DEL
MCID: THR009
MIFTS: 55

Thrombocytopenia-Absent Radius Syndrome (DEL) malady

Bone, Fetal, Blood categories

Summaries for Thrombocytopenia-Absent Radius Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray, thrombocytopenia/thrombopenia and clotting/hemostasis disorders. 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 marrow, brain and heart.

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

Description from OMIM:47 274000,612474

GeneReviews summary for tar

Aliases & Classifications for Thrombocytopenia-Absent Radius Syndrome

Sources:
8Disease Ontology, 9diseasecard, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS, 57SNOMED-CT, 35MeSH, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47 10
tar syndrome 19 43 21 49
thrombocytopenia absent radius syndrome 19 43 20
chromosome 1q21.1 deletion syndrome 8 9 47
radial aplasia-thrombocytopenia syndrome 8 21
radial aplasia thrombocytopenia syndrome 19 22
absent radii and thrombocytopenia 43 61
thrombocytopenia absent radii 43 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 61
thrombocytopenia--absent radius syndrome 8
thrombocytopenia - absent radius 49
1q21.1 microdeletion syndrome 49
chromosome deletion 61
monosomy 1q21.1 49
del 49


External Ids:

Disease Ontology8 DOID:14699
SNOMED-CT57 85589009
MeSH35 C536940
ICD10 via Orphanet26 Q87.2, Q93.5

Related Diseases for Thrombocytopenia-Absent Radius Syndrome

Sources:
17GeneCards, 18GeneDecks
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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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

274000,612474

Clinical synopsis from OMIM:

274000

Symptoms:

49 (show all 76)
  • 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
  • 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
  • short stature/dwarfism/nanism
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • coloboma of iris
  • cataract/lens opacification
  • retinoschisis/retinal/chorioretinal coloboma
  • hypermetropia
  • strabismus/squint
  • ankyloglossia/lingual synechiae
  • inguinal/inguinoscrotal/crural hernia
  • short hand/brachydactyly
  • upper limb polydactyly/hexadactyly
  • talipes-varus/metatarsal varus
  • small foot
  • polydactyly of toes
  • syndactyly of toes
  • broad/bifid big toe
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • patent ductus arteriosus
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • vesicorenal/vesicoureteral reflux
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hydrocephaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • sleep and vigilance disorders
  • hyperactivity/attention deficit
  • autism/autistic disoders
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • psychosis/schizophrenia/maniac disorder
  • hyperextensible joints/articular hyperlaxity
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation

Drugs & Therapeutics for Thrombocytopenia-Absent Radius Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Thrombocytopenia-Absent Radius Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Thrombocytopenia-Absent Radius Syndrome

Search CenterWatch for Thrombocytopenia-Absent Radius Syndrome

Genetic Tests for Thrombocytopenia-Absent Radius Syndrome

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Thrombocytopenia-Absent Radius Syndrome:

33
Bone marrow, Brain, Heart, Kidney

Animal Models for Thrombocytopenia-Absent Radius Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Thrombocytopenia-Absent Radius Syndrome

Sources:
51PubMed
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Articles related to Thrombocytopenia-Absent Radius Syndrome:

(show all 30)
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
Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome. (11841440)
2002
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

Genetic Variations for Thrombocytopenia-Absent Radius Syndrome

Expression for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

Sources:
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

Sources:
12EMD Millipore, 4Cell Signaling Technology, 54Reactome, 53R&D Systems, 38NCBI 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
Hide members
9.0THPO, MPL
2
Hide members
9.0THPO, MPL
3
Hide members
8.5THPO, HRAS, MPL

Compounds for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR
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Compounds related to Thrombocytopenia-Absent Radius Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1megapoietin459.2THPO, MPL
2anagrelide45 1110.1MPL, THPO
3thromboxane45 2410.0THPO, MPL
4gp 130458.6THPO, HRAS, MPL
5agar458.5THPO, HRAS, MPL
6atp45 299.0THPO, HRAS, MKKS, RBM8A
7tyrosine457.4MPL, MKKS, HOXA10, HRAS, THPO

GO Terms for genes affiliated with Thrombocytopenia-Absent Radius Syndrome

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet