MCID: THR009
MIFTS: 52

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 50 11 23 24 13 52 12
Tar Syndrome 46 23 24 52
Thrombocytopenia Absent Radius Syndrome 22 46 23
Tetraphocomelia-Thrombocytopenia Syndrome 23 66
Radial Aplasia Thrombocytopenia Syndrome 23 25
Radial Aplasia-Thrombocytopenia Syndrome 11 24
Absent Radii and Thrombocytopenia 46 37
 
Thrombocytopenia Absent Radii 46 24
Radial Aplasia Amegakaryocytic Thrombocytopenia 23
Radial Aplasia-Amegakaryocytic Thrombocytopenia 24
Thrombocytopenia with Absent Radii Syndrome 11
Chromosome 1q21.1 Deletion Syndrome, 200-Kb 24
Thrombocytopenia Absent Radii Syndrome 23
Chromosome 1q21.1 Deletion Syndrome 11

Characteristics:

Orphanet epidemiological data:

52
thrombocytopenia-absent radius syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

62
thrombocytopenia-absent radius syndrome:
Mortality/Aging: death in infancy
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 274000
Disease Ontology11 DOID:14699
ICD1028 Q87.2
MeSH37 C536940
SNOMED-CT60 85589009
NCIt43 C99038
Orphanet52 ORPHA3320
ICD10 via Orphanet29 Q87.2
UMLS via Orphanet67 C0175703

Summaries for Thrombocytopenia-Absent Radius Syndrome

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NIH Rare Diseases:46 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 Jak-STAT signaling pathway and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone, kidney and bone marrow, and related mouse phenotypes are craniofacial and respiratory system.

Genetics Home Reference:24 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:50 The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence... (274000) more...

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

Symptoms:

 52 (show all 34)
  • abnormality of the kidney
  • horseshoe kidney
  • abnormality of the genitourinary system
  • aplasia of the uterus
  • cleft palate
  • broad forehead
  • micrognathia
  • high forehead
  • low-set, posteriorly rotated ears
  • sensorineural hearing impairment
  • cervical ribs
  • adducted thumb
  • tetralogy of fallot
  • abnormality of the cardiac septa
  • thrombocytopenia
  • abnormality of coagulation
  • scoliosis
  • coxa valga
  • hip dislocation
  • fused cervical vertebrae
  • genu varum
  • fibular aplasia
  • patellar dislocation
  • absent radius
  • clinodactyly of the 5th finger
  • axial malrotation of the kidney
  • finger syndactyly
  • aplasia/hypoplasia of the ulna
  • aplasia/hypoplasia of the patella
  • aplasia/hypoplasia of the humerus
  • nevus flammeus of the forehead
  • phocomelia
  • broad thumb
  • tibial torsion

HPO human phenotypes related to Thrombocytopenia-Absent Radius Syndrome:

(show all 75)
id Description Frequency HPO Source Accession
1 bilateral radial aplasia obligate (100%) HP:0004977
2 thrombocytopenia hallmark (90%) HP:0001873
3 abnormality of coagulation hallmark (90%) HP:0001928
4 aplasia/hypoplasia of the ulna hallmark (90%) HP:0006495
5 eosinophilia common (75%) HP:0001880
6 coxa valga common (75%) HP:0002673
7 hip dislocation common (75%) HP:0002827
8 genu varum common (75%) HP:0002970
9 clinodactyly of the 5th finger common (75%) HP:0004209
10 patellar aplasia common (75%) HP:0006443
11 cow milk allergy common (75%) HP:0100327
12 thrombocytopenia 66% HP:0001873
13 broad forehead typical (50%) HP:0000337
14 high forehead typical (50%) HP:0000348
15 low-set, posteriorly rotated ears typical (50%) HP:0000368
16 adducted thumb typical (50%) HP:0001181
17 abnormality of the intestine typical (50%) HP:0002242
18 genu varum typical (50%) HP:0002970
19 patellar dislocation typical (50%) HP:0002999
20 clinodactyly of the 5th finger typical (50%) HP:0004209
21 patellar aplasia typical (50%) HP:0006443
22 aplasia/hypoplasia of the humerus typical (50%) HP:0006507
23 broad thumb typical (50%) HP:0011304
24 anemia frequent (33%) HP:0001903
25 abnormality of the cardiac septa 15% HP:0001671
26 cleft palate occasional (7.5%) HP:0000175
27 malar flattening occasional (7.5%) HP:0000272
28 micrognathia occasional (7.5%) HP:0000347
29 sensorineural hearing impairment occasional (7.5%) HP:0000407
30 strabismus occasional (7.5%) HP:0000486
31 ptosis occasional (7.5%) HP:0000508
32 lateral clavicle hook occasional (7.5%) HP:0000895
33 adducted thumb occasional (7.5%) HP:0001181
34 global developmental delay occasional (7.5%) HP:0001263
35 cerebellar hypoplasia occasional (7.5%) HP:0001321
36 hepatosplenomegaly occasional (7.5%) HP:0001433
37 carpal bone hypoplasia occasional (7.5%) HP:0001498
38 tetralogy of fallot occasional (7.5%) HP:0001636
39 abnormality of the cardiac septa occasional (7.5%) HP:0001671
40 talipes equinovarus occasional (7.5%) HP:0001762
41 delayed cns myelination occasional (7.5%) HP:0002188
42 cavum septum pellucidum occasional (7.5%) HP:0002389
43 scoliosis occasional (7.5%) HP:0002650
44 patellar dislocation occasional (7.5%) HP:0002999
45 abnormality of the shoulder occasional (7.5%) HP:0003043
46 finger syndactyly occasional (7.5%) HP:0006101
47 nevus flammeus of the forehead occasional (7.5%) HP:0007413
48 edema of the dorsum of hands occasional (7.5%) HP:0007514
49 short phalanx of finger occasional (7.5%) HP:0009803
50 phocomelia occasional (7.5%) HP:0009829
51 edema of the dorsum of feet occasional (7.5%) HP:0012098
52 abnormal localization of kidney occasional (7.5%) HP:0100542
53 tibial torsion occasional (7.5%) HP:0100694
54 short stature 7% HP:0004322
55 aplasia of the uterus rare (5%) HP:0000151
56 cervical ribs rare (5%) HP:0000891
57 coarctation of aorta rare (5%) HP:0001680
58 fused cervical vertebrae rare (5%) HP:0002949
59 fibular aplasia rare (5%) HP:0002990
60 axial malrotation of the kidney rare (5%) HP:0004717
61 horseshoe kidney HP:0000085
62 brachycephaly HP:0000248
63 micrognathia HP:0000347
64 anteverted nares HP:0000463
65 seborrheic dermatitis HP:0001051
66 seizures HP:0001250
67 motor delay HP:0001270
68 ventricular septal defect HP:0001629
69 atria septal defect HP:0001631
70 pancreatic cysts HP:0001737
71 meckel diverticulum HP:0002245
72 spina bifida HP:0002414
73 decreased antibody level in blood HP:0004313
74 shoulder muscle hypoplasia HP:0008952
75 carpal synostosis HP:0009702

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 Syndrome25
2 Thrombocytopenia Absent Radius Syndrome23 RBM8A

Anatomical Context for Thrombocytopenia-Absent Radius Syndrome

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

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053827.7ENG, HRAS, MKKS, SALL4, SATB2, SLC26A2
2MP:00053887.5ENG, GATA1, HRAS, MKKS, SATB2, TGFB3
3MP:00053907.1GATA1, HRAS, NBEAL2, SALL4, SATB2, SLC26A2
4MP:00053807.1ENG, GATA1, GFI1B, MPL, SALL4, SATB2
5MP:00053856.5ENG, GATA1, GFI1B, HRAS, MKKS, SALL4
6MP:00107685.9ENG, GATA1, GFI1B, HRAS, MKKS, MPL
7MP:00053785.8ENG, GATA1, HRAS, MKKS, MPL, SALL4

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
1nsv491550deletionPathogenic
2RBM8ANM_005105.4(RBM8A): c.-21G> Asingle nucleotide variantPathogenicrs139428292GRCh37Chr 1, 145507646: 145507646
3RBM8ANM_005105.4(RBM8A): c.67+32G> Csingle nucleotide variantLikely 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)single nucleotide variantPathogenicrs397515389GRCh37Chr 1, 145509173: 145509173
6more than 10NC_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 11)
idNameGO IDScoreTop Affiliating Genes
1thrombopoietin-mediated signaling pathwayGO:003816310.3MPL, THPO
2myeloid cell differentiationGO:00300999.9GATA1, THPO
3positive regulation of protein phosphorylationGO:00019349.8ENG, HRAS, THPO
4positive regulation of collagen biosynthetic processGO:00329679.8ENG, TGFB3
5platelet formationGO:00302209.6ACTN1, GATA1, NBEAL2
6negative regulation of gene expressionGO:00106299.6ENG, HRAS, MKKS
7platelet aggregationGO:00705279.5ACTN1, GATA1, MPL
8tissue developmentGO:00098889.5GATA1, SALL4
9cell proliferationGO:00082839.3GFI1B, HRAS, MPL, THPO
10heart developmentGO:00075078.2ENG, GATA1, MKKS, SALL4
11positive regulation of transcription from RNA polymerase II promoterGO:00459447.2ENG, 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:00504319.3ENG, TGFB3
3type II transforming growth factor beta receptor bindingGO:00051149.2ENG, TGFB3

Sources for Thrombocytopenia-Absent Radius Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet