MCID: THR009
MIFTS: 49

Thrombocytopenia-Absent Radius Syndrome malady

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

Summaries for Thrombocytopenia-Absent Radius Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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: Thrombocytopenia-Absent Radius Syndrome, also known as tar syndrome, is related to thrombocytopenia and 1q21.1 microdeletion, and has symptoms including short hand/brachydactyly, upper limb polydactyly/hexadactyly and clinodactyly of fifth finger. 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.

Wikipedia:66 TAR Syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by... more...

Description from OMIM:48 274000,612474

GeneReviews summary for tar

Aliases & Classifications for Thrombocytopenia-Absent Radius Syndrome

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9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
tar syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy
1q21.1 microdeletion syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

thrombocytopenia-absent radius syndrome 9 10 22 48 11
tar syndrome 20 44 22 50
thrombocytopenia absent radius syndrome 20 44 21
chromosome 1q21.1 deletion syndrome 9 10 48
radial aplasia-thrombocytopenia syndrome 9 22
radial aplasia thrombocytopenia syndrome 20 23
absent radii and thrombocytopenia 44 63
thrombocytopenia absent radii 44 22
radial aplasia-amegakaryocytic thrombocytopenia 22
radial aplasia amegakaryocytic thrombocytopenia 20
thrombocytopenia with absent radii syndrome 9
chromosome 1q21.1 deletion syndrome, 200-kb 22
tetraphocomelia-thrombocytopenia syndrome 63
thrombocytopenia--absent radius syndrome 9
thrombocytopenia - absent radius 50
1q21.1 microdeletion syndrome 50
chromosome deletion 63
monosomy 1q21.1 50
del(1)(q21) 50


External Ids:

Disease Ontology9 DOID:14699
MeSH36 C536940
SNOMED-CT59 85589009
ICD10 via Orphanet27 Q87.2, Q93.5
SNOMED-CT via Orphanet60 85589009
UMLS via Orphanet64 C0175703

Related Diseases for Thrombocytopenia-Absent Radius Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Thrombocytopenia-Absent Radius Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia31.6THPO
21q21.1 microdeletion10.4
31q21.1 deletion10.4
4langerhans-cell histiocytosis10.3
5eclampsia10.3
6histiocytosis10.3
7pre-eclampsia10.3
8severe pre-eclampsia10.3
9mullerian agenesis10.3
10horseshoe kidney10.2
11platelet storage pool deficiency10.0
12cleft lip10.0
13roberts syndrome10.0
14esophageal atresia10.0
15esophagitis10.0
16histiocytoma10.0
17annular pancreas10.0

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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

274000

Clinical features from OMIM:

274000,612474

Symptoms:

50 (show all 76)
  • short hand/brachydactyly
  • upper limb polydactyly/hexadactyly
  • clinodactyly of fifth finger
  • broad/bifid thumb
  • talipes-varus/metatarsal varus
  • small foot
  • polydactyly of toes
  • inguinal/inguinoscrotal/crural hernia
  • scoliosis
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • coloboma of iris
  • cataract/lens opacification
  • retinoschisis/retinal/chorioretinal coloboma
  • hypermetropia
  • strabismus/squint
  • ankyloglossia/lingual synechiae
  • sensorineural deafness/hearing loss
  • syndactyly of toes
  • broad/bifid big toe
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • intrauterine growth retardation
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • hyperextensible joints/articular hyperlaxity
  • psychosis/schizophrenia/maniac disorder
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • autism/autistic disoders
  • hyperactivity/attention deficit
  • sleep and vigilance disorders
  • seizures/epilepsy/absences/spasms/status epilepticus
  • corpus callosum/septum pellucidum total/partial agenesis
  • hydrocephaly
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • vesicorenal/vesicoureteral reflux
  • hypotonia
  • patent ductus arteriosus
  • cardiac septal defect
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • 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
  • rib number anomalies
  • patella absent/abnormal (excluding luxation)
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • 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
  • vertebral segmentation anomaly/hemivertebrae
  • phocomelia
  • syndactyly of fingers/interdigital palm
  • microcephaly
  • frontal bossing/prominent forehead
  • deepset eyes/enophthalmos
  • epicanthic folds
  • long/large/bulbous nose
  • broad nose/nasal bridge
  • long philtrum
  • high vaulted/narrow palate
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • uterine/uterus/fallopian tubes anomalies
  • 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
  • structural anomalies of the kidney and the urinary tract
  • ectopic/horseshoe/fused kidneys
  • short stature/dwarfism/nanism

Drugs & Therapeutics for Thrombocytopenia-Absent Radius Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Thrombocytopenia-Absent Radius Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Thrombocytopenia-Absent Radius Syndrome:

id Genetic test Affiliating Genes
1 Thrombocytopenia Absent Radius Syndrome21 RBM8A
2 Radial Aplasia-Thrombocytopenia Syndrome23

Anatomical Context for Thrombocytopenia-Absent Radius Syndrome

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34MalaCards
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MalaCards organs/tissues related to Thrombocytopenia-Absent Radius Syndrome:

34
Bone, Kidney, Bone marrow, Heart, Brain, Testes, Eye, 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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53PubMed
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Articles related to Thrombocytopenia-Absent Radius Syndrome:

(show all 25)
idTitleAuthorsYear
1
Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. (21771154)
2012
2
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
3
Exacerbation of thrombocytopenia in a pregnant woman with thrombocytopenia-absent radius syndrome. (21530967)
2011
4
Thrombocytopenia absent radius syndrome. (21885665)
2011
5
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
6
Mitral valve repair in a patient with thrombocytopenia-absent radius syndrome: case report. (20961838)
2010
7
Maternal thrombocytopenia-absent radius syndrome complicated by severe pre-eclampsia. (19253167)
2009
8
Thrombocytopenia absent radius syndrome: presence of brachiocarpalis muscle and its importance. (19773129)
2009
9
Management of a parturient with thrombocytopenia-absent-radius syndrome undergoing urgent caesarean section. (18162204)
2008
10
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
11
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. (17236129)
2007
12
Thumb function and appearance in thrombocytopenia: absent radius syndrome. (17275588)
2007
13
Mayer-Rokitansky-KA1ster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome. (15705390)
2005
14
Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis. (15995562)
2005
15
Increased nuchal translucency thickness in thrombocytopenia-absent-radius syndrome. (16184503)
2005
16
Brief psychosis in thrombocytopenia-absent radius syndrome: a case report. (16168045)
2005
17
Thrombocytopenia-absent radius syndrome: a clinical genetic study. (12471199)
2002
18
Radiology case of the month. Congenital limb and bleeding disorder. Thrombocytopenia absent radius syndrome (TAR). (11125506)
2000
19
Prenatal diagnosis of thrombocytopenia-absent radius syndrome. (8739592)
1996
20
Thrombocytopenia absent radius syndrome and knee deformity. (7670996)
1995
21
Thrombocytopenia Absent Radius Syndrome (20301781)
1993
22
Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis. (2179938)
1990
23
Thrombocytopenia absent radius syndrome associated with renal insufficiency. (2407410)
1990
24
Prenatal diagnosis of thrombocytopenia absent radius syndrome using ultrasound and fetoscopy. (6739436)
1984
25
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Thrombocytopenia-Absent Radius Syndrome:

1
id Gene Name 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_000001.10: g.(?_145413072)_(145592772_145596903)deldeletionPathogenic
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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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46Novoseek, 30IUPHAR
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Compounds related to Thrombocytopenia-Absent Radius Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1atp46 3010.4RBM8A, 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
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  • Lysates
  • Antibodies

Sources for Thrombocytopenia-Absent Radius Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet