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Thrombocytopenia - absent radius
1 OMIM reference -
1 associated gene
41 connected diseases
34 signs/symptoms
Disease Type of connection
Richieri Costa-Pereira syndrome
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
Blackfan-Diamond anemia
Autosomal dominant hyper-IgE syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
17q11 microdeletion syndrome
Amyotrophic lateral sclerosis
Autosomal dominant methemoglobinemia
Beta-thalassemia intermedia
Beta-thalassemia major
Choroideremia
Delta-beta-thalassemia
Dominant beta-thalassemia
Heinz body anemia
Hemoglobin C - beta-thalassemia
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E - beta-thalassemia
Hemoglobin E disease
Hemoglobin Lepore - beta-thalassemia
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Sickle cell - beta-thalassemia disease
Sickle cell - hemoglobin C disease
Sickle cell - hemoglobin D disease
Sickle cell - hemoglobin E disease
Sickle cell anemia
Young adult-onset Parkinsonism
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Familial isolated congenital asplenia
Synonym(s):
- TAR syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
RBM8A Q9Y5S9605313
Very frequent
- Clotting / hemostasis disorders
- Insterstitial / subtelomeric microdeletion / deletion
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Thrombocytopenia / thrombopenia

Frequent
- Broad forehead
- Clinodactyly of fifth finger
- Genu varum
- High forehead
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Intestinal transit disorder
- Low set ears / posteriorly rotated ears
- Patella absent / abnormal (excluding luxation)
- Patella dislocation
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Occasional
- Broad / bifid thumb
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cardiac septal defect
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Ectopic / horseshoe / fused kidneys
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Phocomelia
- Rib number anomalies
- Scoliosis
- Sensorineural deafness / hearing loss
- Structural anomalies of the kidney and the urinary tract
- Syndactyly of fingers / interdigital palm
- Tetralogy of Fallot / trilogy of Fallot
- Uterine / uterus / Fallopian tubes anomalies
- Vertebral segmentation anomaly / hemivertebrae