H01847 | |
H number | H01847 |
Name | Thrombocytopenia-absent radius syndrome; TAR syndrome |
Description | Thrombocytopenia-absent radius (TAR) syndrome is a rare autosomal recessive syndrome characterized by severe thrombocytopenia and bilateral defects in development of the radii at birth but with preservation of the thumb. Other physical abnormalities have been reported such as ulnar and humeral deformities, rib and cervical anomalies, cardiac lesions (usually septal defects), gastrointestinal and genitourinary abnormalities. Cow's milk allergy is highly prevalent in patients with TAR syndrome. TAR syndrome is caused by the compound (bi-allelic) inheritance of one of two noncoding single-nucleotide variants and a null allele in RBM8A. Clinical management is based on presentation, with platelet transfusions as required for thrombocytopenia and orthopedic intervention for functional optimization of upper limbs. |
Category | Congenital malformation |
Network | - |
Gene | RBM8A [HSA:9939] [KO:K12876] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 3B64.01 ICD-10: Q87.2 MeSH: C536940 OMIM: 274000 |
Reference | PMID:13638337 AUTHORS SHAW S, OLIVER RA TITLE Congenital hypoplastic thrombocytopenia with skeletal deformaties in siblings. JOURNAL Blood 14:374-7 (1959) PMID:4951233 AUTHORS Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, van Berkum KA, McKusick VA TITLE Thrombocytopenia with absent radius (TAR). JOURNAL Medicine (Baltimore) 48:411-39 (1969) DOI:10.1097/00005792-196948060-00001 PMID:27981927 AUTHORS Al-Qattan MM TITLE The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome. JOURNAL J Coll Physicians Surg Pak 26:912-916 (2016) PMID:26724991 AUTHORS Khincha PP, Savage SA TITLE Neonatal manifestations of inherited bone marrow failure syndromes. JOURNAL Semin Fetal Neonatal Med 21:57-65 (2016) DOI:10.1016/j.siny.2015.12.003 PMID:24888387 AUTHORS Wilson DB, Link DC, Mason PJ, Bessler M TITLE Inherited bone marrow failure syndromes in adolescents and young adults. JOURNAL Ann Med 46:353-63 (2014) DOI:10.3109/07853890.2014.915579 PMID:23602329 AUTHORS Albers CA, Newbury-Ecob R, Ouwehand WH, Ghevaert C TITLE New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome. JOURNAL Curr Opin Genet Dev 23:316-23 (2013) DOI:10.1016/j.gde.2013.02.015 |