MCID: THR009
MIFTS: 45

Thrombocytopenia-Absent Radius Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Blood diseases categories

Aliases & Classifications for Thrombocytopenia-Absent Radius Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 36MeSH, 59SNOMED-CT, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Thrombocytopenia-Absent Radius Syndrome:

Name: Thrombocytopenia-Absent Radius Syndrome 49 10 11 23 12
Tar Syndrome 21 45 22 23 51
Radial Aplasia Thrombocytopenia Syndrome 21 22 24
Thrombocytopenia Absent Radius Syndrome 21 45 22
Thrombocytopenia Absent Radii 45 22 23
Radial Aplasia Amegakaryocytic Thrombocytopenia 21 22
Radial Aplasia-Thrombocytopenia Syndrome 10 23
 
Chromosome 1q21.1 Deletion Syndrome 10 11
Absent Radii and Thrombocytopenia 45 36
Radial Aplasia-Amegakaryocytic Thrombocytopenia 23
Thrombocytopenia with Absent Radii Syndrome 10
Chromosome 1q21.1 Deletion Syndrome, 200-Kb 23
Tetraphocomelia-Thrombocytopenia Syndrome 22
Thrombocytopenia - Absent Radius 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
tar syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal


External Ids:

OMIM49 274000
Disease Ontology10 DOID:14699
MeSH36 C536940
SNOMED-CT59 85589009
Orphanet51 3320
ICD10 via Orphanet28 Q87.2
UMLS via Orphanet66 C0175703

Summaries for Thrombocytopenia-Absent Radius Syndrome

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NIH Rare Diseases:45 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 thrombocytopenia and 1q21.1 microdeletion, 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). Affiliated tissues include bone, kidney and bone marrow.

Genetics Home Reference:23 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:49 The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence... (274000) more...

GeneReviews summary for tar

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 19)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia11.0
21q21.1 microdeletion10.5
31q21.1 deletion10.4
4tetralogy of fallot10.3
5langerhans-cell histiocytosis10.3
6eclampsia10.3
7histiocytosis10.3
8pre-eclampsia10.3
9severe pre-eclampsia10.3
10mullerian agenesis10.3
11horseshoe kidney10.1
12roberts syndrome9.9
13platelet storage pool deficiency9.9
14cleft lip9.9
15esophageal atresia9.9
16esophagitis9.9
17histiocytoma9.9
18annular pancreas9.9
19thrombocytopenia-absent radius syndrome8.9ACTN1, GFI1B, HRAS, RBM8A, RBM8B, TBX5

Graphical network of 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:

 51 (show all 34)
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • thrombocytopenia/thrombopenia
  • clotting/hemostasis disorders
  • insterstitial/subtelomeric microdeletion/deletion
  • high forehead
  • broad forehead
  • low set ears/posteriorly rotated ears
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • clinodactyly of fifth finger
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • patella absent/abnormal (excluding luxation)
  • genu varum
  • intestinal transit disorder
  • patella dislocation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • micrognathia/retrognathia/micrognathism/retrognathism
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • sensorineural deafness/hearing loss
  • rib number anomalies
  • scoliosis
  • vertebral segmentation anomaly/hemivertebrae
  • phocomelia
  • syndactyly of fingers/interdigital palm
  • broad/bifid thumb
  • clasp thumb/thumb adduction/distal thumb phalangeal bone deviated/large
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • tetralogy of fallot/trilogy of fallot
  • cardiac septal defect
  • structural anomalies of the kidney and the urinary tract
  • ectopic/horseshoe/fused kidneys
  • uterine/uterus/fallopian tubes anomalies

HPO human phenotypes related to Thrombocytopenia-Absent Radius Syndrome:

