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type 1 Stickler syndrome

Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Stickler Syndrome Type I is an autosomal dominant condition and mutations in the COL2A1 gene have been identified. OMIM: 108300
Also Known As:
Stickler syndrome, type 1; Arthroophthalmopathy, hereditary progressive; Hereditary Arthro-Ophthalmo-Dystrophy; Hereditary Arthro-Ophthalmopathy; Stickler Dysplasia; Stickler Syndrome; Stickler Syndrome, Type I; Stickler syndrome, membranous vitreous type; Stickler syndrome, vitreous type 1
Networked: 166 relevant articles (3 outcomes, 13 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Retinal Detachment (Retinal Detachments)
2. Retinal Perforations
3. type 1 Stickler syndrome
4. Myopia
5. Pierre Robin Syndrome (Syndrome, Pierre Robin)

Experts

1. Snead, Martin P: 13 articles (01/2022 - 01/2003)
2. Richards, Allan J: 11 articles (01/2022 - 01/2003)
3. McNinch, Annie: 6 articles (01/2022 - 06/2010)
4. Scott, John D: 6 articles (08/2014 - 01/2003)
5. Alexander, Philip: 5 articles (01/2022 - 01/2019)
6. Poulson, Arabella V: 5 articles (10/2016 - 06/2007)
7. Richards, A J: 4 articles (04/2015 - 04/2000)
8. Snead, M P: 4 articles (04/2015 - 04/2000)
9. Blair, Michael P: 3 articles (01/2022 - 07/2011)
10. McNinch, Annie M: 3 articles (01/2021 - 08/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to type 1 Stickler syndrome:
1. Retinaldehyde (Retinal)IBA
2. Collagen Type II (Type II Collagen)IBA
3. CollagenIBA
4. Nonsense Codon (Nonsense Mutation)IBA
5. ethanoxyhexamercarbideIBA
6. Collagen Type XIIBA
7. ProcollagenIBA
8. DNA (Deoxyribonucleic Acid)IBA
9. Codon (Codons)IBA
10. Collagen Type IXIBA

Therapies and Procedures

1. Cryotherapy (Therapy, Cold)
2. Lasers (Laser)
3. Scleral Buckling
4. Light Coagulation
5. Glaucoma Drainage Implants