Details of Disease | DrugMAP

General Information of Disease (ID: DIS5CVW9)

Disease Name	Thrombocytopenia-absent radius syndrome
Synonyms	absent radii and thrombocytopenia; thrombocytopenia absent radii; thrombocytopenia absent radius syndrome; chromosome 1Q21.1 deletion syndrome, 200-Kb; TAR; Tar syndrome; 1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome; thrombocytopenia-absent radius syndrome; Thrombocytopenia Absent Radius Syndrome; thrombocytopenia with absent radii (TAR) syndrome; radial aplasia-thrombocytopenia syndrome; TAR syndrome
Definition	Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS3LICD: Congenital limb malformation DISAWDAB: Congenital hematological disorder DIS5M94B: Non-syndromic limb reduction defect DISHPNVX: Dysplasia DISFXMTP: Syndromic constitutional thrombocytopenia DIS5CVW9: Thrombocytopenia-absent radius syndrome
Disease Identifiers	MONDO ID MONDO_0010121 MESH ID C536940 UMLS CUI C0175703 OMIM ID 274000 MedGen ID 61235 Orphanet ID 3320 SNOMED CT ID 85589009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
THPO	TTCG5PE	Strong	Biomarker	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HOXD11	OT9XGA4G	Strong	Biomarker	[2]
SMOC1	OTJG2JQY	Strong	Biomarker	[3]
RBM8A	OT5SR6G0	Definitive	Autosomal recessive	[4]
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References

1	Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome.Haematologica. 2012 Jan;97(1):73-81. doi: 10.3324/haematol.2011.049619. Epub 2011 Sep 20.
2	Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome.Br J Haematol. 2002 Feb;116(2):367-75. doi: 10.1046/j.1365-2141.2002.03263.x.
3	SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet. 2011 Jan 7;88(1):30-41. doi: 10.1016/j.ajhg.2010.11.012. Epub 2010 Dec 30.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.