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Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital glaucoma
Weill-Marchesani syndrome
Autosomal dominant cutis laxa
Autosomal recessive cutis laxa type 1
Hereditary sensorimotor neuropathy with hyperelastic skin
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Synonym(s):
- Megalocornea - spherophakia - secondary glaucoma
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
LTBP2 Q14767602091
No signs/symptoms info available.