Thrombocytopenia, x-linked

Common Name(s)

Thrombocytopenia, x-linked

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.
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Advocacy and Support Organizations Health Questions Recommended Apps Scientific Literature Symptoms, Diagnosis, and Treatment Clinical Trial Information
 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Recommended Apps

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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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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Thrombocytopenia, x-linked" returned 0 free, full-text research articles on human participants.

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

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Symptoms, Diagnosis, and Treatment

This information is provided by Genetics Home Reference.
https://ghr.nlm.nih.gov/condition/x-linked-thrombocytopenia
https://ghr.nlm.nih.gov/condition/dyserythropoietic-anemia-and-thrombocytopenia
https://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome
https://ghr.nlm.nih.gov/gene/WAS
https://ghr.nlm.nih.gov/condition/x-linked-infantile-nystagmus
https://ghr.nlm.nih.gov/condition/x-linked-lymphoproliferative-disease
https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia
https://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia
https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy
https://ghr.nlm.nih.gov/condition/x-linked-juvenile-retinoschisis
https://ghr.nlm.nih.gov/condition/x-linked-creatine-deficiency
https://ghr.nlm.nih.gov/condition/x-linked-myotubular-myopathy
https://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism
https://ghr.nlm.nih.gov/condition/x-linked-dilated-cardiomyopathy
https://ghr.nlm.nih.gov/condition/immune-thrombocytopenia
https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome
https://ghr.nlm.nih.gov/condition/x-linked-congenital-stationary-night-blindness
https://ghr.nlm.nih.gov/condition/x-linked-infantile-spasm-syndrome
https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome
https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency
Full Results at Genetics Home Reference: 706 matches
This information is provided by GeneReviews.
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

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: 4 Oct 2016

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Investigation of the Genetics of Hematologic Diseases
 

Status: Recruiting

Condition Summary: Bone Marrow Failure Syndromes; Erythrocyte Disorder; Leukocyte Disorder; Hemostasis; Blood Coagulation Disorder; Sickle Cell Disease; Dyskeratosis Congenita; Diamond-Blackfan Anemia; Congenital Thrombocytopenia; Severe Congenital Neutropenia; Fanconi Anemia

 

Last Updated: 1 Mar 2017

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Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
 

Status: Recruiting

Condition Summary: Primary Immunodeficiency (PID); Congenital Bone Marrow Failure Syndromes; Inherited Metabolic Disorders (IMD); Hereditary Anemias; Inflammatory Conditions

 

Last Updated: 2 Jun 2017

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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 8 "Thrombocytopenia, x-linked" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:
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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.
Learn More