| H01847 | |
| H番号 | H01847 |
| 名称 | 血小板減少-橈骨欠損症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | RBM8A [HSA:9939] [KO:K12876] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3B64.01 ICD-10: Q87.2 MeSH: C536940 OMIM: 274000 |
| 文献 | PMID:13638337 著者 SHAW S, OLIVER RA タイトル Congenital hypoplastic thrombocytopenia with skeletal deformaties in siblings. 雑誌 Blood 14:374-7 (1959) PMID:4951233 著者 Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, van Berkum KA, McKusick VA タイトル Thrombocytopenia with absent radius (TAR). 雑誌 Medicine (Baltimore) 48:411-39 (1969) DOI:10.1097/00005792-196948060-00001 PMID:27981927 著者 Al-Qattan MM タイトル The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome. 雑誌 J Coll Physicians Surg Pak 26:912-916 (2016) PMID:26724991 著者 Khincha PP, Savage SA タイトル Neonatal manifestations of inherited bone marrow failure syndromes. 雑誌 Semin Fetal Neonatal Med 21:57-65 (2016) DOI:10.1016/j.siny.2015.12.003 PMID:24888387 著者 Wilson DB, Link DC, Mason PJ, Bessler M タイトル Inherited bone marrow failure syndromes in adolescents and young adults. 雑誌 Ann Med 46:353-63 (2014) DOI:10.3109/07853890.2014.915579 PMID:23602329 著者 Albers CA, Newbury-Ecob R, Ouwehand WH, Ghevaert C タイトル New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome. 雑誌 Curr Opin Genet Dev 23:316-23 (2013) DOI:10.1016/j.gde.2013.02.015 |