MCID: FML169
MIFTS: 29

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 47 25 67
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 47 25
Od 25 2
 
Obsessive-Compulsive Disorder 67
Focd 25
Ocd 25

Classifications:



Summaries for Familial Osteochondritis Dissecans

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Genetics Home Reference:25 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.

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 ECM proteoglycans and Elastic fibre formation. The drugs citalopram hydrobromide and citalopram have been mentioned in the context of this disorder. Affiliated tissues include bone.

CDC:2 The United States is in the midst of an opioid overdose epidemic.

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 osteoarthritis11.8
2osteochondritis dissecans10.5
3osteoarthritis9.9
4dwarfism9.9
5osteonecrosis8.6ACAN, FBLN1, FBLN2, TNR
6familial pulmonary arterial hypertension leucopenia and atrial septal defect8.3ACAN, 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:

35
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
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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Cellular components related to Familial Osteochondritis Dissecans according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00056049.8ACAN, FBLN1
2extracellular matrixGO:00310128.5ACAN, FBLN1, FBLN2
3extracellular regionGO:00055768.0ACAN, FBLN1, FBLN2, TNR
4proteinaceous extracellular matrixGO:00055787.9ACAN, FBLN1, FBLN2, TNR

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

idNameGO IDScoreTop Affiliating Genes
1cell adhesionGO:00071559.4ACAN, TNR
2extracellular matrix organizationGO:00301988.8ACAN, FBLN1, TNR

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052018.5ACAN, FBLN1, FBLN2

Sources for Familial Osteochondritis Dissecans

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet