000342.4(SLC4A1):c.1151G>A (p.Arg384His)SNV Conflicting interpretations of pathogenicity 890178 17:42335485-42335485 17:44258117-44258117
26 SLC4A1 NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val)SNV Conflicting interpretations of pathogenicity 891993 17:42336581-42336581 17:44259213-44259213
27 SLC4A1 NM_000342.4(SLC4A1):c.719C>T (p.Pro240Leu)SNV Conflicting interpretations of pathogenicity 889578 17:42336688-42336688 17:44259320-44259320
28 SLC4A1 NM_000342.4(SLC4A1):c.706T>G (p.Phe236Val)SNV Conflicting interpretations of pathogenicity 889579 17:42336701-42336701 17:44259333-44259333
29 SLC4A1 NM_000342.4(SLC4A1):c.672A>G (p.Ser224=)SNV Conflicting interpretations of pathogenicity 890231 17:42336887-42336887 17:44259519-44259519
30 SLC4A1 NM_000342.4(SLC4A1):c.615T>C (p.Asp205=)SNV Conflicting interpretations of pathogenicity 890797 17:42336944-42336944 17:44259576-44259576
31 SLC4A1 NM_000342.4(SLC4A1):c.567C>G (p.Leu189=)SNV Conflicting interpretations of pathogenicity 890798 17:42337219-42337219 17:44259851-44259851
32 SLC4A1 NM_000342.4(SLC4A1):c.*1393A>TSNV Conflicting interpretations of pathogenicity 891315 17:42326433-42326433 17:44249065-44249065
33 SLC4A1 NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=)SNV Conflicting interpretations of pathogenicity 737923 17:42330604-42330604 17:44253236-44253236
34 SLC4A1 NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)SNV Conflicting interpretations of pathogenicity 854724 17:42336674-42336674 17:44259306-44259306
35 SLC4A1 NM_000342.4(SLC4A1):c.*5C>TSNV Conflicting interpretations of pathogenicity 891768 17:42327821-42327821 17:44250453-44250453
36 SLC4A1 NM_000342.4(SLC4A1):c.2625G>A (p.Pro875=)SNV Conflicting interpretations of pathogenicity 890020 17:42328557-42328557 17:44251189-44251189
37 SLC4A1 NM_000342.4(SLC4A1):c.2586C>A (p.Val862=)SNV Uncertain significance 891577 17:42328596-42328596 17:44251228-44251228
38 SLC4A1 NM_000342.4(SLC4A1):c.*1791C>TSNV Uncertain significance 892457 17:42326035-42326035 17:44248667-44248667
39 SLC4A1 NM_000342.4(SLC4A1):c.*1766C>TSNV Uncertain significance 892458 17:42326060-42326060 17:44248692-44248692
40 SLC4A1 NM_000342.4(SLC4A1):c.*1693G>ASNV Uncertain significance 889077 17:42326133-42326133 17:44248765-44248765
41 SLC4A1 NM_000342.4(SLC4A1):c.*1609C>TSNV Uncertain significance 889776 17:42326217-42326217 17:44248849-44248849
42 SLC4A1 NM_000342.4(SLC4A1):c.*1409T>CSNV Uncertain significance 891314 17:42326417-42326417 17:44249049-44249049
43 SLC4A1 NM_000342.4(SLC4A1):c.1552C>T (p.Arg518Cys)SNV Uncertain significance 830029 17:42334792-42334792 17:44257424-44257424
44 SLC4A1 NM_000342.4(SLC4A1):c.1574C>T (p.Ser525Phe)SNV Uncertain significance 438691 rs1555596013 17:42334770-42334770 17:44257402-44257402
45 SLC4A1 NM_000342.4(SLC4A1):c.*1305G>ASNV Uncertain significance 892510 17:42326521-42326521 17:44249153-44249153
46 SLC4A1 NM_000342.4(SLC4A1):c.*1047T>CSNV Uncertain significance 889828 17:42326779-42326779 17:44249411-44249411
47 SLC4A1 NM_000342.4(SLC4A1):c.*1032C>TSNV Uncertain significance 889829 17:42326794-42326794 17:44249426-44249426
48 SLC4A1 NM_000342.4(SLC4A1):c.*984T>GSNV Uncertain significance 891378 17:42326842-42326842 17:44249474-44249474
49 SLC4A1 NM_000342.4(SLC4A1):c.*936G>TSNV Uncertain significance 891629 17:42326890-42326890 17:44249522-44249522
50 SLC4A1 NM_000342.4(SLC4A1):c.*753C>TSNV Uncertain significance 889211 17:42327073-42327073 17:44249705-44249705

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

73
# Symbol AA change Variation ID SNP ID
1 SLC4A1 p.Arg589Cys VAR_015104 rs121912745
2 SLC4A1 p.Arg589His VAR_015105 rs121912744
3 SLC4A1 p.Arg589Ser VAR_015106 rs121912745
4 SLC4A1 p.Ser613Phe VAR_015107 rs121912746
5 SLC4A1 p.Ala858Asp VAR_015108 rs121912751
6 SLC4A1 p.Gly609Arg VAR_058041 rs878853002

Expression for Renal Tubular Acidosis, Distal, Autosomal Dominant

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

Pathways for Renal Tubular Acidosis, Distal, Autosomal Dominant

GO Terms for Renal Tubular Acidosis, Distal, Autosomal Dominant

Sources for Renal Tubular Acidosis, Distal, Autosomal Dominant

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