MCID: RNL054
MIFTS: 24

Renal Tubular Acidosis, Distal, with Hemolytic Anemia

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Blood diseases

Aliases & Classifications for Renal Tubular Acidosis, Distal, with Hemolytic Anemia

MalaCards integrated aliases for Renal Tubular Acidosis, Distal, with Hemolytic Anemia:

Name: Renal Tubular Acidosis, Distal, with Hemolytic Anemia 57 75 29 6
Renal Tubular Acidosis, Distal, with Normal Red Cell Morphology 75 6
Renal Tubular Acidosis, Distal, Ar 57 13
Renal Tubular Acidosis, Distal, with Normal Red Cell Morphology, Included 53
Rta, Distal, Autosomal Recessive, with Hemolytic Anemia 57
Acidosis, Tubular, Renal, Distal, with Hemolytic Anemia 40
Autosomal Recessive Distal Rta with Hemolytic Anemia 75
Distal Renal Tubular Acidosis with Hemolytic Anemia 53
Distal Renal Tubular Acidosis with Anemia 59
Drta with Anemia 59
Drta-Nrc 75
Drta-Ha 75

Characteristics:

Orphanet epidemiological data:

59
distal renal tubular acidosis with anemia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
renal tubular acidosis, distal, with hemolytic anemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 611590
Orphanet 59 ORPHA93610
UMLS via Orphanet 74 C1969038
ICD10 via Orphanet 34 N25.8
MeSH 44 D000141

Summaries for Renal Tubular Acidosis, Distal, with Hemolytic Anemia

UniProtKB/Swiss-Prot : 75 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, with Hemolytic Anemia, also known as renal tubular acidosis, distal, with normal red cell morphology, is related to renal tubular acidosis, distal. An important gene associated with Renal Tubular Acidosis, Distal, with Hemolytic Anemia is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)). Affiliated tissues include kidney and bone, and related phenotypes are nephrocalcinosis and pallor

Description from OMIM: 611590

Related Diseases for Renal Tubular Acidosis, Distal, with Hemolytic Anemia

Diseases related to Renal Tubular Acidosis, Distal, with Hemolytic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal 11.0

Symptoms & Phenotypes for Renal Tubular Acidosis, Distal, with Hemolytic Anemia

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Skin Nails Hair Skin:
pallor

Genitourinary Kidneys:
nephrocalcinosis
renal tubular acidosis, distal
isothenuria

Abdomen Liver:
hepatosplenomegaly

Metabolic Features:
hyperchloremic metabolic acidosis

Growth Weight:
weight less than 3rd percentile

Hematology:
hemolytic anemia (in some patients)
microcytosis (in some patients)
reticulocytosis (in some patients)

Laboratory Abnormalities:
hypokalemia

Abdomen Gastrointestinal:
anorexia

Neurologic Central Nervous System:
lethargy

AbdomenSpleen:
hepatosplenomegaly

Growth Height:
height less than 3rd percentile

Skeletal:
rachitic bone changes


Clinical features from OMIM:

611590

Human phenotypes related to Renal Tubular Acidosis, Distal, with Hemolytic Anemia:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nephrocalcinosis 32 HP:0000121
2 pallor 32 HP:0000980
3 lethargy 32 HP:0001254
4 hepatosplenomegaly 32 HP:0001433
5 failure to thrive 32 HP:0001508
6 hemolytic anemia 32 occasional (7.5%) HP:0001878
7 reticulocytosis 32 occasional (7.5%) HP:0001923
8 metabolic acidosis 32 HP:0001942
9 anorexia 32 HP:0002039
10 rickets 32 HP:0002748
11 hypokalemia 32 HP:0002900
12 short stature 32 HP:0004322
13 hyperchloremic metabolic acidosis 32 HP:0004918
14 distal renal tubular acidosis 32 HP:0008341
15 decreased mean corpuscular volume 32 occasional (7.5%) HP:0025066
16 isothenuria 32 HP:0030036

Drugs & Therapeutics for Renal Tubular Acidosis, Distal, with Hemolytic Anemia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study Of Mircera In Patients With Kidney Disease Who Are Not On Dialysis Completed NCT02490514

Search NIH Clinical Center for Renal Tubular Acidosis, Distal, with Hemolytic Anemia

Genetic Tests for Renal Tubular Acidosis, Distal, with Hemolytic Anemia

Genetic tests related to Renal Tubular Acidosis, Distal, with Hemolytic Anemia:

# Genetic test Affiliating Genes
1 Renal Tubular Acidosis, Distal, with Hemolytic Anemia 29 SLC4A1

Anatomical Context for Renal Tubular Acidosis, Distal, with Hemolytic Anemia

MalaCards organs/tissues related to Renal Tubular Acidosis, Distal, with Hemolytic Anemia:

41
Kidney, Bone

Publications for Renal Tubular Acidosis, Distal, with Hemolytic Anemia

Variations for Renal Tubular Acidosis, Distal, with Hemolytic Anemia

UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Acidosis, Distal, with Hemolytic Anemia:

75
# Symbol AA change Variation ID SNP ID
1 SLC4A1 p.Gly701Asp VAR_015171 rs121912748
2 SLC4A1 p.Arg602Pro VAR_039292 rs121912754
3 SLC4A1 p.Ser773Pro VAR_039297 rs121912753

ClinVar genetic disease variations for Renal Tubular Acidosis, Distal, with Hemolytic Anemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC4A1 NM_000342.3(SLC4A1): c.2102G> A (p.Gly701Asp) single nucleotide variant Pathogenic rs121912748 GRCh37 Chromosome 17, 42330695: 42330695
2 SLC4A1 NM_000342.3(SLC4A1): c.2102G> A (p.Gly701Asp) single nucleotide variant Pathogenic rs121912748 GRCh38 Chromosome 17, 44253327: 44253327
3 SLC4A1 NM_000342.3(SLC4A1): c.2548_2550delGTG (p.Val850del) deletion Pathogenic rs121912752 GRCh37 Chromosome 17, 42328632: 42328634
4 SLC4A1 NM_000342.3(SLC4A1): c.2548_2550delGTG (p.Val850del) deletion Pathogenic rs121912752 GRCh38 Chromosome 17, 44251264: 44251266
5 SLC4A1 NM_000342.3(SLC4A1): c.1462G> A (p.Val488Met) single nucleotide variant Pathogenic rs28931584 GRCh37 Chromosome 17, 42334882: 42334882
6 SLC4A1 NM_000342.3(SLC4A1): c.1462G> A (p.Val488Met) single nucleotide variant Pathogenic rs28931584 GRCh38 Chromosome 17, 44257514: 44257514
7 SLC4A1 NM_000342.3(SLC4A1): c.2317T> C (p.Ser773Pro) single nucleotide variant Pathogenic rs121912753 GRCh37 Chromosome 17, 42328951: 42328951
8 SLC4A1 NM_000342.3(SLC4A1): c.2317T> C (p.Ser773Pro) single nucleotide variant Pathogenic rs121912753 GRCh38 Chromosome 17, 44251583: 44251583
9 SLC4A1 NM_000342.3(SLC4A1): c.1805G> C (p.Arg602Pro) single nucleotide variant Pathogenic rs121912754 GRCh37 Chromosome 17, 42332660: 42332660
10 SLC4A1 NM_000342.3(SLC4A1): c.1805G> C (p.Arg602Pro) single nucleotide variant Pathogenic rs121912754 GRCh38 Chromosome 17, 44255292: 44255292

Expression for Renal Tubular Acidosis, Distal, with Hemolytic Anemia

Search GEO for disease gene expression data for Renal Tubular Acidosis, Distal, with Hemolytic Anemia.

Pathways for Renal Tubular Acidosis, Distal, with Hemolytic Anemia

GO Terms for Renal Tubular Acidosis, Distal, with Hemolytic Anemia

Sources for Renal Tubular Acidosis, Distal, with Hemolytic Anemia

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74 UMLS via Orphanet
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