PedAM

Pediatric Disease Annotations & Medicines


	thrombocytopenia-absent radius syndrome

Disease ID	1649
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 absent radius syndrome thrombocytopenia with absent radii (tar) syndrome thrombocytopenia with absent radius syndrome thrombocytopenia-absent radii syndrome
OMIM	OMIM:274000
DOID	DOID:14699
UMLS	C0175703
SNOMED-CT	SNOMEDCT_US_2016_09_01:85589009
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) CHD1L \| 9557 \| GHR HYDIN \| 54768 \| GHR ACP6 \| 51205 \| GHR RBM8A \| 9939 \| CLINVAR;CTD_human;ORPHANET;GHR FMO5 \| 2330 \| GHR GJA8 \| 2703 \| GHR GJA5 \| 2702 \| GHR PRKAB2 \| 5565 \| GHR GPR89B \| 51463 \| GHR BCL9 \| 607 \| GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:19) 7066 \| THPO \| DISEASES 7043 \| TGFB3 \| DISEASES 8195 \| MKKS \| DISEASES 23314 \| SATB2 \| DISEASES 1836 \| SLC26A2 \| DISEASES 3265 \| HRAS \| DISEASES 811 \| CALR \| DISEASES 2253 \| FGF8 \| DISEASES 2811 \| GP1BA \| DISEASES 9939 \| RBM8A \| DISEASES 8328 \| GFI1B \| DISEASES 4352 \| MPL \| DISEASES 2022 \| ENG \| DISEASES 22852 \| ANKRD26 \| DISEASES 2623 \| GATA1 \| DISEASES 3717 \| JAK2 \| DISEASES 87 \| ACTN1 \| DISEASES 2260 \| FGFR1 \| DISEASES 23218 \| NBEAL2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1649
Disease	thrombocytopenia-absent radius syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:34) HP:0000407 \| Sensorineural hearing impairment HP:0000891 \| Cervical ribs HP:0009829 \| Phocomelia HP:0001636 \| Tetralogy of Fallot HP:0006495 \| Aplasia/Hypoplasia of the ulna HP:0006101 \| Finger syndactyly HP:0000085 \| Horseshoe kidney HP:0000077 \| Abnormality of the kidney HP:0000151 \| Aplasia of the uterus HP:0000347 \| Micrognathia HP:0002999 \| Patellar dislocation HP:0011304 \| Broad thumb HP:0002827 \| Hip dislocation HP:0002673 \| Coxa valga HP:0004209 \| Clinodactyly of the 5th finger HP:0006498 \| Aplasia/Hypoplasia of the patella HP:0004717 \| Axial malrotation of the kidney HP:0001873 \| Thrombocytopenia HP:0100694 \| Tibial torsion HP:0000348 \| High forehead HP:0007413 \| Nevus flammeus of the forehead HP:0002990 \| Fibular aplasia HP:0000119 \| Abnormality of the genitourinary system HP:0000368 \| Low-set, posteriorly rotated ears HP:0001181 \| Adducted thumb HP:0002650 \| Scoliosis HP:0002949 \| Fused cervical vertebrae HP:0003974 \| Absent radius HP:0002970 \| Genu varum HP:0000337 \| Broad forehead HP:0001928 \| Abnormality of coagulation HP:0000175 \| Cleft palate HP:0006507 \| Aplasia/hypoplasia of the humerus HP:0001671 \| Abnormality of the cardiac septa
Text Mined Phenotype	(Waiting for update.)

Disease ID	1649
Disease	thrombocytopenia-absent radius syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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)
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Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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