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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
4 associated genes
No signs/symptoms info
Metachondromatosis
Myelofibrosis with myeloid metaplasia

PTPN11 CALR
JAK2
MPL
TET2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTPN11
PTPN11
(0.96)
(0.52)
JAK2
MPL



Citations in the biomedical literature:


Metachondromatosis
PTPN11
Myelofibrosis with myeloid metaplasia
CALR JAK2 MPL TET2



Metachondromatosis
Myelofibrosis with myeloid metaplasia

Synonym(s):
(no synonyms)

Synonym(s):
- Agnogenic myeloid metaplasia
- Idiopathic myelofibrosis
- Myelosclerosis with myeloid metaplasia
- Primary myelofibrosis

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

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:
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



Myelofibrosis with myeloid metaplasia

(no data available)