DRTA4
MCID: RNL128
MIFTS: 30

Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia (DRTA4)

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

Aliases & Classifications for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia

MalaCards integrated aliases for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia:

Name: Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia 57
Renal Tubular Acidosis, Distal, with Hemolytic Anemia 73 29 6
Renal Tubular Acidosis, Distal, with Normal Red Cell Morphology 73 6
Distal Renal Tubular Acidosis 4 with Hemolytic Anemia 57
Autosomal Recessive Distal Rta with Hemolytic Anemia 73
Distal Renal Tubular Acidosis with Anemia 58
Drta with Anemia 58
Drta-Nrc 73
Drta-Ha 73
Drta4 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;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
renal tubular acidosis, distal, 4, with hemolytic anemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare haematological diseases


External Ids:

OMIM® 57 611590
OMIM Phenotypic Series 57 PS179800
MeSH 44 D000141
ICD10 via Orphanet 33 N25.8
UMLS via Orphanet 72 C1969038
Orphanet 58 ORPHA93610

Summaries for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia

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

More information from OMIM: 611590 PS179800

Related Diseases for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia

Diseases in the Distal Renal Tubular Acidosis with Hemolytic Anemia family:

Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia

Diseases related to Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 distal renal tubular acidosis with hemolytic anemia 11.7
2 hereditary distal renal tubular acidosis 9.6 WDR72 SLC4A1
3 renal tubular acidosis 9.5 WDR72 SLC4A1

Symptoms & Phenotypes for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia

Human phenotypes related to Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 31 occasional (7.5%) HP:0001878
2 reticulocytosis 31 occasional (7.5%) HP:0001923
3 decreased mean corpuscular volume 31 occasional (7.5%) HP:0025066
4 failure to thrive 31 HP:0001508
5 short stature 31 HP:0004322
6 hypokalemia 31 HP:0002900
7 rickets 31 HP:0002748
8 pallor 31 HP:0000980
9 anorexia 31 HP:0002039
10 nephrocalcinosis 31 HP:0000121
11 lethargy 31 HP:0001254
12 hepatosplenomegaly 31 HP:0001433
13 distal renal tubular acidosis 31 HP:0008341
14 hyperchloremic metabolic acidosis 31 HP:0004918
15 isothenuria 31 HP:0030036

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Skin Nails Hair Skin:
pallor

Genitourinary Kidneys:
nephrocalcinosis
isothenuria
renal tubular acidosis, distal

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

Abdomen Spleen:
hepatosplenomegaly

Growth Height:
height less than 3rd percentile

Skeletal:
rachitic bone changes

Clinical features from OMIM®:

611590 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.62 SLC4A1 WDR72

Drugs & Therapeutics for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mircera In Patients With CKD Stages III-IV Not On Dialysis: Observational, Non-interventional Cohort Study Completed NCT02490514

Search NIH Clinical Center for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia

Genetic Tests for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia

Genetic tests related to Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia:

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

Anatomical Context for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia

MalaCards organs/tissues related to Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia:

40
Kidney, Bone

Publications for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia

Articles related to Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia:

# Title Authors PMID Year
1
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. 6 57
15211439 2004
2
Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population. 6 57
12938018 2003
3
Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene. 6 57
12087557 2002
4
Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells. 6 57
10926824 2000
5
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. 57 6
9854053 1998
6
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. 6
10942416 2000
7
Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. 6
9207478 1997

Variations for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia

ClinVar genetic disease variations for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC4A1 NM_000342.4(SLC4A1):c.2317T>C (p.Ser773Pro) SNV Pathogenic 17778 rs121912753 17:42328951-42328951 17:44251583-44251583
2 SLC4A1 NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp) SNV Pathogenic 17767 rs121912748 17:42330695-42330695 17:44253327-44253327
3 SLC4A1 NM_000342.4(SLC4A1):c.2545_2547GTG[1] (p.Val850del) Microsatellite Pathogenic 17772 rs121912752 17:42328632-42328634 17:44251264-44251266
4 SLC4A1 NM_000342.4(SLC4A1):c.1805G>C (p.Arg602Pro) SNV Pathogenic 17779 rs121912754 17:42332660-42332660 17:44255292-44255292
5 WDR72 NM_182758.4(WDR72):c.1777A>G (p.Arg593Gly) SNV Pathogenic 522608 rs1376457227 15:53957954-53957954 15:53665757-53665757
6 WDR72 NM_182758.4(WDR72):c.2522T>A (p.Leu841Gln) SNV Pathogenic 522609 rs768446132 15:53907881-53907881 15:53615684-53615684
7 WDR72 NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter) SNV Pathogenic 522610 rs557128345 15:53907717-53907717 15:53615520-53615520
8 SLC4A1 NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) SNV Pathogenic 17773 rs28931584 17:42334882-42334882 17:44257514-44257514
9 SLC4A1 NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) SNV Pathogenic 17764 rs121912745 17:42333076-42333076 17:44255708-44255708
10 SLC4A1 NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) SNV Uncertain significance 17771 rs121912751 17:42328609-42328609 17:44251241-44251241
11 SLC4A1 NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) SNV not provided 255914 rs147390654 17:42337247-42337247 17:44259879-44259879

UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia:

73
# Symbol AA change Variation ID SNP ID
1 SLC4A1 p.Gly701Asp VAR_015171 rs121912748
2 SLC4A1 p.Arg602His VAR_039292 rs121912754
3 SLC4A1 p.Ser773Pro VAR_039297 rs121912753

Expression for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia

Search GEO for disease gene expression data for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia.

Pathways for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia

GO Terms for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia

Biological processes related to Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein localization to plasma membrane GO:0072659 8.62 WDR72 SLC4A1

Sources for Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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