MCID: FML169
MIFTS: 34

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 45 23 51 65
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 45 23
Od 23 2
Osteochondritis Dissecans and Short Stature 51
 
Obsessive-Compulsive Disorder 65
Focd 23
Ocd 23

Characteristics:

Orphanet epidemiological data:

51
familial osteochondritis dissecans:
Inheritance: Autosomal dominant; Age of onset: Childhood

Classifications:



External Ids:

Orphanet51 251262
ICD10 via Orphanet28 M93.2
UMLS65 C3665488

Summaries for Familial Osteochondritis Dissecans

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NIH Rare Diseases:45 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 swollen elbows, pain in elbow and waddling gait. An important gene associated with Familial Osteochondritis Dissecans is ACAN (Aggrecan), and among its related pathways are ECM proteoglycans and Elastic fibre formation. The drugs citalopram and clomipramine have been mentioned in the context of this disorder. Affiliated tissues include bone and thyroid.

Genetics Home Reference:23 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 osteoarthritis11.6
2osteochondritis dissecans11.1
3osteoarthritis10.1
4dwarfism10.1
5osteochondrosis8.4ACAN, FBLN1, FBLN2, TNR
6familial partial lipodystrophy due to akt2 mutations8.2ACAN, 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:


swollen elbows, pain in elbow, waddling gait

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:

33
Bone, Thyroid

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:

idTitleAuthorsYear
1
A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. (20137779)
2010
2
Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature. (18226555)
2008
3
Familial osteochondritis dissecans. (2259663)
1990
4
Familial osteochondritis dissecans. (2791462)
1989
5
Familial osteochondritis dissecans: a dysplasia of articular cartilage? (3992264)
1985
6
Familial osteochondritis dissecans and dwarfism. (7331787)
1981
7
Familial osteochondritis dissecans of the knee. (477064)
1979
8
Familial osteochondritis dissecans and carpal tunnel syndrome. (532581)
1979
9
Familial osteochondritis dissecans with associated tibia vara. (13475409)
1957
10
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
19.4ACAN, TNR
2
Show member pathways
9.0FBLN1, FBLN2
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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Biological processes related to Familial Osteochondritis Dissecans according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:00301989.4ACAN, TNR
2cell adhesionGO:00071559.1ACAN, TNR

Sources for Familial Osteochondritis Dissecans

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet