Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted. The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov. Updates regarding government operating status and resumption of normal operations can be found at opm.gov.

NLM Logo

Absent radii and thrombocytopenia MeSH Supplementary Concept Data 2025


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 Numbers
0
Heading Mapped to
Radius
*Thrombocytopenia
*Upper Extremity Deformities, Congenital
*Congenital Bone Marrow Failure Syndromes
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 Preferred
page delivered in 0.005s