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GEMSS syndrome
Also Known As:
Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature syndrome
Networked:
1
relevant articles (
0
outcomes,
0
trials/studies)
Disease Context: Research Results
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
Congenital Abnormalities: 25723
Multiple Abnormalities: 211
GEMSS syndrome: 1
Eye Abnormalities: 95
Ectopia Lentis: 170
GEMSS syndrome: 1
Eye Diseases: 3522
Ocular Hypertension: 3271
Glaucoma: 24513
GEMSS syndrome: 1
Eye Abnormalities: 95
Ectopia Lentis: 170
GEMSS syndrome: 1
Lens Diseases: 7
Lens Subluxation: 197
Ectopia Lentis: 170
GEMSS syndrome: 1
Signs and Symptoms Pathological Conditions
Pathologic Processes: 10023
Growth Disorders: 2264
GEMSS syndrome: 1
Musculoskeletal Diseases: 719
Joint Diseases: 6509
GEMSS syndrome: 1
Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to GEMSS syndrome:
1.
Transforming Growth Factor beta (TGF-beta)
IBA
10/01/1995 - "
In situ hybridization showed a markedly enhanced gene expression of transforming growth factor beta 1. The sclerotic skin changes in GEMSS syndrome are the result of an abnormally increased production of normal collagen that might be attributable to the enhanced in situ production of transforming growth factor beta 1.
"
2.
Collagen
IBA
10/01/1995 - "
In situ hybridization showed a markedly enhanced gene expression of transforming growth factor beta 1. The sclerotic skin changes in GEMSS syndrome are the result of an abnormally increased production of normal collagen that might be attributable to the enhanced in situ production of transforming growth factor beta 1.
"