Thrombocytopenia-absent radius syndrome

Preferred Label : Thrombocytopenia-absent radius syndrome;

Symbol : TAR;

CISMeF acronym : TAR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tar syndrome; Chromosome 1q21.1 deletion syndrome, 200-kb;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RNA-binding motif protein 8A gene (RBM8A, 605313.0001);

Prefixed ID : #274000;

Details

Origin ID

274000;

UMLS CUI

C0175703;

Automatic exact mappings (from CISMeF team)
- Antiretroviral therapy [LOINC Class]
- RBM8A wt Allele [NCIt concept]
- TAR Format [NCIt concept]
- Tar [ICD-11 Extension code]
- Tar (substance) [SNOMED CT concept]
- Tar Dosage Form [NCIt concept]
- Thrombocytopaenia - absent radius [ICD-11 More detail]
- tars [ATC Code]
- tars [MeSH Descriptor]
- tars [MeSH concept]
Currated CISMeF NLP mapping
- Absent radii and thrombocytopenia [MeSH concept]
- Radial Aplasia-Thrombocytopenia Syndrome [NCIt concept]
- Radial aplasia-thrombocytopenia syndrome (disorder) [SNOMED CT concept]
- TAR syndrome [Disease (Nov.)]
- TAR syndrome [MedDRA LLT]
- Thrombocytopenia-absent radius syndrome [ORDO Disease]
- Thrombocytopenia-absent radius syndrome [MedDRA Preferred Term]
- absent radii and thrombocytopenia [MeSH Supplementary Concept]
- thrombocytopenia-absent radius syndrome [DO Concept]
DO Cross reference
- thrombocytopenia-absent radius syndrome [DO Concept]
False automatic mappings
- Theory of Reasoned Action [MeSH concept]
Genes related to phenotype
- Rna-binding motif protein 8a [OMIM gene]
HPO term(s)
- Abnormal shoulder morphology [HPO term]
- Abnormality of the kidney [HPO term]
- Adducted thumb [HPO term]
- Anemia [HPO term]
- Anteverted nares [HPO term]
- Aplasia of the uterus [HPO term]
- Aplasia/Hypoplasia of the ulna [HPO term]
- Aplasia/hypoplasia of the humerus [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axial malrotation of the kidney [HPO term]
- Bilateral radial aplasia [HPO term]
- Brachycephaly [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Carpal bone hypoplasia [HPO term]
- Carpal synostosis [HPO term]
- Cavum septum pellucidum [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cervical ribs [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coarctation of aorta [HPO term]
- Cow milk allergy [HPO term]
- Coxa valga [HPO term]
- Death in infancy [HPO term]
- Decreased circulating antibody level [HPO term]
- Delayed CNS myelination [HPO term]
- Edema of the dorsum of feet [HPO term]
- Edema of the dorsum of hands [HPO term]
- Eosinophilia [HPO term]
- Fibular aplasia [HPO term]
- Finger syndactyly [HPO term]
- Fused cervical vertebrae [HPO term]
- Genu varum [HPO term]
- Global developmental delay [HPO term]
- Hepatosplenomegaly [HPO term]
- Hip dislocation [HPO term]
- Horseshoe kidney [HPO term]
- Intellectual disability [HPO term]
- Lateral clavicle hook [HPO term]
- Leukocytosis [HPO term]
- Malar flattening [HPO term]
- Meckel diverticulum [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Nevus flammeus of the forehead [HPO term]
- Pancreatic cysts [HPO term]
- Patellar aplasia [HPO term]
- Patellar dislocation [HPO term]
- Phocomelia [HPO term]
- Ptosis [HPO term]
- Seborrheic dermatitis [HPO term]
- Seizure [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Shoulder muscle hypoplasia [HPO term]
- Spina bifida [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Tetralogy of Fallot [HPO term]
- Thrombocytopenia [HPO term]
- Tibial torsion [HPO term]
- Ventricular septal defect [HPO term]
Not associated HPO term(s)
- Absent thumb [HPO term]
ORDO concept(s)
- Thrombocytopenia-absent radius syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Absent radii and thrombocytopenia [MeSH concept]
- Radial Aplasia-Thrombocytopenia Syndrome [NCIt concept]
- Radial aplasia-thrombocytopenia syndrome (disorder) [SNOMED CT concept]
- TAR syndrome [MedDRA LLT]
- TAR syndrome [Disease (Nov.)]
- Thrombocytopenia-absent radius syndrome [MedDRA Preferred Term]
- Thrombocytopenia-absent radius syndrome [ORDO Disease]
- absent radii and thrombocytopenia [MeSH Supplementary Concept]
- radial aplasia-thrombocytopenia syndrome [SNOMED Notion]
- thrombocytopenia-absent radius syndrome [DO Concept]

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