eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| thrombocytopenia absent radius syndrome | ||||
| Disease ID | 1331 |
|---|---|
| Disease | thrombocytopenia absent radius syndrome |
| Definition | A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radius bone. |
| Synonym | absent radii and thrombocytopenia chromosome 1q21.1 deletion syndrome, 200-kb radial aplasia-amegakaryocytic thrombocytopenia radial aplasia-thrombocytopenia syndrome radial aplasia-thrombocytopenia syndrome (disorder) syndrome tar syndrome tars tar - thrombocytopenia with absent radius syndrome tar syndrome thrombocytopenia absent radii thrombocytopenia with absent radii (tar) syndrome thrombocytopenia with absent radius syndrome thrombocytopenia-absent radii syndrome thrombocytopenia-absent radius syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0175703 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0158699 | renal agenesis | 2 C0019621 | langerhans cell histiocytosis | 1 C1619734 | pulmonary arterial hypertension | 1 C0086543 | cataract | 1 C0020538 | hypertension | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:10) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 87 | ACTN1 | 3.548 | DISEASES 22852 | ANKRD26 | 3.506 | DISEASES 811 | CALR | 1.716 | DISEASES 2022 | ENG | 1.552 | DISEASES 2253 | FGF8 | 2.555 | DISEASES 2260 | FGFR1 | 1.606 | DISEASES 2623 | GATA1 | 1.892 | DISEASES 8328 | GFI1B | 3.573 | DISEASES 2811 | GP1BA | 2.183 | DISEASES 3717 | JAK2 | 1.839 | DISEASES 4352 | MPL | 3.484 | DISEASES 23218 | NBEAL2 | 2.954 | DISEASES 9939 | RBM8A | 5.49 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1331 |
|---|---|
| Disease | thrombocytopenia absent radius syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:19) HP:0000104 | Renal agenesis | 2 HP:0002094 | Dyspnea | 2 HP:0100632 | Pulmonary sequestration | 2 HP:0001643 | Persistent ductus arteriosus | 2 HP:0100749 | Thoracic pain | 1 HP:0000518 | Cataract | 1 HP:0002575 | Tracheoesophageal fistula | 1 HP:0005608 | Double gallbladder | 1 HP:0011278 | Intrapulmonary sequestration | 1 HP:0005775 | Multiple skeletal anomalies | 1 HP:0001669 | Transposition of the great arteries | 1 HP:0030707 | Unilateral pulmonary agenesis | 1 HP:0000822 | Hypertension | 1 HP:0000924 | Abnormality of the skeletal system | 1 HP:0030853 | Heterotaxy | 1 HP:0001636 | Tetrology of fallot | 1 HP:0002089 | Hypoplastic lungs | 1 HP:0001651 | Thoracic situs inversus | 1 HP:0002105 | Hemoptysis | 1 |
| Disease ID | 1331 |
|---|---|
| Disease | thrombocytopenia absent radius syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| 1q21.1 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs139428292 | NA | 9939 | RBM8A | umls:C0175703 | CLINVAR | NA | 0.361628651 | NA | RBM8A;LOC105371260 | 1 | 145927447 | C | T,A |
| rs139428292 | 24769264 | 9939 | RBM8A | umls:C0175703 | BeFree | We concluded that compound inheritance of a rare null allele and one of the two low-frequency noncoding SNPs (rs139428292) in RBM8A are crucial for TAR syndrome. | 0.361628651 | 2014 | RBM8A;LOC105371260 | 1 | 145927447 | C | T,A |
| rs201779890 | NA | 9939 | RBM8A | umls:C0175703 | CLINVAR | NA | 0.361628651 | NA | RBM8A;LOC105371260 | 1 | 145927328 | C | G |
| rs397515388 | NA | 9939 | RBM8A | umls:C0175703 | CLINVAR | NA | 0.361628651 | NA | RBM8A;LOC105371260 | 1 | 145926616 | - | CGCT |
| rs397515389 | NA | 9939 | RBM8A | umls:C0175703 | CLINVAR | NA | 0.361628651 | NA | RBM8A;LOC105371260 | 1 | 145925920 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1331 |
|---|---|
| Disease | thrombocytopenia absent radius syndrome |
| Case | (Waiting for update.) |