MCID: GT1001
MIFTS: 11

Gata1-Related X-Linked Cytopenia

Aliases & Classifications for Gata1-Related X-Linked Cytopenia

MalaCards integrated aliases for Gata1-Related X-Linked Cytopenia:

Name: Gata1-Related X-Linked Cytopenia 24

Summaries for Gata1-Related X-Linked Cytopenia

MalaCards based summary : Gata1-Related X-Linked Cytopenia is related to dyserythropoietic anemia and thrombocytopenia and porphyria, congenital erythropoietic. An important gene associated with Gata1-Related X-Linked Cytopenia is GATA1 (GATA Binding Protein 1). Affiliated tissues include bone, bone marrow and myeloid.

GeneReviews: NBK1364

Related Diseases for Gata1-Related X-Linked Cytopenia

Diseases related to Gata1-Related X-Linked Cytopenia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 dyserythropoietic anemia and thrombocytopenia 11.7
2 porphyria, congenital erythropoietic 10.4
3 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 10.4
4 thrombocytopenia with beta-thalassemia, x-linked 10.4
5 thalassemia 10.4
6 hemosiderosis 10.4
7 neutropenia 10.4
8 porphyria 10.4
9 thrombocytopenia 10.4
10 fetal edema 10.4
11 hydrops fetalis 10.4
12 rare hereditary hemochromatosis 10.4

Graphical network of the top 20 diseases related to Gata1-Related X-Linked Cytopenia:



Diseases related to Gata1-Related X-Linked Cytopenia

Symptoms & Phenotypes for Gata1-Related X-Linked Cytopenia

Drugs & Therapeutics for Gata1-Related X-Linked Cytopenia

Search Clinical Trials , NIH Clinical Center for Gata1-Related X-Linked Cytopenia

Genetic Tests for Gata1-Related X-Linked Cytopenia

Anatomical Context for Gata1-Related X-Linked Cytopenia

MalaCards organs/tissues related to Gata1-Related X-Linked Cytopenia:

41
Bone, Bone Marrow, Myeloid

Publications for Gata1-Related X-Linked Cytopenia

Articles related to Gata1-Related X-Linked Cytopenia:

(show top 50) (show all 55)
# Title Authors PMID Year
1
A Child With Dyserythropoietic Anemia and Megakaryocyte Dysplasia Due to a Novel 5'UTR GATA1s Splice Mutation. 4
26713410 2016
2
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis. 4
25251786 2015
3
X-linked thrombocytopenia with thalassemia displays bone marrow reticulin fibrosis and enhanced angiogenesis: comparisons with primary myelofibrosis. 4
25421114 2015
4
Recurrent GATA1 mutations in Diamond-Blackfan anaemia. 4
24766296 2014
5
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. 4
24453067 2014
6
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. 4
24166784 2014
7
Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia. 4
23935018 2014
8
Novel GATA1 mutation in residue D218 leads to macrothrombocytopenia and clinical bleeding problems. 4
23971719 2014
9
GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia. 4
24021668 2013
10
Analysis of disease-causing GATA1 mutations in murine gene complementation systems. 4
23704091 2013
11
A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia. 4
23278136 2013
12
Naturally occurring oncogenic GATA1 mutants with internal deletions in transient abnormal myelopoiesis in Down syndrome. 4
23440243 2013
13
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. 4
22706301 2012
14
Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis. 4
19594743 2009
15
Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype. 4
19268002 2009
16
Congenital transfusion-dependent anemia and thrombocytopenia with myelodysplasia due to a recurrent GATA1(G208R) germline mutation. 4
17713552 2008
17
Platelet pathology in carriers of the X-linked GATA-1 macrothrombocytopenia. 4
18041654 2007
18
Platelet pathology in sex-linked GATA-1 dyserythropoietic macrothrombocytopenia II. Cytochemistry. 4
17763153 2007
19
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. 4
17209061 2007
20
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. 4
17148589 2007
21
The gray platelet syndrome: clinical spectrum of the disease. 4
16442192 2007
22
An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. 4
16783379 2006
23
Transcription factor GATA-1 and Down syndrome leukemogenesis. 4
16840187 2006
24
GATA-1: one protein, many partners. 4
16095949 2006
25
AML patients with Down syndrome have a high cure rate with AML-BFM therapy with reduced dose intensity. 4
15920490 2005
26
Selective impairment of platelet activation to collagen in the absence of GATA1. 4
15701726 2005
27
Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1. 4
15895080 2005
28
GATA1 function, a paradigm for transcription factors in hematopoiesis. 4
15684376 2005
29
GATA1 in normal and malignant hematopoiesis. 4
15659348 2005
30
Origins of leukaemia in children with Down syndrome. 4
15630411 2005
31
GATA1 mutations in Down syndrome: implications for biology and diagnosis of children with transient myeloproliferative disorder and acute megakaryoblastic leukemia. 4
15390312 2005
32
Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1. 4
16103636 2005
33
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. 4
15477207 2004
34
Inherited thrombocytopenias: molecular mechanisms. 4
15497094 2004
35
Natural history of GATA1 mutations in Down syndrome. 4
14656875 2004
36
Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis. 4
14691578 2004
37
Inherited thrombocytopenia: when a low platelet count does not mean ITP. 4
14504084 2004
38
Cooperation between the GATA and RUNX factors Serpent and Lozenge during Drosophila hematopoiesis. 4
14657024 2003
39
A tissue-specific knockout reveals that Gata1 is not essential for Sertoli cell function in the mouse. 4
12954777 2003
40
RUNX1 and GATA-1 coexpression and cooperation in megakaryocytic differentiation. 4
12576332 2003
41
X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. 4
12200364 2002
42
Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. 4
12172547 2002
43
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. 4
11809723 2002
44
Roles of hematopoietic transcription factors GATA-1 and GATA-2 in the development of red blood cell lineage. 4
12432220 2002
45
X-linked thrombocytopenia caused by a novel mutation of GATA-1. 4
11675338 2001
46
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. 4
11418466 2001
47
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. 4
11254675 2001
48
Mapping of a syndrome of X-linked thrombocytopenia with Thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia. 4
10733494 2000
49
Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. 4
10700180 2000
50
Transcriptional cofactors of the FOG family interact with GATA proteins by means of multiple zinc fingers. 4
10329627 1999

Variations for Gata1-Related X-Linked Cytopenia

Expression for Gata1-Related X-Linked Cytopenia

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GO Terms for Gata1-Related X-Linked Cytopenia

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