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1 OMIM reference -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
2 associated genes
11 signs/symptoms
Myelofibrosis with myeloid metaplasia
Isolated ectopia lentis

CALR ADAMTSL4
JAK2 FBN1
MPL
TET2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CALR
(0.52)
FBN1



Citations in the biomedical literature:


Myelofibrosis with myeloid metaplasia
CALR JAK2 MPL TET2
Isolated ectopia lentis
ADAMTSL4 FBN1



Myelofibrosis with myeloid metaplasia
Isolated ectopia lentis

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

Synonym(s):
- Ectopia lentis syndrome
- Familial ectopia lentis

Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare systemic or rheumatologic 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: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
2 MeSH references: C536184 / D004479

Isolated ectopia lentis

Very frequent
- Autosomal dominant inheritance
- Lens dislocation / luxation / subluxation / ectopia lentis
- Restricted joint mobility / joint stiffness / ankylosis

Frequent
- Depressed premaxillary region / midface
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Prognathism / prognathia

Occasional
- Cataract / lens opacification
- Chronic arterial hypertension
- Nystagmus
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Visual loss / blindness / amblyopia


Myelofibrosis with myeloid metaplasia

(no data available)