AD-DRTA
MCID: RNL046
MIFTS: 34

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 29 54 6
Autosomal Dominant Distal Renal Tubular Acidosis 52 58
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 Potassium citrate and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are muscle weakness and pathologic fracture

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 pathologic fracture 31 HP:0002756
3 postnatal growth retardation 31 HP:0008897
4 periodic hypokalemic paresis 31 HP:0008153
5 hypocalcemia 31 HP:0002901
6 nephrocalcinosis 31 HP:0000121
7 osteomalacia 31 HP:0002749
8 renal tubular acidosis 31 HP:0001947
9 periodic paralysis 31 HP:0003768

Symptoms via clinical synopsis from OMIM:

56
Lab:
hypocalcemia
fixed urinary specific gravity
fixed urinary ph of about 5.0
high serum chloride
low serum bicarbonate

Skel:
osteomalacia
pathologic fractures

Muscle:
periodic paralysis
hypokalemic muscle weakness

G U:
nephrocalcinosis

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 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Potassium citrate Approved, Investigational, Vet_approved Phase 3
2
Sodium citrate Approved, Investigational Phase 3 68-04-2
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
4 Respiratory System Agents Phase 3
5 Natriuretic Agents Phase 3
6 Citrate Phase 3
7 diuretics Phase 3
8 Expectorants Phase 3
9
Acetazolamide Approved, Vet_approved 59-66-5 1986
10
Calcium Approved, Nutraceutical 7440-70-2 271
11 Anticoagulants
12 Chelating Agents
13 Calcium, Dietary
14 Carbonic Anhydrase Inhibitors
15 Anticonvulsants

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 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) Recruiting NCT03644706 Phase 3 ADV7103;Placebos
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 Renal Tubular Acidosis, Distal, Autosomal Dominant 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 25)
# 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. 56 6
9312167 1997
3
Dominant inheritance in a family with familial renal tubular acidosis. 56 6
4116984 1972
4
Hereditary Distal Renal Tubular Acidosis 6
31600044 2019
5
Inherited renal acidoses. 56
17557941 2007
6
Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis. 6
12227829 2002
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. 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. 54
9497368 1998
24
Sodium thiosulphate in the treatment of renal tubular acidosis I with nephrocalcinosis. 61
8009183 1994
25
The renal excretion of hydrogen ion in renal tubular acidosis. I. quantitative assessment of the response to ammonium chloride as an acid load. 61
13726399 1960

Variations for Renal Tubular Acidosis, Distal, Autosomal Dominant

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC4A1 NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His)SNV Pathogenic 17763 rs121912744 17:42333075-42333075 17:44255707-44255707
2 SLC4A1 NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)SNV Pathogenic 17764 rs121912745 17:42333076-42333076 17:44255708-44255708
3 SLC4A1 NM_000342.4(SLC4A1):c.1838C>T (p.Ser613Phe)SNV Pathogenic 17765 rs121912746 17:42332627-42332627 17:44255259-44255259
4 SLC4A1 NM_000342.4(SLC4A1):c.1765C>A (p.Arg589Ser)SNV Pathogenic 17766 rs121912745 17:42333076-42333076 17:44255708-44255708
5 SLC4A1 SLC4A1, 13-BP INS, 9-BP DELindel Pathogenic 17777
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.1574C>T (p.Ser525Phe)SNV Uncertain significance 438691 rs1555596013 17:42334770-42334770 17:44257402-44257402

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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72 UMLS via Orphanet
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