Thrombocytopenia-Absent Radius Syndrome (TAR)

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Disease Ontology 12 DOID:14699 OMIM 58 274000 KEGG 38 H01847 MeSH 45 C536940 D013921 D038062 NCIt 51 C99038 SNOMED-CT 69 85589009 ICD10 34 Q87.2

ICD10 via Orphanet 35 Q87.2 UMLS via Orphanet 75 C0175703 Orphanet 60 ORPHA3320 MedGen 43 C0175703 SNOMED-CT via HPO 70 111266001 119250001 11934000 127962001 128602000 128613002 13649004 157265008 15911003 16026008 165397008 22066006 224958001 228156007 22841008 237836003 246545002 247578003 248942000 249684000 249769001 249773003 249785006 249808002 253273004 253366007 253549006 253930002 258211005 263029007 268251006 271737000 299236004 299331007 302215000 30288003 31258000 313307000 32958008 34048007 362970003 36760000 37373007 396351009 397932003 405752007 415116008 41729002 443710002 445124008 50563003 59494005 60700002 63567004 64217002 64779008 67531005 70142008 708670007 72535009 7305005 84757009 86299006 86708008 87979003 91138005 91175000 more UMLS 74 C0175703

NIH Rare Diseases : ⁵⁴ TAR syndrome is characterized by the absence of a bone called the radius in each forearm, short stature, and thrombocytopenia. The thrombocytopenia often appears first in infancy but becomes less severe or returns to normal over time. Infants and young children are particularly vulnerable to episodes of severe bleeding which may occur in the brain and other organs. Children who survive this period and do not have damaging bleeding in the brain usually have a normal life expectancy and normal intellectual development. Other signs and symptoms vary but may include heart defects, kidney defects, and other skeletal abnormalities. About half of people with TAR syndrome also have difficulty digesting cow's milk. TAR syndrome is thought be caused by a deletion of genes on chromosome 1q21.1 in concert with another genetic change that has yet to be identified. Click here to see a diagram of chromosome 1.

MalaCards based summary : Thrombocytopenia-Absent Radius Syndrome, also known as tar syndrome, is related to perry syndrome and storage pool platelet disease. An important gene associated with Thrombocytopenia-Absent Radius Syndrome is RBM8A (RNA Binding Motif Protein 8A), and among its related pathways/superpathways is NF-kappaB Signaling. Affiliated tissues include bone, kidney and bone marrow, and related phenotypes are thrombocytopenia and abnormality of coagulation

Genetics Home Reference : ²⁶ Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cell fragments involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less severe over time; in some cases the platelet levels become normal.

OMIM : ⁵⁸ The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see 227650). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, 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 such as malformations of the hip and knee (summary by Albers et al., 2012). (274000)

UniProtKB/Swiss-Prot : ⁷⁶ Thrombocytopenia-absent radius syndrome: An autosomal recessive disorder characterized by bilateral absence of the radii with the presence of both thumbs, thrombocytopenia, low numbers of megakaryocytes, and bleeding episodes in the first year of life. Thrombocytopenic episodes decrease with age. Skeletal anomalies range from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee.

Wikipedia : ⁷⁷ TAR syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by... more...

GeneReviews: NBK23758

Clinical features from OMIM:

274000

Search NIH Clinical Center for Thrombocytopenia-Absent Radius Syndrome

Search GEO for disease gene expression data for Thrombocytopenia-Absent Radius Syndrome.