OD
MCID: FML169
MIFTS: 44

Familial Osteochondritis Dissecans (OD) malady

Genetic diseases, Bone diseases, Rare diseases categories
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Summaries for Familial Osteochondritis Dissecans

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Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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: Familial Osteochondritis Dissecans, also known as osteochondritis dissecans, short stature, and early-onset osteoarthritis, is related to osteochondritis dissecans and obsessive-compulsive disorder. 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 and the compounds chondroitin sulfate and heparin have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are hearing/vestibular/ear and cardiovascular system.

Description from OMIM:47 165800

Aliases & Classifications for Familial Osteochondritis Dissecans

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Sources:
62UMLS, 21Genetics Home Reference, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases
Orphanet: 49 
Rare bone diseases


Characteristics (Orphanet epidemiological data):

49
familial osteochondritis dissecans:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

familial osteochondritis dissecans 21 49
osteochondritis dissecans, short stature, and early-onset osteoarthritis 21 47
osteochondritis dissecans and short stature 49
obsessive-compulsive disorder 62
osteochondritis dissecans 62
focd 21
ocd 21
od 21


External Ids:

OMIM47 165800
ICD10 via Orphanet26 M93.2

Related Diseases for Familial Osteochondritis Dissecans

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Familial Osteochondritis Dissecans:



Diseases related to familial osteochondritis dissecans

Symptoms for Familial Osteochondritis Dissecans

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47OMIM
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Symptoms by clinical synopsis from OMIM:

165800

Clinical features from OMIM:

165800

Drugs & Therapeutics for Familial Osteochondritis Dissecans

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Genetic Tests for Familial Osteochondritis Dissecans

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Anatomical Context for Familial Osteochondritis Dissecans

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33MalaCards
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MalaCards organs/tissues related to Familial Osteochondritis Dissecans:

33
Bone

Animal Models for Familial Osteochondritis Dissecans or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Familial Osteochondritis Dissecans:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1ACAN, FBLN1
2MP:00053858.2ACAN, FBLN2, FBLN1

Publications for Familial Osteochondritis Dissecans

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52PubMed
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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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Familial Osteochondritis Dissecans:

64
id Symbol AA change Variation ID SNP ID
1ACANp.Val2303MetVAR_063765

Clinvar genetic disease variations for Familial Osteochondritis Dissecans:

1
id Gene Name Type Significance SNP ID Assembly Location
1ACANNM_013227.3(ACAN): c.7249G> A (p.Val2417Met)single nucleotide variantPathogenicrs267606625GRCh37Chr 15, 89416172: 89416172

Expression for genes affiliated with Familial Osteochondritis Dissecans

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Osteochondritis Dissecans

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

Pathways for genes affiliated with Familial Osteochondritis Dissecans

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50PathCards, 55Reactome, 60Thomson Reuters
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Pathways related to Familial Osteochondritis Dissecans according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4TNR, ACAN
2
Show member pathways
9.0FBLN2, FBLN1
3
Show member pathways
8.0ACAN, TNR, FBLN2, FBLN1
48.0FBLN1, FBLN2, TNR, ACAN

Compounds for genes affiliated with Familial Osteochondritis Dissecans

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Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 51PharmGKB
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Compounds related to Familial Osteochondritis Dissecans according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chondroitin sulfate45 2410.4ACAN, TNR
2heparin45 29 24 1112.0FBLN2, FBLN1
3fibrinogen458.9FBLN1, FBLN2
4calcium45 51 24 1111.2TNR, FBLN2, FBLN1
5neurocan458.1ACAN, TNR, FBLN2, FBLN1

GO Terms for genes affiliated with Familial Osteochondritis Dissecans

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16Gene Ontology
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Cellular components related to Familial Osteochondritis Dissecans according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310128.2FBLN2, ACAN, FBLN1
2extracellular regionGO:0055768.0FBLN1, FBLN2, TNR, ACAN
3proteinaceous extracellular matrixGO:0055787.9TNR, FBLN1, ACAN, FBLN2

Biological processes related to Familial Osteochondritis Dissecans according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell adhesionGO:0071559.4ACAN, TNR
2extracellular matrix organizationGO:0301987.7ACAN, TNR, FBLN2, FBLN1

Molecular functions related to Familial Osteochondritis Dissecans according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052018.5ACAN, FBLN2, FBLN1

Products for genes affiliated with Familial Osteochondritis Dissecans

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Osteochondritis Dissecans

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet