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 49 10 11 22 23 12 51
Tar Syndrome 21 45 22 23 51
Radial Aplasia Thrombocytopenia Syndrome 21 22 24
Thrombocytopenia Absent Radius Syndrome 21 45 22
Radial Aplasia Amegakaryocytic Thrombocytopenia 21 22
Tetraphocomelia-Thrombocytopenia Syndrome 22 65
Radial Aplasia-Thrombocytopenia Syndrome 10 23
 
Absent Radii and Thrombocytopenia 45 36
Thrombocytopenia Absent Radii 45 23
Radial Aplasia-Amegakaryocytic Thrombocytopenia 23
Thrombocytopenia with Absent Radii Syndrome 10
Chromosome 1q21.1 Deletion Syndrome, 200-Kb 23
Thrombocytopenia Absent Radii Syndrome 22
Chromosome 1q21.1 Deletion Syndrome 10

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
thrombocytopenia-absent radius syndrome:
Mortality/Aging: death in infancy
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 274000
Disease Ontology10 DOID:14699
ICD1027 Q87.2
MeSH36 C536940
SNOMED-CT59 85589009
NCIt42 C99038
Orphanet51 3320
ICD10 via Orphanet28 Q87.2
UMLS via Orphanet66 C0175703
UMLS65 C0175703, C3502454

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 chromosome 1q21.1 deletion syndrome and thrombocytopenia, and has symptoms including bilateral radial aplasia, aplasia/hypoplasia of the ulna 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 Development_Thrombopoetin signaling via JAK-STAT pathway and Jak-STAT signaling pathway. Affiliated tissues include bone, kidney and bone marrow, and related mouse phenotypes are limbs/digits/tail and respiratory system.

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 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

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

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

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, Heart, Brain, Uterus, Breast

Animal Models for Thrombocytopenia-Absent Radius Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Thrombocytopenia-Absent Radius Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.4MKKS, SALL4, SATB2, SLC26A2, TGFB3
2MP:00053887.6ENG, GATA1, HRAS, MKKS, SATB2, TGFB3
3MP:00053827.4ENG, HRAS, MKKS, SALL4, SATB2, SLC26A2
4MP:00053807.3ENG, GATA1, GFI1B, MPL, SALL4, SATB2
5MP:00053907.1GATA1, HRAS, NBEAL2, SALL4, SATB2, SLC26A2
6MP:00053856.3ENG, GATA1, GFI1B, HRAS, MKKS, SALL4
7MP:00053786.0ENG, GATA1, HRAS, MKKS, MPL, SALL4
8MP:00107685.9ENG, GATA1, GFI1B, HRAS, MKKS, MPL

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
Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome. (25708036)
2015
3
Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association. (25908903)
2015
4
First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality. (24556603)
2014
5
Total knee arthroplasty in a patient with thrombocytopenia-absent radius syndrome. (25275986)
2014
6
Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. (21771154)
2012
7
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
8
Exacerbation of thrombocytopenia in a pregnant woman with thrombocytopenia-absent radius syndrome. (21530967)
2011
9
Thrombocytopenia-absent radius syndrome. (22102274)
2011
10
Thrombocytopenia absent radius syndrome. (21885665)
2011
11
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
12
Mitral valve repair in a patient with thrombocytopenia-absent radius syndrome: case report. (20961838)
2010
13
Maternal thrombocytopenia-absent radius syndrome complicated by severe pre-eclampsia. (19253167)
2009
14
Thrombocytopenia absent radius syndrome: presence of brachiocarpalis muscle and its importance. (19773129)
2009
15
Management of a parturient with thrombocytopenia-absent-radius syndrome undergoing urgent caesarean section. (18162204)
2008
16
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
17
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. (17236129)
2007
18
Thumb function and appearance in thrombocytopenia: absent radius syndrome. (17275588)
2007
19
Mayer-Rokitansky-KA1ster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome. (15705390)
2005
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
Brief psychosis in thrombocytopenia-absent radius syndrome: a case report. (16168045)
2005
23
Thrombocytopenia-absent radius syndrome: a clinical genetic study. (12471199)
2002
24
Radiology case of the month. Congenital limb and bleeding disorder. Thrombocytopenia absent radius syndrome (TAR). (11125506)
2000
25
Prenatal diagnosis of thrombocytopenia-absent radius syndrome. (8739592)
1996
26
Thrombocytopenia absent radius syndrome and knee deformity. (7670996)
1995
27
Thrombocytopenia Absent Radius Syndrome (20301781)
1993
28
Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis. (2179938)
1990
29
Thrombocytopenia absent radius syndrome associated with renal insufficiency. (2407410)
1990
30
Prenatal diagnosis of thrombocytopenia absent radius syndrome using ultrasound and fetoscopy. (6739436)
1984
31
Thrombocytopenia, absent radius syndrome: report of two siblings and a review of the hematologic and genetic features. (7067207)
1982
32

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
1thrombopoietin-mediated signaling pathwayGO:003816310.0MPL, THPO
2detection of hypoxiaGO:007048310.0ENG, TGFB3
3social behaviorGO:00351769.8HRAS, MKKS
4negative regulation of GTPase activityGO:00342609.7HRAS, MKKS
5negative regulation of transcription from RNA polymerase II promoterGO:00001228.5GATA1, GFI1B, SALL4, SATB2
6positive regulation of transcription from RNA polymerase II promoterGO:00459446.9ENG, GATA1, HRAS, SALL4, SATB2, TGFB3

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