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1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
6 OMIM references -
2 associated genes
No signs/symptoms info
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Juvenile glaucoma

FBN1 CYP1B1
MYOC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FBN1
(0.75)
MYOC



Citations in the biomedical literature:


Glaucoma - ectopia - microspherophakia - stiff joints - short stature
FBN1
Juvenile glaucoma
CYP1B1 MYOC



Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Juvenile glaucoma

Synonym(s):
- Gemss syndrome

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

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

Glaucoma - ectopia - microspherophakia - stiff joints - short stature

Very frequent
- Autosomal dominant inheritance
- Glaucoma
- Lens dislocation / luxation / subluxation / ectopia lentis
- Short stature / dwarfism / nanism



Juvenile glaucoma

(no data available)