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Pycnodysostosis

Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.
Also Known As:
Pycnodysostoses; Pyknodysostoses; Pyknodysostosis
Networked: 124 relevant articles (3 outcomes, 12 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Osteomyelitis
2. Sleep Apnea Syndromes (Sleep Apnea)
3. Malocclusion (Crossbite)
4. Osteopetrosis
5. Osteoporosis

Experts

1. Turan, Serap: 4 articles (04/2017 - 04/2014)
2. Gelb, Bruce D: 4 articles (03/2009 - 08/2002)
3. Everts, V: 3 articles (04/2013 - 01/2000)
4. Appelman-Dijkstra, Natasha M: 2 articles (02/2021 - 06/2016)
5. Papapoulos, Socrates E: 2 articles (02/2021 - 06/2016)
6. Haagerup, Annette: 2 articles (02/2021 - 02/2002)
7. Biswas, Sampa: 2 articles (11/2018 - 06/2018)
8. Ebeling, Peter R: 2 articles (01/2018 - 06/2011)
9. Xue, Yang: 2 articles (10/2017 - 05/2011)
10. Gonzalez-Huerta, Luz Maria: 2 articles (05/2015 - 02/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pycnodysostosis:
1. Growth Hormone (Somatotropin)IBA
2. Anti-Bacterial Agents (Antibiotics)IBA
3. Cathepsin KIBA
4. EnzymesIBA
5. Proteins (Proteins, Gene)FDA Link
6. Insulin-Like Growth Factor I (IGF-1)IBA
7. Human Growth Hormone (Saizen)FDA LinkGeneric
8. Tetracycline (Achromycin)FDA LinkGeneric
9. Arginine (L-Arginine)FDA Link
10. Cysteine Proteases (Cysteine Protease)IBA

Therapies and Procedures

1. Therapeutics
2. Distraction Osteogenesis
3. Mandibular Reconstruction
4. Sutures (Suture)
5. Arthroplasty