MCID: THR009
MIFTS: 59

Thrombocytopenia-Absent Radius Syndrome

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

Aliases & Classifications for Thrombocytopenia-Absent Radius Syndrome

MalaCards integrated aliases for Thrombocytopenia-Absent Radius Syndrome:

Name: Thrombocytopenia-Absent Radius Syndrome 53 12 24 55 71 36 13 14
Tar Syndrome 53 72 23 49 24 55 71
Radial Aplasia-Thrombocytopenia Syndrome 12 24 71 28
Absent Radii and Thrombocytopenia 49 71 41
Chromosome 1q21.1 Deletion Syndrome, 200-Kb 53 24
Thrombocytopenia Absent Radius Syndrome 23 49
Thrombocytopenia Absent Radii 49 24
Tar 53 71
Radial Aplasia-Amegakaryocytic Thrombocytopenia 24
Thrombocytopenia with Absent Radii Syndrome 12
Upper Extremity Deformities, Congenital 41
Chromosome 1q21.1 Deletion Syndrome 12

Characteristics:

Orphanet epidemiological data:

55
thrombocytopenia-absent radius syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
thrombocytopenia-absent radius syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


GeneReviews:

23
Penetrance Penetrance appears to be complete in individuals who have biallelic rbm8a pathogenic variants...

Classifications:



Summaries for Thrombocytopenia-Absent Radius Syndrome

NIH Rare Diseases : 49 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 amegakaryocytic thrombocytopenia, congenital and storage pool platelet disease, and has symptoms including finger syndactyly, scoliosis and sensorineural hearing impairment. 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 p70S6K Signaling. Affiliated tissues include bone, kidney and bone marrow, and related phenotypes are cellular and growth/size/body region

Genetics Home Reference : 24 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 : 53 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 : 71 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 : 72 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 52)
# Related Disease Score Top Affiliating Genes
1 amegakaryocytic thrombocytopenia, congenital 31.9 MPL THPO
2 storage pool platelet disease 31.9 GFI1B NBEAL2
3 thrombocytopenia 30.8 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 10.5 MPL THPO
8 dyskeratosis congenita, autosomal dominant 6 10.5 MPL THPO
9 human immunodeficiency virus type 1 10.3
10 autosomal dominant macrothrombocytopenia 10.3 ACTN1 GP1BA
11 myh-9 related disease 10.3 ANKRD26 GP1BA NBEAL2
12 primary thrombocytopenia 10.3 GP1BA MPL THPO
13 thrombocytopenic purpura, autoimmune 10.2 GP1BA MPL THPO
14 purpura 10.2 GP1BA MPL THPO
15 hemorrhagic disease 10.2 GP1BA MPL THPO
16 gray platelet syndrome 10.2 GATA1 GFI1B NBEAL2
17 thrombocytopenia 1 10.1 GATA1 THPO
18 acquired von willebrand syndrome 10.1 GP1BA JAK2
19 thrombocytosis 10.1 JAK2 MPL THPO
20 thrombocythemia 1 10.1 CALR MPL THPO
21 omodysplasia 10.0 SATB2 SLC26A2
22 tetralogy of fallot 10.0
23 langerhans cell histiocytosis 10.0
24 pre-eclampsia 10.0
25 severe pre-eclampsia 10.0
26 eclampsia 10.0
27 histiocytosis 10.0
28 retinitis pigmentosa and erythrocytic microcytosis 10.0 GATA1 JAK2
29 thrombocytopenia due to platelet alloimmunization 10.0 MPL THPO
30 hartsfield syndrome 9.9 FGF8 FGFR1
31 leukemia, chronic myeloid 9.9 HRAS JAK2 MPL THPO
32 megakaryocytic leukemia 9.9 GATA1 JAK2 THPO
33 blood coagulation disease 9.9 GP1BA JAK2 MPL THPO
34 blood platelet disease 9.9 GP1BA JAK2 MPL THPO
35 physical disorder 9.8 FGF8 MKKS SATB2 TGFB3
36 budd-chiari syndrome 9.8 CALR JAK2 MPL
37 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 9.8 FGFR1 JAK2
38 microform holoprosencephaly 9.8 FGF8 FGFR1
39 diamond-blackfan anemia 9.8 GATA1 JAK2 MPL THPO
40 lacrimoauriculodentodigital syndrome 9.7 FGF8 FGFR1 SATB2
41 polycythemia 9.7 CALR JAK2 MPL THPO
42 polycythemia vera 9.7 CALR JAK2 MPL THPO
43 leukemia, acute myeloid 9.6 GATA1 HRAS JAK2 MPL THPO
44 myelodysplastic syndrome 9.6 GATA1 HRAS JAK2 MPL THPO
45 hematologic cancer 9.6 ENG HRAS JAK2 MPL THPO
46 cleft palate, isolated 9.5 FGFR1 SATB2 TGFB3
47 orofacial cleft 9.4 FGF8 FGFR1 SATB2 TGFB3
48 cleft lip 9.4 FGFR1 SATB2 TGFB3
49 essential thrombocythemia 9.3 CALR GATA1 JAK2 MPL THPO
50 myeloproliferative neoplasm 9.3 CALR FGFR1 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:

53
NeurologicCentralNervousSystem:
seizures
delayed myelination
cavum septum pellucidum
intracranial bleed
hypoplasia of cerebellum
more
GrowthHeight:
short stature

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

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

SkeletalSpine:
spina bifida

SkeletalLimbs:
tibial torsion
bilateral absence of radius
hypoplasia or unilateral/bilateral absence of ulna
abnormal humerus
knee subluxation
more
HeadAndNeckNose:
small, upturned nose

SkinNailsHairSkin:
forehead nevus flammeus
dysseborrheic dermatitis

HeadAndNeckEyes:
ptosis
strabismus

HeadAndNeckHead:
brachycephaly

HeadAndNeckFace:
micrognathia

SkeletalHands:
carpal bone hypoplasia
carpal bone fusion
thumbs always present
hypoplastic phalanges

AbdomenPancreas:
pancreatic cysts

AbdomenGastrointestinal:
meckel diverticulum

Immunology:
hypogammaglobulinemia
cow's milk allergy

ChestRibsSternumClaviclesAndScapulae:
lateral clavicular hook

MuscleSoftTissue:
arm/shoulder muscle hypoplasia


Clinical features from OMIM:

274000

Human phenotypes related to Thrombocytopenia-Absent Radius Syndrome:

55 31 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
2 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
3 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
4 broad thumb 55 31 frequent (33%) Occasional (29-5%) HP:0011304
5 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
6 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
7 coxa valga 55 31 frequent (33%) Frequent (79-30%) HP:0002673
8 horseshoe kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0000085
9 thrombocytopenia 55 31 very rare (1%) Very frequent (99-80%) HP:0001873
10 hip dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0002827
11 broad forehead 55 31 frequent (33%) Frequent (79-30%) HP:0000337
12 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
13 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
14 tetralogy of fallot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001636
15 patellar dislocation 55 31 occasional (7.5%) Frequent (79-30%) HP:0002999
16 genu varum 55 31 frequent (33%) Frequent (79-30%) HP:0002970
17 high forehead 55 31 frequent (33%) Frequent (79-30%) HP:0000348
18 adducted thumb 55 31 frequent (33%) Occasional (29-5%) HP:0001181
19 abnormality of coagulation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001928
20 aplasia/hypoplasia of the patella 55 31 frequent (33%) Frequent (79-30%) HP:0006498
21 phocomelia 55 31 occasional (7.5%) Occasional (29-5%) HP:0009829
22 aplasia of the uterus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000151
23 cervical ribs 55 31 occasional (7.5%) Occasional (29-5%) HP:0000891
24 fused cervical vertebrae 55 31 occasional (7.5%) Occasional (29-5%) HP:0002949
25 fibular aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002990
26 absent radius 55 31 hallmark (90%) Very frequent (99-80%) HP:0003974
27 axial malrotation of the kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0004717
28 aplasia/hypoplasia of the ulna 55 31 hallmark (90%) Frequent (79-30%) HP:0006495
29 aplasia/hypoplasia of the humerus 55 31 very rare (1%) Frequent (79-30%) HP:0006507
30 nevus flammeus of the forehead 55 31 occasional (7.5%) Occasional (29-5%) HP:0007413
31 tibial torsion 55 31 occasional (7.5%) Frequent (79-30%) HP:0100694
32 seizures 31 HP:0001250
33 hepatosplenomegaly 31 occasional (7.5%) HP:0001433
34 malar flattening 31 occasional (7.5%) HP:0000272
35 ptosis 31 occasional (7.5%) HP:0000508
36 intellectual disability 31 HP:0001249
37 global developmental delay 31 occasional (7.5%) HP:0001263
38 anteverted nares 31 HP:0000463
39 short stature 31 very rare (1%) HP:0004322
40 brachycephaly 31 HP:0000248
41 anemia 31 frequent (33%) HP:0001903
42 strabismus 31 occasional (7.5%) HP:0000486
43 carpal bone hypoplasia 31 occasional (7.5%) HP:0001498
44 atrial septal defect 31 HP:0001631
45 coarctation of aorta 31 occasional (7.5%) HP:0001680
46 decreased antibody level in blood 31 HP:0004313
47 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
48 abnormality of the kidney 55 Occasional (29-5%)
49 pancreatic cysts 31 HP:0001737
50 seborrheic dermatitis 31 HP:0001051

MGI Mouse Phenotypes related to Thrombocytopenia-Absent Radius Syndrome:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 CALR FGF8 FGFR1 GATA1 GFI1B GP1BA
2 growth/size/body region MP:0005378 10.28 ANKRD26 CALR ENG FGF8 FGFR1 GATA1
3 cardiovascular system MP:0005385 10.25 ANKRD26 CALR ENG FGF8 FGFR1 GATA1
4 homeostasis/metabolism MP:0005376 10.24 GFI1B GP1BA HRAS JAK2 MKKS MPL
5 embryo MP:0005380 10.16 GFI1B JAK2 MPL SATB2 TGFB3 CALR
6 hematopoietic system MP:0005397 10.14 ENG FGF8 FGFR1 GATA1 GFI1B GP1BA
7 craniofacial MP:0005382 10.08 ENG FGF8 FGFR1 HRAS MKKS SATB2
8 mortality/aging MP:0010768 10.07 GATA1 GFI1B HRAS JAK2 MKKS MPL
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 28 RBM8A

Anatomical Context for Thrombocytopenia-Absent Radius Syndrome

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

38
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
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing. ( 27320760 )
2016
2
Thrombocytopenia-absent radius syndrome: prenatal diagnosis of a rare syndrome. ( 27141140 )
2016
3
Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association. ( 25908903 )
2015
4
Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome. ( 25708036 )
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
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
11
Thrombocytopenia-absent radius syndrome. ( 22102274 )
2011
12
Exacerbation of thrombocytopenia in a pregnant woman with thrombocytopenia-absent radius syndrome. ( 21530967 )
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
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. ( 17236129 )
2007
18
Thumb function and appearance in thrombocytopenia: absent radius syndrome. ( 17275588 )
2007
19
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
20
Brief psychosis in thrombocytopenia-absent radius syndrome: a case report. ( 16168045 )
2005
21
Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis. ( 15995562 )
2005
22
Mayer-Rokitansky-KA1ster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome. ( 15705390 )
2005
23
Increased nuchal translucency thickness in thrombocytopenia-absent-radius syndrome. ( 16184503 )
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
# 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 rs139428292 GRCh37 Chromosome 1, 145507646: 145507646
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.207_208insAGCG (p.Val70Serfs) insertion Pathogenic rs397515388 GRCh37 Chromosome 1, 145508476: 145508477
5 RBM8A NM_005105.4(RBM8A): c.487C> T (p.Arg163Ter) single nucleotide variant Pathogenic rs397515389 GRCh37 Chromosome 1, 145509173: 145509173
6 covers 12 genes, none of which curated to show dosage sensitivity NC_000001.10 deletion Pathogenic GRCh37 Chromosome 1, 145413072: 145596903

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
12.93 ACTN1 FGF8 FGFR1 HRAS JAK2 TGFB3
2
Show member pathways
12.73 FGF8 FGFR1 HRAS JAK2 TGFB3 THPO
3
Show member pathways
12.64 ACTN1 GATA1 GP1BA HRAS JAK2 MPL
4 12.55 FGF8 FGFR1 HRAS JAK2 TGFB3
5
Show member pathways
11.94 HRAS JAK2 MPL THPO
6 11.68 HRAS JAK2 TGFB3
7
Show member pathways
11.66 GP1BA MPL THPO
8
Show member pathways
11.59 FGF8 FGFR1 HRAS
9 11.52 ENG FGFR1 TGFB3
10 11.52 ENG GP1BA MPL THPO
11
Show member pathways
11.4 HRAS JAK2 TGFB3
12 11.16 FGFR1 HRAS JAK2 TGFB3
13 11.06 JAK2 MPL THPO
14 10.91 ENG FGF8 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 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 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.88 CALR FGF8 FGFR1 HRAS JAK2
2 regulation of apoptotic process GO:0042981 9.86 ACTN1 CALR JAK2 TGFB3
3 MAPK cascade GO:0000165 9.85 FGF8 FGFR1 HRAS JAK2
4 BMP signaling pathway GO:0030509 9.67 ENG FGF8 TGFB3
5 negative regulation of gene expression GO:0010629 9.67 ENG FGFR1 HRAS MKKS
6 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.54 ENG FGF8
7 gonad development GO:0008406 9.52 FGF8 MKKS
8 generation of neurons GO:0048699 9.51 FGF8 FGFR1
9 heart looping GO:0001947 9.5 ENG FGF8 MKKS
10 organ induction GO:0001759 9.46 FGF8 FGFR1
11 negative regulation of neuron apoptotic process GO:0043524 9.46 FGF8 HRAS JAK2 TGFB3
12 branching involved in salivary gland morphogenesis GO:0060445 9.43 FGF8 FGFR1
13 positive regulation of DNA replication GO:0045740 9.43 CALR HRAS TGFB3
14 salivary gland morphogenesis GO:0007435 9.4 FGFR1 TGFB3
15 thrombopoietin-mediated signaling pathway GO:0038163 8.96 MPL THPO
16 platelet formation GO:0030220 8.8 ACTN1 GATA1 NBEAL2

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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