MCID: DYS127
MIFTS: 20

Dyserythropoietic Anemia and Thrombocytopenia

Categories: Blood diseases

Aliases & Classifications for Dyserythropoietic Anemia and Thrombocytopenia

MalaCards integrated aliases for Dyserythropoietic Anemia and Thrombocytopenia:

Name: Dyserythropoietic Anemia and Thrombocytopenia 24
Gata-1-Related Thrombocytopenia with Dyserythropoiesis 24 28
Dyserythropoietic Anemia with Thrombocytopenia 24 69
Gata1-Related X-Linked Cytopenia 24
Macrothrombocytopenia, X-Linked 69
X-Linked Macrothrombocytopenia 24
Gata1-Related Cytopenia 24

Classifications:



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Summaries for Dyserythropoietic Anemia and Thrombocytopenia

Genetics Home Reference : 24 Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells. The term "dyserythropoietic" refers to the abnormal red blood cell formation that occurs in this condition. In affected individuals, immature red blood cells are unusually shaped and cannot develop into functional mature cells, leading to a shortage of healthy red blood cells. People with dyserythropoietic anemia and thrombocytopenia can have another blood disorder characterized by a reduced level of circulating platelets (thrombocytopenia). Platelets are cell fragments that normally assist with blood clotting. Thrombocytopenia can cause easy bruising and abnormal bleeding. While people with dyserythropoietic anemia and thrombocytopenia can have signs and symptoms of both blood disorders, some are primarily affected by anemia, while others are more affected by thrombocytopenia.

MalaCards based summary : Dyserythropoietic Anemia and Thrombocytopenia, also known as gata-1-related thrombocytopenia with dyserythropoiesis, is related to gata1-related x-linked cytopenia and thrombocytopenia, x-linked, with or without dyserythropoietic anemia. An important gene associated with Dyserythropoietic Anemia and Thrombocytopenia is GATA1 (GATA Binding Protein 1), and among its related pathways/superpathways are Factors involved in megakaryocyte development and platelet production and C-MYB transcription factor network. Related phenotype is Decreased viability.

Related Diseases for Dyserythropoietic Anemia and Thrombocytopenia

Diseases related to Dyserythropoietic Anemia and Thrombocytopenia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gata1-related x-linked cytopenia 12.5
2 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 11.8
3 thrombocytopenia 9.9
4 thrombocytopenia 1 9.4 GATA1 ZFPM1

Symptoms & Phenotypes for Dyserythropoietic Anemia and Thrombocytopenia

GenomeRNAi Phenotypes related to Dyserythropoietic Anemia and Thrombocytopenia according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 8.62 GATA1 ZFPM1

Drugs & Therapeutics for Dyserythropoietic Anemia and Thrombocytopenia

Search Clinical Trials , NIH Clinical Center for Dyserythropoietic Anemia and Thrombocytopenia

Genetic Tests for Dyserythropoietic Anemia and Thrombocytopenia

Genetic tests related to Dyserythropoietic Anemia and Thrombocytopenia:

# Genetic test Affiliating Genes
1 Gata-1-Related Thrombocytopenia with Dyserythropoiesis 28 GATA1

Anatomical Context for Dyserythropoietic Anemia and Thrombocytopenia

Publications for Dyserythropoietic Anemia and Thrombocytopenia

Articles related to Dyserythropoietic Anemia and Thrombocytopenia:

