Thrombocytopenia, x-linked

Common Name(s)

Thrombocytopenia, x-linked

Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency ({11:Villa et al., 1995}). Genetic Heterogeneity of Hereditary Thrombocytopenia One autosomal dominant form of thrombocytopenia (THC2; {188000}) is caused by mutation in the ANKRD26 ({610855}) gene and possibly the MASTL gene ({608221}), both located on chromosome 10. Another autosomal dominant form (THC4; {612004}) is caused by mutation in the cytochrome c gene (CYCS; {123970}) on chromosome 7. A possible autosomal recessive form also exists (THC3; {273900}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Thrombocytopenia, x-linked" for support, advocacy or research.

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Scientific Literature

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The terms "Thrombocytopenia, x-linked" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Interleukin-2 Treatment for Wiskott-Aldrich Syndrome
 

Status: Recruiting

Condition Summary: Wiskott-Aldrich Syndrome (WAS); X-linked Thrombocytopenia

 

Last Updated: 16 Jan 2014

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Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Thalassemia; Anemia; Granuloma; Wiskott-Aldrich Syndrome; Chediak Higashi Syndrome; Osteopetrosis; Neutropenia; Thrombocytopenia; Hurler Disease; Niemann-Pick Disease; Fucosidosis

 

Last Updated: 22 Jun 2011

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Human Placental-Derived Stem Cell Transplantation
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis I; Mucopolysaccharidosis VI; Adrenoleukodystrophy; Niemann-Pick Disease; Metachromatic Leukodystrophy; Wolman Disease; Krabbe's Disease; Gaucher's Disease; Fucosidosis; Batten Disease; Severe Aplastic Anemia; Diamond-Blackfan Anemia; Amegakaryocytic Thrombocytopenia; Myelodysplastic Syndrome; Acute Myelogenous Leukemia; Acute Lymphocytic Leukemia

 

Last Updated: 18 Feb 2014

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