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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Metachondromatosis
Glanzmann thrombasthenia

PTPN11 ITGA2B
ITGB3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTPN11
(0.63)
ITGB3



Citations in the biomedical literature:


Metachondromatosis
PTPN11
Glanzmann thrombasthenia
ITGA2B ITGB3



Metachondromatosis
Glanzmann thrombasthenia

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
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
External references:
1 OMIM reference -
No MeSH references

Metachondromatosis

Very frequent
- Autosomal dominant inheritance
- Bone pain
- Cranial nerves palsy
- Enchondroses
- Epiphyseal anomaly
- Exostoses
- Metaphyseal anomaly
- Osteonecrosis / bone infarction
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Periarticular tissue anomaly / extraarticular calcifications



Glanzmann thrombasthenia

(no data available)