TAR
MCID: THR009
MIFTS: 51

Thrombocytopenia-Absent Radius Syndrome (TAR)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Thrombocytopenia-Absent Radius Syndrome

MalaCards integrated aliases for Thrombocytopenia-Absent Radius Syndrome:

Name: Thrombocytopenia-Absent Radius Syndrome 57 11 42 58 73 12 14
Tar Syndrome 57 24 19 42 58 75 73
Radial Aplasia-Thrombocytopenia Syndrome 11 42 73 28 5
Absent Radii and Thrombocytopenia 19 73 43
Chromosome 1q21.1 Deletion Syndrome, 200-Kb 57 42
Thrombocytopenia Absent Radius Syndrome 24 19
Thrombocytopenia Absent Radii 19 42
Tar 57 73
Radial Aplasia-Amegakaryocytic Thrombocytopenia 42
Thrombocytopenia with Absent Radii Syndrome 11
Chromosome 1q21.1 Deletion Syndrome 11

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

1-9/1000000 (Europe) 58

Age Of Onset:

Antenatal,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
approximately 40% of patients die within newborn period
severity of hematologic disorder decreases with advancing age


GeneReviews:

24
Penetrance Penetrance appears to be complete in individuals who have biallelic rbm8a pathogenic variants (a heterozygous null allele in trans with a hypomorphic allele).

Classifications:

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


Summaries for Thrombocytopenia-Absent Radius Syndrome

MedlinePlus Genetics: 42 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 thrombocytopenia and chromosome 1q21.1 deletion syndrome, 1.35-mb. 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, bone marrow and kidney, and related phenotypes are thrombocytopenia and abnormality of coagulation

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) (Updated 24-Oct-2022)

GARD: 19 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. 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.

Disease Ontology: 11 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 (less than 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.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

Wikipedia: 75 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 422)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenia 31.2 THPO RBM8A NBEAL2 MPL ANKRD26
2 chromosome 1q21.1 deletion syndrome, 1.35-mb 30.7 GPR89B GPR89A
3 mayer-rokitansky-kuster-hauser syndrome 30.4 TBX6 OR2T2
4 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 30.4 TBX6 OR2T2
5 blood platelet disease 30.1 THPO NBEAL2 MPL ERCC6 ANKRD26
6 thrombocytopenia due to platelet alloimmunization 29.6 THPO MPL ANKRD26
7 lung cancer 11.0
8 human immunodeficiency virus type 1 10.7
9 psoriasis 1 10.7
10 psoriasis 2 10.7
11 psoriasis 7 10.7
12 psoriasis 11 10.7
13 psoriasis 13 10.7
14 psoriasis 10.7
15 immune deficiency disease 10.6
16 amyotrophic lateral sclerosis 1 10.6
17 lateral sclerosis 10.6
18 frontotemporal dementia 10.6
19 grn-related frontotemporal lobar degeneration 10.5
20 dermatitis 10.5
21 chronic bilirubin encephalopathy 10.5
22 dermatitis, atopic 10.4
23 skin disease 10.4
24 lactose intolerance 10.3
25 enterocele 10.3
26 helix syndrome 10.3
27 foodborne botulism 10.3
28 wound botulism 10.3
29 char syndrome 10.3
30 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
31 langerhans cell histiocytosis 10.3
32 histiocytosis 10.3
33 skin carcinoma 10.2
34 hemochromatosis, type 2a 10.2 GPR89B GPR89A
35 qualitative platelet defect 10.2 THPO ANKRD26
36 glanzmann thrombasthenia 1 10.2
37 hydronephrosis 10.2
38 thrombocytosis 10.2
39 thrombasthenia 10.2
40 alzheimer disease, familial, 1 10.2
41 dyskeratosis congenita, autosomal dominant 6 10.2 THPO MPL
42 bladder cancer 10.2
43 seborrheic dermatitis 10.2
44 thrombocythemia 1 10.1 THPO MPL
45 tobacco addiction 10.1
46 contact dermatitis 10.1
47 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.1
48 chromosome 1p36 deletion syndrome 10.1 TBX5 GPR89B GPR89A
49 splenic sequestration 10.1 THPO MPL
50 stormorken syndrome 10.1 PRKACG NBEAL2 ANKRD26

