MCID: THR009
MIFTS: 58

Thrombocytopenia-Absent Radius Syndrome

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


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 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 are TGF-Beta Pathway and PAK Pathway. Affiliated tissues include bone, kidney and bone marrow, and related phenotypes are finger syndactyly and scoliosis

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.

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.

Wikipedia : 76 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 all 48)
# Related Disease Score Top Affiliating Genes
1 amegakaryocytic thrombocytopenia, congenital 32.3 MPL THPO
2 storage pool platelet disease 32.2 GFI1B NBEAL2
3 thrombocytopenia 30.6 ANKRD26 GATA1 GP1BA MPL THPO
4 chromosome 1q21.1 deletion syndrome, 1.35-mb 11.2
5 perry syndrome 10.9
6 parapsoriasis 10.9
7 thrombocytopenia 3 10.7 MPL THPO
8 dyskeratosis congenita, autosomal dominant 6 10.5 MPL THPO
9 myh-9 related disease 10.4 ANKRD26 GP1BA NBEAL2
10 primary thrombocytopenia 10.4 GP1BA MPL THPO
11 autosomal dominant macrothrombocytopenia 10.4 ACTN1 GP1BA
12 thrombocytopenic purpura, autoimmune 10.4 GP1BA MPL THPO
13 human immunodeficiency virus type 1 10.3
14 purpura 10.3 GP1BA MPL THPO
15 gray platelet syndrome 10.2 GATA1 GFI1B NBEAL2
16 acquired von willebrand syndrome 10.1 GP1BA JAK2
17 thrombocytosis 10.1 JAK2 MPL THPO
18 hemorrhagic disease 10.1 JAK2 MPL THPO
19 thrombocytopenia 1 10.1 GATA1 THPO
20 thrombocythemia 1 10.1 CALR MPL THPO
21 leukemia 10.1
22 omodysplasia 10.0 SATB2 SLC26A2
23 tetralogy of fallot 10.0
24 langerhans cell histiocytosis 10.0
25 pre-eclampsia 10.0
26 severe pre-eclampsia 10.0
27 eclampsia 10.0
28 histiocytosis 10.0
29 thrombocytopenia due to platelet alloimmunization 10.0 MPL THPO
30 hartsfield syndrome 9.8 FGF8 FGFR1
31 megakaryocytic leukemia 9.8 GATA1 JAK2 THPO
32 blood coagulation disease 9.8 GP1BA JAK2 MPL THPO
33 blood platelet disease 9.8 GP1BA JAK2 MPL THPO
34 physical disorder 9.7 FGF8 MKKS SATB2 TGFB3
35 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 9.6 FGFR1 JAK2
36 lacrimoauriculodentodigital syndrome 9.5 FGF8 FGFR1 SATB2
37 polycythemia 9.4 CALR JAK2 MPL THPO
38 polycythemia vera 9.4 CALR JAK2 MPL THPO
39 trehalase deficiency 9.4 GFI1B HRAS MKKS SATB2 SLC26A2
40 leukemia, acute myeloid 9.3 GATA1 HRAS JAK2 MPL THPO
41 myelodysplastic syndrome 9.3 GATA1 HRAS JAK2 MPL THPO
42 orofacial cleft 9.1 FGF8 FGFR1 SATB2 TGFB3
43 essential thrombocythemia 8.9 CALR GATA1 JAK2 MPL THPO
44 myeloproliferative neoplasm 8.8 CALR FGFR1 JAK2 MPL
45 myelofibrosis 8.7 CALR GATA1 HRAS JAK2 MPL THPO
46 leukemia, chronic myeloid 8.4 FGFR1 GATA1 HRAS JAK2 MPL THPO
47 hematologic cancer 8.3 ENG FGFR1 HRAS JAK2 MPL THPO
48 bone marrow cancer 7.7 CALR FGFR1 GATA1 HRAS JAK2 MPL

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 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
47 abnormality of the kidney 59 Occasional (29-5%)
48 pancreatic cysts 32 HP:0001737
49 seborrheic dermatitis 32 HP:0001051
50 ventricular septal defect 32 very rare (1%) HP:0001629

MGI Mouse Phenotypes related to Thrombocytopenia-Absent Radius Syndrome:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 GP1BA JAK2 MKKS MPL NBEAL2 RBM8A
2 growth/size/body region MP:0005378 10.28 GATA1 HRAS JAK2 MKKS MPL RBM8A
3 cardiovascular system MP:0005385 10.25 MKKS SATB2 TGFB3 FGF8 FGFR1 GATA1
4 homeostasis/metabolism MP:0005376 10.24 ANKRD26 CALR ENG FGF8 FGFR1 GATA1
5 embryo MP:0005380 10.16 CALR ENG FGF8 FGFR1 GATA1 GFI1B
6 hematopoietic system MP:0005397 10.14 GFI1B GP1BA JAK2 MPL NBEAL2 TGFB3
7 craniofacial MP:0005382 10.08 ENG FGF8 FGFR1 HRAS MKKS SATB2
8 mortality/aging MP:0010768 10.07 CALR ENG FGF8 FGFR1 GATA1 GFI1B
9 nervous system MP:0003631 9.85 CALR ENG FGF8 FGFR1 HRAS MKKS
10 limbs/digits/tail MP:0005371 9.8 FGF8 FGFR1 MKKS SATB2 SLC26A2 TGFB3
11 respiratory system MP:0005388 9.5 ENG FGF8 GATA1 HRAS MKKS SATB2
12 skeleton MP:0005390 9.28 FGF8 FGFR1 GATA1 HRAS JAK2 NBEAL2

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, Uterus, Cerebellum

Publications for Thrombocytopenia-Absent Radius Syndrome

Articles related to Thrombocytopenia-Absent Radius Syndrome:

(show all 32)
# Title Authors Year
1
Thrombocytopenia-absent radius syndrome: prenatal diagnosis of a rare syndrome. ( 27141140 )
2016
2
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing. ( 27320760 )
2016
3
Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome. ( 25708036 )
2015
4
Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association. ( 25908903 )
2015
5
First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality. ( 24556603 )
2014
6
Total knee arthroplasty in a patient with thrombocytopenia-absent radius syndrome. ( 25275986 )
2014
7
Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. ( 21771154 )
2012
8
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
9
Thrombocytopenia absent radius syndrome. ( 21885665 )
2011
10
Exacerbation of thrombocytopenia in a pregnant woman with thrombocytopenia-absent radius syndrome. ( 21530967 )
2011
11
Thrombocytopenia-absent radius syndrome. ( 22102274 )
2011
12
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
13
Mitral valve repair in a patient with thrombocytopenia-absent radius syndrome: case report. ( 20961838 )
2010
14
Thrombocytopenia absent radius syndrome: presence of brachiocarpalis muscle and its importance. ( 19773129 )
2009
15
Maternal thrombocytopenia-absent radius syndrome complicated by severe pre-eclampsia. ( 19253167 )
2009
16
Management of a parturient with thrombocytopenia-absent-radius syndrome undergoing urgent caesarean section. ( 18162204 )
2008
17
Thumb function and appearance in thrombocytopenia: absent radius syndrome. ( 17275588 )
2007
18
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
19
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. ( 17236129 )
2007
20
Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis. ( 15995562 )
2005
21
Increased nuchal translucency thickness in thrombocytopenia-absent-radius syndrome. ( 16184503 )
2005
22
Mayer-Rokitansky-KA1ster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome. ( 15705390 )
2005
23
Brief psychosis in thrombocytopenia-absent radius syndrome: a case report. ( 16168045 )
2005
24
Thrombocytopenia-absent radius syndrome: a clinical genetic study. ( 12471199 )
2002
25
Radiology case of the month. Congenital limb and bleeding disorder. Thrombocytopenia absent radius syndrome (TAR). ( 11125506 )
2000
26
Prenatal diagnosis of thrombocytopenia-absent radius syndrome. ( 8739592 )
1996
27
Thrombocytopenia absent radius syndrome and knee deformity. ( 7670996 )
1995
28
Thrombocytopenia Absent Radius Syndrome ( 20301781 )
1993
29
Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis. ( 2179938 )
1990
30
Thrombocytopenia absent radius syndrome associated with renal insufficiency. ( 2407410 )
1990
31
Prenatal diagnosis of thrombocytopenia absent radius syndrome using ultrasound and fetoscopy. ( 6739436 )
1984
32
Thrombocytopenia, absent radius syndrome: report of two siblings and a review of the hematologic and genetic features. ( 7067207 )
1982

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 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

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.28 FGF8 FGFR1 HRAS JAK2 MPL TGFB3
2
Show member pathways
12.87 ACTN1 FGF8 FGFR1 HRAS JAK2 TGFB3
3
Show member pathways
12.68 FGF8 FGFR1 HRAS JAK2 TGFB3 THPO
4
Show member pathways
12.64 ACTN1 GATA1 GP1BA HRAS JAK2 MPL
5 12.49 FGF8 FGFR1 HRAS JAK2 TGFB3
6
Show member pathways
12.41 HRAS JAK2 MPL THPO
7 12.35 GATA1 GFI1B JAK2 MPL
8 11.67 JAK2 MPL THPO
9 11.65 HRAS JAK2 TGFB3
10
Show member pathways
11.62 GP1BA MPL THPO
11
Show member pathways
11.56 FGF8 FGFR1 HRAS
12 11.53 ENG FGFR1 TGFB3
13 11.52 ENG GP1BA MPL THPO
14
Show member pathways
11.11 FGF8 FGFR1 HRAS JAK2 TGFB3 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 cell surface GO:0009986 9.35 CALR ENG GP1BA MPL TGFB3
2 nuclear matrix GO:0016363 8.8 GFI1B JAK2 SATB2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.89 ACTN1 CALR JAK2 TGFB3
2 MAPK cascade GO:0000165 9.87 FGF8 FGFR1 HRAS JAK2
3 heart development GO:0007507 9.81 ENG FGF8 GATA1 MKKS
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.8 FGF8 FGFR1 HRAS THPO
5 negative regulation of gene expression GO:0010629 9.76 ENG FGFR1 HRAS MKKS
6 BMP signaling pathway GO:0030509 9.75 ENG FGF8 TGFB3
7 positive regulation of protein kinase B signaling GO:0051897 9.71 ENG FGF8 FGFR1 THPO
8 positive regulation of cell proliferation GO:0008284 9.63 CALR FGF8 FGFR1 HRAS JAK2 TGFB3
9 negative regulation of neuron apoptotic process GO:0043524 9.62 FGF8 HRAS JAK2 TGFB3
10 heart looping GO:0001947 9.61 ENG FGF8 MKKS
11 generation of neurons GO:0048699 9.58 FGF8 FGFR1
12 gonad development GO:0008406 9.56 FGF8 MKKS
13 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.55 ENG FGF8
14 organ induction GO:0001759 9.54 FGF8 FGFR1
15 positive regulation of DNA replication GO:0045740 9.54 CALR HRAS TGFB3
16 branching involved in salivary gland morphogenesis GO:0060445 9.52 FGF8 FGFR1
17 salivary gland morphogenesis GO:0007435 9.48 FGFR1 TGFB3
18 thrombopoietin-mediated signaling pathway GO:0038163 9.26 MPL THPO
19 platelet formation GO:0030220 9.13 ACTN1 GATA1 NBEAL2
20 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 9.26 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

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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