MCID: DYS127
MIFTS: 27

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 43
Gata-1-Related Thrombocytopenia with Dyserythropoiesis 43 29 6 39
Dyserythropoietic Anemia with Thrombocytopenia 43 6 70
Gata1-Related X-Linked Cytopenia 43
Macrothrombocytopenia, X-Linked 70
X-Linked Macrothrombocytopenia 43
Gata1-Related Cytopenia 43

Classifications:



External Ids:

UMLS 70 C1845837 C1845838

Summaries for Dyserythropoietic Anemia and Thrombocytopenia

MedlinePlus Genetics : 43 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 cells 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.The most severe cases of dyserythropoietic anemia and thrombocytopenia are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. For many others, the signs and symptoms of dyserythropoietic anemia and thrombocytopenia begin in infancy. People with this condition experience prolonged bleeding or bruising after minor trauma or even in the absence of injury (spontaneous bleeding). Anemia can cause pale skin, weakness, and fatigue. Severe anemia may create a need for frequent blood transfusions to replenish the supply of red blood cells; however, repeated blood transfusions over many years can cause health problems such as excess iron in the blood. People with dyserythropoietic anemia and thrombocytopenia may also have a shortage of white blood cells (neutropenia), which can make them prone to recurrent infections. Additionally, they may have an enlarged spleen (splenomegaly). The severity of these abnormalities varies among affected individuals.Some people with dyserythropoietic anemia and thrombocytopenia have additional blood disorders such as beta thalassemia or congenital erythropoietic porphyria. Beta thalassemia is a condition that reduces the production of hemoglobin, which is the iron-containing protein in red blood cells that carries oxygen. A decrease in hemoglobin can lead to a shortage of oxygen in cells and tissues throughout the body. Congenital erythropoietic porphyria is another disorder that impairs hemoglobin production. People with congenital erythropoietic porphyria are also very sensitive to sunlight, and areas of skin exposed to the sun can become fragile and blistered.

MalaCards based summary : Dyserythropoietic Anemia and Thrombocytopenia, also known as gata-1-related thrombocytopenia with dyserythropoiesis, is related to thrombocytopenia and thrombocytopenia with beta-thalassemia, x-linked, 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 spleen, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Dyserythropoietic Anemia and Thrombocytopenia

Graphical network of the top 20 diseases related to Dyserythropoietic Anemia and Thrombocytopenia:



Diseases related to Dyserythropoietic Anemia and Thrombocytopenia

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 8.8 GATA1 ZFPM1
2 Decreased viability GR00249-S 8.8 GATA1

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

MalaCards organs/tissues related to Dyserythropoietic Anemia and Thrombocytopenia:

40
Spleen

Publications for Dyserythropoietic Anemia and Thrombocytopenia

Articles related to Dyserythropoietic Anemia and Thrombocytopenia:

(show all 21)
# Title Authors PMID Year
1
Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1. 6 61
16103636 2005
2
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. 6
24453067 2014
3
PML4 facilitates erythroid differentiation by enhancing the transcriptional activity of GATA-1. 6
24255919 2014
4
Analysis of disease-causing GATA1 mutations in murine gene complementation systems. 6
23704091 2013
5
A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia. 6
23278136 2013
6
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. 6
22706301 2012
7
Congenital transfusion-dependent anemia and thrombocytopenia with myelodysplasia due to a recurrent GATA1(G208R) germline mutation. 6
17713552 2008
8
Platelet pathology in carriers of the X-linked GATA-1 macrothrombocytopenia. 6
18041654 2007
9
Platelet pathology in sex-linked GATA-1 dyserythropoietic macrothrombocytopenia II. Cytochemistry. 6
17763153 2007
10
An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. 6
16783379 2006
11
GATA-1: one protein, many partners. 6
16095949 2006
12
GATA-1 forms distinct activating and repressive complexes in erythroid cells. 6
15920471 2005
13
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. 6
11809723 2002
14
X-linked thrombocytopenia caused by a novel mutation of GATA-1. 6
11675338 2001
15
In vivo requirements for GATA-1 functional domains during primitive and definitive erythropoiesis. 6
11566888 2001
16
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. 6
11418466 2001
17
Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. 6
10700180 2000
18
A palindromic regulatory site within vertebrate GATA-1 promoters requires both zinc fingers of the GATA-1 DNA-binding domain for high-affinity interaction. 6
8628290 1996
19
CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia. 61
31572203 2019
20
Differential requirements for the activation domain and FOG-interaction surface of GATA-1 in megakaryocyte gene expression and development. 61
15860665 2005
21
GATA transcription factors in hematologic disease. 61
16158817 2005

Variations for Dyserythropoietic Anemia and Thrombocytopenia

ClinVar genetic disease variations for Dyserythropoietic Anemia and Thrombocytopenia:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA1 NM_002049.3(GATA1):c.2T>C (p.Met1Thr) SNV Pathogenic 156265 rs587776451 GRCh37: X:48649518-48649518
GRCh38: X:48791111-48791111
2 GATA1 NM_002049.4(GATA1):c.220+1del Deletion Pathogenic 31942 rs587776453 GRCh37: X:48649736-48649736
GRCh38: X:48791329-48791329
3 GATA1 NM_002049.3(GATA1):c.1240T>C (p.Ter414Arg) SNV Pathogenic 156270 rs587776456 GRCh37: X:48652569-48652569
GRCh38: X:48794162-48794162
4 GATA1 NM_002049.3(GATA1):c.21del (p.Ser8fs) Deletion Pathogenic 465133 rs1557020001 GRCh37: X:48649534-48649534
GRCh38: X:48791127-48791127
5 GATA1 NM_002049.3(GATA1):c.94dup (p.Val32fs) Duplication Pathogenic 566070 rs1569499310 GRCh37: X:48649606-48649607
GRCh38: X:48791199-48791200
6 GATA1 NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) SNV Pathogenic 465134 rs1557020021 GRCh37: X:48649605-48649605
GRCh38: X:48791198-48791198
7 GATA1 NM_002049.3(GATA1):c.613G>A (p.Val205Met) SNV Pathogenic 10423 rs104894815 GRCh37: X:48650744-48650744
GRCh38: X:48792337-48792337
8 GATA1 NM_002049.3(GATA1):c.652G>T (p.Asp218Tyr) SNV Pathogenic 10427 rs104894808 GRCh37: X:48650783-48650783
GRCh38: X:48792376-48792376
9 GATA1 NM_002049.3(GATA1):c.220G>C (p.Val74Leu) SNV Pathogenic 156266 rs587776452 GRCh37: X:48649736-48649736
GRCh38: X:48791329-48791329
10 GATA1 NM_002049.3(GATA1):c.613G>A (p.Val205Met) SNV Pathogenic 10423 rs104894815 GRCh37: X:48650744-48650744
GRCh38: X:48792337-48792337
11 GATA1 NM_002049.3(GATA1):c.622_623delinsTC (p.Gly208Ser) Indel Pathogenic 10425 rs137852312 GRCh37: X:48650753-48650754
GRCh38: X:48792346-48792347
12 GATA1 NM_002049.3(GATA1):c.622G>C (p.Gly208Arg) SNV Pathogenic 156268 rs587776454 GRCh37: X:48650753-48650753
GRCh38: X:48792346-48792346
13 GATA1 NM_002049.3(GATA1):c.653A>G (p.Asp218Gly) SNV Pathogenic 10424 rs104894816 GRCh37: X:48650784-48650784
GRCh38: X:48792377-48792377
14 GATA1 NM_002049.3(GATA1):c.652G>T (p.Asp218Tyr) SNV Pathogenic 10427 rs104894808 GRCh37: X:48650783-48650783
GRCh38: X:48792376-48792376
15 GATA1 NM_002049.3(GATA1):c.994G>T (p.Gly332Cys) SNV Pathogenic 156269 rs587776455 GRCh37: X:48652323-48652323
GRCh38: X:48793916-48793916
16 GATA1 NM_002049.3(GATA1):c.220+1G>C SNV Likely pathogenic 567419 rs1569499366 GRCh37: X:48649737-48649737
GRCh38: X:48791330-48791330
17 GATA1 NM_002049.3(GATA1):c.94G>A (p.Val32Ile) SNV Uncertain significance 465135 rs782698349 GRCh37: X:48649610-48649610
GRCh38: X:48791203-48791203
18 GATA1 NM_002049.3(GATA1):c.480T>G (p.Asn160Lys) SNV Uncertain significance 533695 rs143332634 GRCh37: X:48650510-48650510
GRCh38: X:48792103-48792103
19 GATA1 NM_002049.3(GATA1):c.892C>T (p.Arg298Trp) SNV Uncertain significance 406677 rs1060501251 GRCh37: X:48652221-48652221
GRCh38: X:48793814-48793814
20 GATA1 NM_002049.3(GATA1):c.419G>A (p.Arg140Gln) SNV Uncertain significance 533694 rs997764249 GRCh37: X:48650449-48650449
GRCh38: X:48792042-48792042
21 GATA1 NM_002049.3(GATA1):c.64G>A (p.Ala22Thr) SNV Benign 533697 rs782188059 GRCh37: X:48649580-48649580
GRCh38: X:48791173-48791173

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 ZFPM1 GATA1
2 10.85 ZFPM1 GATA1
3 10.44 ZFPM1 GATA1

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 ZFPM1 GATA1
2 transcriptional repressor complex GO:0017053 8.62 ZFPM1 GATA1

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

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

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 transcription factor binding GO:0001085 8.62 ZFPM1 GATA1

Sources for Dyserythropoietic Anemia and Thrombocytopenia

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....