Thrombocytopenia-Absent Radius Syndrome

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OMIM 57 274000 Disease Ontology 12 DOID:14699 ICD10 33 Q87.2 MeSH 44 C536940 D013921 D038062 NCIt 50 C99038 SNOMED-CT 68 85589009 Orphanet 59 ORPHA3320

UMLS via Orphanet 74 C0175703 ICD10 via Orphanet 34 Q87.2 MedGen 42 C0175703 KEGG 37 H01847 SNOMED-CT via HPO 69 258211005 41729002 248942000 63567004 87979003 13649004 32958008 60700002 708670007 128602000 22066006 11934000 72535009 249684000 50563003 86708008 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 224958001 16026008 36760000 253549006 30288003 253366007 405752007 70142008 86299006 253273004 396351009 59494005 7305005 31258000 249808002 397932003 302215000 415116008 165397008 271737000 362970003 64779008 127962001 37373007 67531005 111266001 64217002 299236004 157265008 299331007 263029007 119250001 237836003 249769001 268251006 34048007 443710002 253930002 22841008 249773003 445124008 15911003 249785006 more UMLS 73 C0175703

NIH Rare Diseases : ⁵³ 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 amegakaryocytic thrombocytopenia, congenital 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 are TGF-Beta Pathway and PAK Pathway. Affiliated tissues include bone, kidney and bone marrow, and related phenotypes are finger syndactyly and scoliosis

OMIM : ⁵⁷ 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 : ⁷⁵ 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.

Genetics Home Reference : ²⁵ 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.

Wikipedia : ⁷⁶ TAR Syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by... more...

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Clinical features from OMIM:

274000

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