TAR
MCID: THR009
MIFTS: 52

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 56 12 25 58 73 36 13 15 39
Tar Syndrome 56 74 24 52 25 58 73
Radial Aplasia-Thrombocytopenia Syndrome 12 25 73 29 6
Absent Radii and Thrombocytopenia 52 73 43
Chromosome 1q21.1 Deletion Syndrome, 200-Kb 56 25
Thrombocytopenia Absent Radius Syndrome 24 52
Thrombocytopenia Absent Radii 52 25
Tar 56 73
Radial Aplasia-Amegakaryocytic Thrombocytopenia 25
Thrombocytopenia with Absent Radii Syndrome 12
Upper Extremity Deformities, Congenital 43
Chromosome 1q21.1 Deletion Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
thrombocytopenia-absent radius syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

56
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:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


GeneReviews:

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

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


Summaries for Thrombocytopenia-Absent Radius Syndrome

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 cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less severe over time; in some cases the platelet levels become normal. Thrombocytopenia prevents normal blood clotting, resulting in easy bruising and frequent nosebleeds. Potentially life-threatening episodes of severe bleeding (hemorrhages) may occur in the brain and other organs, especially during the first year of life. Hemorrhages can damage the brain and lead to intellectual disability. Affected children who survive this period and do not have damaging hemorrhages in the brain usually have a normal life expectancy and normal intellectual development. The severity of skeletal problems in TAR syndrome varies among affected individuals. The radius, which is the bone on the thumb side of the forearm, is almost always missing in both arms. The other bone in the forearm, which is called the ulna, is sometimes underdeveloped or absent in one or both arms. TAR syndrome is unusual among similar malformations in that affected individuals have thumbs, while people with other conditions involving an absent radius typically do not. However, there may be other abnormalities of the hands, such as webbed or fused fingers (syndactyly) or curved pinky fingers (fifth finger clinodactyly). Some people with TAR syndrome also have skeletal abnormalities affecting the upper arms, legs, or hip sockets. Other features that can occur in TAR syndrome include malformations of the heart or kidneys. Some people with this disorder have unusual facial features including a small lower jaw (micrognathia), a prominent forehead, and low-set ears. About half of affected individuals have allergic reactions to cow's milk that may worsen the thrombocytopenia associated with this disorder.

MalaCards based summary : Thrombocytopenia-Absent Radius Syndrome, also known as tar syndrome, is related to chromosome 1q21.1 deletion syndrome, 1.35-mb and amegakaryocytic thrombocytopenia, congenital. An important gene associated with Thrombocytopenia-Absent Radius Syndrome is RBM8A (RNA Binding Motif Protein 8A), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Visual Cycle in Retinal Rods. Affiliated tissues include bone, kidney and brain, and related phenotypes are thrombocytopenia and abnormality of coagulation

Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (<50 platelets/nL) and that has material basis in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Thrombocytopenia-absent radius (TAR) syndrome is a rare autosomal recessive syndrome characterized by severe thrombocytopenia and bilateral defects in development of the radii at birth but with preservation of the thumb. Other physical abnormalities have been reported such as ulnar and humeral deformities, rib and cervical anomalies, cardiac lesions (usually septal defects), gastrointestinal and genitourinary abnormalities. Cow's milk allergy is highly prevalent in patients with TAR syndrome. TAR syndrome is caused by the compound (bi-allelic) inheritance of one of two noncoding single-nucleotide variants and a null allele in RBM8A. Clinical management is based on presentation, with platelet transfusions as required for thrombocytopenia and orthopedic intervention for functional optimization of upper limbs.

UniProtKB/Swiss-Prot : 73 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 : 74 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 301)
# Related Disease Score Top Affiliating Genes
1 chromosome 1q21.1 deletion syndrome, 1.35-mb 32.1 GPR89B GPR89A
2 amegakaryocytic thrombocytopenia, congenital 30.8 THPO RBM8A MPL ANKRD26
3 thrombocytopenia 30.1 THPO RBM8A NBEAL2 MPL ANKRD26
4 thrombocytopenia due to platelet alloimmunization 28.9 THPO MPL ANKRD26
5 perry syndrome 11.2
6 storage pool platelet disease 11.2
7 parapsoriasis 11.2
8 pustulosis of palm and sole 10.8
9 psoriasis 10.8
10 human immunodeficiency virus type 1 10.8
11 amyotrophic lateral sclerosis 1 10.7
12 lateral sclerosis 10.7
13 immune deficiency disease 10.6
14 dermatitis 10.6
15 frontotemporal dementia 10.5
16 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
17 dermatitis, atopic 10.4
18 skin disease 10.4
19 helix syndrome 10.3
20 mayer-rokitansky-kuster-hauser syndrome 10.3
21 langerhans cell histiocytosis 10.3
22 autosomal recessive disease 10.3
23 histiocytosis 10.3
24 sall4-related disorders 10.3
25 foodborne botulism 10.3
26 wound botulism 10.3
27 skin carcinoma 10.3
28 alzheimer disease 10.3
29 contact dermatitis 10.2
30 seborrheic dermatitis 10.2
31 lung cancer 10.2
32 squamous cell papilloma 10.2
33 papilloma 10.2
34 duodenum adenocarcinoma 10.2 RSPH14 HRAS
35 acute leukemia 10.2
36 thrombocytosis 10.2
37 thrombasthenia 10.2
38 bladder cancer 10.2
39 holt-oram syndrome 10.2
40 tetralogy of fallot 10.2
41 renal hypodysplasia/aplasia 1 10.2
42 wolf-hirschhorn syndrome 10.2
43 baller-gerold syndrome 10.2
44 diastrophic dysplasia 10.2
45 mckusick-kaufman syndrome 10.2
46 roberts syndrome 10.2
47 thyroid dyshormonogenesis 6 10.2
48 scoliosis 10.2
49 inguinal hernia 10.2
50 sensorineural hearing loss 10.2

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:

58 31 (show top 50) (show all 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia 58 31 very rare (1%) Very frequent (99-80%) HP:0001873
2 abnormality of coagulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001928
3 absent radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0003974
4 aplasia/hypoplasia of the ulna 58 31 hallmark (90%) Frequent (79-30%) HP:0006495
5 broad thumb 58 31 frequent (33%) Occasional (29-5%) HP:0011304
6 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
7 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
8 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
9 patellar dislocation 58 31 occasional (7.5%) Frequent (79-30%) HP:0002999
10 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
11 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
12 adducted thumb 58 31 frequent (33%) Occasional (29-5%) HP:0001181
13 genu varum 58 31 frequent (33%) Frequent (79-30%) HP:0002970
14 coxa valga 58 31 frequent (33%) Frequent (79-30%) HP:0002673
15 aplasia/hypoplasia of the patella 58 31 frequent (33%) Frequent (79-30%) HP:0006498
16 aplasia/hypoplasia of the humerus 58 31 very rare (1%) Frequent (79-30%) HP:0006507
17 tibial torsion 58 31 occasional (7.5%) Frequent (79-30%) HP:0100694
18 anemia 31 frequent (33%) HP:0001903
19 eosinophilia 31 frequent (33%) HP:0001880
20 patellar aplasia 31 frequent (33%) HP:0006443
21 cow milk allergy 31 frequent (33%) HP:0100327
22 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
23 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
24 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
25 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
26 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
27 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
28 abnormal cardiac septum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001671
29 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
30 phocomelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0009829
31 aplasia of the uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000151
32 cervical ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000891
33 fused cervical vertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0002949
34 fibular aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002990
35 axial malrotation of the kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0004717
36 nevus flammeus of the forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0007413
37 global developmental delay 31 occasional (7.5%) HP:0001263
38 strabismus 31 occasional (7.5%) HP:0000486
39 ptosis 31 occasional (7.5%) HP:0000508
40 coarctation of aorta 31 occasional (7.5%) HP:0001680
41 talipes equinovarus 31 occasional (7.5%) HP:0001762
42 malar flattening 31 occasional (7.5%) HP:0000272
43 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
44 abnormality of the shoulder 31 occasional (7.5%) HP:0003043
45 hepatosplenomegaly 31 occasional (7.5%) HP:0001433
46 short phalanx of finger 31 occasional (7.5%) HP:0009803
47 lateral clavicle hook 31 occasional (7.5%) HP:0000895
48 edema of the dorsum of hands 31 occasional (7.5%) HP:0007514
49 edema of the dorsum of feet 31 occasional (7.5%) HP:0012098
50 delayed cns myelination 31 occasional (7.5%) HP:0002188

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
delayed myelination
cavum septum pellucidum
intracranial bleed
hypoplasia of cerebellum
more
Head And Neck Head:
brachycephaly

Head And Neck Eyes:
strabismus
ptosis

Genitourinary Kidneys:
horseshoe kidney
axial malrotation of the kidney

Skeletal Pelvis:
hip dislocation
coxa valga

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

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
Head And Neck Face:
micrognathia

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

Skeletal Spine:
spina bifida

Skeletal Limbs:
tibial torsion
bilateral absence of radius
hypoplasia or unilateral/bilateral absence of ulna
abnormal humerus
knee subluxation
more
Skeletal Hands:
carpal bone hypoplasia
carpal bone fusion
thumbs always present
hypoplastic phalanges

Head And Neck Nose:
small, upturned nose

Skin Nails Hair Skin:
forehead nevus flammeus
dysseborrheic dermatitis

Clinical features from OMIM:

