MeSH Browser

MeSH Supplementary: Absent radii and thrombocytopenia
Unique ID: C536940
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536940
Entry Term(s): Chromosome 1q21.1 Deletion Syndrome, 200-Kb; Radial Aplasia-Amegakaryocytic Thrombocytopenia; Radial Aplasia-Thrombocytopenia Syndrome; TAR Syndrome; Thrombocytopenia Absent Radii; Thrombocytopenia absent radius syndrome; Thrombocytopenia-Absent Radius Syndrome
Registry Number: 0
Heading Mapped to: *Congenital Bone Marrow Failure Syndromes; Radius; *Thrombocytopenia; *Upper Extremity Deformities, Congenital
Frequency: 46
Note: A hereditary disorder characterized by thrombocytopenia and absence of the radius. However, in contrast to similar disorders like FANCONI ANEMIA, the thumb is preserved. Individuals have low numbers of MEGAKARYOCYTES and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects. This disorder is caused by a combination of null mutation of the RBM8A gene through deletion on one copy of chromosome 1q21.1 and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms (SNPs) in RBM8A on the other. OMIM: 274000
Date of Entry: 2010/06/25
Revision Date: 2019/06/17

Absent radii and thrombocytopenia MeSH Supplementary Concept Data 2024