In recent years several methods have been proposed to assign pairwise mechanism-based similarity scores to human diseases. Despite their differences in approach and performance, these methods work in a somewhat similar manner: first a set of biomolecules genes, proteins, chemicals, etc. Since the similarity score between two diseases is defined based on the underlying molecular processes, a high score may hint at a shared cause, and therefore a similar treatment, for both diseases.
This is of great practical importance especially when a rare or newly-discovered disease, for which limited information is available, is found to be related to a disease with a known treatment. Thus, in this mini-review we briefly discuss the recently developed methods for computing mechanism-based disease-disease similarities. Primary infantile-onset glaucoma is a rare, potentially blinding disease that is due to malformation of the trabecular meshwork and aqueous outflow tracts goniotrabeculodysgenesis.
While goniotrabeculodysgenesis is typically an isolated finding, there are reports of primary infantile-onset glaucoma in the setting of collagen disorders, specifically Stickler syndrome and osteogenesis imperfecta. In Stickler syndrome, defects in type II or type XI collagen are commonly associated with craniofacial anomalies, hearing loss, hypermobile joints, and vitreoretinal abnormalities. Osteogenesis imperfecta is caused by disruption in type I collagen synthesis and is characterized by frequent bone fractures.
Both type I and type II collagens are major structural proteins in the trabecular meshwork of the eye and both of these collagen disorders show higher incidences of adult-onset glaucoma. Herein we review the association between primary infantile-onset glaucoma and collagen disorders, which gives insight into the development of the trabecular meshwork and the aqueous outflow tracts of the eye.
There is no specific positive diagnostic test. The diagnosis of INCPH is based on a high index of suspicion, a set of clinical criteria and exclusion of other causes of portal hypertension. Liver biopsy is mandatory to firmly rule out cirrhosis or other causes of liver diseases. The patency of splanchnic venous system should be also demonstrated. Most patients present with signs or symptoms of portal hypertension i.