# Title Authors Year
1
Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1. ( 16103636 )
2005

Variations for Dyserythropoietic Anemia and Thrombocytopenia

ClinVar genetic disease variations for Dyserythropoietic Anemia and Thrombocytopenia:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 GATA1 NM_002049.3(GATA1): c.613G> A (p.Val205Met) single nucleotide variant Pathogenic rs104894815 GRCh37 Chromosome X, 48650744: 48650744
2 GATA1 NM_002049.3(GATA1): c.653A> G (p.Asp218Gly) single nucleotide variant Pathogenic rs104894816 GRCh37 Chromosome X, 48650784: 48650784
3 GATA1 NM_002049.3(GATA1): c.622_623delGGinsTC (p.Gly208Ser) indel Pathogenic rs137852312 GRCh37 Chromosome X, 48650753: 48650754
4 GATA1 NM_002049.3(GATA1): c.652G> T (p.Asp218Tyr) single nucleotide variant Pathogenic rs104894808 GRCh37 Chromosome X, 48650783: 48650783
5 GATA1 NM_002049.3(GATA1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs587776451 GRCh37 Chromosome X, 48649518: 48649518
6 GATA1 NM_002049.3(GATA1): c.220G> C (p.Val74Leu) single nucleotide variant Pathogenic rs587776452 GRCh37 Chromosome X, 48649736: 48649736
7 GATA1 NM_002049.3(GATA1): c.220+1delG deletion Pathogenic rs587776453 GRCh38 Chromosome X, 48791330: 48791330
8 GATA1 NM_002049.3(GATA1): c.622G> C (p.Gly208Arg) single nucleotide variant Pathogenic rs587776454 GRCh37 Chromosome X, 48650753: 48650753
9 GATA1 NM_002049.3(GATA1): c.994G> T (p.Gly332Cys) single nucleotide variant Pathogenic rs587776455 GRCh38 Chromosome X, 48793916: 48793916
10 GATA1 NM_002049.3(GATA1): c.1240T> C (p.Ter414Arg) single nucleotide variant Pathogenic rs587776456 GRCh37 Chromosome X, 48652569: 48652569
11 GATA1 NM_002049.3(GATA1): c.89C> G (p.Ser30Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 48791198: 48791198
12 GATA1 NM_002049.3(GATA1): c.21delG (p.Ser8Profs) deletion Pathogenic GRCh38 Chromosome X, 48791130: 48791130

Expression for Dyserythropoietic Anemia and Thrombocytopenia

Search GEO for disease gene expression data for Dyserythropoietic Anemia and Thrombocytopenia.

Pathways for Dyserythropoietic Anemia and Thrombocytopenia

Pathways related to Dyserythropoietic Anemia and Thrombocytopenia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.35 GATA1 ZFPM1
2 10.85 GATA1 ZFPM1
3 10.44 GATA1 ZFPM1

GO Terms for Dyserythropoietic Anemia and Thrombocytopenia

Cellular components related to Dyserythropoietic Anemia and Thrombocytopenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.96 GATA1 ZFPM1
2 transcriptional repressor complex GO:0017053 8.62 GATA1 ZFPM1

Biological processes related to Dyserythropoietic Anemia and Thrombocytopenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.46 GATA1 ZFPM1
2 blood coagulation GO:0007596 9.43 GATA1 ZFPM1
3 regulation of megakaryocyte differentiation GO:0045652 9.4 GATA1 ZFPM1
4 erythrocyte differentiation GO:0030218 9.37 GATA1 ZFPM1
5 platelet formation GO:0030220 9.32 GATA1 ZFPM1
6 embryonic hemopoiesis GO:0035162 9.26 GATA1 ZFPM1
7 megakaryocyte differentiation GO:0030219 9.16 GATA1 ZFPM1
8 regulation of definitive erythrocyte differentiation GO:0010724 8.96 GATA1 ZFPM1
9 transcriptional activation by promoter-enhancer looping GO:0071733 8.62 GATA1 ZFPM1

Molecular functions related to Dyserythropoietic Anemia and Thrombocytopenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.26 GATA1 ZFPM1
2 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001078 9.16 GATA1 ZFPM1
3 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 8.96 GATA1 ZFPM1
4 RNA polymerase II transcription factor binding GO:0001085 8.62 GATA1 ZFPM1

Sources for Dyserythropoietic Anemia and Thrombocytopenia

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10 dbSNP
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16 ExPASy
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65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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