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Pseudoxanthoma Elasticum (Gronblad Strandberg Syndrome)

An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.
Also Known As:
Gronblad Strandberg Syndrome; Groenblad-Strandberg Syndrome; Pseudoxanthoma Elasticum, Autosomal Dominant; Pseudoxanthoma Elasticum, Forme Fruste; Pseudoxanthoma Elasticum, Incomplete; Elasticum, Incomplete Pseudoxanthoma; Elasticums, Incomplete Pseudoxanthoma; Incomplete Pseudoxanthoma Elasticum; Incomplete Pseudoxanthoma Elasticums; Pseudoxanthoma Elasticums, Incomplete; Syndrome, Gronblad-Strandberg; Gronblad-Strandberg Syndrome
Networked: 421 relevant articles (9 outcomes, 30 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Choroidal Neovascularization
2. Angioid Streaks
3. Inborn Genetic Diseases (Disease, Hereditary)
4. beta-Thalassemia (Cooley's Anemia)
5. Marfan Syndrome (Marfan's Syndrome)

Experts

1. Uitto, Jouni: 30 articles (01/2022 - 08/2005)
2. Hendig, Doris: 26 articles (01/2021 - 12/2005)
3. Li, Qiaoli: 23 articles (01/2022 - 12/2007)
4. Martin, Ludovic: 22 articles (10/2022 - 03/2004)
5. Váradi, András: 16 articles (01/2022 - 05/2002)
6. Götting, Christian: 14 articles (08/2014 - 12/2005)
7. Quaglino, Daniela: 13 articles (01/2021 - 11/2003)
8. Le Saux, Olivier: 12 articles (05/2022 - 05/2002)
9. Szliska, Christiane: 12 articles (10/2014 - 12/2005)
10. Terry, Sharon F: 11 articles (01/2022 - 03/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pseudoxanthoma Elasticum:
1. Bevacizumab (Avastin)FDA Link
2. ElastinIBA
3. CollagenIBA
4. Fluorescein (Funduscein)FDA LinkGeneric
5. MagnesiumIBA
6. Biomarkers (Surrogate Marker)IBA
7. Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA
8. Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA
9. Atorvastatin (Lipitor)FDA Link
10. sodium thiosulfateFDA Link

Therapies and Procedures

1. Injections
2. Therapeutics
3. Lasers (Laser)
4. Precision Medicine
5. Intravitreal Injections