Thrombocytopenia
|
0.200 |
CausalMutation
|
phenotype |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
Thrombocytopenia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
The Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency disorder, caused by mutations in the WAS protein (WASP) gene and characterised by thrombocytopenia, small platelets, eczema, and recurrent infections associated with increased risk of autoimmunity and malignancy disorders.
|
26993433 |
2017 |
Thrombocytopenia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Our findings further support the importance of analysis of Wiskott-Aldrich syndrome protein in male patients who exhibit fluctuating courses of thrombocytopenia.
|
24115682 |
2014 |
Thrombocytopenia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in WASP result in a wide spectrum of clinical manifestations ranging from the relatively mild X-linked thrombocytopenia to the classic full-blown WAS phenotype characterized by thrombocytopenia, immunodeficiency, eczema, and high susceptibility to developing tumors and autoimmune manifestations.
|
19351959 |
2009 |
Thrombocytopenia
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan.
|
17703096 |
2008 |
Thrombocytopenia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.
|
17390083 |
2007 |
Thrombocytopenia
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.
|
17400488 |
2007 |
Thrombocytopenia
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.
|
17390083 |
2007 |
Thrombocytopenia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The authors conclude that screening by flow cytometry for WASP is recommended for boys with persistent thrombocytopenia of an unknown etiology.
|
15218418 |
2004 |
Thrombocytopenia
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP).
|
12591280 |
2003 |
Thrombocytopenia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Wiskott-Aldrich syndrome (WAS), is an X-linked immunodeficiency disease caused by mutations of the WAS protein (WASP) gene, characterized by thrombocytopenia, eczema and recurrent infections.
|
11793485 |
2002 |
Thrombocytopenia
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.
|
11877312 |
2002 |
Thrombocytopenia
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|