(show all 77)
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 death in infancy 40% HP:0001522
25 anemia frequent (33%) HP:0001903
26 abnormality of the cardiac septa 15% HP:0001671
27 cleft palate occasional (7.5%) HP:0000175
28 malar flattening occasional (7.5%) HP:0000272
29 micrognathia occasional (7.5%) HP:0000347
30 sensorineural hearing impairment occasional (7.5%) HP:0000407
31 strabismus occasional (7.5%) HP:0000486
32 ptosis occasional (7.5%) HP:0000508
33 lateral clavicle hook occasional (7.5%) HP:0000895
34 adducted thumb occasional (7.5%) HP:0001181
35 global developmental delay occasional (7.5%) HP:0001263
36 cerebellar hypoplasia occasional (7.5%) HP:0001321
37 hepatosplenomegaly occasional (7.5%) HP:0001433
38 carpal bone hypoplasia occasional (7.5%) HP:0001498
39 tetralogy of fallot occasional (7.5%) HP:0001636
40 abnormality of the cardiac septa occasional (7.5%) HP:0001671
41 talipes equinovarus occasional (7.5%) HP:0001762
42 delayed cns myelination occasional (7.5%) HP:0002188
43 cavum septum pellucidum occasional (7.5%) HP:0002389
44 scoliosis occasional (7.5%) HP:0002650
45 patellar dislocation occasional (7.5%) HP:0002999
46 abnormality of the shoulder occasional (7.5%) HP:0003043
47 finger syndactyly occasional (7.5%) HP:0006101
48 nevus flammeus of the forehead occasional (7.5%) HP:0007413
49 edema of the dorsum of hands occasional (7.5%) HP:0007514
50 short phalanx of finger occasional (7.5%) HP:0009803
51 phocomelia occasional (7.5%) HP:0009829
52 edema of the dorsum of feet occasional (7.5%) HP:0012098
53 abnormal localization of kidney occasional (7.5%) HP:0100542
54 tibial torsion occasional (7.5%) HP:0100694
55 short stature 7% HP:0004322
56 aplasia of the uterus rare (5%) HP:0000151
57 cervical ribs rare (5%) HP:0000891
58 coarctation of aorta rare (5%) HP:0001680
59 fused cervical vertebrae rare (5%) HP:0002949
60 fibular aplasia rare (5%) HP:0002990
61 axial malrotation of the kidney rare (5%) HP:0004717
62 autosomal recessive inheritance HP:0000007
63 horseshoe kidney HP:0000085
64 brachycephaly HP:0000248
65 micrognathia HP:0000347
66 anteverted nares HP:0000463
67 seborrheic dermatitis HP:0001051
68 seizures HP:0001250
69 motor delay HP:0001270
70 ventricular septal defect HP:0001629
71 atria septal defect HP:0001631
72 pancreatic cysts HP:0001737
73 meckel diverticulum HP:0002245
74 spina bifida HP:0002414
75 decreased antibody level in blood HP:0004313
76 shoulder muscle hypoplasia HP:0008952
77 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 Thrombocytopenia Absent Radius Syndrome22 RBM8A
2 Radial Aplasia-Thrombocytopenia Syndrome24

Anatomical Context for Thrombocytopenia-Absent Radius Syndrome

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

33
Bone, Kidney, Bone marrow, Brain, Heart, Uterus

Animal Models for Thrombocytopenia-Absent Radius Syndrome or affiliated genes

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Publications for Thrombocytopenia-Absent Radius Syndrome

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Articles related to Thrombocytopenia-Absent Radius Syndrome:

(show all 30)
idTitleAuthorsYear
1
Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome. (25708036)
2015
2
Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association. (25908903)
2015
3
First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality. (24556603)
2014
4
Total knee arthroplasty in a patient with thrombocytopenia-absent radius syndrome. (25275986)
2014
5
Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. (21771154)
2012
6
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
7
Exacerbation of thrombocytopenia in a pregnant woman with thrombocytopenia-absent radius syndrome. (21530967)
2011
8
Thrombocytopenia-absent radius syndrome. (22102274)
2011
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
Mitral valve repair in a patient with thrombocytopenia-absent radius syndrome: case report. (20961838)
2010
12
Maternal thrombocytopenia-absent radius syndrome complicated by severe pre-eclampsia. (19253167)
2009
13
Thrombocytopenia absent radius syndrome: presence of brachiocarpalis muscle and its importance. (19773129)
2009
14
Management of a parturient with thrombocytopenia-absent-radius syndrome undergoing urgent caesarean section. (18162204)
2008
15
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
16
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. (17236129)
2007
17
Thumb function and appearance in thrombocytopenia: absent radius syndrome. (17275588)
2007
18
Mayer-Rokitansky-KA1ster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome. (15705390)
2005
19
Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis. (15995562)
2005
20
Increased nuchal translucency thickness in thrombocytopenia-absent-radius syndrome. (16184503)
2005
21
Brief psychosis in thrombocytopenia-absent radius syndrome: a case report. (16168045)
2005
22
Thrombocytopenia-absent radius syndrome: a clinical genetic study. (12471199)
2002
23
Radiology case of the month. Congenital limb and bleeding disorder. Thrombocytopenia absent radius syndrome (TAR). (11125506)
2000
24
Prenatal diagnosis of thrombocytopenia-absent radius syndrome. (8739592)
1996
25
Thrombocytopenia absent radius syndrome and knee deformity. (7670996)
1995
26
Thrombocytopenia Absent Radius Syndrome (20301781)
1993
27
Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis. (2179938)
1990
28
Thrombocytopenia absent radius syndrome associated with renal insufficiency. (2407410)
1990
29
Prenatal diagnosis of thrombocytopenia absent radius syndrome using ultrasound and fetoscopy. (6739436)
1984
30
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

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:

idNameGO IDScoreTop Affiliating Genes
1myeloid cell differentiationGO:003009910.1GFI1B, THPO
2transcription from RNA polymerase II promoterGO:00063669.0GFI1B, RBM8A, TBX5
3cell proliferationGO:00082838.9GFI1B, HRAS, THPO
4blood coagulationGO:00075968.3ACTN1, HRAS, THPO

Sources for Thrombocytopenia-Absent Radius Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet