MCID: THR009
MIFTS: 60

Thrombocytopenia-Absent Radius Syndrome malady

Bone diseases, Fetal diseases, Blood diseases categories

Summaries for Thrombocytopenia-Absent Radius Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 acute leukemia, 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 RBM8B (RNA binding motif protein 8B pseudogene), and among its related pathways are Development Thrombopoetin signaling via JAK-STAT pathway and Integrin alphaIIb beta3 signaling. The compounds megapoietin and anagrelide 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.

Wikipedia:63 TAR Syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by... more...

Description from OMIM:46 274000,612474

GeneReviews summary for tar

Aliases & Classifications for Thrombocytopenia-Absent Radius Syndrome

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8Disease Ontology, 9diseasecard, 21Genetics Home Reference, 46OMIM, 10DISEASES, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

48
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 8 9 21 46 10
tar syndrome 19 42 21 48
thrombocytopenia absent radius syndrome 19 42 20
chromosome 1q21.1 deletion syndrome 8 9 46
radial aplasia thrombocytopenia syndrome 19 22
radial aplasia-thrombocytopenia syndrome 8 21
absent radii and thrombocytopenia 42 60
thrombocytopenia absent radii 42 21
radial aplasia-amegakaryocytic thrombocytopenia 21
radial aplasia amegakaryocytic thrombocytopenia 19
thrombocytopenia with absent radii syndrome 8
chromosome 1q21.1 deletion syndrome, 200-kb 21
tetraphocomelia-thrombocytopenia syndrome 60
thrombocytopenia--absent radius syndrome 8
thrombocytopenia - absent radius 48
1q21.1 microdeletion syndrome 48
chromosome deletion 60
monosomy 1q21.1 48
del(1)(q21) 48


External Ids:

Disease Ontology8 DOID:14699
MeSH34 C536940
SNOMED-CT56 85589009
ICD10 via Orphanet26 Q87.2, Q93.5
SNOMED-CT via Orphanet57 85589009

Related Diseases for Thrombocytopenia-Absent Radius Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Thrombocytopenia-Absent Radius Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 181)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia31.4THPO, HOXA11, MPL
2acute leukemia29.7MPL, HRAS, THPO
3infertility10.3
4chromosomal disease10.3
5eclampsia10.3
6histiocytosis10.3
7langerhans-cell histiocytosis10.3
8pre-eclampsia10.3
9severe pre-eclampsia10.3
101q21.1 microdeletion10.3
11male infertility10.2
12aniridia10.1
13wolf-hirschhorn syndrome10.1
14smith magenis syndrome10.1
15platelet storage pool deficiency10.1
16williams-beuren syndrome10.1
17choroideremia10.1
18williams syndrome10.1
19x-linked ichthyosis10.0
20chronic granulomatous disease10.0
21retinitis pigmentosa10.0
22microphthalmia10.0
23velocardiofacial syndrome10.0
24prostate cancer10.0
25prostatitis10.0
26retinal disease10.0
27retinitis10.0
281p36 deletion syndrome10.0
29y chromosome infertility10.0
30cleft lip10.0
31roberts syndrome10.0
32esophageal atresia10.0
33esophagitis10.0
34histiocytoma10.0
35congenital amegakaryocytic thrombocytopenia10.0MPL, THPO
36thrombocytopenia due to platelet alloimmunization10.0MPL, THPO
37polycythemia vera10.0THPO, MPL
38myelofibrosis10.0THPO, MPL
39polycythemia10.0THPO, MPL
40autoimmune thrombocytopenic purpura10.0THPO, MPL
41refractory anemia10.0MPL, THPO
42hemorrhagic thrombocythemia10.0THPO, MPL
43chronic myeloproliferative disease10.0THPO, MPL
44pancytopenia10.0MPL, THPO
45aplastic anemia10.0MPL, THPO
46splenomegaly10.0THPO, MPL
47myelodysplastic syndromes10.0THPO, MPL
48congenital heart defect10.0HRAS, MKKS
49thrombocytosis10.0THPO, MPL
50myeloproliferative disorder10.0THPO, HRAS, MPL

Graphical network of the top 20 diseases related to Thrombocytopenia-Absent Radius Syndrome:



Diseases related to thrombocytopenia-absent radius syndrome

Clinical Features for Thrombocytopenia-Absent Radius Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

274000,612474

Clinical synopsis from OMIM:

274000

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Thrombocytopenia-Absent Radius Syndrome:

32
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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50PubMed
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Articles related to Thrombocytopenia-Absent Radius Syndrome:

(show all 29)
idTitleAuthorsYear
1
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report. (24053387)
2013
2
Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. (21771154)
2012
3
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
4
Exacerbation of thrombocytopenia in a pregnant woman with thrombocytopenia-absent radius syndrome. (21530967)
2011
5
Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling. (21635976)
2011
6
Thrombocytopenia-absent radius syndrome. (22102274)
2011
7
Thrombocytopenia absent radius syndrome. (21885665)
2011
8
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
9
Mitral valve repair in a patient with thrombocytopenia-absent radius syndrome: case report. (20961838)
2010
10
Maternal thrombocytopenia-absent radius syndrome complicated by severe pre-eclampsia. (19253167)
2009
11
Thrombocytopenia absent radius syndrome: presence of brachiocarpalis muscle and its importance. (19773129)
2009
12
Management of a parturient with thrombocytopenia-absent-radius syndrome undergoing urgent caesarean section. (18162204)
2008
13
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
14
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. (17236129)
2007
15
Thumb function and appearance in thrombocytopenia: absent radius syndrome. (17275588)
2007
16
Mayer-Rokitansky-KA1ster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome. (15705390)
2005
17
Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. (16440880)
2005
18
Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis. (15995562)
2005
19
Increased nuchal translucency thickness in thrombocytopenia-absent-radius syndrome. (16184503)
2005
20
Brief psychosis in thrombocytopenia-absent radius syndrome: a case report. (16168045)
2005
21
Thrombocytopenia-absent radius syndrome: a clinical genetic study. (12471199)
2002
22
Radiology case of the month. Congenital limb and bleeding disorder. Thrombocytopenia absent radius syndrome (TAR). (11125506)
2000
23
Prenatal diagnosis of thrombocytopenia-absent radius syndrome. (8739592)
1996
24
Thrombocytopenia absent radius syndrome and knee deformity. (7670996)
1995
25
Thrombocytopenia Absent Radius Syndrome (20301781)
1993
26
Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis. (2179938)
1990
27
Thrombocytopenia absent radius syndrome associated with renal insufficiency. (2407410)
1990
28
Prenatal diagnosis of thrombocytopenia absent radius syndrome using ultrasound and fetoscopy. (6739436)
1984
29
Thrombocytopenia, absent radius syndrome: report of two siblings and a review of the hematologic and genetic features. (7067207)
1982

Genetic Variations for Thrombocytopenia-Absent Radius Syndrome

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Expression for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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1BioGPS, 15Gene 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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12EMD Millipore, 4Cell Signaling Technology, 53Reactome, 52R&D Systems, 37NCBI BioSystems Database
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Pathways related to Thrombocytopenia-Absent Radius Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Development Thrombopoetin signaling via JAK-STAT pathway
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9.0THPO, MPL
2
Hide members
9.0THPO, MPL
3
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8.5THPO, HRAS, MPL

Compounds for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Thrombocytopenia-Absent Radius Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1megapoietin449.2THPO, MPL
2anagrelide44 1110.1MPL, THPO
3thromboxane44 2410.0THPO, MPL
4gp 130448.6THPO, HRAS, MPL
5agar448.5THPO, HRAS, MPL
6atp44 289.0THPO, HRAS, MKKS, RBM8A
7tyrosine447.4MPL, MKKS, HOXA10, HRAS, THPO

GO Terms for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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16Gene Ontology
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Biological processes related to Thrombocytopenia-Absent Radius Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proximal/distal pattern formationGO:0099549.7HOXA10, HOXA11
2embryonic limb morphogenesisGO:0303269.5HOXA11, HOXA10
3social behaviorGO:0351769.4HRAS, MKKS
4negative regulation of gene expressionGO:0106299.4HRAS, MKKS
5cell proliferationGO:0082838.2THPO, HRAS, MPL

Products for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet