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Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
1 OMIM reference -
1 associated gene
17 signs/symptoms
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty

CBFB
(UniProt - OMIM)
 RUNX2
(UniProt - OMIM)
FLT3
(UniProt - OMIM)
KIT
(UniProt - OMIM)
MYH11
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CBFB
(0.59)
RUNX2


Citations in the biomedical literature:


Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
CBFB FLT3 KIT MYH11
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
RUNX2



Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty

Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty

Very frequent
- Autosomal dominant inheritance
- Beaked nose
- Dental staining anomaly / spotted teeth / erythrodontia
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short hand / brachydactyly
- Short philtrum
- Short stature / dwarfism / nanism
- Thin / retracted lips

Frequent
- Abnormal vertebral size / shape
- Camptodactyly of fingers
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Mutiple fractures / bone fragility


Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)

(no data available)