MCID: DYS127
MIFTS: 22

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 26
Gata-1-Related Thrombocytopenia with Dyserythropoiesis 26 30 6 41
Dyserythropoietic Anemia with Thrombocytopenia 26 6 74
Gata1-Related X-Linked Cytopenia 26
Macrothrombocytopenia, X-Linked 74
X-Linked Macrothrombocytopenia 26
Gata1-Related Cytopenia 26

Classifications:



External Ids:

Summaries for Dyserythropoietic Anemia and Thrombocytopenia

Genetics Home Reference : 26 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, and has symptoms including petechiae of skin 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. Affiliated tissues include skin, and 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 12.6
2 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 12.0
3 thrombocytopenia 10.1
4 thrombocytopenia 1 9.5 GATA1 ZFPM1

Symptoms & Phenotypes for Dyserythropoietic Anemia and Thrombocytopenia

UMLS symptoms related to Dyserythropoietic Anemia and Thrombocytopenia:


petechiae of skin

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

27
# 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 30 GATA1

Anatomical Context for Dyserythropoietic Anemia and Thrombocytopenia

MalaCards organs/tissues related to Dyserythropoietic Anemia and Thrombocytopenia:

42
Skin

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
2
Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. ( 11809723 )
2002
3
Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. ( 10700180 )
2000

Variations for Dyserythropoietic Anemia and Thrombocytopenia

ClinVar genetic disease variations for Dyserythropoietic Anemia and Thrombocytopenia:

6 (show all 50)
# 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.163G> A (p.Ala55Thr) single nucleotide variant Benign rs150572851 GRCh37 Chromosome X, 48649679: 48649679
10 GATA1 NM_002049.3(GATA1): c.163G> A (p.Ala55Thr) single nucleotide variant Benign rs150572851 GRCh38 Chromosome X, 48791272: 48791272
11 GATA1 NM_002049.3(GATA1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs587776451 GRCh37 Chromosome X, 48649518: 48649518
12 GATA1 NM_002049.3(GATA1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs587776451 GRCh38 Chromosome X, 48791111: 48791111
13 GATA1 NM_002049.3(GATA1): c.220G> C (p.Val74Leu) single nucleotide variant Pathogenic rs587776452 GRCh37 Chromosome X, 48649736: 48649736
14 GATA1 NM_002049.3(GATA1): c.220G> C (p.Val74Leu) single nucleotide variant Pathogenic rs587776452 GRCh38 Chromosome X, 48791329: 48791329
15 GATA1 NM_002049.3(GATA1): c.220+1delG deletion Pathogenic rs587776453 GRCh38 Chromosome X, 48791330: 48791330
16 GATA1 NM_002049.3(GATA1): c.220+1delG deletion Pathogenic rs587776453 GRCh37 Chromosome X, 48649737: 48649737
17 GATA1 NM_002049.3(GATA1): c.622G> C (p.Gly208Arg) single nucleotide variant Pathogenic rs587776454 GRCh37 Chromosome X, 48650753: 48650753
18 GATA1 NM_002049.3(GATA1): c.622G> C (p.Gly208Arg) single nucleotide variant Pathogenic rs587776454 GRCh38 Chromosome X, 48792346: 48792346
19 GATA1 NM_002049.3(GATA1): c.994G> T (p.Gly332Cys) single nucleotide variant Pathogenic rs587776455 GRCh38 Chromosome X, 48793916: 48793916
20 GATA1 NM_002049.3(GATA1): c.994G> T (p.Gly332Cys) single nucleotide variant Pathogenic rs587776455 GRCh37 Chromosome X, 48652323: 48652323
21 GATA1 NM_002049.3(GATA1): c.1240T> C (p.Ter414Arg) single nucleotide variant Pathogenic rs587776456 GRCh37 Chromosome X, 48652569: 48652569
22 GATA1 NM_002049.3(GATA1): c.1240T> C (p.Ter414Arg) single nucleotide variant Pathogenic rs587776456 GRCh38 Chromosome X, 48794162: 48794162
23 GATA1 NM_002049.3(GATA1): c.479A> G (p.Asn160Ser) single nucleotide variant Uncertain significance rs59609788 GRCh37 Chromosome X, 48650509: 48650509
24 GATA1 NM_002049.3(GATA1): c.479A> G (p.Asn160Ser) single nucleotide variant Uncertain significance rs59609788 GRCh38 Chromosome X, 48792102: 48792102
25 GATA1 NM_002049.3(GATA1): c.892C> T (p.Arg298Trp) single nucleotide variant Uncertain significance rs1060501251 GRCh37 Chromosome X, 48652221: 48652221
26 GATA1 NM_002049.3(GATA1): c.892C> T (p.Arg298Trp) single nucleotide variant Uncertain significance rs1060501251 GRCh38 Chromosome X, 48793814: 48793814
27 GATA1 NM_002049.3(GATA1): c.113C> T (p.Pro38Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs372131208 GRCh38 Chromosome X, 48791222: 48791222
28 GATA1 NM_002049.3(GATA1): c.113C> T (p.Pro38Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs372131208 GRCh37 Chromosome X, 48649629: 48649629
29 GATA1 NM_002049.3(GATA1): c.89C> G (p.Ser30Ter) single nucleotide variant Pathogenic rs1557020021 GRCh38 Chromosome X, 48791198: 48791198
30 GATA1 NM_002049.3(GATA1): c.89C> G (p.Ser30Ter) single nucleotide variant Pathogenic rs1557020021 GRCh37 Chromosome X, 48649605: 48649605
31 GATA1 NM_002049.3(GATA1): c.94G> A (p.Val32Ile) single nucleotide variant Uncertain significance rs782698349 GRCh37 Chromosome X, 48649610: 48649610
32 GATA1 NM_002049.3(GATA1): c.94G> A (p.Val32Ile) single nucleotide variant Uncertain significance rs782698349 GRCh38 Chromosome X, 48791203: 48791203
33 GATA1 NM_002049.3(GATA1): c.21delG (p.Ser8Profs) deletion Pathogenic rs1557020001 GRCh38 Chromosome X, 48791130: 48791130
34 GATA1 NM_002049.3(GATA1): c.21delG (p.Ser8Profs) deletion Pathogenic rs1557020001 GRCh37 Chromosome X, 48649537: 48649537
35 GATA1 NM_002049.3(GATA1): c.212A> G (p.His71Arg) single nucleotide variant Benign rs374300356 GRCh38 Chromosome X, 48791321: 48791321
36 GATA1 NM_002049.3(GATA1): c.212A> G (p.His71Arg) single nucleotide variant Benign rs374300356 GRCh37 Chromosome X, 48649728: 48649728
37 GATA1 NM_002049.3(GATA1): c.242T> C (p.Leu81Pro) single nucleotide variant Uncertain significance rs1557020166 GRCh38 Chromosome X, 48791865: 48791865
38 GATA1 NM_002049.3(GATA1): c.242T> C (p.Leu81Pro) single nucleotide variant Uncertain significance rs1557020166 GRCh37 Chromosome X, 48650272: 48650272
39 GATA1 NM_002049.3(GATA1): c.419G> A (p.Arg140Gln) single nucleotide variant Uncertain significance rs997764249 GRCh38 Chromosome X, 48792042: 48792042
40 GATA1 NM_002049.3(GATA1): c.419G> A (p.Arg140Gln) single nucleotide variant Uncertain significance rs997764249 GRCh37 Chromosome X, 48650449: 48650449
41 GATA1 NM_002049.3(GATA1): c.64G> A (p.Ala22Thr) single nucleotide variant Benign rs782188059 GRCh37 Chromosome X, 48649580: 48649580
42 GATA1 NM_002049.3(GATA1): c.64G> A (p.Ala22Thr) single nucleotide variant Benign rs782188059 GRCh38 Chromosome X, 48791173: 48791173
43 GATA1 NM_002049.3(GATA1): c.480T> G (p.Asn160Lys) single nucleotide variant Uncertain significance rs143332634 GRCh38 Chromosome X, 48792103: 48792103
44 GATA1 NM_002049.3(GATA1): c.480T> G (p.Asn160Lys) single nucleotide variant Uncertain significance rs143332634 GRCh37 Chromosome X, 48650510: 48650510
45 GATA1 NM_002049.3(GATA1): c.529G> A (p.Gly177Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 48792152: 48792152
46 GATA1 NM_002049.3(GATA1): c.529G> A (p.Gly177Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 48650559: 48650559
47 GATA1 NM_002049.3(GATA1): c.94dup (p.Val32Glyfs) duplication Pathogenic GRCh37 Chromosome X, 48649610: 48649610
48 GATA1 NM_002049.3(GATA1): c.94dup (p.Val32Glyfs) duplication Pathogenic GRCh38 Chromosome X, 48791203: 48791203
49 GATA1 NM_002049.3(GATA1): c.220+1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 48791330: 48791330
50 GATA1 NM_002049.3(GATA1): c.220+1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 48649737: 48649737

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 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 heart development GO:0007507 9.16 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 8.96 GATA1 ZFPM1
2 RNA polymerase II transcription factor binding GO:0001085 8.62 GATA1 ZFPM1

Sources for Dyserythropoietic Anemia and Thrombocytopenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....