Hematology · Hematology / Bone marrow failure
Thrombocytopenia with absent radii syndrome
also: TAR syndrome
Congenital hypomegakaryocytic thrombocytopenia with bilateral absent radii.
- Specialty
- Hematology
- Subspecialty
- Hematology / Bone marrow failure
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, birth
- Gene(s) involved
- RBM8A
- Alternative names & eponyms
- TAR syndrome
Etiology & mechanism
Compound inheritance of RBM8A null allele and a hypomorphic variant.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Thrombocytopenia with absent radii syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Dengue shock syndrome
bleeding, thrombocytopenia
2 shared
Disseminated intravascular coagulation syndrome
bleeding, petechiae
2 shared
Jacobsen syndrome
bleeding, thrombocytopenia
2 shared
Kasabach–Merritt syndrome
bleeding, thrombocytopenia
2 shared
Paris–Trousseau syndrome
bleeding, thrombocytopenia
2 shared
Thrombocytopenia-absent radius syndrome
heart defects, thrombocytopenia
1 shared
Antiphospholipid syndrome
thrombocytopenia
1 shared
Atypical hemolytic uremic syndrome
thrombocytopenia
1 shared
Bernard–Soulier syndrome
thrombocytopenia
1 shared
Cat eye syndrome
heart defects
Shares genes with
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