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GTR Home > Conditions/Phenotypes > Thrombocytopenia 2

Thrombocytopenia 2

Synonyms
Thrombocytopenia autosomal dominant 2

Summary

Excerpted from the GeneReview: ANKRD26-Related Thrombocytopenia
ANKRD26-related thrombocytopenia is characterized by lifelong mild-to-moderate thrombocytopenia with a normal platelet size and no syndromic associations. Most individuals have normal hemostasis or a mild bleeding phenotype and do not develop severe spontaneous bleeding. Some individuals may have concomitant erythrocytosis and leukocytosis. The risk for myeloid malignancies (including myelodysplastic syndrome, acute myelogenous leukemia, and chronic myelogenous leukemia) is increased in individuals with ANKRD26 pathogenic variants.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Juliana Perez Botero
Stefanie N Dugan
Matthew W Anderson
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Available tests

48 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: THC2, bA145E8.1, ANKRD26
    Summary: ankyrin repeat domain containing 26

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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