AD-DRTA
MCID: RNL046
MIFTS: 43

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

Categories: Bone 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 57 53 75 29 55 6
Rta, Distal Type, Autosomal Dominant 57 53
Renal Tubular Acidosis, Distal, Ad 57 13
Renal Tubular Acidosis I 57 75
Rta, Gradient Type 57 53
Rta, Classic Type 57 53
Autosomal Dominant Slc4a1-Associated Distal Renal Tubular Acidosis 53
Acidosis, Tubular, Renal, Distal, Autosomal Dominant 40
Autosomal Dominant Distal Renal Tubular Acidosis 59
Autosomal Dominant Rta Distal Type 75
Distal Renal Tubular Acidosis 73
Renal Tubular Acidosis 1 53
Rta Gradient Type 75
Rta Classic Type 75
Ad Drta 59
Ad-Drta 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant distal renal tubular acidosis
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant form
multiple dominant and a recessive form(s)


HPO:

32
renal tubular acidosis, distal, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

OMIM 57 179800
Orphanet 59 ORPHA93608
MESH via Orphanet 45 C538565
UMLS via Orphanet 74 C2931885
ICD10 via Orphanet 34 N25.8
MeSH 44 D000141
UMLS 73 C1704380

Summaries for Renal Tubular Acidosis, Distal, Autosomal Dominant

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93608Disease definitionAutosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) 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 : Renal Tubular Acidosis, Distal, Autosomal Dominant, also known as rta, distal type, autosomal dominant, is related to renal tubular acidosis, distal and 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)), and among its related pathways/superpathways are Phagosome and Insulin receptor recycling. The drugs Potassium Citrate and Citric Acid 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 : 75 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.

Wikipedia : 76 Distal renal tubular acidosis (dRTA) or Type 1 renal tubular acidosis (RTA) is the classical form of... more...

Description from OMIM: 179800

Related Diseases for Renal Tubular Acidosis, Distal, Autosomal Dominant

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 pathologic fracture 32 HP:0002756
3 postnatal growth retardation 32 HP:0008897
4 periodic hypokalemic paresis 32 HP:0008153
5 hypocalcemia 32 HP:0002901
6 nephrocalcinosis 32 HP:0000121
7 osteomalacia 32 HP:0002749
8 renal tubular acidosis 32 HP:0001947
9 periodic paralysis 32 HP:0003768

MGI Mouse Phenotypes related to Renal Tubular Acidosis, Distal, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 ATP6V0A4 ATP6V1B1 CA2 SLC4A1

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 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Potassium Citrate Approved, Investigational, Vet_approved Phase 3,Not Applicable
2
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 77-92-9 311
3 Citrate Phase 3,Not Applicable
4 Expectorants Phase 3,Not Applicable
5 Natriuretic Agents Phase 3,Not Applicable
6 diuretics Phase 3,Not Applicable
7 Respiratory System Agents Phase 3,Not Applicable
8
Furosemide Approved, Vet_approved 54-31-9 3440
9
Fludrocortisone Approved, Investigational 127-31-1 31378
10
Acetazolamide Approved, Vet_approved Not Applicable 59-66-5 1986
11 Sodium Potassium Chloride Symporter Inhibitors
12 Anti-Inflammatory Agents
13 Calcium, Dietary Not Applicable
14 Anticonvulsants Not Applicable
15 Anticoagulants Not Applicable
16 Carbonic Anhydrase Inhibitors Not Applicable
17 Chelating Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study Evaluating Subjects With Distal Renal Tubular Acidosis Not yet recruiting NCT03644706 Phase 3 ADV7103;Placebos
2 Influence of Polymorphisms in the ATP6V1 Gene of the V-ATPase on the Development of Incomplete Distal Renal Tubular Acidosis Completed NCT01690039 Furosemide-Fludrocortisone-Test (test for urinary acidification)
3 Effects of Potassium Citrate in Urine of Children With Elevated Calcium in Urine and Kidney Stones Completed NCT00120731 Not Applicable Potassium Citrate;Acetazolamide
4 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital Not yet recruiting NCT03268460

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:

41
Bone, Kidney

Publications for Renal Tubular Acidosis, Distal, Autosomal Dominant

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

# Title Authors Year
1
Sodium thiosulphate in the treatment of renal tubular acidosis I with nephrocalcinosis. ( 8009183 )
1994

