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

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Aliases & Descriptions for Thrombocytopenia-Absent Radius Syndrome:

Name: Thrombocytopenia-Absent Radius Syndrome 52 11 24 25 54 12 13
Tar Syndrome 23 48 24 25 54
Thrombocytopenia Absent Radius Syndrome 23 48 24
Tetraphocomelia-Thrombocytopenia Syndrome 24 68
Radial Aplasia Thrombocytopenia Syndrome 24 27
Radial Aplasia-Thrombocytopenia Syndrome 11 25
Absent Radii and Thrombocytopenia 48 39
 
Thrombocytopenia Absent Radii 48 25
Radial Aplasia Amegakaryocytic Thrombocytopenia 24
Radial Aplasia-Amegakaryocytic Thrombocytopenia 25
Thrombocytopenia with Absent Radii Syndrome 11
Chromosome 1q21.1 Deletion Syndrome, 200-Kb 25
Thrombocytopenia Absent Radii Syndrome 24
Chromosome 1q21.1 Deletion Syndrome 11

Characteristics:

Orphanet epidemiological data:

54
thrombocytopenia-absent radius syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

64
thrombocytopenia-absent radius syndrome:
Inheritance: autosomal recessive inheritance
Mortality/Aging: death in infancy

GeneReviews:

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


Classifications:



External Ids:

OMIM52 274000
Disease Ontology11 DOID:14699
ICD1030 Q87.2
MeSH39 C536940
SNOMED-CT62 85589009
NCIt45 C99038
Orphanet54 ORPHA3320
UMLS via Orphanet69 C0175703
ICD10 via Orphanet31 Q87.2

Summaries for Thrombocytopenia-Absent Radius Syndrome

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NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Thrombocytopenia-Absent Radius Syndrome is RBM8A (RNA Binding Motif Protein 8A), and among its related pathways 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:52 The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence... (274000) more...

GeneReviews for NBK23758

Related Diseases for Thrombocytopenia-Absent Radius Syndrome

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1chromosome 1q21.1 deletion syndrome12.2
2chromosome 1q21.1 deletion syndrome, 1.35-mb12.0
3storage pool platelet disease10.8
4thrombocytopenia10.7
51q21.1 deletion10.1
6tetralogy of fallot9.9
7pre-eclampsia9.9
8severe pre-eclampsia9.9
9eclampsia9.9
10histiocytosis9.9
11tracheal disease9.7ANKRD26, MPL, RBM8A
12congenital disorder of glycosylation, type io9.1ACTN1, ANKRD26, GFI1B, MPL, RBM8A

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



Diseases related to thrombocytopenia-absent radius syndrome

Symptoms & Phenotypes for Thrombocytopenia-Absent Radius Syndrome

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Symptoms by clinical synopsis from OMIM:

274000

Clinical features from OMIM:

274000

Human phenotypes related to Thrombocytopenia-Absent Radius Syndrome:

 54 64 (show all 70)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the kidney54 Occasional (29-5%)
2 horseshoe kidney64 54 Occasional (29-5%) HP:0000085
3 abnormality of the genitourinary system54 Occasional (29-5%)
4 aplasia of the uterus64 54 Occasional (29-5%) HP:0000151
5 cleft palate64 54 Occasional (29-5%) HP:0000175
6 broad forehead64 54 Frequent (79-30%) HP:0000337
7 micrognathia64 54 Occasional (29-5%) HP:0000347
8 high forehead64 54 Frequent (79-30%) HP:0000348
9 low-set, posteriorly rotated ears64 54 Frequent (79-30%) HP:0000368
10 sensorineural hearing impairment64 54 Occasional (29-5%) HP:0000407
11 cervical ribs64 54 Occasional (29-5%) HP:0000891
12 adducted thumb64 54 Occasional (29-5%) HP:0001181
13 tetralogy of fallot64 54 Occasional (29-5%) HP:0001636
14 abnormality of the cardiac septa64 54 Occasional (29-5%) HP:0001671
15 thrombocytopenia64 54 Very frequent (99-80%) HP:0001873
16 abnormality of coagulation64 54 Very frequent (99-80%) HP:0001928
17 scoliosis64 54 Occasional (29-5%) HP:0002650
18 coxa valga64 54 Frequent (79-30%) HP:0002673
19 hip dislocation64 54 Frequent (79-30%) HP:0002827
20 fused cervical vertebrae64 54 Occasional (29-5%) HP:0002949
21 genu varum64 54 Frequent (79-30%) HP:0002970
22 fibular aplasia64 54 Occasional (29-5%) HP:0002990
23 patellar dislocation64 54 Frequent (79-30%) HP:0002999
24 absent radius64 54 Very frequent (99-80%) HP:0003974
25 clinodactyly of the 5th finger64 54 Frequent (79-30%) HP:0004209
26 axial malrotation of the kidney64 54 Occasional (29-5%) HP:0004717
27 finger syndactyly64 54 Occasional (29-5%) HP:0006101
28 aplasia/hypoplasia of the ulna64 54 Frequent (79-30%) HP:0006495
29 aplasia/hypoplasia of the patella64 54 Frequent (79-30%) HP:0006498
30 aplasia/hypoplasia of the humerus64 54 Frequent (79-30%) HP:0006507
31 nevus flammeus of the forehead64 54 Occasional (29-5%) HP:0007413
32 phocomelia64 54 Occasional (29-5%) HP:0009829
33 broad thumb64 54 Occasional (29-5%) HP:0011304
34 tibial torsion64 54 Frequent (79-30%) HP:0100694
35 brachycephaly64 HP:0000248
36 malar flattening64 HP:0000272
37 anteverted nares64 HP:0000463
38 strabismus64 HP:0000486
39 ptosis64 HP:0000508
40 lateral clavicle hook64 HP:0000895
41 seborrheic dermatitis64 HP:0001051
42 intellectual disability64 HP:0001249
43 seizures64 HP:0001250
44 global developmental delay64 HP:0001263
45 motor delay64 HP:0001270
46 cerebellar hypoplasia64 HP:0001321
47 hepatosplenomegaly64 HP:0001433
48 carpal bone hypoplasia64 HP:0001498
49 ventricular septal defect64 HP:0001629
50 atrial septal defect64 HP:0001631
51 coarctation of aorta64 HP:0001680
52 pancreatic cysts64 HP:0001737
53 talipes equinovarus64 HP:0001762
54 eosinophilia64 HP:0001880
55 anemia64 HP:0001903
56 delayed cns myelination64 HP:0002188
57 meckel diverticulum64 HP:0002245
58 cavum septum pellucidum64 HP:0002389
59 spina bifida64 HP:0002414
60 abnormality of the shoulder64 HP:0003043
61 decreased antibody level in blood64 HP:0004313
62 short stature64 HP:0004322
63 bilateral radial aplasia64 HP:0004977
64 patellar aplasia64 HP:0006443
65 edema of the dorsum of hands64 HP:0007514
66 shoulder muscle hypoplasia64 HP:0008952
67 carpal synostosis64 HP:0009702
68 short phalanx of finger64 HP:0009803
69 edema of the dorsum of feet64 HP:0012098
70 cow milk allergy64 HP:0100327

Drugs & Therapeutics for Thrombocytopenia-Absent Radius Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Megakaryocytes From Patients With Abnormal Platelet VesiclesCompletedNCT00086476
2Cancer in Inherited Bone Marrow Failure SyndromesRecruitingNCT00027274

Search NIH Clinical Center for Thrombocytopenia-Absent Radius Syndrome


Cochrane evidence based reviews: absent radii and thrombocytopenia

Genetic Tests for Thrombocytopenia-Absent Radius Syndrome

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Genetic tests related to Thrombocytopenia-Absent Radius Syndrome:

id Genetic test Affiliating Genes
1 Radial Aplasia-Thrombocytopenia Syndrome27
2 Thrombocytopenia Absent Radius Syndrome24 RBM8A

Anatomical Context for Thrombocytopenia-Absent Radius Syndrome

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

36
Bone, Kidney, Heart, Brain, Bone marrow, Uterus

Publications for Thrombocytopenia-Absent Radius Syndrome

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Articles related to Thrombocytopenia-Absent Radius Syndrome:

(show all 32)
idTitleAuthorsYear
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

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Clinvar genetic disease variations for Thrombocytopenia-Absent Radius Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1nsv491550deletionPathogenic
2RBM8ANM_ 005105.4(RBM8A): c.-21G> ASNVPathogenicrs139428292GRCh37Chr 1, 145507646: 145507646
3RBM8ANM_ 005105.4(RBM8A): c.67+32G> CSNVPathogenic/ Likely pathogenicrs201779890GRCh38Chr 1, 145927328: 145927328
4RBM8ANM_ 005105.4(RBM8A): c.207_ 208insAGCG (p.Val70Serfs)insertionPathogenicrs397515388GRCh37Chr 1, 145508476: 145508477
5RBM8ANM_ 005105.4(RBM8A): c.487C> T (p.Arg163Ter)SNVPathogenicrs397515389GRCh37Chr 1, 145509173: 145509173
6covers 13 genes, none of which curated to show dosage sensitivityNC_ 000001.10: g.(?_ 145413072)_ (145592772_ 145596903)deldeletionPathogenicGRCh37Chr 1, 145413072: 145596903

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

6 (show all 14)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
113817117100000MicrodeletionTAR Syndrome
2173171142400000148000000MicrodeletionTAR Syndrome
3173181142400000148000000MicrodeletionANKRD35Thrombocytopenia-absent radius syndrome
4173191142400000148000000MicrodeletionGNRR2Thrombocytopenia-absent radius syndrome
5173201142400000148000000MicrodeletionHFE2Thrombocytopenia-absent radius syndrome
6173211142400000148000000MicrodeletionITGA10Thrombocytopenia-absent radius syndrome
7173221142400000148000000MicrodeletionLIX1LThrombocytopenia-absent radius syndrome
8173231142400000148000000MicrodeletionPEX11BThrombocytopenia-absent radius syndrome
9173241142400000148000000MicrodeletionPIAS3Thrombocytopenia-absent radius syndrome
10173251142400000148000000MicrodeletionPOLR3GLThrombocytopenia-absent radius syndrome
11173261142400000148000000MicrodeletionRBM8AThrombocytopenia-absent radius syndrome
12173271142400000148000000MicrodeletionTXNIPThrombocytopenia-absent radius syndrome
1320076115300000153300000MicrodeletionThrombocytopenia-absent radius syndrome
14112064173780000047600000MicrodeletionTAR Syndrome

Expression for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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

Pathways for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
19.4GFI1B, MPL

GO Terms for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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Sources for Thrombocytopenia-Absent Radius Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet