Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Nephrological diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the genitourinary system

Other disorders of kidney and ureter

Disorders resulting from impaired renal tubular function

Other disorders resulting from impaired renal tubular function

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

MedGen ⁴¹ C1969038 C1969039

SNOMED-CT via HPO ⁶⁸ 166690008 214264003 236461000 more

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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

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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

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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

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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

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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

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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

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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	Sritippayawan S...Yenchitsomanus PT	15211439	2004
2	Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population. ⁶ ⁵⁷	Yenchitsomanus PT...Promwong C	12938018	2003
3	Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene. ⁶ ⁵⁷	Yenchitsomanus PT...Nimmannit S	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	Bruce LJ...Tanner MJ	10926824	2000
5	Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. ⁵⁷ ⁶	Tanphaichitr VS...Alper SL	9854053	1998
6	Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. ⁶	Ribeiro ML...Tamagnini G	10942416	2000
7	Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. ⁶	Alloisio N...Delaunay J	9207478	1997

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

Genes related to Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SLC4A1	Solute Carrier Family 4 Member 1 (Diego Blood Group)	Protein Coding	1650	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹	9207478 10942416 15211439 (more) 10926824 9854053 12087557 12938018
2	WDR72	WD Repeat Domain 72	Protein Coding	400	Pathogenic ⁶

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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

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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.

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

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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

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

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⁶⁷ SNOMED-CT

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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

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

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

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

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

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

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:

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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

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

Interventional clinical trials:

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

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

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

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

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

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

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

Genes related to Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia (2 elite genes):

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

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

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

Expression 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:

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