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1 OMIM reference -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
7 signs/symptoms
Myelofibrosis with myeloid metaplasia
Isolated trigonocephaly

CALR FGFR1
JAK2 FREM1
MPL
TET2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
JAK2
(0.63)
FGFR1



Citations in the biomedical literature:


Myelofibrosis with myeloid metaplasia
CALR JAK2 MPL TET2
Isolated trigonocephaly
FGFR1 FREM1



Myelofibrosis with myeloid metaplasia
Isolated trigonocephaly

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

Synonym(s):
- Non-syndromic metopic craniosynostosis

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

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

Isolated trigonocephaly

Very frequent
- Autosomal dominant inheritance
- Trigonocephaly

Frequent
- Broad nasal root
- Hypotelorism
- Prominent supraorbital ridge
- Synophris / synophrys

Occasional
- Omphalocele / exomphalos


Myelofibrosis with myeloid metaplasia

(no data available)