TAR
MCID: THR009
MIFTS: 59

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 57 12 25 59 75 37 13 15 40
Tar Syndrome 57 76 24 53 25 59 75
Radial Aplasia-Thrombocytopenia Syndrome 12 25 75 29 6
Absent Radii and Thrombocytopenia 53 75 44
Chromosome 1q21.1 Deletion Syndrome, 200-Kb 57 25
Thrombocytopenia Absent Radius Syndrome 24 53
Thrombocytopenia Absent Radii 53 25
Tar 57 75
Radial Aplasia-Amegakaryocytic Thrombocytopenia 25
Thrombocytopenia with Absent Radii Syndrome 12
Upper Extremity Deformities, Congenital 44
Chromosome 1q21.1 Deletion Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
thrombocytopenia-absent radius syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
thrombocytopenia-absent radius syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance Penetrance appears to be complete in individuals who have biallelic rbm8a pathogenic variants...

Classifications:



Summaries for Thrombocytopenia-Absent Radius Syndrome

NIH Rare Diseases : 53 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 amegakaryocytic thrombocytopenia, congenital and thrombocytopenia. An important gene associated with Thrombocytopenia-Absent Radius Syndrome is RBM8A (RNA Binding Motif Protein 8A), and among its related pathways/superpathways are PAK Pathway and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include bone, kidney and bone marrow, and related phenotypes are finger syndactyly and scoliosis

Genetics Home Reference : 25 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 : 57 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 : 75 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 : 76 TAR Syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by... more...

GeneReviews: NBK23758

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 124)
# Related Disease Score Top Affiliating Genes
1 amegakaryocytic thrombocytopenia, congenital 31.7 MPL THPO
2 thrombocytopenia 31.2 ANKRD26 GATA1 GP1BA MPL THPO
3 leukemia, acute myeloid 29.4 GATA1 JAK2 MPL THPO
4 perry syndrome 11.0
5 storage pool platelet disease 11.0
6 chromosome 1q21.1 deletion syndrome, 1.35-mb 11.0
7 parapsoriasis 11.0
8 human immunodeficiency virus type 1 10.5
9 psoriasis 10.4
10 amyotrophic lateral sclerosis 1 10.3
11 lateral sclerosis 10.3
12 wound botulism 10.2
13 thrombocytopenia 3 10.2 MPL THPO
14 dyskeratosis congenita, autosomal dominant 6 10.2 MPL THPO
15 myh-9 related disease 10.2 ANKRD26 GP1BA
16 dermatitis 10.2
17 frontotemporal dementia 10.1
18 tetralogy of fallot 10.1
19 langerhans cell histiocytosis 10.1
20 pre-eclampsia 10.1
21 severe pre-eclampsia 10.1
22 eclampsia 10.1
23 histiocytosis 10.1
24 autosomal dominant macrothrombocytopenia 10.1 ACTN1 GFI1B GP1BA
25 primary thrombocytopenia 10.1 GP1BA MPL THPO
26 autoimmune disease of blood 10.1 GP1BA MPL THPO
27 omodysplasia 10.1 SATB2 SLC26A2
28 thrombocytopenic purpura, autoimmune 10.1 GP1BA MPL THPO
29 thrombocytopenia 1 10.1 GATA1 THPO
30 hemorrhagic disease 10.1 GP1BA MPL THPO
31 syngnathia 10.1 FGF8 SATB2
32 gray platelet syndrome 10.1 GATA1 GFI1B NBEAL2
33 acquired von willebrand syndrome 10.1 GP1BA JAK2
34 alzheimer disease 10.1
35 lung cancer 10.1
36 sarcoma 10.1
37 thrombocytosis 10.0 JAK2 MPL THPO
38 thrombocythemia 1 10.0 CALR MPL THPO
39 dermatitis, atopic 10.0
40 seborrheic dermatitis 10.0
41 hartsfield syndrome 10.0 FGF8 FGFR1
42 megakaryocytic leukemia 9.9 GATA1 JAK2 THPO
43 blood coagulation disease 9.9 GP1BA JAK2 MPL THPO
44 blood platelet disease 9.9 GP1BA JAK2 MPL THPO
45 physical disorder 9.9 FGF8 MKKS SATB2 TGFB3
46 primary polycythemia 9.9 CALR JAK2 MPL
47 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 9.9 FGFR1 JAK2
48 bladder cancer 9.9
49 schizophrenia 9.9
50 tobacco addiction 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Thrombocytopenia-Absent Radius Syndrome:

59 32 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
2 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
4 broad thumb 59 32 frequent (33%) Occasional (29-5%) HP:0011304
5 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
6 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
7 coxa valga 59 32 frequent (33%) Frequent (79-30%) HP:0002673
8 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
9 thrombocytopenia 59 32 very rare (1%) Very frequent (99-80%) HP:0001873
10 hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0002827
11 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
12 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
13 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
14 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
15 patellar dislocation 59 32 occasional (7.5%) Frequent (79-30%) HP:0002999
16 genu varum 59 32 frequent (33%) Frequent (79-30%) HP:0002970
17 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
18 adducted thumb 59 32 frequent (33%) Occasional (29-5%) HP:0001181
19 abnormality of coagulation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001928
20 aplasia/hypoplasia of the patella 59 32 frequent (33%) Frequent (79-30%) HP:0006498
21 phocomelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0009829
22 aplasia of the uterus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000151
23 cervical ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000891
24 fused cervical vertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0002949
25 fibular aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002990
26 absent radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0003974
27 axial malrotation of the kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0004717
28 aplasia/hypoplasia of the ulna 59 32 hallmark (90%) Frequent (79-30%) HP:0006495
29 aplasia/hypoplasia of the humerus 59 32 very rare (1%) Frequent (79-30%) HP:0006507
30 nevus flammeus of the forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0007413
31 tibial torsion 59 32 occasional (7.5%) Frequent (79-30%) HP:0100694
32 malar flattening 32 occasional (7.5%) HP:0000272
33 ptosis 32 occasional (7.5%) HP:0000508
34 intellectual disability 32 HP:0001249
35 seizures 32 HP:0001250
36 global developmental delay 32 occasional (7.5%) HP:0001263
37 anteverted nares 32 HP:0000463
38 short stature 32 very rare (1%) HP:0004322
39 brachycephaly 32 HP:0000248
40 anemia 32 frequent (33%) HP:0001903
41 strabismus 32 occasional (7.5%) HP:0000486
42 carpal bone hypoplasia 32 occasional (7.5%) HP:0001498
43 atrial septal defect 32 HP:0001631
44 coarctation of aorta 32 occasional (7.5%) HP:0001680
45 decreased antibody level in blood 32 HP:0004313
46 motor delay 32 HP:0001270
47 talipes equinovarus 32 occasional (7.5%) HP:0001762
48 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
49 abnormality of the kidney 59 Occasional (29-5%)
50 pancreatic cysts 32 HP:0001737

MGI Mouse Phenotypes related to Thrombocytopenia-Absent Radius Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.3 CALR FGF8 FGFR1 GATA1 GFI1B GP1BA
2 cardiovascular system MP:0005385 10.18 ANKRD26 CALR ENG FGF8 FGFR1 GATA1
3 growth/size/body region MP:0005378 10.18 ANKRD26 CALR ENG FGF8 FGFR1 GATA1
4 embryo MP:0005380 10.1 CALR ENG FGF8 FGFR1 GATA1 GFI1B
5 homeostasis/metabolism MP:0005376 10.1 ANKRD26 CALR ENG FGF8 FGFR1 GATA1
6 hematopoietic system MP:0005397 10.06 ENG FGF8 FGFR1 GATA1 GFI1B GP1BA
7 craniofacial MP:0005382 9.98 ENG FGF8 FGFR1 MKKS SATB2 SLC26A2
8 mortality/aging MP:0010768 9.73 CALR ENG FGF8 FGFR1 GATA1 GFI1B
9 limbs/digits/tail MP:0005371 9.63 FGF8 FGFR1 MKKS SATB2 SLC26A2 TGFB3
10 skeleton MP:0005390 9.23 FGF8 FGFR1 GATA1 JAK2 NBEAL2 SATB2

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 29 RBM8A

Anatomical Context for Thrombocytopenia-Absent Radius Syndrome

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

41
Bone, Kidney, Bone Marrow, Brain, Heart, Skin, Cerebellum

Publications for Thrombocytopenia-Absent Radius Syndrome

Articles related to Thrombocytopenia-Absent Radius Syndrome:

(show top 50) (show all 76)
# Title Authors Year
1
Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome. ( 28857120 )
2017
2
Pregnancy in patients with thrombocytopenia and absent radii (TAR) syndrome. ( 28730453 )
2017
3
Thrombocytopenia-absent radius syndrome: prenatal diagnosis of a rare syndrome. ( 27141140 )
2016
4
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing. ( 27320760 )
2016
5
The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome. ( 27981927 )
2016
6
Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome. ( 25708036 )
2015
7
Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association. ( 25908903 )
2015
8
Thrombocytopenia and absent radius (TAR) syndrome in pregnancy. ( 26420700 )
2015
9
First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality. ( 24556603 )
2014
10
Total knee arthroplasty in a patient with thrombocytopenia-absent radius syndrome. ( 25275986 )
2014
11
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
12
Thrombocytopenia absent radius (TAR) syndrome: a case report and review for oral health care providers. ( 25346959 )
2014
13
Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. ( 21771154 )
2012
14
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
15
Thrombocytopenia and absent radii (TAR) syndrome associated with bilateral congenital cataract: a case report. ( 22742195 )
2012
16
Thrombocytopenia absent radius syndrome. ( 21885665 )
2011
17
Exacerbation of thrombocytopenia in a pregnant woman with thrombocytopenia-absent radius syndrome. ( 21530967 )
2011
18
Thrombocytopenia-absent radius syndrome. ( 22102274 )
2011
19
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
20
Thrombocytopenia absent radius (TAR) syndrome. ( 21776884 )
2011
21
Management of a parturient with TAR syndrome during caesarean section and the use of thromboelastography. ( 21907567 )
2011
22
Mitral valve repair in a patient with thrombocytopenia-absent radius syndrome: case report. ( 20961838 )
2010
23
Thrombocytopenia absent radius syndrome: presence of brachiocarpalis muscle and its importance. ( 19773129 )
2009
24
Maternal thrombocytopenia-absent radius syndrome complicated by severe pre-eclampsia. ( 19253167 )
2009
25
Management of a parturient with thrombocytopenia-absent-radius syndrome undergoing urgent caesarean section. ( 18162204 )
2008
26
Kidney stone and urinary bladder telangiectasia in a patient with TAR syndrome. ( 19102062 )
2008
27
Thumb function and appearance in thrombocytopenia: absent radius syndrome. ( 17275588 )
2007
28
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
29
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. ( 17236129 )
2007
30
Doubtful association between TAR syndrome and increased nuchal translucency in the first trimester of pregnancy. ( 16566044 )
2006
31
Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis. ( 15995562 )
2005
32
Increased nuchal translucency thickness in thrombocytopenia-absent-radius syndrome. ( 16184503 )
2005
33
Mayer-Rokitansky-KA1ster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome. ( 15705390 )
2005
34
Brief psychosis in thrombocytopenia-absent radius syndrome: a case report. ( 16168045 )
2005
35
First-trimester diagnosis of thrombocytopenia-absent radius (TAR) syndrome in a triplet pregnancy. ( 15849791 )
2005
36
A case of thrombocytopenia with absent radii (TAR syndrome). ( 16183594 )
2005
37
Thrombocytopenia and absent radii, TAR syndrome: report of cerebellar dysgenesis and newly identified cardiac and renal anomalies. ( 14598347 )
2003
38
Thrombocytopenia-absent radius syndrome: a clinical genetic study. ( 12471199 )
2002
39
Agenesis of cruciate ligaments and menisci causing severe knee dysplasia in TAR syndrome. ( 11483643 )
2001
40
Radiology case of the month. Congenital limb and bleeding disorder. Thrombocytopenia absent radius syndrome (TAR). ( 11125506 )
2000
41
Prenatal diagnosis of thrombocytopenia-absent-radius (TAR) syndrome. ( 10846784 )
2000
42
Thrombocytopenia with absent radii (TAR syndrome): new advances in the mechanism of thrombocytopenia. ( 11033726 )
2000
43
Tar syndrome with unilateral absent radius and associated esophageal atresia: a variant? ( 10798094 )
1999
44
Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery. ( 10073908 )
1999
45
Prenatal diagnosis of thrombocytopenia-absent radius syndrome. ( 8739592 )
1996
46
Thrombocytopenia absent radius syndrome and knee deformity. ( 7670996 )
1995
47
Thrombocytopenia with absent radii (TAR) syndrome: a new increased cellular radiosensitivity syndrome. ( 7727311 )
1995
48
Thrombocytopenia with absent radii (TAR) syndrome: a new increased cellular radiosensitivity syndrome. ( 8845331 )
1995
49
Prenatal diagnosis of thrombocytopenia in TAR syndrome. ( 8018194 )
1994
50
Prenatal diagnosis of thrombocytopenia in TAR syndrome. ( 8183844 )
1994

Variations for Thrombocytopenia-Absent Radius Syndrome

ClinVar genetic disease variations for Thrombocytopenia-Absent Radius Syndrome:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 RBM8A NM_005105.4(RBM8A): c.-21G> A single nucleotide variant Pathogenic/Likely pathogenic rs139428292 GRCh37 Chromosome 1, 145507646: 145507646
2 RBM8A NM_005105.4(RBM8A): c.-21G> A single nucleotide variant Pathogenic/Likely pathogenic rs139428292 GRCh38 Chromosome 1, 145927447: 145927447
3 RBM8A NM_005105.4(RBM8A): c.67+32G> C single nucleotide variant Pathogenic/Likely pathogenic rs201779890 GRCh38 Chromosome 1, 145927328: 145927328
4 RBM8A NM_005105.4(RBM8A): c.67+32G> C single nucleotide variant Pathogenic/Likely pathogenic rs201779890 GRCh37 Chromosome 1, 145507765: 145507765
5 RBM8A NM_005105.4(RBM8A): c.207_208insAGCG (p.Val70Serfs) insertion Pathogenic rs397515388 GRCh37 Chromosome 1, 145508476: 145508477
6 RBM8A NM_005105.4(RBM8A): c.207_208insAGCG (p.Val70Serfs) insertion Pathogenic rs397515388 GRCh38 Chromosome 1, 145926616: 145926617
7 RBM8A NM_005105.4(RBM8A): c.487C> T (p.Arg163Ter) single nucleotide variant Pathogenic rs397515389 GRCh37 Chromosome 1, 145509173: 145509173
8 RBM8A NM_005105.4(RBM8A): c.487C> T (p.Arg163Ter) single nucleotide variant Pathogenic rs397515389 GRCh38 Chromosome 1, 145925920: 145925920
9 covers 12 genes, none of which curated to show dosage sensitivity NC_000001.10 deletion Pathogenic GRCh37 Chromosome 1, 145413072: 145596903
10 RBM8A NC_000001.10: g.(?_145507647)_(145509231_?)del deletion Pathogenic GRCh37 Chromosome 1, 145507647: 145509231
11 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

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 ACTN1 FGF8 FGFR1 JAK2 TGFB3 THPO
2
Show member pathways
12.78 ACTN1 GATA1 GP1BA JAK2 MPL TGFB3
3 12.22 GATA1 GFI1B JAK2 MPL
4
Show member pathways
11.99 FGF8 FGFR1 TGFB3 THPO
5 11.58 JAK2 MPL THPO
6
Show member pathways
11.49 GP1BA MPL THPO
7 11.38 ENG FGFR1 TGFB3
8
Show member pathways
11.37 FGF8 FGFR1 JAK2 TGFB3 THPO
9 11.36 FGF8 FGFR1 TGFB3 THPO
10 10.99 JAK2 MPL THPO
11 10.99 ENG GP1BA MPL THPO

GO Terms for Thrombocytopenia-Absent Radius Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nuclear matrix GO:0016363 9.13 GFI1B JAK2 SATB2
2 cell surface GO:0009986 9.02 CALR ENG GP1BA MPL TGFB3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.71 FGF8 JAK2 TGFB3
2 heart development GO:0007507 9.71 ENG FGF8 GATA1 MKKS
3 positive regulation of cell proliferation GO:0008284 9.63 CALR FGF8 FGFR1 JAK2 TGFB3 THPO
4 positive regulation of protein kinase B signaling GO:0051897 9.62 ENG FGF8 FGFR1 THPO
5 myeloid cell differentiation GO:0030099 9.55 GATA1 THPO
6 heart looping GO:0001947 9.54 ENG FGF8 MKKS
7 generation of neurons GO:0048699 9.52 FGF8 FGFR1
8 gonad development GO:0008406 9.51 FGF8 MKKS
9 branching involved in salivary gland morphogenesis GO:0060445 9.49 FGF8 FGFR1
10 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.48 ENG FGF8
11 organ induction GO:0001759 9.46 FGF8 FGFR1
12 salivary gland morphogenesis GO:0007435 9.43 FGFR1 TGFB3
13 thrombopoietin-mediated signaling pathway GO:0038163 9.26 MPL THPO
14 platelet formation GO:0030220 9.13 ACTN1 GATA1 NBEAL2
15 platelet aggregation GO:0070527 8.92 ACTN1 GATA1 GP1BA MPL

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

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.33 FGF8 FGFR1 JAK2
2 transforming growth factor beta binding GO:0050431 9.32 ENG TGFB3
3 type I transforming growth factor beta receptor binding GO:0034713 8.96 ENG TGFB3
4 type II transforming growth factor beta receptor binding GO:0005114 8.62 ENG TGFB3
5 protein binding GO:0005515 10.13 ACTN1 ANKRD26 CALR ENG FGFR1 GATA1

Sources for Thrombocytopenia-Absent Radius Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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