Variations for Renal Tubular Acidosis, Distal, Autosomal Dominant

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

75
# 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

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

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC4A1 NM_000342.3(SLC4A1): c.1766G> A (p.Arg589His) single nucleotide variant Pathogenic rs121912744 GRCh37 Chromosome 17, 42333075: 42333075
2 SLC4A1 NM_000342.3(SLC4A1): c.1766G> A (p.Arg589His) single nucleotide variant Pathogenic rs121912744 GRCh38 Chromosome 17, 44255707: 44255707
3 SLC4A1 NM_000342.3(SLC4A1): c.1765C> T (p.Arg589Cys) single nucleotide variant Pathogenic rs121912745 GRCh37 Chromosome 17, 42333076: 42333076
4 SLC4A1 NM_000342.3(SLC4A1): c.1765C> T (p.Arg589Cys) single nucleotide variant Pathogenic rs121912745 GRCh38 Chromosome 17, 44255708: 44255708
5 SLC4A1 NM_000342.3(SLC4A1): c.1838C> T (p.Ser613Phe) single nucleotide variant Pathogenic rs121912746 GRCh37 Chromosome 17, 42332627: 42332627
6 SLC4A1 NM_000342.3(SLC4A1): c.1838C> T (p.Ser613Phe) single nucleotide variant Pathogenic rs121912746 GRCh38 Chromosome 17, 44255259: 44255259
7 SLC4A1 NM_000342.3(SLC4A1): c.1765C> A (p.Arg589Ser) single nucleotide variant Pathogenic rs121912745 GRCh37 Chromosome 17, 42333076: 42333076
8 SLC4A1 NM_000342.3(SLC4A1): c.1765C> A (p.Arg589Ser) single nucleotide variant Pathogenic rs121912745 GRCh38 Chromosome 17, 44255708: 44255708
9 SLC4A1 SLC4A1, 13-BP INS, 9-BP DEL indel Pathogenic
10 SLC4A1 NM_000342.3(SLC4A1): c.539G> A (p.Arg180His) single nucleotide variant Conflicting interpretations of pathogenicity rs147390654 GRCh37 Chromosome 17, 42337247: 42337247
11 SLC4A1 NM_000342.3(SLC4A1): c.539G> A (p.Arg180His) single nucleotide variant Conflicting interpretations of pathogenicity rs147390654 GRCh38 Chromosome 17, 44259879: 44259879
12 SLC4A1 NM_000342.3(SLC4A1): c.1574C> T (p.Ser525Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 42334770: 42334770
13 SLC4A1 NM_000342.3(SLC4A1): c.1574C> T (p.Ser525Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 44257402: 44257402

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

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.55 AMBP ATP6V0A4 ATP6V1B1 CA2 SLC4A1
2 blood microparticle GO:0072562 9.37 AMBP SLC4A1
3 apical part of cell GO:0045177 9.32 ATP6V0A4 CA2
4 microvillus GO:0005902 9.26 ATP6V1B1 CA2
5 basolateral plasma membrane GO:0016323 9.13 ATP6V1B1 CA2 SLC4A1
6 vacuolar proton-transporting V-type ATPase complex GO:0016471 8.62 ATP6V0A4 ATP6V1B1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.65 ATP6V0A4 ATP6V1B1 SLC4A1
2 sensory perception of sound GO:0007605 9.49 ATP6V0A4 ATP6V1B1
3 proton transmembrane transport GO:1902600 9.46 ATP6V0A4 ATP6V1B1
4 ossification GO:0001503 9.43 ATP6V0A4 ATP6V1B1
5 insulin receptor signaling pathway GO:0008286 9.4 ATP6V0A4 ATP6V1B1
6 bicarbonate transport GO:0015701 9.37 CA2 SLC4A1
7 excretion GO:0007588 9.32 ATP6V0A4 ATP6V1B1
8 transferrin transport GO:0033572 9.26 ATP6V0A4 ATP6V1B1
9 ATP hydrolysis coupled proton transport GO:0015991 9.16 ATP6V0A4 ATP6V1B1
10 regulation of intracellular pH GO:0051453 8.96 CA2 SLC4A1
11 regulation of pH GO:0006885 8.62 ATP6V0A4 ATP6V1B1

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

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transporter activity GO:0015078 8.62 ATP6V0A4 ATP6V1B1

Sources for Renal Tubular Acidosis, Distal, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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