MCID: THR009
MIFTS: 42

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:
45OMIM, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Thrombocytopenia-Absent Radius Syndrome, Aliases & Descriptions:

Name: Thrombocytopenia-Absent Radius Syndrome 45 9 10 21 11
Tar Syndrome 19 41 21 47
Thrombocytopenia - Absent Radius 41 20 47
Radial Aplasia-Thrombocytopenia Syndrome 9 21
Radial Aplasia Thrombocytopenia Syndrome 19 22
Thrombocytopenia Absent Radius Syndrome 19 41
Chromosome 1q21.1 Deletion Syndrome 9 10
 
Thrombocytopenia Absent Radii 41 21
Radial Aplasia-Amegakaryocytic Thrombocytopenia 21
Radial Aplasia Amegakaryocytic Thrombocytopenia 19
Thrombocytopenia with Absent Radii Syndrome 9
Chromosome 1q21.1 Deletion Syndrome, 200-Kb 21
Absent Radii and Thrombocytopenia 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
tar syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal


External Ids:

OMIM45 274000
Disease Ontology9 DOID:14699
MeSH33 C536940
SNOMED-CT55 85589009
Orphanet47 3320
ICD10 via Orphanet26 Q87.2
UMLS via Orphanet61 C0175703

Summaries for Thrombocytopenia-Absent Radius Syndrome

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NIH Rare Diseases:41 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, aplasia/hypoplasia of the ulna and thrombocytopenia. An important gene associated with Thrombocytopenia-Absent Radius Syndrome is RBM8A (RNA binding motif protein 8A). The compound atp have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and bone marrow.

Genetics Home Reference:21 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:45 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 18)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia31.8THPO
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 kidney10.2
12roberts syndrome10.1
13platelet storage pool deficiency10.1
14cleft lip10.1
15esophageal atresia10.1
16esophagitis10.1
17histiocytoma10.1
18annular pancreas10.1

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:

 47 (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 87)
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 thrombocytopenia hallmark (90%) HP:0001873
4 abnormality of coagulation hallmark (90%) HP:0001928
5 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
6 eosinophilia common (75%) HP:0001880
7 coxa valga common (75%) HP:0002673
8 hip dislocation common (75%) HP:0002827
9 genu varum common (75%) HP:0002970
10 clinodactyly of the 5th finger common (75%) HP:0004209
11 patellar aplasia common (75%) HP:0006443
12 cow milk allergy common (75%) HP:0100327
13 thrombocytopenia 66% HP:0001873
14 adducted thumb typical (50%) HP:0001181
15 aplasia/hypoplasia of the humerus typical (50%) HP:0006507
16 broad thumb typical (50%) HP:0011304
17 broad forehead typical (50%) HP:0000337
18 high forehead typical (50%) HP:0000348
19 low-set, posteriorly rotated ears typical (50%) HP:0000368
20 abnormality of the intestine typical (50%) HP:0002242
21 genu varum typical (50%) HP:0002970
22 abnormality of the tibia typical (50%) HP:0002992
23 abnormality of the ulna typical (50%) HP:0002997
24 patellar dislocation typical (50%) HP:0002999
25 abnormality of the humerus typical (50%) HP:0003063
26 abnormality of the hip bone typical (50%) HP:0003272
27 clinodactyly of the 5th finger typical (50%) HP:0004209
28 patellar aplasia typical (50%) HP:0006443
29 anemia frequent (33%) HP:0001903
30 abnormality of the cardiac septa 15% HP:0001671
31 malar flattening occasional (7.5%) HP:0000272
32 strabismus occasional (7.5%) HP:0000486
33 ptosis occasional (7.5%) HP:0000508
34 hooked clavicles occasional (7.5%) HP:0000895
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 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 patellar dislocation occasional (7.5%) HP:0002999
44 abnormality of the shoulder occasional (7.5%) HP:0003043
45 finger syndactyly occasional (7.5%) HP:0006101
46 nevus flammeus of the forehead occasional (7.5%) HP:0007413
47 edema of the dorsum of hands occasional (7.5%) HP:0007514
48 phocomelia occasional (7.5%) HP:0009829
49 edema of the dorsum of feet occasional (7.5%) HP:0012098
50 tibial torsion occasional (7.5%) HP:0100694
51 abnormality of female internal genitalia occasional (7.5%) HP:0000008
52 cleft palate occasional (7.5%) HP:0000175
53 micrognathia occasional (7.5%) HP:0000347
54 sensorineural hearing impairment occasional (7.5%) HP:0000407
55 abnormality of the ribs occasional (7.5%) HP:0000772
56 abnormality of the skin occasional (7.5%) HP:0000951
57 adducted thumb occasional (7.5%) HP:0001181
58 abnormality of the cardiac septa occasional (7.5%) HP:0001671
59 scoliosis occasional (7.5%) HP:0002650
60 abnormality of the femur occasional (7.5%) HP:0002823
61 abnormality of the fibula occasional (7.5%) HP:0002991
62 vertebral segmentation defect occasional (7.5%) HP:0003422
63 abnormality of thumb phalanx occasional (7.5%) HP:0009602
64 abnormal localization of kidney occasional (7.5%) HP:0100542
65 short stature 7% HP:0004322
66 aplasia of the uterus rare (5%) HP:0000151
67 cervical ribs rare (5%) HP:0000891
68 coarctation of aorta rare (5%) HP:0001680
69 fused cervical vertebrae rare (5%) HP:0002949
70 fibular aplasia rare (5%) HP:0002990
71 axial malrotation of the kidney rare (5%) HP:0004717
72 autosomal recessive inheritance HP:0000007
73 horseshoe kidney HP:0000085
74 brachycephaly HP:0000248
75 micrognathia HP:0000347
76 anteverted nares HP:0000463
77 seborrheic dermatitis HP:0001051
78 seizures HP:0001250
79 motor delay HP:0001270
80 ventricular septal defect HP:0001629
81 defect in the atrial septum HP:0001631
82 pancreatic cysts HP:0001737
83 meckel diverticulum HP:0002245
84 spina bifida HP:0002414
85 hypogammaglobulinemia HP:0004313
86 shoulder muscle hypoplasia HP:0008952
87 carpal synostosis HP:0009702

Drugs & Therapeutics for Thrombocytopenia-Absent Radius Syndrome

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Drug clinical trials:

Search ClinicalTrials for Thrombocytopenia-Absent Radius Syndrome

Search NIH Clinical Center for Thrombocytopenia-Absent Radius Syndrome

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 Syndrome20 RBM8A
2 Radial Aplasia-Thrombocytopenia Syndrome22

Anatomical Context for Thrombocytopenia-Absent Radius Syndrome

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

31
Bone, Kidney, Bone marrow, Brain, Heart, Uterus, Skin

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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1RBM8ANM_005105.4(RBM8A): c.-21G> Asingle nucleotide variantPathogenicrs139428292GRCh37Chr 1, 145507646: 145507646
2RBM8ARBM8A, IVS1, G-Csingle nucleotide variantPathogenic
3RBM8ANM_005105.4(RBM8A): c.207_208insAGCG (p.Val70Serfs)insertionPathogenicrs397515388GRCh37Chr 1, 145508476: 145508477
4RBM8ANM_005105.4(RBM8A): c.487C> T (p.Arg163Ter)single nucleotide variantPathogenicrs397515389GRCh37Chr 1, 145509173: 145509173
5NC_000001.10deletionPathogenic
6RBM8ANM_005105.4(RBM8A): c.67+32G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs201779890GRCh37Chr 1, 145507765: 145507765

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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Compounds for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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Sources:
43Novoseek, 28IUPHAR
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Compounds related to Thrombocytopenia-Absent Radius Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1atp43 2810.3RBM8A, THPO

GO Terms for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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Products for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
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Sources for Thrombocytopenia-Absent Radius Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet