MCID: THR009
MIFTS: 41

Thrombocytopenia-Absent Radius Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Blood diseases

Aliases & Classifications for Thrombocytopenia-Absent Radius Syndrome

Aliases & Descriptions for Thrombocytopenia-Absent Radius Syndrome:

Name: Thrombocytopenia-Absent Radius Syndrome 54 12 24 25 56 13 14
Tar Syndrome 23 50 24 25 56
Thrombocytopenia Absent Radius Syndrome 23 50 24
Tetraphocomelia-Thrombocytopenia Syndrome 24 69
Radial Aplasia-Thrombocytopenia Syndrome 12 25
Radial Aplasia Thrombocytopenia Syndrome 24 29
Absent Radii and Thrombocytopenia 50 42
Thrombocytopenia Absent Radii 50 25
Radial Aplasia Amegakaryocytic Thrombocytopenia 24
Radial Aplasia-Amegakaryocytic Thrombocytopenia 25
Thrombocytopenia with Absent Radii Syndrome 12
Chromosome 1q21.1 Deletion Syndrome, 200-Kb 25
Thrombocytopenia Absent Radii Syndrome 24
Chromosome 1q21.1 Deletion Syndrome 12

Characteristics:

Orphanet epidemiological data:

56
thrombocytopenia-absent radius syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

GeneReviews:

23
thrombocytopenia-absent radius syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


GeneReviews:

23
Penetrance Penetrance appears to be complete in individuals who have biallelic rbm8a pathogenic variants...

Classifications:



External Ids:

OMIM 54 274000
Disease Ontology 12 DOID:14699
ICD10 33 Q87.2
MeSH 42 C536940
NCIt 47 C99038
SNOMED-CT 64 85589009
Orphanet 56 ORPHA3320
UMLS via Orphanet 70 C0175703
ICD10 via Orphanet 34 Q87.2
UMLS 69 C0175703

Summaries for Thrombocytopenia-Absent Radius Syndrome

NIH Rare Diseases : 50 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. last updated: 3/26/2012

MalaCards based summary : Thrombocytopenia-Absent Radius Syndrome, also known as tar syndrome, is related to chromosome 1q21.1 deletion syndrome and chromosome 1q21.1 deletion syndrome, 1.35-mb, and has symptoms including finger syndactyly, scoliosis and sensorineural hearing impairment. An important gene associated with Thrombocytopenia-Absent Radius Syndrome is RBM8A (RNA Binding Motif Protein 8A), and among its related pathways/superpathways is NF-kappaB Signaling. Affiliated tissues include bone, kidney and heart.

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.

OMIM : 54 The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence... (274000) more...

GeneReviews: NBK23758

Related Diseases for Thrombocytopenia-Absent Radius Syndrome

Diseases related to Thrombocytopenia-Absent Radius Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 chromosome 1q21.1 deletion syndrome 12.2
2 chromosome 1q21.1 deletion syndrome, 1.35-mb 12.0
3 storage pool platelet disease 10.8
4 thrombocytopenia 10.7
5 1q21.1 deletion 10.1
6 tetralogy of fallot 9.9
7 pre-eclampsia 9.9
8 severe pre-eclampsia 9.9
9 eclampsia 9.9
10 histiocytosis 9.9
11 tracheal disease 9.7 ANKRD26 MPL RBM8A
12 congenital disorder of glycosylation, type io 9.1 ACTN1 ANKRD26 GFI1B MPL RBM8A

Graphical network of the top 20 diseases related to Thrombocytopenia-Absent Radius Syndrome:



Diseases related to Thrombocytopenia-Absent Radius Syndrome

Symptoms & Phenotypes for Thrombocytopenia-Absent Radius Syndrome

Symptoms by clinical synopsis from OMIM:

274000

Clinical features from OMIM:

274000

Human phenotypes related to Thrombocytopenia-Absent Radius Syndrome:

