Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
6 associated genes
No signs/symptoms info
Metachondromatosis
Fetal and neonatal alloimmune thrombocytopenia

PTPN11 CD109
GP1BA
GP1BB
ITGA2
ITGA2B
ITGB3


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Metachondromatosis
PTPN11
Fetal and neonatal alloimmune thrombocytopenia
CD109 GP1BA GP1BB ITGA2 ITGA2B ITGB3



Metachondromatosis
Fetal and neonatal alloimmune thrombocytopenia

Synonym(s):
(no synonyms)

Synonym(s):
- NAIT

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Certain conditions originating in the perinatal period -

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:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
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



Fetal and neonatal alloimmune thrombocytopenia

(no data available)