MCID: SLC024
MIFTS: 20

Slc4a1-Associated Distal Renal Tubular Acidosis

Categories: Bone diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Slc4a1-Associated Distal Renal Tubular Acidosis

MalaCards integrated aliases for Slc4a1-Associated Distal Renal Tubular Acidosis:

Name: Slc4a1-Associated Distal Renal Tubular Acidosis 53 25
Classic Distal Renal Tubular Acidosis 53 25
Renal Tubular Acidosis Type I 53 25
Distal Renal Tubular Acidosis 72
Rta, Classic Type 25
Classic Type Rta 53

Classifications:



External Ids:

UMLS 72 C1704380

Summaries for Slc4a1-Associated Distal Renal Tubular Acidosis

Genetics Home Reference : 25 SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with distal renal tubular acidosis, the kidneys are unable to remove enough acid from the body, and the blood becomes too acidic. This chemical imbalance is called metabolic acidosis. The inability to remove acids from the body often results in slowed growth and may also lead to softening and weakening of the bones, called rickets in children and osteomalacia in adults. This bone disorder is characterized by bone pain, bowed legs, and difficulty walking. In addition, most children and adults with SLC4A1-associated distal renal tubular acidosis have excess calcium in the urine (hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). In rare cases, these kidney abnormalities lead to life-threatening kidney failure. Affected individuals may also have low levels of potassium in the blood (hypokalemia). SLC4A1 SLC4A1 Individuals with the features described above have complete distal renal tubular acidosis, which usually becomes apparent in childhood. Some people do not develop metabolic acidosis even though their kidneys have trouble removing acids; these individuals are said to have incomplete distal renal tubular acidosis. Additionally, these individuals may have other features of distal renal tubular acidosis, such as bone problems and kidney stones. Often, people who initially have incomplete distal renal tubular acidosis develop metabolic acidosis later in life. Some people with SLC4A1-associated distal renal tubular acidosis also have blood cell abnormalities. These can vary in severity from no symptoms to a condition called hemolytic anemia, in which red blood cells prematurely break down (undergo hemolysis), causing a shortage of red blood cells (anemia). Hemolytic anemia can lead to unusually pale skin (pallor), extreme tiredness (fatigue), shortness of breath (dyspnea), and an enlarged spleen (splenomegaly). SLC4A1 There are two forms of SLC4A1-associated distal renal tubular acidosis; they are distinguished by their inheritance pattern. The autosomal dominant form is more common and is usually less severe than the autosomal recessive form. The autosomal dominant form can be associated with incomplete or complete distal renal tubular acidosis and is rarely associated with blood cell abnormalities. The autosomal recessive form is always associated with complete distal renal tubular acidosis and is more commonly associated with blood cell abnormalities, although not everyone with this form has abnormal blood cells. SLC4A1

MalaCards based summary : Slc4a1-Associated Distal Renal Tubular Acidosis, also known as classic distal renal tubular acidosis, is related to renal tubular acidosis, distal, autosomal dominant and renal tubular acidosis. The drugs Sodium citrate and Potassium Citrate have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and bone.

Related Diseases for Slc4a1-Associated Distal Renal Tubular Acidosis

Diseases related to Slc4a1-Associated Distal Renal Tubular Acidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, autosomal dominant 11.7
2 renal tubular acidosis 10.3
3 distal renal tubular acidosis 10.3
4 metabolic acidosis 10.1
5 nephrocalcinosis 10.1
6 hypokalemia 10.1
7 autoimmune disease 10.0
8 systemic lupus erythematosus 10.0
9 glycogen storage disease ia 10.0
10 exanthem 10.0
11 hyperuricemia 10.0
12 glycogen storage disease 10.0
13 actinomycosis 10.0
14 lupus erythematosus 10.0
15 glycogen storage disease due to glucose-6-phosphatase deficiency 10.0

Graphical network of the top 20 diseases related to Slc4a1-Associated Distal Renal Tubular Acidosis:



Diseases related to Slc4a1-Associated Distal Renal Tubular Acidosis

Symptoms & Phenotypes for Slc4a1-Associated Distal Renal Tubular Acidosis

Drugs & Therapeutics for Slc4a1-Associated Distal Renal Tubular Acidosis

Drugs for Slc4a1-Associated Distal Renal Tubular Acidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# 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
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
4 Citrate Phase 3
5 Respiratory System Agents Phase 3
6 diuretics Phase 3
7 Natriuretic Agents Phase 3
8 Expectorants Phase 3
9
Acetazolamide Approved, Vet_approved 59-66-5 1986
10
Calcium Approved, Nutraceutical 7440-70-2 271
11 Chelating Agents
12 Anticoagulants
13 Anticonvulsants
14 Calcium, Dietary
15 Carbonic Anhydrase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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 Not yet recruiting NCT03831152 Phase 3 ADV7103
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 Slc4a1-Associated Distal Renal Tubular Acidosis

Genetic Tests for Slc4a1-Associated Distal Renal Tubular Acidosis

Anatomical Context for Slc4a1-Associated Distal Renal Tubular Acidosis

MalaCards organs/tissues related to Slc4a1-Associated Distal Renal Tubular Acidosis:

41
Kidney, Skin, Bone, Spleen

Publications for Slc4a1-Associated Distal Renal Tubular Acidosis

Articles related to Slc4a1-Associated Distal Renal Tubular Acidosis:

(show all 23)
# Title Authors PMID Year
1
Molecular Pathophysiology of Acid-Base Disorders. 38
31300090 2019
2
A Case of Kidney Involvement in Primary Sjögren's Syndrome. 38
28577018 2017
3
Renal tubular acidosis in renal transplant patients: the effect of immunosuppressive drugs. 38
25659354 2015
4
Medullary nephrocalcinosis, distal renal tubular acidosis and polycythaemia in a patient with nephrotic syndrome. 38
22834973 2012
5
Dental aspect of distal tubular renal acidosis with genu valgum secondary to rickets: a case report. 38
22567455 2012
6
[45-year-old woman with muscle weakness and hypopotassemia]. 38
20941474 2011
7
[What is your diagnosis? Incomplete renal tubular acidosis type I]. 38
15008012 2004
8
[Bartter's syndrome--hypokalemic renal tubular syndrome]. 38
14626562 2003
9
[Distal renal tubular acidosis with rhabdomyolysis as the presenting form in 4 pregnant women]. 38
11464655 2001
10
Atypical distal renal tubular acidosis confirmed by mutation analysis. 38
11149111 2000
11
Prevalence and characterization of renal tubular acidosis in patients with osteopenia and osteoporosis and in non-porotic controls. 38
10862634 2000
12
[Sjögren syndrome associated with renal tubular acidosis type I]. 38
15881745 2000
13
Mesangial nephropathy in Sjögren's syndrome. 38
10722261 2000
14
[Cervical actinomycosis in systemic lupus erythematosus, nephrocalcinosis and distal renal tubular acidosis (type I-RTA)]. 38
9787291 1998
15
[Type I renal tubular acidosis (type I RTA)]. 38
9277831 1997
16
An unusual presentation of Sjögren's syndrome. 38
8807219 1996
17
[The significance of citrate, uromucoid and GAG for diagnosis of renal tubular acidosis in patients with urinary calculi]. 38
8848853 1995
18
[Multiple calcium oxalate stone formation in a patient with glycogen storage disease type I (von Gierke's disease) and renal tubular acidosis type I: a case report]. 38
8362684 1993
19
What was wrong with Tiny Tim? 38
1340779 1992
20
Nephrolithiasis in renal tubular acidosis. 38
2645431 1989
21
Anorexia nervosa, laxative abuse, hypopotassemia and distal renal tubular acidosis. 38
3972559 1985
22
[Distal renal tubular acidosis with nerve deafness]. 38
6533602 1984
23
Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. 38
7386510 1980

Variations for Slc4a1-Associated Distal Renal Tubular Acidosis

Expression for Slc4a1-Associated Distal Renal Tubular Acidosis

Search GEO for disease gene expression data for Slc4a1-Associated Distal Renal Tubular Acidosis.

Pathways for Slc4a1-Associated Distal Renal Tubular Acidosis

GO Terms for Slc4a1-Associated Distal Renal Tubular Acidosis

Sources for Slc4a1-Associated 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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