TAR
MCID: THR009
MIFTS: 45

Thrombocytopenia-Absent Radius Syndrome (TAR)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Thrombocytopenia-Absent Radius Syndrome

MalaCards integrated aliases for Thrombocytopenia-Absent Radius Syndrome:

Name: Thrombocytopenia-Absent Radius Syndrome 58 12 26 60 76 38 13 15 41
Tar Syndrome 58 77 54 26 60 76
Radial Aplasia-Thrombocytopenia Syndrome 12 26 76 30 6
Absent Radii and Thrombocytopenia 54 76 45
Chromosome 1q21.1 Deletion Syndrome, 200-Kb 58 26
Thrombocytopenia Absent Radius Syndrome 25 54
Thrombocytopenia Absent Radii 54 26
Tar 58 76
Radial Aplasia-Amegakaryocytic Thrombocytopenia 26
Thrombocytopenia with Absent Radii Syndrome 12
Upper Extremity Deformities, Congenital 45
Chromosome 1q21.1 Deletion Syndrome 12

Characteristics:

Orphanet epidemiological data:

60
thrombocytopenia-absent radius syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
approximately 40% of patients die within newborn period
severity of hematologic disorder decreases with advancing age


HPO:

33
thrombocytopenia-absent radius syndrome:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thrombocytopenia-Absent Radius Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Thrombocytopenia-Absent Radius Syndrome, also known as tar syndrome, is related to perry syndrome and storage pool platelet disease. An important gene associated with Thrombocytopenia-Absent Radius Syndrome is RBM8A (RNA Binding Motif Protein 8A), and among its related pathways/superpathways is NF-kappaB Signaling. Affiliated tissues include kidney, bone marrow and brain, and related phenotypes are thrombocytopenia and abnormality of coagulation

Genetics Home Reference : 26 Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cell fragments 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 : 58 The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see 227650). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012). (274000)

UniProtKB/Swiss-Prot : 76 Thrombocytopenia-absent radius syndrome: An autosomal recessive disorder characterized by bilateral absence of the radii with the presence of both thumbs, thrombocytopenia, low numbers of megakaryocytes, and bleeding episodes in the first year of life. Thrombocytopenic episodes decrease with age. Skeletal anomalies range from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee.

Wikipedia : 77 TAR syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by... more...

GeneReviews:

Related Diseases for Thrombocytopenia-Absent Radius Syndrome

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

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 perry syndrome 11.1
2 storage pool platelet disease 11.1
3 amegakaryocytic thrombocytopenia, congenital 11.1
4 chromosome 1q21.1 deletion syndrome, 1.35-mb 11.1
5 parapsoriasis 11.1
6 thrombocytopenia 10.9
7 human immunodeficiency virus type 1 10.5
8 psoriasis 10.4
9 amyotrophic lateral sclerosis 1 10.3
10 frontotemporal dementia 10.3
11 lateral sclerosis 10.3
12 dermatitis 10.3
13 foodborne botulism 10.3
14 wound botulism 10.3
15 tetralogy of fallot 10.1
16 mayer-rokitansky-kuster-hauser syndrome 10.1
17 langerhans cell histiocytosis 10.1
18 pre-eclampsia 10.1
19 severe pre-eclampsia 10.1
20 eclampsia 10.1
21 histiocytosis 10.1
22 intermittent claudication 10.1
23 alzheimer disease 10.1
24 lung cancer 10.1
25 dermatitis, atopic 10.1
26 sarcoma 10.1
27 contact dermatitis 10.1
28 allergic contact dermatitis 10.1
29 pustulosis of palm and sole 10.1
30 schizophrenia 10.0
31 deafness-infertility syndrome 10.0
32 helix syndrome 10.0
33 leukemia 10.0
34 seborrheic dermatitis 10.0
35 fasciitis 10.0
36 necrotizing fasciitis 10.0
37 bladder cancer 9.9
38 tobacco addiction 9.9
39 tracheoesophageal fistula with or without esophageal atresia 9.9
40 multiple acyl-coa dehydrogenase deficiency 9.9
41 psoriasis 7 9.9
42 smoking as a quantitative trait locus 3 9.9
43 psoriasis 11 9.9
44 psoriasis 13 9.9
45 nevus comedonicus 9.9
46 motor neuron disease 9.9
47 esophageal atresia 9.9
48 mast cell neoplasm 9.9
49 extracutaneous mastocytoma 9.9
50 herpes simplex 9.9

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



Diseases related to Thrombocytopenia-Absent Radius Syndrome

Symptoms & Phenotypes for Thrombocytopenia-Absent Radius Syndrome

Human phenotypes related to Thrombocytopenia-Absent Radius Syndrome:

60 33 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia 60 33 very rare (1%) Very frequent (99-80%) HP:0001873
2 abnormality of coagulation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001928
3 absent radius 60 33 hallmark (90%) Very frequent (99-80%) HP:0003974
4 aplasia/hypoplasia of the ulna 60 33 hallmark (90%) Frequent (79-30%) HP:0006495
5 broad thumb 60 33 frequent (33%) Occasional (29-5%) HP:0011304
6 coxa valga 60 33 frequent (33%) Frequent (79-30%) HP:0002673
7 hip dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0002827
8 broad forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000337
9 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
10 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
11 patellar dislocation 60 33 occasional (7.5%) Frequent (79-30%) HP:0002999
12 genu varum 60 33 frequent (33%) Frequent (79-30%) HP:0002970
13 high forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000348
14 adducted thumb 60 33 frequent (33%) Occasional (29-5%) HP:0001181
15 aplasia/hypoplasia of the patella 60 33 frequent (33%) Frequent (79-30%) HP:0006498
16 aplasia/hypoplasia of the humerus 60 33 very rare (1%) Frequent (79-30%) HP:0006507
17 tibial torsion 60 33 occasional (7.5%) Frequent (79-30%) HP:0100694
18 anemia 33 frequent (33%) HP:0001903
19 eosinophilia 33 frequent (33%) HP:0001880
20 patellar aplasia 33 frequent (33%) HP:0006443
21 cow milk allergy 33 frequent (33%) HP:0100327
22 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
23 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
24 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
25 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
26 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
27 horseshoe kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0000085
28 tetralogy of fallot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001636
29 phocomelia 60 33 occasional (7.5%) Occasional (29-5%) HP:0009829
30 aplasia of the uterus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000151
31 cervical ribs 60 33 occasional (7.5%) Occasional (29-5%) HP:0000891
32 fused cervical vertebrae 60 33 occasional (7.5%) Occasional (29-5%) HP:0002949
33 fibular aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002990
34 axial malrotation of the kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0004717
35 nevus flammeus of the forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0007413
36 malar flattening 33 occasional (7.5%) HP:0000272
37 ptosis 33 occasional (7.5%) HP:0000508
38 global developmental delay 33 occasional (7.5%) HP:0001263
39 strabismus 33 occasional (7.5%) HP:0000486
40 carpal bone hypoplasia 33 occasional (7.5%) HP:0001498
41 coarctation of aorta 33 occasional (7.5%) HP:0001680
42 talipes equinovarus 33 occasional (7.5%) HP:0001762
43 cerebellar hypoplasia 33 occasional (7.5%) HP:0001321
44 abnormality of the shoulder 33 occasional (7.5%) HP:0003043
45 edema of the dorsum of hands 33 occasional (7.5%) HP:0007514
46 short phalanx of finger 33 occasional (7.5%) HP:0009803
47 hepatosplenomegaly 33 occasional (7.5%) HP:0001433
48 lateral clavicle hook 33 occasional (7.5%) HP:0000895
49 delayed cns myelination 33 occasional (7.5%) HP:0002188
50 edema of the dorsum of feet 33 occasional (7.5%) HP:0012098

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
strabismus

Growth Height:
short stature

Hematology:
anemia
eosinophilia
thrombocytopenia (onset birth-neonate, may be precipitated by cow's milk allergy)
absent or hypoplastic megakaryocytes
'leukemoid' granulocytosis
more
Skeletal Pelvis:
coxa valga
hip dislocation

Cardiovascular Heart:
atrial septal defect
tetralogy of fallot
ventricular septal defects
coaractation of the aorta

Skeletal Spine:
spina bifida

Skeletal Limbs:
tibial torsion
bilateral absence of radius
hypoplasia or unilateral/bilateral absence of ulna
abnormal humerus
knee subluxation
more
Head And Neck Nose:
small, upturned nose

Skin Nails Hair Skin:
forehead nevus flammeus
dysseborrheic dermatitis

Neurologic Central Nervous System:
seizures
delayed myelination
cavum septum pellucidum
intracranial bleed
hypoplasia of cerebellum
more
Head And Neck Head:
brachycephaly

Head And Neck Face:
micrognathia

Skeletal Hands:
carpal bone hypoplasia
carpal bone fusion
thumbs always present
hypoplastic phalanges

Abdomen Pancreas:
pancreatic cysts

Abdomen Gastrointestinal:
meckel diverticulum

Immunology:
hypogammaglobulinemia
cow's milk allergy

Chest Ribs Sternum Clavicles And Scapulae:
lateral clavicular hook

Muscle Soft Tissue:
arm/shoulder muscle hypoplasia

Clinical features from OMIM:

274000

Drugs & Therapeutics for Thrombocytopenia-Absent Radius Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
2 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274

Search NIH Clinical Center for Thrombocytopenia-Absent Radius Syndrome

Cochrane evidence based reviews: upper extremity deformities, congenital

Genetic Tests for Thrombocytopenia-Absent Radius Syndrome

Genetic tests related to Thrombocytopenia-Absent Radius Syndrome:

# Genetic test Affiliating Genes
1 Radial Aplasia-Thrombocytopenia Syndrome 30 RBM8A

Anatomical Context for Thrombocytopenia-Absent Radius Syndrome

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

42
Kidney, Bone Marrow, Brain, Skin, Uterus, Pancreas, Myeloid

Publications for Thrombocytopenia-Absent Radius Syndrome

Articles related to Thrombocytopenia-Absent Radius Syndrome:

(show top 50) (show all 94)
# Title Authors Year
1
Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome: A non-previously described association. ( 31006900 )
2019
2
Pregnancy in patients with thrombocytopenia and absent radii (TAR) syndrome. ( 28730453 )
2017
3
Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome. ( 28857120 )
2017
4
The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome. ( 27981927 )
2016
5
Thrombocytopenia-absent radius syndrome: prenatal diagnosis of a rare syndrome. ( 27141140 )
2016
6
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing. ( 27320760 )
2016
7
Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association. ( 25908903 )
2015
8
Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case. ( 26550033 )
2015
9
Thrombocytopenia and absent radius (TAR) syndrome in pregnancy. ( 26420700 )
2015
10
Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome? ( 25954675 )
2015
11
Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome. ( 25708036 )
2015
12
Thrombocytopenia absent radius (TAR) syndrome: a case report and review for oral health care providers. ( 25346959 )
2014
13
Total knee arthroplasty in a patient with thrombocytopenia-absent radius syndrome. ( 25275986 )
2014
14
First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality. ( 24556603 )
2014
15
Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report. ( 24220582 )
2014
16
A new approach for molecular diagnosis of TAR syndrome. ( 24769264 )
2014
17
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
18
Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. ( 21771154 )
2012
19
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
20
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. ( 22366785 )
2012
21
Thrombocytopenia and absent radii (TAR) syndrome associated with bilateral congenital cataract: a case report. ( 22742195 )
2012
22
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
23
Exacerbation of thrombocytopenia in a pregnant woman with thrombocytopenia-absent radius syndrome. ( 21530967 )
2011
24
Thrombocytopenia absent radius syndrome. ( 21885665 )
2011
25
Thrombocytopenia-absent radius syndrome. ( 22102274 )
2011
26
TAR syndrome and esophagial atresia: a concomitant or variant condition? ( 20476878 )
2011
27
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
28
Thrombocytopenia absent radius (TAR) syndrome. ( 21776884 )
2011
29
Management of a parturient with TAR syndrome during caesarean section and the use of thromboelastography. ( 21907567 )
2011
30
Mitral valve repair in a patient with thrombocytopenia-absent radius syndrome: case report. ( 20961838 )
2010
31
Maternal thrombocytopenia-absent radius syndrome complicated by severe pre-eclampsia. ( 19253167 )
2009
32
Thrombocytopenia absent radius syndrome: presence of brachiocarpalis muscle and its importance. ( 19773129 )
2009
33
Thrombocytopenia with absent radii (TAR) syndrome: from hemopoietic progenitor to mesenchymal stromal cell disease? ( 19028006 )
2009
34
Management of a parturient with thrombocytopenia-absent-radius syndrome undergoing urgent caesarean section. ( 18162204 )
2008
35
Kidney stone and urinary bladder telangiectasia in a patient with TAR syndrome. ( 19102062 )
2008
36
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. ( 17236129 )
2007
37
Thumb function and appearance in thrombocytopenia: absent radius syndrome. ( 17275588 )
2007
38
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
39
Progressive nodular histiocytoma associated with thrombocytopenia with absent radii (TAR syndrome) and angiofibromas. ( 16874423 )
2006
40
Doubtful association between TAR syndrome and increased nuchal translucency in the first trimester of pregnancy. ( 16566044 )
2006
41
An unusual association of TAR syndrome with esophageal atresia: a variant? ( 16169816 )
2005
42
Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. ( 16440880 )
2005
43
Mayer-Rokitansky-Küster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome. ( 15705390 )
2005
44
Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis. ( 15995562 )
2005
45
Brief psychosis in thrombocytopenia-absent radius syndrome: a case report. ( 16168045 )
2005
46
Increased nuchal translucency thickness in thrombocytopenia-absent-radius syndrome. ( 16184503 )
2005
47
First-trimester diagnosis of thrombocytopenia-absent radius (TAR) syndrome in a triplet pregnancy. ( 15849791 )
2005
48
A case of thrombocytopenia with absent radii (TAR syndrome). ( 16183594 )
2005
49
TAR syndrome with annular pancreas and anal atresia - a case report. ( 15185161 )
2004
50
Thrombocytopenia and absent radii, TAR syndrome: report of cerebellar dysgenesis and newly identified cardiac and renal anomalies. ( 14598347 )
2003

Variations for Thrombocytopenia-Absent Radius Syndrome

ClinVar genetic disease variations for Thrombocytopenia-Absent Radius Syndrome:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 nsv491550 deletion Pathogenic
2 RBM8A NM_005105.4(RBM8A): c.-21G> A single nucleotide variant Pathogenic/Likely pathogenic rs139428292 GRCh37 Chromosome 1, 145507646: 145507646
3 RBM8A NM_005105.4(RBM8A): c.-21G> A single nucleotide variant Pathogenic/Likely pathogenic rs139428292 GRCh38 Chromosome 1, 145927447: 145927447
4 RBM8A NM_005105.4(RBM8A): c.67+32G> C single nucleotide variant Pathogenic/Likely pathogenic rs201779890 GRCh38 Chromosome 1, 145927328: 145927328
5 RBM8A NM_005105.4(RBM8A): c.67+32G> C single nucleotide variant Pathogenic/Likely pathogenic rs201779890 GRCh37 Chromosome 1, 145507765: 145507765
6 RBM8A NM_005105.4(RBM8A): c.207_208insAGCG (p.Val70Serfs) insertion Pathogenic rs397515388 GRCh37 Chromosome 1, 145508476: 145508477
7 RBM8A NM_005105.4(RBM8A): c.207_208insAGCG (p.Val70Serfs) insertion Pathogenic rs397515388 GRCh38 Chromosome 1, 145926616: 145926617
8 RBM8A NM_005105.4(RBM8A): c.487C> T (p.Arg163Ter) single nucleotide variant Pathogenic rs397515389 GRCh37 Chromosome 1, 145509173: 145509173
9 RBM8A NM_005105.4(RBM8A): c.487C> T (p.Arg163Ter) single nucleotide variant Pathogenic rs397515389 GRCh38 Chromosome 1, 145925920: 145925920
10 covers 12 genes, none of which curated to show dosage sensitivity NC_000001.10 deletion Pathogenic GRCh37 Chromosome 1, 145413072: 145596903
11 RBM8A NC_000001.10: g.(?_145507647)_(145509231_?)del deletion Pathogenic GRCh37 Chromosome 1, 145507647: 145509231
12 covers 16 genes, none of which curated to show dosage sensitivity GRCh37/hg19 1q21.1(chr1: 145415156-145799615)x1 copy number loss not provided GRCh37 Chromosome 1, 145415156: 145799615
13 covers 14 genes, none of which curated to show dosage sensitivity GRCh37/hg19 1q21.1(chr1: 145395604-145704146) copy number loss Likely pathogenic GRCh37 Chromosome 1, 145395604: 145704146

Copy number variations for Thrombocytopenia-Absent Radius Syndrome from CNVD:

7 (show all 14)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13817 1 1 7100000 Microdeletion TAR Syndrome
2 17317 1 142400000 148000000 Microdeletion TAR Syndrome
3 17318 1 142400000 148000000 Microdeletion ANKRD35 Thrombocytopenia-absent radius syndrome
4 17319 1 142400000 148000000 Microdeletion GNRR2 Thrombocytopenia-absent radius syndrome
5 17320 1 142400000 148000000 Microdeletion HFE2 Thrombocytopenia-absent radius syndrome
6 17321 1 142400000 148000000 Microdeletion ITGA10 Thrombocytopenia-absent radius syndrome
7 17322 1 142400000 148000000 Microdeletion LIX1L Thrombocytopenia-absent radius syndrome
8 17323 1 142400000 148000000 Microdeletion PEX11B Thrombocytopenia-absent radius syndrome
9 17324 1 142400000 148000000 Microdeletion PIAS3 Thrombocytopenia-absent radius syndrome
10 17325 1 142400000 148000000 Microdeletion POLR3GL Thrombocytopenia-absent radius syndrome
11 17326 1 142400000 148000000 Microdeletion RBM8A Thrombocytopenia-absent radius syndrome
12 17327 1 142400000 148000000 Microdeletion TXNIP Thrombocytopenia-absent radius syndrome
13 20076 1 15300000 153300000 Microdeletion Thrombocytopenia-absent radius syndrome
14 112064 17 37800000 47600000 Microdeletion TAR Syndrome

Expression for Thrombocytopenia-Absent Radius Syndrome

Search GEO for disease gene expression data for Thrombocytopenia-Absent Radius Syndrome.

Pathways for Thrombocytopenia-Absent Radius Syndrome

Pathways related to Thrombocytopenia-Absent Radius Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.14 GFI1B MPL

GO Terms for Thrombocytopenia-Absent Radius Syndrome

Sources for Thrombocytopenia-Absent Radius Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....