Cytoscape Web
Click node...


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

FBN1 CYP1B1
LTBP2
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
Congenital glaucoma
CYP1B1 LTBP2 MYOC



Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Congenital 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):
- Congenital malformations, deformations and chromosomal abnormalities -

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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
4 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



Congenital glaucoma

(no data available)