Thrombocytopenia-Absent Radius Syndrome (TAR)

Alias:

Tar Syndrome

Radial Aplasia-Thrombocytopenia Syndrome

Chromosome 1q21.1 Deletion Syndrome, 200-Kb

Absent Radii and Thrombocytopenia

Tar

Radial Aplasia-Amegakaryocytic Thrombocytopenia

Thrombocytopenia with Absent Radii Syndrome

Thrombocytopenia Absent Radius Syndrome

Chromosome 1q21.1 Deletion Syndrome

Thrombocytopenia Absent Radii

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Thrombocytopenia-Absent Radius Syndrome, also known as tar syndrome, is related to thrombocytopenia and glanzmann thrombasthenia 1. An important gene associated with Thrombocytopenia-Absent Radius Syndrome is RBM8A (RNA Binding Motif Protein 8A), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Visual Cycle in Retinal Rods. Affiliated tissues include bone and bone marrow, and related phenotypes are thrombocytopenia and abnormality of coagulation

Related ID：

MALACARDS：THR009

OMIM：274000

MESH：C536940