Thrombocytopenia, x-linked

Common Name(s)

Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency (summary by {12:Villa et al., 1995}). Genetic Heterogeneity of Hereditary Thrombocytopenia Autosomal dominant forms of thrombocytopenia include THC2 ({188000}), caused by mutation in the ANKRD26 ({610855}) gene on chromosome 10; THC4 ({612004}), caused by mutation in the CYCS gene ({123970}) on chromosome 7; THC5 ({616216}), caused by mutation in the ETV6 gene ({600618}) on chromosome 12p13; and THC6 ({616937}), caused by mutation in the SRC gene ({190090}) on chromosome 20q12. An autosomal recessive form (THC3; {273900}) is caused by mutation in the FYB gene ({602731}) on chromosome 5p13. Also see {188000} for discussion of a possible form of THC caused by mutation in the MASTL gene ({608221}) on chromosome 10. {2:Balduini and Savoia (2012)} reviewed the familial forms of thrombocytopenia and their molecular bases.

Source: Online Mendelian Inheritance in Man

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

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

This information is provided by Genetics Home Reference.

Full Results at Genetics Home Reference: 743 matches

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http://www.ncbi.nlm.nih.gov/books/NBK1178

This information is provided by Genetic Testing Registry.

http://www.ncbi.nlm.nih.gov/gtr/conditions/C1839163

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease

Status: Not yet recruiting

Condition Summary: Bone Marrow Failure Syndrome; Thalassemia; Sickle Cell Disease; Diamond Blackfan Anemia; Acquired Neutropenia in Newborn; Acquired Anemia Hemolytic; Acquired Thrombocytopenia; Hemophagocytic Lymphohistiocytoses; Wiskott-Aldrich Syndrome; Chronic Granulomatous Disease; Common Variable Immunodeficiency; X-linked Lymphoproliferative Disease; Severe Combined Immunodeficiency; Hurler Syndrome; Mannosidosis; Adrenoleukodystrophy

Last Updated: 15 May 2018

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According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Thrombocytopenia, x-linked" (open studies are recruiting volunteers) and 3 "Thrombocytopenia, x-linked" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:

Relief is when you and the right researcher find each other
Finding the right clinical trial for Thrombocytopenia, x-linked can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

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