ORPHA:3320
Thrombocytopenia-absent radius syndrome
Synonyms: TAR syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital malformation syndrome characterized by bilateral absence/hypoplasia of the radii with presence of both thumbs, and thrombocytopenia. Additional manifestations can include cow's milk allergy, anomalies of the lower limbs, heart and genitourinary system.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thrombocytopenia-absent radius syndrome | TAR syndrome |
| fr | Syndrome de thrombocytopénie-aplasie radiale | = en |
| de | Thrombozytopenie-Radiusaplasie-Syndrom | TAR-Syndrom |
| es | Síndrome de trombocitopenia-aplasia de radio | |
| it | Trombocitopenia - aplasia radiale | Sindrome TAR |
| nl | Trombocytopenie - afwezige radius-syndroom | TAR-syndroom · Trombocytopenie - afwezige radius-syndroom · Trombocytopenie - aplasie van radius-syndroom |
| pt | Síndrome de trombocitopenia-agenesia radial | Síndrome TAR |
| pl | Trombocytopenia - brak kości promieniowej | Zespół TAR |
| cs | Trombocytopenie s aplázií radia | TAR syndrom |
| uk | Синдром тромбоцитопенії та відсутності променевої кістки | TAR-синдром |
| zh | 血小板减少-桡骨缺失综合征 | TAR综合征 |
| tr | Trombositopeni- radius yokluğu sendromu | TAR sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 274000 | E | validated | |
| ICD-10 | Q87.2 | NTBT | inclusion | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0010121 | E | validated | |
| MeSH | C536940 | E | validated | |
| UMLS | C0175703 | E | validated | |
| GARD | 5116 | E | validated | |
| MedDRA | 10071719 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RBM8A | Disease-causing germline mutation(s) in | Assessed | HGNC:9905 | ENSG00000265241 | 605313 | 1q21.1 | RNA binding motif protein 8A | 22366785[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
34 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001928 | Abnormality of coagulation | |
| HP:0003974 | Absent radius | |
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0006498 | Aplasia/Hypoplasia of the patella | |
| HP:0006495 | Aplasia/Hypoplasia of the ulna | |
| HP:0006507 | Aplasia/hypoplasia of the humerus | |
| HP:0000337 | Broad forehead | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002673 | Coxa valga | |
| HP:0002970 | Genu varum | |
| HP:0000348 | High forehead | |
| HP:0002827 | Hip dislocation | |
| HP:0002999 | Patellar dislocation | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0100694 | Tibial torsion | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0001181 | Adducted thumb | |
| HP:0000151 | Aplasia of the uterus | |
| HP:0004717 | Axial malrotation of the kidney | |
| HP:0011304 | Broad thumb | |
| HP:0000891 | Cervical ribs | |
| HP:0000175 | Cleft palate | |
| HP:0002990 | Fibular aplasia | |
| HP:0006101 | Finger syndactyly | |
| HP:0002949 | Fused cervical vertebrae | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000347 | Micrognathia | |
| HP:0007413 | Nevus flammeus of the forehead | |
| HP:0009829 | Phocomelia | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001636 | Tetralogy of Fallot | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3320
- This record as JSON: /data/d/3320.json