OD
MCID: FML169
MIFTS: 44

Familial Osteochondritis Dissecans (OD) malady

Genetic diseases, Bone diseases, Rare diseases categories

Summaries for Familial Osteochondritis Dissecans

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48OMIM, 34MalaCards
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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:48 165800

Aliases & Classifications for Familial Osteochondritis Dissecans

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Sources:
63UMLS, 22Genetics Home Reference, 50Orphanet, 48OMIM, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases
Orphanet: 50 
Rare bone diseases


Characteristics (Orphanet epidemiological data):

50
familial osteochondritis dissecans:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

familial osteochondritis dissecans 22 50
osteochondritis dissecans, short stature, and early-onset osteoarthritis 22 48
osteochondritis dissecans and short stature 50
obsessive-compulsive disorder 63
osteochondritis dissecans 63
focd 22
ocd 22
od 22


External Ids:

OMIM48 165800
ICD10 via Orphanet27 M93.2

Related Diseases for Familial Osteochondritis Dissecans

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Sources:
18GeneCards, 19GeneDecks
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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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48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Familial Osteochondritis Dissecans

Search NIH Clinical Center for Familial Osteochondritis Dissecans

Search CenterWatch for Familial Osteochondritis Dissecans

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Familial Osteochondritis Dissecans

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Anatomical Context for Familial Osteochondritis Dissecans

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Sources:
34MalaCards
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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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Sources:
38MGI
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MGI Mouse Phenotypes related to Familial Osteochondritis Dissecans:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1ACAN, FBLN1
2MP:00053858.2ACAN, FBLN2, FBLN1

Publications for Familial Osteochondritis Dissecans

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Sources:
53PubMed
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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:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Familial Osteochondritis Dissecans:

65
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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Sources:
2BioGPS, 16Gene 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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Sources:
51PathCards, 56Reactome, 61Thomson 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:
46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank, 52PharmGKB
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Compounds related to Familial Osteochondritis Dissecans according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chondroitin sulfate46 2510.4ACAN, TNR
2heparin46 30 25 1212.0FBLN2, FBLN1
3fibrinogen468.9FBLN1, FBLN2
4calcium46 52 25 1211.2TNR, FBLN2, FBLN1
5neurocan468.1ACAN, TNR, FBLN2, FBLN1

GO Terms for genes affiliated with Familial Osteochondritis Dissecans

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet