DRTA4
MCID: RNL128
MIFTS: 30
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Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia (DRTA4)
Categories:
Blood diseases, Genetic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia:
Name: Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia
57
Characteristics:Orphanet epidemiological data:58
distal renal tubular acidosis with anemia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; HPO:31
renal tubular acidosis, distal, 4, with hemolytic anemia:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Nephrological diseases Blood diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Renal tubular acidosis, distal, with hemolytic anemia: A disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis.
Renal tubular acidosis, distal, with normal red cell morphology: A 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. MalaCards based summary : Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia, also known as renal tubular acidosis, distal, with hemolytic anemia, is related to distal renal tubular acidosis with hemolytic anemia and hereditary distal renal tubular acidosis. An important gene associated with Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)). Affiliated tissues include kidney and bone, and related phenotypes are hemolytic anemia and reticulocytosis |
Diseases in the Distal Renal Tubular Acidosis with Hemolytic Anemia family:
Diseases related to Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia:31 (show all 15)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:611590 (Updated 05-Mar-2021)MGI Mouse Phenotypes related to Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia:46
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Interventional clinical trials:
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MalaCards organs/tissues related to Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia:40
Kidney,
Bone
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Articles related to Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia:
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ClinVar genetic disease variations for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia:6 (show all 11)
UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia:73
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Search
GEO
for disease gene expression data for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia.
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Biological processes related to Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia according to GeneCards Suite gene sharing:
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