MCID: THR009
MIFTS: 54

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 51 11 24 25 53 12 13
Tar Syndrome 23 47 24 25 53
Thrombocytopenia Absent Radius Syndrome 23 47 24
Tetraphocomelia-Thrombocytopenia Syndrome 24 67
Radial Aplasia Thrombocytopenia Syndrome 24 26
Radial Aplasia-Thrombocytopenia Syndrome 11 25
Absent Radii and Thrombocytopenia 47 38
 
Thrombocytopenia Absent Radii 47 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:

53
thrombocytopenia-absent radius syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

63
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:

OMIM51 274000
Disease Ontology11 DOID:14699
ICD1029 Q87.2
MeSH38 C536940
SNOMED-CT61 85589009
NCIt44 C99038
Orphanet53 ORPHA3320
UMLS via Orphanet68 C0175703
ICD10 via Orphanet30 Q87.2

Summaries for Thrombocytopenia-Absent Radius Syndrome

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NIH Rare Diseases:47 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 bilateral radial aplasia, thrombocytopenia and abnormality of coagulation. An important gene associated with Thrombocytopenia-Absent Radius Syndrome is RBM8A (RNA Binding Motif Protein 8A), and among its related pathways are Integrin alphaIIb beta3 signaling and FGFR1 mutant receptor activation. Affiliated tissues include bone, kidney and bone marrow, and related mouse phenotypes are limbs/digits/tail and respiratory system.

Genetics Home Reference:25 Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm. Affected individuals also have a shortage (deficiency) of blood cells 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:51 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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Graphical network of the top 20 diseases related to Thrombocytopenia-Absent Radius Syndrome:



Diseases related to thrombocytopenia-absent radius syndrome

Symptoms 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:

 63 53 (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bilateral radial aplasia63 obligate (100%) HP:0004977
2 thrombocytopenia63 53 hallmark (90%) Very frequent (99-80%) HP:0001873
3 abnormality of coagulation63 53 hallmark (90%) Very frequent (99-80%) HP:0001928
4 aplasia/hypoplasia of the ulna63 53 hallmark (90%) Frequent (79-30%) HP:0006495
5 eosinophilia63 common (75%) HP:0001880
6 coxa valga63 53 common (75%) Frequent (79-30%) HP:0002673
7 hip dislocation63 53 common (75%) Frequent (79-30%) HP:0002827
8 genu varum63 53 common (75%) Frequent (79-30%) HP:0002970
9 clinodactyly of the 5th finger63 53 common (75%) Frequent (79-30%) HP:0004209
10 patellar aplasia63 common (75%) HP:0006443
11 cow milk allergy63 common (75%) HP:0100327
12 broad forehead63 53 typical (50%) Frequent (79-30%) HP:0000337
13 high forehead63 53 typical (50%) Frequent (79-30%) HP:0000348
14 low-set, posteriorly rotated ears63 53 typical (50%) Frequent (79-30%) HP:0000368
15 adducted thumb63 53 typical (50%) Occasional (29-5%) HP:0001181
16 abnormality of the intestine63 typical (50%) HP:0002242
17 patellar dislocation63 53 typical (50%) Frequent (79-30%) HP:0002999
18 aplasia/hypoplasia of the humerus63 53 typical (50%) Frequent (79-30%) HP:0006507
19 broad thumb63 53 typical (50%) Occasional (29-5%) HP:0011304
20 anemia63 frequent (33%) HP:0001903
21 abnormality of the cardiac septa63 53 15% Occasional (29-5%) HP:0001671
22 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
23 malar flattening63 occasional (7.5%) HP:0000272
24 micrognathia63 53 occasional (7.5%) Occasional (29-5%) HP:0000347
25 sensorineural hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000407
26 strabismus63 occasional (7.5%) HP:0000486
27 ptosis63 occasional (7.5%) HP:0000508
28 lateral clavicle hook63 occasional (7.5%) HP:0000895
29 global developmental delay63 occasional (7.5%) HP:0001263
30 cerebellar hypoplasia63 occasional (7.5%) HP:0001321
31 hepatosplenomegaly63 occasional (7.5%) HP:0001433
32 carpal bone hypoplasia63 occasional (7.5%) HP:0001498
33 tetralogy of fallot63 53 occasional (7.5%) Occasional (29-5%) HP:0001636
34 talipes equinovarus63 occasional (7.5%) HP:0001762
35 delayed cns myelination63 occasional (7.5%) HP:0002188
36 cavum septum pellucidum63 occasional (7.5%) HP:0002389
37 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
38 abnormality of the shoulder63 occasional (7.5%) HP:0003043
39 finger syndactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0006101
40 nevus flammeus of the forehead63 53 occasional (7.5%) Occasional (29-5%) HP:0007413
41 edema of the dorsum of hands63 occasional (7.5%) HP:0007514
42 short phalanx of finger63 occasional (7.5%) HP:0009803
43 phocomelia63 53 occasional (7.5%) Occasional (29-5%) HP:0009829
44 edema of the dorsum of feet63 occasional (7.5%) HP:0012098
45 abnormal localization of kidney63 occasional (7.5%) HP:0100542
46 tibial torsion63 53 occasional (7.5%) Frequent (79-30%) HP:0100694
47 short stature63 7% HP:0004322
48 aplasia of the uterus63 53 rare (5%) Occasional (29-5%) HP:0000151
49 cervical ribs63 53 rare (5%) Occasional (29-5%) HP:0000891
50 coarctation of aorta63 rare (5%) HP:0001680
51 fused cervical vertebrae63 53 rare (5%) Occasional (29-5%) HP:0002949
52 fibular aplasia63 53 rare (5%) Occasional (29-5%) HP:0002990
53 axial malrotation of the kidney63 53 rare (5%) Occasional (29-5%) HP:0004717
54 horseshoe kidney63 53 Occasional (29-5%) HP:0000085
55 brachycephaly63 HP:0000248
56 anteverted nares63 HP:0000463
57 seborrheic dermatitis63 HP:0001051
58 seizures63 HP:0001250
59 motor delay63 HP:0001270
60 ventricular septal defect63 HP:0001629
61 atria septal defect63 HP:0001631
62 pancreatic cysts63 HP:0001737
63 meckel diverticulum63 HP:0002245
64 spina bifida63 HP:0002414
65 decreased antibody level in blood63 HP:0004313
66 shoulder muscle hypoplasia63 HP:0008952
67 carpal synostosis63 HP:0009702
68 abnormality of the kidney53 Occasional (29-5%)
69 abnormality of the genitourinary system53 Occasional (29-5%)
70 absent radius53 Very frequent (99-80%)
71 aplasia/hypoplasia of the patella53 Frequent (79-30%)

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 Syndrome26
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:

35
Bone, Kidney, Bone marrow, Brain, Heart, Uterus

Animal Models for Thrombocytopenia-Absent Radius Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Thrombocytopenia-Absent Radius Syndrome:

40 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.3FGF8, FGFR1, MKKS, SALL4, SATB2, SLC26A2
2MP:00053888.2ENG, FGF8, GATA1, HRAS, MKKS, SATB2
3MP:00053827.5ENG, FGF8, FGFR1, HRAS, MKKS, SALL4
4MP:00053977.3ENG, FGF8, FGFR1, GATA1, GFI1B, GP1BA
5MP:00053806.8ENG, FGF8, FGFR1, GATA1, GFI1B, MPL
6MP:00053906.6FGF8, FGFR1, GATA1, HRAS, NBEAL2, SALL4
7MP:00053846.6FGF8, FGFR1, GATA1, GFI1B, GP1BA, MKKS
8MP:00053856.4ANKRD26, ENG, FGF8, FGFR1, GATA1, GFI1B
9MP:00053786.0ANKRD26, ENG, FGF8, FGFR1, GATA1, HRAS
10MP:00107685.9ENG, FGF8, FGFR1, GATA1, GFI1B, HRAS
11MP:00053765.8ANKRD26, ENG, FGF8, FGFR1, GATA1, GFI1B

Publications for Thrombocytopenia-Absent Radius Syndrome

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Articles related to Thrombocytopenia-Absent Radius Syndrome:

(show all 32)
idTitleAuthorsYear
1
Thrombocytopenia-absent radius syndrome: prenatal diagnosis of a rare syndrome. (27141140)
2016
2
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing. (27320760)
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
Exacerbation of thrombocytopenia in a pregnant woman with thrombocytopenia-absent radius syndrome. (21530967)
2011
10
Thrombocytopenia-absent radius syndrome. (22102274)
2011
11
Thrombocytopenia absent radius syndrome. (21885665)
2011
12
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
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
Mayer-Rokitansky-KA1ster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome. (15705390)
2005
21
Brief psychosis in thrombocytopenia-absent radius syndrome: a case report. (16168045)
2005
22
Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis. (15995562)
2005
23
Increased nuchal translucency thickness in thrombocytopenia-absent-radius syndrome. (16184503)
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
Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis. (2179938)
1990
30
Thrombocytopenia absent radius syndrome associated with renal insufficiency. (2407410)
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
1nsv491550deletionPathogenicChr na, -1: -1
2RBM8ANM_005105.4(RBM8A): c.-21G> ASNVPathogenicrs139428292GRCh37Chr 1, 145507646: 145507646
3RBM8ANM_005105.4(RBM8A): c.67+32G> CSNVLikely pathogenic, 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_000001.10deletionPathogenicGRCh37Chr 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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GO Terms for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1thrombopoietin-mediated signaling pathwayGO:003816310.5MPL, THPO
2gonad developmentGO:000840610.4FGF8, MKKS
3organ inductionGO:00017599.9FGF8, FGFR1
4generation of neuronsGO:00486999.8FGF8, FGFR1
5branching involved in salivary gland morphogenesisGO:00604459.7FGF8, FGFR1
6salivary gland morphogenesisGO:00074359.7FGFR1, TGFB3
7tissue developmentGO:00098889.7GATA1, SALL4
8heart loopingGO:00019479.6ENG, FGF8, MKKS
9platelet formationGO:00302209.5ACTN1, GATA1, MYH9, NBEAL2
10platelet aggregationGO:00705279.1ACTN1, GATA1, GP1BA, MPL, MYH9
11negative regulation of gene expressionGO:00106298.7ENG, FGFR1, HRAS, MKKS
12heart developmentGO:00075078.3ENG, FGF8, GATA1, MKKS, SALL4
13in utero embryonic developmentGO:00017018.2FGFR1, GATA1, MYH9, SALL4, TGFB3
14positive regulation of transcription from RNA polymerase II promoterGO:00459447.8ENG, GATA1, HRAS, SALL4, SATB2, TGFB3

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

idNameGO IDScoreTop Affiliating Genes
1type I transforming growth factor beta receptor bindingGO:00347139.5ENG, TGFB3
2transforming growth factor beta bindingGO:00504319.4ENG, TGFB3
3type II transforming growth factor beta receptor bindingGO:00051149.3ENG, TGFB3

Sources for Thrombocytopenia-Absent Radius Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet