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 25
Gata-1-Related Thrombocytopenia with Dyserythropoiesis 25 29 6 40
Dyserythropoietic Anemia with Thrombocytopenia 25 6 73
Gata1-Related X-Linked Cytopenia 25
Macrothrombocytopenia, X-Linked 73
X-Linked Macrothrombocytopenia 25
Gata1-Related Cytopenia 25

Classifications:



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Summaries for Dyserythropoietic Anemia and Thrombocytopenia

Genetics Home Reference : 25 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 phenotypes are Decreased viability and 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 9.0 GATA1 ZFPM1

Symptoms & Phenotypes for Dyserythropoietic Anemia and Thrombocytopenia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 8.92 GATA1 ZFPM1
2 Decreased viability GR00402-S-2 8.92 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 29 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 42)
# 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.613G> A (p.Val205Met) single nucleotide variant Pathogenic rs104894815 GRCh38 Chromosome X, 48792337: 48792337
3 GATA1 NM_002049.3(GATA1): c.653A> G (p.Asp218Gly) single nucleotide variant Pathogenic rs104894816 GRCh37 Chromosome X, 48650784: 48650784
4 GATA1 NM_002049.3(GATA1): c.653A> G (p.Asp218Gly) single nucleotide variant Pathogenic rs104894816 GRCh38 Chromosome X, 48792377: 48792377
5 GATA1 NM_002049.3(GATA1): c.622_623delGGinsTC (p.Gly208Ser) indel Pathogenic rs137852312 GRCh37 Chromosome X, 48650753: 48650754
6 GATA1 NM_002049.3(GATA1): c.622_623delGGinsTC (p.Gly208Ser) indel Pathogenic rs137852312 GRCh38 Chromosome X, 48792346: 48792347
7 GATA1 NM_002049.3(GATA1): c.652G> T (p.Asp218Tyr) single nucleotide variant Pathogenic rs104894808 GRCh37 Chromosome X, 48650783: 48650783
8 GATA1 NM_002049.3(GATA1): c.652G> T (p.Asp218Tyr) single nucleotide variant Pathogenic rs104894808 GRCh38 Chromosome X, 48792376: 48792376
9 GATA1 NM_002049.3(GATA1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs587776451 GRCh37 Chromosome X, 48649518: 48649518
10 GATA1 NM_002049.3(GATA1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs587776451 GRCh38 Chromosome X, 48791111: 48791111
11 GATA1 NM_002049.3(GATA1): c.220G> C (p.Val74Leu) single nucleotide variant Pathogenic rs587776452 GRCh37 Chromosome X, 48649736: 48649736
12 GATA1 NM_002049.3(GATA1): c.220G> C (p.Val74Leu) single nucleotide variant Pathogenic rs587776452 GRCh38 Chromosome X, 48791329: 48791329
13 GATA1 NM_002049.3(GATA1): c.220+1delG deletion Pathogenic rs587776453 GRCh38 Chromosome X, 48791330: 48791330
14 GATA1 NM_002049.3(GATA1): c.220+1delG deletion Pathogenic rs587776453 GRCh37 Chromosome X, 48649737: 48649737
15 GATA1 NM_002049.3(GATA1): c.622G> C (p.Gly208Arg) single nucleotide variant Pathogenic rs587776454 GRCh37 Chromosome X, 48650753: 48650753
16 GATA1 NM_002049.3(GATA1): c.622G> C (p.Gly208Arg) single nucleotide variant Pathogenic rs587776454 GRCh38 Chromosome X, 48792346: 48792346
17 GATA1 NM_002049.3(GATA1): c.994G> T (p.Gly332Cys) single nucleotide variant Pathogenic rs587776455 GRCh38 Chromosome X, 48793916: 48793916
18 GATA1 NM_002049.3(GATA1): c.994G> T (p.Gly332Cys) single nucleotide variant Pathogenic rs587776455 GRCh37 Chromosome X, 48652323: 48652323
19 GATA1 NM_002049.3(GATA1): c.1240T> C (p.Ter414Arg) single nucleotide variant Pathogenic rs587776456 GRCh37 Chromosome X, 48652569: 48652569
20 GATA1 NM_002049.3(GATA1): c.1240T> C (p.Ter414Arg) single nucleotide variant Pathogenic rs587776456 GRCh38 Chromosome X, 48794162: 48794162
21 GATA1 NM_002049.3(GATA1): c.479A> G (p.Asn160Ser) single nucleotide variant Uncertain significance rs59609788 GRCh37 Chromosome X, 48650509: 48650509
22 GATA1 NM_002049.3(GATA1): c.479A> G (p.Asn160Ser) single nucleotide variant Uncertain significance rs59609788 GRCh38 Chromosome X, 48792102: 48792102
23 GATA1 NM_002049.3(GATA1): c.892C> T (p.Arg298Trp) single nucleotide variant Uncertain significance rs1060501251 GRCh37 Chromosome X, 48652221: 48652221
24 GATA1 NM_002049.3(GATA1): c.892C> T (p.Arg298Trp) single nucleotide variant Uncertain significance rs1060501251 GRCh38 Chromosome X, 48793814: 48793814
25 GATA1 NM_002049.3(GATA1): c.113C> T (p.Pro38Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs372131208 GRCh38 Chromosome X, 48791222: 48791222
26 GATA1 NM_002049.3(GATA1): c.113C> T (p.Pro38Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs372131208 GRCh37 Chromosome X, 48649629: 48649629
27 GATA1 NM_002049.3(GATA1): c.89C> G (p.Ser30Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 48791198: 48791198
28 GATA1 NM_002049.3(GATA1): c.89C> G (p.Ser30Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 48649605: 48649605
29 GATA1 NM_002049.3(GATA1): c.94G> A (p.Val32Ile) single nucleotide variant Uncertain significance rs782698349 GRCh38 Chromosome X, 48791203: 48791203
30 GATA1 NM_002049.3(GATA1): c.94G> A (p.Val32Ile) single nucleotide variant Uncertain significance rs782698349 GRCh37 Chromosome X, 48649610: 48649610
31 GATA1 NM_002049.3(GATA1): c.21delG (p.Ser8Profs) deletion Pathogenic GRCh38 Chromosome X, 48791130: 48791130
32 GATA1 NM_002049.3(GATA1): c.21delG (p.Ser8Profs) deletion Pathogenic GRCh37 Chromosome X, 48649537: 48649537
33 GATA1 NM_002049.3(GATA1): c.212A> G (p.His71Arg) single nucleotide variant Benign rs374300356 GRCh38 Chromosome X, 48791321: 48791321
34 GATA1 NM_002049.3(GATA1): c.212A> G (p.His71Arg) single nucleotide variant Benign rs374300356 GRCh37 Chromosome X, 48649728: 48649728
35 GATA1 NM_002049.3(GATA1): c.242T> C (p.Leu81Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 48791865: 48791865
36 GATA1 NM_002049.3(GATA1): c.242T> C (p.Leu81Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 48650272: 48650272
37 GATA1 NM_002049.3(GATA1): c.419G> A (p.Arg140Gln) single nucleotide variant Uncertain significance rs997764249 GRCh38 Chromosome X, 48792042: 48792042
38 GATA1 NM_002049.3(GATA1): c.419G> A (p.Arg140Gln) single nucleotide variant Uncertain significance rs997764249 GRCh37 Chromosome X, 48650449: 48650449
39 GATA1 NM_002049.3(GATA1): c.64G> A (p.Ala22Thr) single nucleotide variant Benign rs782188059 GRCh37 Chromosome X, 48649580: 48649580
40 GATA1 NM_002049.3(GATA1): c.64G> A (p.Ala22Thr) single nucleotide variant Benign rs782188059 GRCh38 Chromosome X, 48791173: 48791173
41 GATA1 NM_002049.3(GATA1): c.480T> G (p.Asn160Lys) single nucleotide variant Uncertain significance rs143332634 GRCh38 Chromosome X, 48792103: 48792103
42 GATA1 NM_002049.3(GATA1): c.480T> G (p.Asn160Lys) single nucleotide variant Uncertain significance rs143332634 GRCh37 Chromosome X, 48650510: 48650510

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 9.48 GATA1 ZFPM1
2 heart development GO:0007507 9.46 GATA1 ZFPM1
3 blood coagulation GO:0007596 9.43 GATA1 ZFPM1
4 regulation of megakaryocyte differentiation GO:0045652 9.4 GATA1 ZFPM1
5 erythrocyte differentiation GO:0030218 9.37 GATA1 ZFPM1
6 platelet formation GO:0030220 9.32 GATA1 ZFPM1
7 embryonic hemopoiesis GO:0035162 9.26 GATA1 ZFPM1
8 megakaryocyte differentiation GO:0030219 9.16 GATA1 ZFPM1
9 regulation of definitive erythrocyte differentiation GO:0010724 8.96 GATA1 ZFPM1
10 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 9.16 GATA1 ZFPM1
2 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001078 8.96 GATA1 ZFPM1
3 RNA polymerase II transcription factor binding GO:0001085 8.62 GATA1 ZFPM1

Sources for Dyserythropoietic Anemia and Thrombocytopenia

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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