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Pseudoachondroplasia

A hereditary autosomal dominant form of achondroplasia characterized by dwarfism, lower limb abnormalities, BRACHYDACTYLY, loose joints, and ligamentous laxity. Vertebral anomalies usually resolve with age, but affected individuals develop severe OSTEOARTHRITIS. Muations in the COMP gene have been identified. OMIM: 177170
Also Known As:
PSACH; Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome; Pseudoachondroplastic dysplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Spondyloepiphyseal Dysplasia, Pseudoachondroplastic
Networked: 147 relevant articles (2 outcomes, 12 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
2. Achondroplasia
3. Pseudoachondroplasia
4. Dwarfism
5. Osteoarthritis

Experts

1. Hecht, Jacqueline T: 23 articles (08/2021 - 03/2002)
2. Posey, Karen L: 13 articles (08/2021 - 06/2004)
3. Briggs, Michael D: 12 articles (01/2015 - 05/2002)
4. Alcorn, Joseph L: 10 articles (01/2017 - 04/2006)
5. Veerisetty, Alka C: 9 articles (08/2021 - 06/2008)
6. Coustry, Francoise: 6 articles (08/2021 - 01/2014)
7. Boot-Handford, Raymond P: 6 articles (01/2015 - 09/2007)
8. Hecht, J T: 6 articles (10/2008 - 08/2000)
9. Zaucke, Frank: 5 articles (08/2013 - 08/2002)
10. Paulsson, Mats: 5 articles (01/2011 - 08/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pseudoachondroplasia:
1. Proteins (Proteins, Gene)FDA Link
2. Collagen Type IXIBA
3. CurcuminIBA
4. CalciumIBA
5. Cartilage Oligomeric Matrix ProteinIBA
6. Mutant Proteins (Protein, Mutant)IBA
7. CollagenIBA
8. Proteoglycans (Proteoglycan)IBA
9. NucleotidesIBA
10. Chondroitin Sulfate ProteoglycansIBA

Therapies and Procedures

1. Osteotomy
2. Therapeutics
3. Hemiarthroplasty
4. Hip Replacement Arthroplasty (Total Hip Replacement)
5. Replacement Arthroplasty