56 32 (show top 50) (show all 70)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
2 scoliosis 56 32 Occasional (29-5%) HP:0002650
3 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
4 broad thumb 56 32 Occasional (29-5%) HP:0011304
5 cleft palate 56 32 Occasional (29-5%) HP:0000175
6 micrognathia 56 32 Occasional (29-5%) HP:0000347
7 coxa valga 56 32 Frequent (79-30%) HP:0002673
8 horseshoe kidney 56 32 Occasional (29-5%) HP:0000085
9 thrombocytopenia 56 32 Very frequent (99-80%) HP:0001873
10 hip dislocation 56 32 Frequent (79-30%) HP:0002827
11 broad forehead 56 32 Frequent (79-30%) HP:0000337
12 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
13 low-set, posteriorly rotated ears 56 32 Frequent (79-30%) HP:0000368
14 tetralogy of fallot 56 32 Occasional (29-5%) HP:0001636
15 patellar dislocation 56 32 Frequent (79-30%) HP:0002999
16 genu varum 56 32 Frequent (79-30%) HP:0002970
17 high forehead 56 32 Frequent (79-30%) HP:0000348
18 adducted thumb 56 32 Occasional (29-5%) HP:0001181
19 abnormality of the cardiac septa 56 32 Occasional (29-5%) HP:0001671
20 abnormality of coagulation 56 32 Very frequent (99-80%) HP:0001928
21 aplasia/hypoplasia of the patella 56 32 Frequent (79-30%) HP:0006498
22 phocomelia 56 32 Occasional (29-5%) HP:0009829
23 aplasia of the uterus 56 32 Occasional (29-5%) HP:0000151
24 cervical ribs 56 32 Occasional (29-5%) HP:0000891
25 fused cervical vertebrae 56 32 Occasional (29-5%) HP:0002949
26 fibular aplasia 56 32 Occasional (29-5%) HP:0002990
27 absent radius 56 32 Very frequent (99-80%) HP:0003974
28 axial malrotation of the kidney 56 32 Occasional (29-5%) HP:0004717
29 aplasia/hypoplasia of the ulna 56 32 Frequent (79-30%) HP:0006495
30 aplasia/hypoplasia of the humerus 56 32 Frequent (79-30%) HP:0006507
31 nevus flammeus of the forehead 56 32 Occasional (29-5%) HP:0007413
32 tibial torsion 56 32 Frequent (79-30%) HP:0100694
33 seizures 32 HP:0001250
34 hepatosplenomegaly 32 HP:0001433
35 malar flattening 32 HP:0000272
36 ptosis 32 HP:0000508
37 intellectual disability 32 HP:0001249
38 global developmental delay 32 HP:0001263
39 anteverted nares 32 HP:0000463
40 short stature 32 HP:0004322
41 brachycephaly 32 HP:0000248
42 anemia 32 HP:0001903
43 strabismus 32 HP:0000486
44 carpal bone hypoplasia 32 HP:0001498
45 coarctation of aorta 32 HP:0001680
46 decreased antibody level in blood 32 HP:0004313
47 cerebellar hypoplasia 32 HP:0001321
48 abnormality of the kidney 56 Occasional (29-5%)
49 pancreatic cysts 32 HP:0001737
50 seborrheic dermatitis 32 HP:0001051

Drugs & Therapeutics for Thrombocytopenia-Absent Radius Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
2 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274

Search NIH Clinical Center for Thrombocytopenia-Absent Radius Syndrome

Cochrane evidence based reviews: absent radii and thrombocytopenia

Genetic Tests for Thrombocytopenia-Absent Radius Syndrome

Genetic tests related to Thrombocytopenia-Absent Radius Syndrome:

id Genetic test Affiliating Genes
1 Radial Aplasia-Thrombocytopenia Syndrome 29
2 Thrombocytopenia Absent Radius Syndrome 24 RBM8A

Anatomical Context for Thrombocytopenia-Absent Radius Syndrome

MalaCards organs/tissues related to Thrombocytopenia-Absent Radius Syndrome:

39
Bone, Kidney, Heart, Bone Marrow, Brain, Uterus

Publications for Thrombocytopenia-Absent Radius Syndrome

Articles related to Thrombocytopenia-Absent Radius Syndrome:

(show all 32)
id Title Authors Year
1
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing. ( 27320760 )
2016
2
Thrombocytopenia-absent radius syndrome: prenatal diagnosis of a rare syndrome. ( 27141140 )
2016
3
Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome. ( 25708036 )
2015
4
Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association. ( 25908903 )
2015
5
First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality. ( 24556603 )
2014
6
Total knee arthroplasty in a patient with thrombocytopenia-absent radius syndrome. ( 25275986 )
2014
7
Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. ( 21771154 )
2012
8
Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes. ( 22201559 )
2012
9
Thrombocytopenia absent radius syndrome. ( 21885665 )
2011
10
Langerhans cell histiocytosis in a pediatric patient with thrombocytopenia-absent radius syndrome and 1q21.1 deletion: case report and proposal of a rapid molecular diagnosis of 1q21.1 deletion. ( 21428712 )
2011
11
Thrombocytopenia-absent radius syndrome. ( 22102274 )
2011
12
Exacerbation of thrombocytopenia in a pregnant woman with thrombocytopenia-absent radius syndrome. ( 21530967 )
2011
13
Mitral valve repair in a patient with thrombocytopenia-absent radius syndrome: case report. ( 20961838 )
2010
14
Thrombocytopenia absent radius syndrome: presence of brachiocarpalis muscle and its importance. ( 19773129 )
2009
15
Maternal thrombocytopenia-absent radius syndrome complicated by severe pre-eclampsia. ( 19253167 )
2009
16
Management of a parturient with thrombocytopenia-absent-radius syndrome undergoing urgent caesarean section. ( 18162204 )
2008
17
Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1. ( 17847015 )
2007
18
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. ( 17236129 )
2007
19
Thumb function and appearance in thrombocytopenia: absent radius syndrome. ( 17275588 )
2007
20
Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis. ( 15995562 )
2005
21
Increased nuchal translucency thickness in thrombocytopenia-absent-radius syndrome. ( 16184503 )
2005
22
Mayer-Rokitansky-KA1ster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome. ( 15705390 )
2005
23
Brief psychosis in thrombocytopenia-absent radius syndrome: a case report. ( 16168045 )
2005
24
Thrombocytopenia-absent radius syndrome: a clinical genetic study. ( 12471199 )
2002
25
Radiology case of the month. Congenital limb and bleeding disorder. Thrombocytopenia absent radius syndrome (TAR). ( 11125506 )
2000
26
Prenatal diagnosis of thrombocytopenia-absent radius syndrome. ( 8739592 )
1996
27
Thrombocytopenia absent radius syndrome and knee deformity. ( 7670996 )
1995
28
Thrombocytopenia Absent Radius Syndrome ( 20301781 )
1993
29
Thrombocytopenia absent radius syndrome associated with renal insufficiency. ( 2407410 )
1990
30
Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis. ( 2179938 )
1990
31
Prenatal diagnosis of thrombocytopenia absent radius syndrome using ultrasound and fetoscopy. ( 6739436 )
1984
32
Thrombocytopenia, absent radius syndrome: report of two siblings and a review of the hematologic and genetic features. ( 7067207 )
1982

Variations for Thrombocytopenia-Absent Radius Syndrome

ClinVar genetic disease variations for Thrombocytopenia-Absent Radius Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 nsv491550 deletion Pathogenic
2 RBM8A NM_005105.4(RBM8A): c.-21G> A single nucleotide variant Pathogenic rs139428292 GRCh37 Chromosome 1, 145507646: 145507646
3 RBM8A NM_005105.4(RBM8A): c.67+32G> C single nucleotide variant Pathogenic/Likely pathogenic rs201779890 GRCh38 Chromosome 1, 145927328: 145927328
4 RBM8A NM_005105.4(RBM8A): c.207_208insAGCG (p.Val70Serfs) insertion Pathogenic rs397515388 GRCh37 Chromosome 1, 145508476: 145508477
5 RBM8A NM_005105.4(RBM8A): c.487C> T (p.Arg163Ter) single nucleotide variant Pathogenic rs397515389 GRCh37 Chromosome 1, 145509173: 145509173
6 covers 13 genes, none of which curated to show dosage sensitivity NC_000001.10 deletion Pathogenic GRCh37 Chromosome 1, 145413072: 145596903

Copy number variations for Thrombocytopenia-Absent Radius Syndrome from CNVD:

7 (show all 14)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13817 1 1 7100000 Microdeletion TAR Syndrome
2 17317 1 142400000 148000000 Microdeletion TAR Syndrome
3 17318 1 142400000 148000000 Microdeletion ANKRD35 Thrombocytopenia-absent radius syndrome
4 17319 1 142400000 148000000 Microdeletion GNRR2 Thrombocytopenia-absent radius syndrome
5 17320 1 142400000 148000000 Microdeletion HFE2 Thrombocytopenia-absent radius syndrome
6 17321 1 142400000 148000000 Microdeletion ITGA10 Thrombocytopenia-absent radius syndrome
7 17322 1 142400000 148000000 Microdeletion LIX1L Thrombocytopenia-absent radius syndrome
8 17323 1 142400000 148000000 Microdeletion PEX11B Thrombocytopenia-absent radius syndrome
9 17324 1 142400000 148000000 Microdeletion PIAS3 Thrombocytopenia-absent radius syndrome
10 17325 1 142400000 148000000 Microdeletion POLR3GL Thrombocytopenia-absent radius syndrome
11 17326 1 142400000 148000000 Microdeletion RBM8A Thrombocytopenia-absent radius syndrome
12 17327 1 142400000 148000000 Microdeletion TXNIP Thrombocytopenia-absent radius syndrome
13 20076 1 15300000 153300000 Microdeletion Thrombocytopenia-absent radius syndrome
14 112064 17 37800000 47600000 Microdeletion TAR Syndrome

Expression for Thrombocytopenia-Absent Radius Syndrome

Search GEO for disease gene expression data for Thrombocytopenia-Absent Radius Syndrome.

Pathways for Thrombocytopenia-Absent Radius Syndrome

Pathways related to Thrombocytopenia-Absent Radius Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.12 GFI1B MPL

GO Terms for Thrombocytopenia-Absent Radius Syndrome

Sources for Thrombocytopenia-Absent Radius Syndrome

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