Osteochondritis dissecans is a rare bone disease that involves an acquired necrotic lesion in the subchondral bone, leading to the formation of loose bodies in joints. It primarily affects the knee, ankle, and elbow joints, causing pain, functional limitations, and potential secondary osteoarthritis. The condition occurs when a piece of cartilage and bone detach from the end of a bone, resulting in symptoms like pain, weakness, and decreased range of motion. In some cases, the exact cause is unknown, but familial cases are linked to changes in the ACAN gene. Symptoms may include pain during and after sports, joint swelling, catching, and locking during movement. Early stages may only show pain, while later stages can present with effusion, tenderness, and a crackling sound with joint movement. Osteochondritis dissecans is characterized by cracks in the articular cartilage and subchondral bone, with physical examination revealing various symptoms depending on the stage of the disorder.
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.