Congenital thrombocytopenia

Known as: Congenital and hereditary thrombocytopenia, Thrombocytopenia, congenital 
Thrombocytopenia with congenital onset. [HPO:probinson]
National Institutes of Health

Related topics

Related topics

11 relations
Autoimmune thrombocytopeniaEvans syndromeImmune thrombocytopenic purpuraKasabach-Merritt syndrome
(More)

Narrower (1)

Megakaryocytic hypoplasia

Broader (2)

ThrombocytopeniaThrombocytopenic purpura

Papers overview

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Review
2016
Review
2016
Linkage between the mechanisms of thrombocytopenia and thrombopoiesis.
Thrombocytopenia is defined as a status in which platelet numbers are reduced. Imbalance between the homeostatic regulation of… (More)
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2013
2013
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency.
The gray platelet syndrome is a rare inherited bleeding disorder characterized by macrothrombocytopenia and deficiency of alpha… (More)
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2007
2007
Chromosomal aberrations in congenital bone marrow failure disorders—an early indicator for leukemogenesis?
As chromosomal instability may contribute to leukemogenesis in patients with congenital bone marrow failure (CBMF) disorders, it… (More)
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2004
2004
Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema
Of the congenital disorder of glycosylation (CDG) syndromes, type 1a is the most common. CDG 1a is a multisystem disorder with a… (More)
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2004
2004
IgA nephropathy associated with X-linked thrombocytopenia
X-Linked thrombocytopenia (XLT) is characterized by congenital thrombocytopenia with small platelets and absence of… (More)
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2003
2003
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).
OBJECTIVE We studied two adult brothers with severe congenital thrombocytopenia in order to determine the genetic etiology of… (More)
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1997
1997
Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin.
The pathophysiology of thrombocytopenia in the syndrome of thrombocytopenia with absent radii (TAR) is not yet understood. We… (More)
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Highly Cited
1995
Highly Cited
1995
The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.
The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia, small platelets, eczema… (More)
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1995
1995
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
The WASP gene has been recently cloned from Xp11.23 and shown to be mutated in three patients with the Wiskott-Aldrich syndrome… (More)
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1995
1995
A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23.
This study characterizes a new congenital thrombocytopenia with mild hemorrhagic tendency occurring in a woman and her child with… (More)
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