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 30 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001873
2 abnormality of coagulation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001928
3 absent radius 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003974
4 broad thumb 58 30 Frequent (33%) Occasional (29-5%)
HP:0011304
5 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0004209
6 low-set, posteriorly rotated ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000368
7 hip dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002827
8 patellar dislocation 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0002999
9 broad forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0000337
10 high forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0000348
11 genu varum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002970
12 coxa valga 58 30 Frequent (33%) Frequent (79-30%)
HP:0002673
13 aplasia/hypoplasia of the ulna 58 30 Frequent (33%) Frequent (79-30%)
HP:0006495
14 aplasia/hypoplasia of the patella 58 30 Frequent (33%) Frequent (79-30%)
HP:0006498
15 aplasia/hypoplasia of the humerus 58 30 Very rare (1%) Frequent (79-30%)
HP:0006507
16 tibial torsion 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0100694
17 eosinophilia 30 Frequent (33%) HP:0001880
18 patellar aplasia 30 Frequent (33%) HP:0006443
19 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
20 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
21 cleft palate 58 30 Very rare (1%) Occasional (29-5%)
HP:0000175
22 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
23 horseshoe kidney 58 30 Very rare (1%) Occasional (29-5%)
HP:0000085
24 tetralogy of fallot 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001636
25 abnormal cardiac septum morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001671
26 adducted thumb 58 30 Very rare (1%) Occasional (29-5%)
HP:0001181
27 finger syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006101
28 phocomelia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009829
29 aplasia of the uterus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000151
30 cervical ribs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000891
31 fused cervical vertebrae 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002949
32 fibular aplasia 58 30 Very rare (1%) Occasional (29-5%)
HP:0002990
33 axial malrotation of the kidney 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004717
34 nevus flammeus of the forehead 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007413
35 ptosis 30 Occasional (7.5%) HP:0000508
36 global developmental delay 30 Occasional (7.5%) HP:0001263
37 strabismus 30 Occasional (7.5%) HP:0000486
38 talipes equinovarus 30 Occasional (7.5%) HP:0001762
39 malar flattening 30 Occasional (7.5%) HP:0000272
40 cerebellar hypoplasia 30 Occasional (7.5%) HP:0001321
41 hepatosplenomegaly 30 Occasional (7.5%) HP:0001433
42 short phalanx of finger 30 Occasional (7.5%) HP:0009803
43 lateral clavicle hook 30 Occasional (7.5%) HP:0000895
44 delayed cns myelination 30 Occasional (7.5%) HP:0002188
45 carpal bone hypoplasia 30 Occasional (7.5%) HP:0001498
46 cavum septum pellucidum 30 Occasional (7.5%) HP:0002389
47 abnormal shoulder morphology 30 Occasional (7.5%) HP:0003043
48 intellectual disability 30 Very rare (1%) HP:0001249
49 cataract 30 Very rare (1%) HP:0000518
50 corneal opacity 30 Very rare (1%) HP:0007957

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
seizures
delayed myelination
cavum septum pellucidum
intracranial bleed
hypoplasia of cerebellum
more
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
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

Head And Neck Eyes:
ptosis
strabismus

Head And Neck Head:
brachycephaly

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 (Updated 24-Oct-2022)

Drugs & Therapeutics for Thrombocytopenia-Absent Radius Syndrome

Search Clinical Trials, NIH Clinical Center for Thrombocytopenia-Absent Radius Syndrome

Cochrane evidence based reviews: absent radii and thrombocytopenia

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

Organs/tissues related to Thrombocytopenia-Absent Radius Syndrome:

MalaCards : Bone, Bone Marrow, Kidney, Brain, Heart, Uterus, Cerebellum
ODiseA: Blood And Bone Marrow, Kidney

Publications for Thrombocytopenia-Absent Radius Syndrome

Articles related to Thrombocytopenia-Absent Radius Syndrome:

(show top 50) (show all 235)
# 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. 62 24 57 5
22366785 2012
2
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. 62 24 57 5
17236129 2007
3
Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome. 62 24 5
28857120 2017
4
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing. 62 24 5
27320760 2016
5
Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report. 62 24 5
24220582 2014
6
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report. 62 24 5
24053387 2013
7
Thrombocytopenia-absent radius syndrome: a clinical genetic study. 62 24 57
12471199 2002
8
Thrombocytopenia with absent radius in a boy and his uncle. 62 24 57
3314504 1987
9
Parent to child transmission of the thrombocytopenia absent radius (TAR) syndrome. 62 24 57
3146292 1986
10
Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. 62 57
16440880 2005
11
Thrombocytopenia and absent radii, TAR syndrome: report of cerebellar dysgenesis and newly identified cardiac and renal anomalies. 62 57
14598347 2003
12
Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR). 62 57
9827898 1998
13
TAR-like syndrome in a consanguineous Mayan girl. 62 57
1642266 1992
14
Thrombocytopenia-absent radii syndrome and lack of response to the pulsed dye laser. 62 57
2241212 1990
15
Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis. 62 57
2179938 1990
16
Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations. 62 57
2816998 1989
17
Defective megakaryocytopoiesis in the syndrome of thrombocytopenia with absent radii. 62 57
3191031 1988
18
Thrombocytopenia and absent radius (TAR) syndrome. 62 57
3560171 1987
19
Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome). 62 57
3993682 1985
20
Radial aplasia and amegakaryocytic thrombocytopenia (TAR syndrome) among Nigerian children. 62 57
6702785 1984
21
Consanguinity in a Turkish family with thrombocytopenia with absent radii (TAR) syndrome. 62 57
6873943 1983
22
TAR syndrome: Dorsal pedal edema and excessive perspiration. 62 57
7416121 1980
23
Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome. 62 57
7211961 1980
24
Syndrome of thrombocytopenia and absent radii: qualitatively normal platelets with remission following spenectomy. 62 57
625630 1978
25
Congenital hypomegakaryocytic thrombocytopenia associated with bilateral absence of the radius - the TAR syndrome. 62 57
863461 1977
26
Prenatal Diagnosis and Management of Thrombocytopenia-Absent Radius Syndrome. 62 24
35641461 2022
27
Thrombocytopenia With Absent Radii Syndrome With an Unusual Urological Pathology: A Case Report. 62 24
35463560 2022
28
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. 62 24
34341987 2021
29
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis. 5
34355501 2021
30
T-Cell Acute Lymphoblastic Leukemia in a Young Adult With Thrombocytopenia-absent Radius Syndrome: A Case Report and Review of the Literature. 62 24
32815886 2021
31
[Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome]. 62 24
34323054 2021
32
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease. 62 24
33559987 2021
33
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A. 62 24
32227665 2020
34
Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects. 62 24
32127157 2020
35
Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias. 62 24
32109542 2020
36
1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes. 62 24
31836590 2019
37
Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome: An association not previously described. 62 24
31006900 2019
38
Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature. 62 24
28259746 2018
39
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. 5
28983057 2018
40
Pregnancy in patients with thrombocytopenia and absent radii (TAR) syndrome. 62 24
28730453 2017
41
Clinical utility of array comparative genomic hybridisation in prenatal setting. 5
27846804 2016
42
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. 5
26136524 2015
43
Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome. 62 24
25708036 2015
44
Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association. 62 24
25908903 2015
45
Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case. 62 24
26550033 2015
46
Thrombocytopenia absent radius (TAR) syndrome: a case report and review for oral health care providers. 62 24
25346959 2014
47
A new approach for molecular diagnosis of TAR syndrome. 62 24
24769264 2014
48
Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach. 5
23754559 2013
49
Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. 62 24
21771154 2012
50
Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome. 62 24
21933853 2012

Variations for Thrombocytopenia-Absent Radius Syndrome

ClinVar genetic disease variations for Thrombocytopenia-Absent Radius Syndrome:

5 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIX1L-AS1, RBM8A NM_005105.5(RBM8A):c.-19G>T SNV Pathogenic
864870 rs760383043 GRCh37: 1:145507648-145507648
GRCh38: 1:145927445-145927445
2 RBM8A NM_005105.5(RBM8A):c.206-13C>A SNV Pathogenic
864871 rs1350809730 GRCh37: 1:145508462-145508462
GRCh38: 1:145926631-145926631
3 RBM8A NM_005105.5(RBM8A):c.205+3_205+6del DEL Pathogenic
864872 rs1648185461 GRCh37: 1:145508285-145508288
GRCh38: 1:145926803-145926806
4 overlap with 18 genes GRCh37/hg19 1q21.1(chr1:145038814-145747463) CN LOSS Pathogenic
1333003 GRCh37: 1:145038814-145747463
GRCh38:
5 RBM8A DEL Pathogenic
1333010 GRCh37: 1:145505730-145513586
GRCh38:
6 overlap with 12 genes NC_000001.10:g.(?_145414782)_(145610584_?)del DEL Pathogenic
1459111 GRCh37: 1:145414782-145610584
GRCh38:
7 overlap with 12 genes NC_000001.10:g.(?_145413072)_(145592772_145596903)del DEL Pathogenic
40975 GRCh37: 1:145413072-145596903
GRCh38:
8 RBM8A NC_000001.10:g.(?_145507647)_(145509231_?)del DEL Pathogenic
528377 GRCh37: 1:145507647-145509231
GRCh38:
9 LIX1L-AS1, RBM8A NM_005105.5(RBM8A):c.67+34G>C SNV Pathogenic
1686123 GRCh37: 1:145507767-145507767
GRCh38: 1:145927326-145927326
10 LIX1L-AS1, RBM8A NM_005105.5(RBM8A):c.-19G>A SNV Pathogenic
1686124 GRCh37: 1:145507648-145507648
GRCh38: 1:145927445-145927445
11 RBM8A NM_005105.5(RBM8A):c.343-2A>G SNV Pathogenic
1232306 GRCh37: 1:145508914-145508914
GRCh38: 1:145926179-145926179
12 LIX1L-AS1, RBM8A NM_005105.5(RBM8A):c.67+32G>C SNV Pathogenic
30465 rs201779890 GRCh37: 1:145507765-145507765
GRCh38: 1:145927328-145927328
13 RBM8A NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs) INSERT Pathogenic
30466 rs397515388 GRCh37: 1:145508476-145508477
GRCh38: 1:145926616-145926617
14 RBM8A NM_005105.5(RBM8A):c.487C>T (p.Arg163Ter) SNV Pathogenic
30467 rs397515389 GRCh37: 1:145509173-145509173
GRCh38: 1:145925920-145925920
15 LIX1L-AS1, RBM8A NM_005105.5(RBM8A):c.-21G>A SNV Pathogenic/Likely Pathogenic
30464 rs139428292 GRCh37: 1:145507646-145507646
GRCh38: 1:145927447-145927447
16 overlap with 14 genes GRCh37/hg19 1q21.1(chr1:145395604-145704146) CN LOSS Likely Pathogenic
625541 GRCh37: 1:145395604-145704146
GRCh38:
17 overlap with 72 genes NC_000001.11:g.145601946_148597425del DEL Likely Pathogenic
692221 GRCh37:
GRCh38: 1:145601946-148597425
18 RBM8A NM_005105.5(RBM8A):c.*6C>G SNV Likely Pathogenic
95245 rs12079762 GRCh37: 1:145509217-145509217
GRCh38: 1:145925876-145925876
19 RBM8A NM_005105.5(RBM8A):c.336_342+2del DEL Likely Pathogenic
849849 rs1648166006 GRCh37: 1:145508605-145508613
GRCh38: 1:145926480-145926488
20 LIX1L-AS1, RBM8A NM_005105.5(RBM8A):c.68-3C>T SNV Uncertain Significance
855599 rs782317879 GRCh37: 1:145508013-145508013
GRCh38: 1:145927080-145927080
21 RBM8A NM_005105.5(RBM8A):c.479G>A (p.Arg160Lys) SNV Uncertain Significance
1503560 GRCh37: 1:145509052-145509052
GRCh38: 1:145926041-145926041
22 RBM8A NM_005105.5(RBM8A):c.265A>G (p.Ile89Val) SNV Likely Benign
798253 rs201156815 GRCh37: 1:145508534-145508534
GRCh38: 1:145926559-145926559
23 RBM8A NM_005105.5(RBM8A):c.342+19T>C SNV Likely Benign
1631158 GRCh37: 1:145508630-145508630
GRCh38: 1:145926463-145926463
24 LIX1L-AS1, RBM8A NM_005105.5(RBM8A):c.128-7C>T SNV Likely Benign
1570743 GRCh37: 1:145508200-145508200
GRCh38: 1:145926893-145926893
25 RBM8A NM_005105.5(RBM8A):c.205+17C>A SNV Benign
1217054 GRCh37: 1:145508301-145508301
GRCh38: 1:145926792-145926792
26 RBM8A NM_005105.5(RBM8A):c.479+15G>A SNV Benign
1239758 GRCh37: 1:145509067-145509067
GRCh38: 1:145926026-145926026
27 RBM8A NM_005105.5(RBM8A):c.240C>T (p.Val80=) SNV Benign
436517 rs1806851 GRCh37: 1:145508509-145508509
GRCh38: 1:145926584-145926584
28 LIX1L-AS1, RBM8A NM_005105.5(RBM8A):c.68-6T>C SNV Benign
772505 rs112273321 GRCh37: 1:145508010-145508010
GRCh38: 1:145927083-145927083
29 RBM8A NM_005105.5(RBM8A):c.318C>T (p.Leu106=) SNV Benign
436518 rs139097271 GRCh37: 1:145508587-145508587
GRCh38: 1:145926506-145926506
30 overlap with 16 genes GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1 CN LOSS Not Provided
585236 GRCh37: 1:145415156-145799615
GRCh38:

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

6 (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 Thrombocytopenia-absent radius syndrome
5 17320 1 142400000 148000000 Microdeletion HJV 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

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 U2-type catalytic step 1 spliceosome GO:0071006 8.92 RBM8A EIF4A3

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

# Name GO ID Score Top Affiliating Genes
1 intracellular pH reduction GO:0051452 9.46 GPR89B GPR89A
2 thrombopoietin-mediated signaling pathway GO:0038163 9.26 THPO MPL
3 regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:2000622 8.92 RBM8A EIF4A3

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 8.92 GPR89B GPR89A

Sources for Thrombocytopenia-Absent Radius Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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