Absent radii and thrombocytopenia

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

Also Known As:

Networked: 34 relevant articles (3 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Thrombocytopenia (Thrombopenia)
2.	Knee Osteoarthritis
3.	Aplastic Anemia (Anemia, Hypoplastic)
4.	Absent radii and thrombocytopenia
5.	Rare Diseases (Rare Disease)

Experts

1.	Schmugge, Markus: 2 articles (11/2017 - 01/2012)
2.	Schulze, Harald: 2 articles (11/2017 - 01/2012)
3.	Souto, Giovanna-Ribeiro: 1 article (12/2020)
4.	da Costa, Danilo-Viegas: 1 article (12/2020)
5.	de Abreu, Fernando-Antônio-Mauad: 1 article (12/2020)
6.	de Araújo, Vania-Eloisa: 1 article (12/2020)
7.	Cowan, Jael: 1 article (09/2020)
8.	Mora, Ricardo: 1 article (09/2020)
9.	Parikh, Taral: 1 article (09/2020)
10.	Waghela, Rajdeepsingh: 1 article (09/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Absent radii and thrombocytopenia:

1.	Interleukin-6 (Interleukin 6)IBA 09/01/1998 - "We conclude that IL-6 may benefit some children with TAR syndrome. " 09/01/1998 - "A 23-month-old girl with TAR syndrome was treated with recombinant IL-6 (Sigosix; Serono Laboratories, Norwell, MA) at a dose of 7 micrograms/kg subcutaneously daily. " 09/01/1998 - "The purpose of this case report is to describe the efficacy of IL-6 in a child with thrombocytopenia with absent radii (TAR) syndrome. " 06/01/2000 - "To determine the frequency and responsiveness to cytokines of megakaryocyte progenitors (CFU-Meg) in TAR syndrome, the authors studied marrow samples from 3 patients and 6 normal controls, using optimally standardized megakaryocyte growth media incorporating interleukin-3, interleukin-6, stem cell factor, and granulocyte-monocyte colony-stimulating factor, with and without pegylated recombinant human megakaryocyte growth and development factor (PEG-rHuMGDF). "
2.	NucleotidesIBA 01/01/2014 - "The study describes the first case of prenatal analysis of TAR syndrome in a fetus with compound inheritance of a 334‑kb deletion in the 1q21.1 region and a low‑frequency 5' UTR single nucleotide polymorphism, and provides confirmation of the causal nature of the RBM8A gene in the diagnosis of TAR syndrome. "
3.	Aspirin (Acetylsalicylic Acid)FDA LinkGeneric 01/01/1981 - "This study reports the first example of 'storage pool disease' thrombocytopathia B (aspirin-like) in the family of a 4-month-old infant with thrombocytopenic absent radii (TAR) syndrome. "
4.	Thrombopoietin (c-mpl Ligand)IBA 01/01/2012 - "Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome." 11/01/1998 - "We performed mutational screening of coding and promoter regions of the c-mpl gene, encoding thrombopoietin (TPO) receptor, by sequence analysis in four unrelated patients affected by TAR syndrome. " 07/15/1997 - "We examined thrombopoietin (TPO) serum levels and the in vitro reactivity of platelets to TPO in five patients affected with TAR syndrome. " 01/01/1991 - "These findings suggest that the TAR syndrome in this infant is due to a failure in the production of thrombopoietin or to an abnormal progenitor cell with a maturational defect." 07/01/1996 - "Thrombopoietin serum levels in children with thrombocytopenia associated with aplastic anemias, Fanconi anemia and TAR syndrome are elevated whereas in children with idiopathic thrombocytopenia the TPO levels are normal. "
5.	5' Untranslated Regions (5' UTR)IBA 08/01/2023 - "While most patients with TAR syndrome harbor a SNP in either the 5' UTR region or in intron 1 of RBM8A, further SNPs associated with TAR syndrome are still being identified. " 11/01/2017 - "The genetics of TAR syndrome has recently been resolved and comprises a microdeletion on Chromosome 1 including the RBM8A gene and a single nucleotide polymorphism (SNP) either at the 5' untranslated region (5'UTR) or within the first intron of RBM8A. "
6.	Transforming Growth Factor beta3 (TGF beta 3)IBA 01/01/2009 - "We have reported that bone marrow adherent stromal cells from patients with TAR syndrome do not express CD105 antigen (expressed in normal mesenchymal cells), part of the receptor complex for TGF-beta1 and TGF-beta3. "
7.	Transforming Growth Factor beta1 (TGF beta 1)IBA 01/01/2009 - "We have reported that bone marrow adherent stromal cells from patients with TAR syndrome do not express CD105 antigen (expressed in normal mesenchymal cells), part of the receptor complex for TGF-beta1 and TGF-beta3. "
8.	Fibroblast Growth Factor 8IBA 11/01/2016 - "The current paper reviews the pathogenesis of the clinical features of thrombocytopenia-absent radius syndrome and offers a hypothesis of pathogenesis through attenuation of the Fibroblast Growth Factor 8 signal in the mesoderm because of an increased degradation of the Fibroblast Growth Factor Receptor 1."
9.	Type 1 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 1)IBA 11/01/2016 - "The current paper reviews the pathogenesis of the clinical features of thrombocytopenia-absent radius syndrome and offers a hypothesis of pathogenesis through attenuation of the Fibroblast Growth Factor 8 signal in the mesoderm because of an increased degradation of the Fibroblast Growth Factor Receptor 1."
10.	CalreticulinIBA 12/01/2018 - "We report a case of myelodysplastic syndrome progressing to AML with calreticulin driver mutation in an adult male with TAR syndrome who was successfully treated with hematopoietic allogeneic stem cell transplantation."

Therapies and Procedures

1.	Knee Replacement Arthroplasty (Total Knee Replacement) 10/01/2014 - "The authors report a 59-year-old patient with TAR syndrome and knee abnormalities who underwent successful total knee arthroplasty. " 10/01/2014 - "Total knee arthroplasty in a patient with thrombocytopenia-absent radius syndrome." 10/01/2014 - "The authors concluded that total knee arthroplasty may be a safe and effective surgical intervention for adults with TAR syndrome and associated knee osteoarthritis. "
2.	Splenectomy 01/01/1978 - "A 41-year-old female with TAR syndrome and a normal number of megakaryocytes in the bone marrow improved after splenectomy. "
3.	Therapeutics 08/01/2023 - "Here, we report on the current understanding of the genetic basis, diagnosis, and therapy of TAR syndrome and discuss patient self-empowerment by enabling networking and exchange between affected individuals and families." 01/01/1988 - "With the increased understanding of the natural history and pathophysiology of the hypomegakaryocytic thrombocytopenia in the TAR syndrome, in conjunction with the advances in supportive therapy discussed, the outlook for patients with this syndrome has become quite good." 09/20/2020 - "Therefore, all patients with TAR syndrome should be monitored closely for symptomatic thrombocytopenia with platelet transfusions being implemented as the first-line therapy for the treatment of severe or symptomatic disease."
4.	Cesarean Section (Caesarean Section) 10/01/2011 - "Management of a parturient with TAR syndrome during caesarean section and the use of thromboelastography." 01/01/2008 - "Management of a parturient with thrombocytopenia-absent-radius syndrome undergoing urgent caesarean section." 04/01/1986 - "Review of the literature revealed this to be the first report of cesarean section in a TAR syndrome patient. "
5.	Platelet Transfusion (Blood Platelet Transfusions) 09/01/1994 - "Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome." 09/20/2020 - "Therefore, all patients with TAR syndrome should be monitored closely for symptomatic thrombocytopenia with platelet transfusions being implemented as the first-line therapy for the treatment of severe or symptomatic disease."