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Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
1 OMIM reference -
1 associated gene
4 connected diseases
9 signs/symptoms
Disease Type of connection
Alveolar rhabdomyosarcoma
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Synonym(s):
- ATRUS 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HOXA11 P31270142958
Very frequent
- Autosomal dominant inheritance
- Clinodactyly of fifth finger
- Radioulnar synostosis

Frequent
- Thrombocytopenia / thrombopenia

Occasional
- Anaemia
- Bone marrow failure / pancytopenia
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Sensorineural deafness / hearing loss
- Syndactyly of fingers / interdigital palm