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 lymphoma, 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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Diseases related to Thrombocytopenia-Absent Radius Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1chromosome 1q21.1 deletion syndrome12.7
2lymphoma10.6
3myocardial infarction10.4
4ovarian hyperstimulation syndrome10.4
5breast cancer10.4
6wolf-hirschhorn syndrome10.4
7burkitt lymphoma10.4
8acute myocardial infarction10.4
9chronic lymphocytic leukemia10.4
10leukemia10.4
11hydronephrosis10.4
12allergic conjunctivitis10.4
13chagas disease10.4
14leiomyoma10.4
15candidiasis10.4
16chronic mucocutaneous candidiasis10.4
17cerebritis10.4
18retrograde amnesia10.4
19pancreatitis10.4
20conjunctivitis10.4
21cll/sll10.4
22hemarthrosis10.4
23vasculitis10.4
24amelogenesis imperfecta10.4
25platelet storage pool deficiency10.3
26short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome10.3MPL, THPO
27thrombocytopenia, congenital amegakaryocytic10.3MPL, THPO
28renovascular hypertension10.3MPL, THPO
29learning disability10.2MPL, THPO
30pycnodysostosis10.2HRAS, SLC26A2
31autoimmune disease of cardiovascular system10.2MPL, THPO
32thrombocytosis10.1MPL, THPO
33thrombocytopenic purpura, autoimmune10.1MPL, THPO
34megakaryocytic tumor10.1MPL, THPO
35microphthalmia, isolated 110.0SALL4, SATB2
36androgen insensitivity, partial, with or without breast cancer10.0GATA1, THPO
37gray platelet syndrome9.9GATA1, GFI1B, NBEAL2
38hematopoietic stem cell transplantation9.8ENG, HRAS, MPL, THPO
39ewing's family of tumors9.8GATA1, MPL, THPO
40pericardial tuberculosis9.8GATA1, MPL, THPO
41dysbaric osteonecrosis9.8MKKS, SATB2, TGFB3
42neonatal stroke9.7GATA1, MPL, THPO
43leukemia, acute myeloid9.6GATA1, HRAS, MPL, THPO
44tongue squamous cell carcinoma9.4GATA1, MPL, THPO
45thrombocytopenia-absent radius syndrome7.0ACTN1, ENG, GATA1, GFI1B, HRAS, MKKS

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, Lung

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 30)
idTitleAuthorsYear
1
Familial superior canal dehiscence syndrome. (24526223)
2014
2
Inhaled allergen challenge in assessment of biologics for asthma. (24355015)
2014
3
Increased neurofilament light chain blood levels in neurodegenerative neurological diseases. (24073237)
2013
4
Early complication in Sickle Cell Anemia children due to A(TA)<formula>_n</formula> TAA polymorphism at the promoter of UGT1A1 gene. (23619273)
2013
5
Susceptibility to antimicrobial agents among bovine mastitis pathogens isolated from North American dairy cattle, 2002-2010. (23907894)
2013
6
Systematic analysis of dopamine receptor genes (DRD1-DRD5) in antipsychotic-induced weight gain. (20714340)
2012
7
Scrub typhus in patients reporting with acute febrile illness at a tertiary health care institution in Goa. (23391799)
2012
8
Congestive heart failure after extensive catheter ablation for atrial fibrillation: prevalence, characterization, and outcome. (21235663)
2011
9
Motor profile and cognitive functioning in children with spina bifida. (19237302)
2010
10
Perivascular epithelioid cell tumor (PEComa) of the cheek. (20610292)
2010
11
Brown syndrome with bifid scleral insertion of the superior oblique. (19496499)
2009
12
Langerhans cell histiocytosis following acute leukemia in an adult. (19691100)
2009
13
Effect and mechanism of acute graft versus host disease on early diffuse murine lung injury following allogeneic stem cell transplantation. (19937199)
2009
14
The prevention of type 2 diabetes. (18493227)
2008
15
Methylglyoxal increase in uremia with special reference to snakebite-mediated acute renal failure. (18275853)
2008
16
Transcriptional organization of the temperature-sensitive transfer system from the IncHI1 plasmid R27. (16272379)
2005
17
Human CYP4B1 gene in the japanese population analyzed by denaturing HPLC. (15499177)
2004
18
Bovine spongiform encephalopathy in a dairy cow--Washington state, 2003. (14712176)
2004
19
Pharmacological characterization of a serotonin receptor (5-HT7) stimulating cAMP production in human corneal epithelial cells. (14578406)
2003
20
Impact of nausea and vomiting on quality of life in cancer patients during chemotherapy. (14521717)
2003
21
A novel splicing mutation causes an undescribed type of analbuminemia. (11781148)
2002
22
Tumor markers in pleural effusions in bronchogenic carcinoma and tuberculosis]. (11928185)
2002
23
The CDKN2A tumour suppressor gene: no mutations detected in patients with melanoma and additional unrelated cancers. (12459645)
2002
24
Follistatin-related protein and follistatin differentially neutralize endogenous vs. exogenous activin. (11956142)
2002
25
Gelatinase A (MMP-2) activation by skin fibroblasts: dependence on MT1-MMP expression and fibrillar collagen form. (11420151)
2001
26
Polynuclear basophils, the key to allergic reactions. Modulations by chemokines]. (10951958)
2000
27
An abnormal protein C (protein C Yonago) with an amino acid substitution of Gly for Arg-15 caused by a single base mutation of C to G in codon 57 (CGG-->GGG). Deteriorated calcium-dependent conformation of the gamma-carboxyglutamic acid domain relevant to a thrombotic tendency. (8477066)
1993
28
Muscarinic regulation of somatostatin release from primary cultures of human antral epithelial cells. (1348127)
1992
29
Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis. (2794061)
1989
30

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