274000

Drugs & Therapeutics for Thrombocytopenia-Absent Radius Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Customized Self-Controlled Power-Driven or Mechanical Orthoses for the Upper Limb - A Pilot Study Recruiting NCT04199975
2 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study Recruiting NCT00027274
3 The Influence of 3D Printed Prostheses on Neural Activation Patterns of the Primary Motor Cortex in Children With Unilateral Congenital Upper-limb Reductions Recruiting NCT04110730
4 Evaluation of 3D Printed Myoelectric Prosthetics in Children With Upper Congenital Limb Deficiency Enrolling by invitation NCT04059107
5 Assessment of Neural and Motor Performance in Upper Limb Deficient Subjects Using Discrete and Continuous Tasks. Anatomical Differences of Brain Gray and White Matter Resulting From Unilateral Congenital Upper Limb Loss Not yet recruiting NCT04241588

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:

40
Bone, Kidney, Brain, Heart, Bone Marrow, Cortex, Cerebellum

Publications for Thrombocytopenia-Absent Radius Syndrome

Articles related to Thrombocytopenia-Absent Radius Syndrome:

(show top 50) (show all 192)
# Title Authors PMID Year
1
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. 61 6 24 56
22366785 2012
2
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. 61 56 24
17236129 2007
3
Thrombocytopenia-absent radius syndrome: a clinical genetic study. 56 24 61
12471199 2002
4
Thrombocytopenia with absent radius in a boy and his uncle. 61 56 24
3314504 1987
5
Parent to child transmission of the thrombocytopenia absent radius (TAR) syndrome. 24 56 61
3146292 1986
6
Thrombocytopenia Absent Radius Syndrome 6 61
20301781 2009
7
Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. 56 61
16440880 2005
8
Thrombocytopenia and absent radii, TAR syndrome: report of cerebellar dysgenesis and newly identified cardiac and renal anomalies. 56 61
14598347 2003
9
Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR). 56 61
9827898 1998
10
TAR-like syndrome in a consanguineous Mayan girl. 61 56
1642266 1992
11
Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis. 56 61
2179938 1990
12
Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations. 56 61
2816998 1989
13
Defective megakaryocytopoiesis in the syndrome of thrombocytopenia with absent radii. 56 61
3191031 1988
14
Thrombocytopenia and absent radius (TAR) syndrome. 56 61
3560171 1987
15
Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome). 61 56
3993682 1985
16
Radial aplasia and amegakaryocytic thrombocytopenia (TAR syndrome) among Nigerian children. 61 56
6702785 1984
17
Consanguinity in a Turkish family with thrombocytopenia with absent radii (TAR) syndrome. 56 61
6873943 1983
18
TAR syndrome: Dorsal pedal edema and excessive perspiration. 56 61
7416121 1980
19
Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome. 56 61
7211961 1980
20
Syndrome of thrombocytopenia and absent radii: qualitatively normal platelets with remission following spenectomy. 61 56
625630 1978
21
Congenital hypomegakaryocytic thrombocytopenia associated with bilateral absence of the radius - the TAR syndrome. 61 56
863461 1977
22
Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome. 61 24
25708036 2015
23
Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. 61 24
21771154 2012
24
Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling. 24 61
21635976 2011
25
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 56
21844811 2011
26
Exacerbation of thrombocytopenia in a pregnant woman with thrombocytopenia-absent radius syndrome. 61 24
21530967 2011
27
Maternal thrombocytopenia-absent radius syndrome complicated by severe pre-eclampsia. 24 61
19253167 2009
28
Thumb function and appearance in thrombocytopenia: absent radius syndrome. 61 24
17275588 2007
29
Mayer-Rokitansky-Küster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome. 24 61
15705390 2005
30
A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant. 56
10471509 1999
31
Management of thrombocytopenia-absent radius (TAR) syndrome. 61 24
10344309 1999
32
Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression, mdac. 56
8666395 1995
33
Thrombocytopenia-absent radii syndrome and lack of response to the pulsed dye laser. 56
2241212 1990
34
Thrombocytopenia with absent radii. A review of 100 cases. 24 61
3056062 1988
35
Dysplasia of the knee associated with the syndrome of thrombocytopenia and absent radius. 56
6699059 1984
36
Prenatal ultrasound diagnosis of thrombocytopenia with absent radii. 56
7282816 1981
37
Dactylaplasia in mice a two-locus model for development anomalies. 56
7288137 1981
38
Prenatal diagnosis of thrombocytopenia with absent radii. 56
466849 1979
39
Cows' milk allergy in the syndrome of thrombocytopenia with absent radius. 56
947152 1976
40
The phocomelia-thrombocytopenia syndrome. A follow-up report. 56
1112606 1975
41
Thrombocytopenia with absent radius (TAR). 56
4951233 1969
42
Trisomy 18, esophageal atresia, anomalies of the radius, and congenital hypoplastic thrombocytopenia. 56
6039929 1967
43
Phocomelia with congenital hypoplastic thrombocytopenia and myeloid leukemoid reactions. 56
6019750 1967
44
Congenital hypoplastic thrombocytopenia with skeletal deformaties in siblings. 56
13638337 1959
45
[Congenital hypoplastic thrombopenia with aplasia of the radius, a syndrome of multiple variations]. 56
13418935 1956
46
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. 24
19029900 2008
47
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. 24
18784092 2008
48
Association of Mayer-Rokitansky-Küster-Hauser syndrome with Thrombocytopenia Absent Radii syndrome: a rare presentation. 24
17537565 2008
49
The genes encoding the type II gonadotropin-releasing hormone receptor and the ribonucleoprotein RBM8A in humans overlap in two genomic loci. 24
11707068 2001
50
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A. 61
32227665 2020

Variations for Thrombocytopenia-Absent Radius Syndrome

ClinVar genetic disease variations for Thrombocytopenia-Absent Radius Syndrome:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RBM8A NC_000001.10:g.(?_145507647)_(145509231_?)deldeletion Pathogenic 528377 1:145507647-145509231
2 RBM8A NM_005105.5(RBM8A):c.-19G>TSNV Pathogenic 864870 1:145507648-145507648 1:145927445-145927445
3 RBM8A NM_005105.5(RBM8A):c.206-13C>ASNV Pathogenic 864871 1:145508462-145508462 1:145926631-145926631
4 RBM8A NM_005105.5(RBM8A):c.205+3_205+6deldeletion Pathogenic 864872 1:145508285-145508288 1:145926803-145926806
5 nsv491550deletion Pathogenic 21869
6 RBM8A NM_005105.5(RBM8A):c.67+32G>CSNV Pathogenic 30465 rs201779890 1:145507765-145507765 1:145927328-145927328
7 RBM8A NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs)insertion Pathogenic 30466 rs397515388 1:145508476-145508477 1:145926616-145926617
8 RBM8A NM_005105.4(RBM8A):c.487C>T (p.Arg163Ter)SNV Pathogenic 30467 rs397515389 1:145509173-145509173 1:145925920-145925920
9 covers 12 genes, none of which curated to show dosage sensitivity NC_000001.10:g.(?_145413072)_(145592772_145596903)deldeletion Pathogenic 40975 1:145413072-145596903
10 RBM8A NM_005105.5(RBM8A):c.-21G>ASNV Pathogenic/Likely pathogenic 30464 rs139428292 1:145507646-145507646 1:145927447-145927447
11 covers 14 genes, none of which curated to show dosage sensitivity GRCh37/hg19 1q21.1(chr1:145395604-145704146)copy number loss Likely pathogenic 625541 1:145395604-145704146
12 NC_000001.11:g.145601946_148597425deldeletion Likely pathogenic 692221
13 NC_000001.11:g.145919695T>CSNV Likely pathogenic 694601 rs61746197 1:145515394-145515394 1:145919695-145919695
14 RBM8A NM_005105.5(RBM8A):c.336_342+2deldeletion Likely pathogenic 849849 1:145508605-145508613 1:145926480-145926488
15 RBM8A NM_005105.5(RBM8A):c.68-3C>TSNV Uncertain significance 855599 1:145508013-145508013 1:145927080-145927080
16 RBM8A NM_005105.4(RBM8A):c.318C>T (p.Leu106=)SNV Benign/Likely benign 436518 rs139097271 1:145508587-145508587 1:145926506-145926506
17 RBM8A NM_005105.4(RBM8A):c.240C>T (p.Val80=)SNV Benign/Likely benign 436517 rs1806851 1:145508509-145508509 1:145926584-145926584
18 RBM8A NM_005105.5(RBM8A):c.68-6T>CSNV Benign 772505 1:145508010-145508010 1:145927083-145927083
19 covers 16 genes, none of which curated to show dosage sensitivity GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1copy number loss not provided 585236 1:145415156-145799615

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

7 (show all 14)
# CNVD ID Chromosome 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 11.26 THPO TBX6 TBX5
2 10.77 THPO MPL GNAZ
3 10.5 PRKACG HRAS

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 exon-exon junction complex GO:0035145 8.96 RBM8A EIF4A3
2 U2-type catalytic step 1 spliceosome GO:0071006 8.62 RBM8A EIF4A3

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

# Name GO ID Score Top Affiliating Genes
1 thrombopoietin-mediated signaling pathway GO:0038163 8.96 THPO MPL
2 intracellular pH reduction GO:0051452 8.62 GPR89B GPR89A

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated anion channel activity GO:0008308 8.62 GPR89B GPR89A

Sources for Thrombocytopenia-Absent Radius Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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