MCID: FML169
MIFTS: 30

Familial Osteochondritis Dissecans malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Familial Osteochondritis Dissecans

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Aliases & Descriptions for Familial Osteochondritis Dissecans:

Name: Familial Osteochondritis Dissecans 46 24 66
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 46 24
Od 24 2
 
Obsessive-Compulsive Disorder 66
Focd 24
Ocd 24

Classifications:



Summaries for Familial Osteochondritis Dissecans

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NIH Rare Diseases:46 Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. if the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. however, affected people may experience pain, weakness and/or decreased range of motion in the affected joint if the cartilage and bone travel into the joint space. although osteochondritis dissecans can affect people of all ages, it is most commonly diagnosed in people between the ages of 10 and 20 years. in most cases, the exact underlying cause is unknown. rarely, the condition can affect more than one family member (called familial osteochondritis dissecans); in these cases, osteochondritis dissecans is caused by changes (mutations) in the acan gene and is inherited in an autosomal dominant manner. treatment for the condition varies depending on many factors, including the age of the affected person and the severity of the symptoms, but may include rest; casting or splinting; surgery and/or physical therapy. last updated: 2/8/2015

MalaCards based summary: Familial Osteochondritis Dissecans, also known as osteochondritis dissecans, short stature, and early-onset osteoarthritis, is related to osteochondritis dissecans, short stature, and early-onset osteoarthritis and osteochondritis dissecans, and has symptoms including waddling gait, pain in elbow and swollen elbows. An important gene associated with Familial Osteochondritis Dissecans is ACAN (Aggrecan), and among its related pathways are Elastic fibre formation and ECM proteoglycans. The drugs citalopram and clomipramine have been mentioned in the context of this disorder. Affiliated tissues include bone.

Genetics Home Reference:24 Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas of bone damage (lesions) caused by detachment of cartilage and a piece of the underlying bone from the end of the bone at a joint. People with this condition develop multiple lesions that affect several joints, primarily the knees, elbows, hips, and ankles. The lesions cause stiffness, pain, and swelling in the joint. Often, the affected joint feels like it catches or locks during movement. Other characteristic features of familial osteochondritis dissecans include short stature and development of a joint disorder called osteoarthritis at an early age. Osteoarthritis is characterized by the breakdown of joint cartilage and the underlying bone. It causes pain and stiffness and restricts the movement of joints.

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Related Diseases for Familial Osteochondritis Dissecans

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Diseases in the Osteochondritis Dissecans family:

familial osteochondritis dissecans

Diseases related to Familial Osteochondritis Dissecans via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1osteochondritis dissecans, short stature, and early-onset osteoarthritis11.7
2osteochondritis dissecans11.1
3osteoarthritis10.1
4dwarfism10.1
5osteonecrosis8.4ACAN, FBLN1, FBLN2, TNR
6familial pulmonary arterial hypertension leucopenia and atrial septal defect8.1ACAN, FBLN1, FBLN2, TNR

Graphical network of diseases related to Familial Osteochondritis Dissecans:



Diseases related to familial osteochondritis dissecans

Symptoms for Familial Osteochondritis Dissecans

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UMLS symptoms related to Familial Osteochondritis Dissecans:


waddling gait, pain in elbow, swollen elbows

Drugs & Therapeutics for Familial Osteochondritis Dissecans

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Genetic Tests for Familial Osteochondritis Dissecans

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Anatomical Context for Familial Osteochondritis Dissecans

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MalaCards organs/tissues related to Familial Osteochondritis Dissecans:

34
Bone

Animal Models for Familial Osteochondritis Dissecans or affiliated genes

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Publications for Familial Osteochondritis Dissecans

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Articles related to Familial Osteochondritis Dissecans:

(show all 11)
idTitleAuthorsYear
1
Chondrocytes Derived From Mesenchymal Stromal Cells and Induced Pluripotent Cells of Patients With Familial Osteochondritis Dissecans Exhibit an Endoplasmic Reticulum Stress Response and Defective Matrix Assembly. (27388238)
2016
2
A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. (20137779)
2010
3
Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature. (18226555)
2008
4
Familial osteochondritis dissecans. (2259663)
1990
5
Familial osteochondritis dissecans. (2791462)
1989
6
Familial osteochondritis dissecans: a dysplasia of articular cartilage? (3992264)
1985
7
Familial osteochondritis dissecans and dwarfism. (7331787)
1981
8
Familial osteochondritis dissecans of the knee. (477064)
1979
9
Familial osteochondritis dissecans and carpal tunnel syndrome. (532581)
1979
10
Familial osteochondritis dissecans with associated tibia vara. (13475409)
1957
11
Familial osteochondritis dissecans. (14353963)
1955

Variations for Familial Osteochondritis Dissecans

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Expression for genes affiliated with Familial Osteochondritis Dissecans

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Search GEO for disease gene expression data for Familial Osteochondritis Dissecans.

Pathways for genes affiliated with Familial Osteochondritis Dissecans

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Pathways related to Familial Osteochondritis Dissecans according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3FBLN1, FBLN2
29.1ACAN, TNR
3
Show member pathways
8.0ACAN, FBLN1, FBLN2, TNR
48.0ACAN, FBLN1, FBLN2, TNR

GO Terms for genes affiliated with Familial Osteochondritis Dissecans

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Cellular components related to Familial Osteochondritis Dissecans according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00056049.9ACAN, FBLN1
2extracellular matrixGO:00310128.9ACAN, FBLN1, FBLN2
3proteinaceous extracellular matrixGO:00055788.1ACAN, FBLN1, FBLN2, TNR
4extracellular regionGO:00055768.0ACAN, FBLN1, FBLN2, TNR

Biological processes related to Familial Osteochondritis Dissecans according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell adhesionGO:00071559.1ACAN, TNR
2extracellular matrix organizationGO:00301988.7ACAN, FBLN1, TNR

Molecular functions related to Familial Osteochondritis Dissecans according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052018.8ACAN, FBLN1, FBLN2

Sources for Familial Osteochondritis Dissecans

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet