OD
MCID: FML169
MIFTS: 39

Familial Osteochondritis Dissecans (OD) malady

Bone diseases, Ear diseases, Genetic diseases categories

Summaries for Familial Osteochondritis Dissecans

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21Genetics Home Reference, 46OMIM, 32MalaCards
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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 multiple sclerosis. An important gene associated with Familial Osteochondritis Dissecans is ACAN (aggrecan), and among its related pathways are Non-integrin membrane-ECM interactions and Elastic fibre formation. The drugs citalopram and citalopram hydrobromide and the compounds chondroitin sulfate and fibrinogen have been mentioned in the context of this disorder. Affiliated tissues include bone.

Description from OMIM:46 165800

Aliases & Classifications for Familial Osteochondritis Dissecans

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Sources:
60UMLS, 21Genetics Home Reference, 48Orphanet, 46OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Bone diseases, Ear diseases


Characteristics (Orphanet epidemiological data):

48
familial osteochondritis dissecans:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

familial osteochondritis dissecans 21 48
osteochondritis dissecans, short stature, and early-onset osteoarthritis 21 46
osteochondritis dissecans and short stature 48
obsessive-compulsive disorder 60
osteochondritis dissecans 60
focd 21
ocd 21
od 21


External Ids:

OMIM46 165800
ICD10 via Orphanet26 M93.2

Related Diseases for Familial Osteochondritis Dissecans

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Sources:
17GeneCards, 18GeneDecks
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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/GeneDecks gene sharing:

(show top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1osteochondritis dissecans31.1ACAN
2multiple sclerosis30.6TNR
3body dysmorphic disorder10.9
4schizophrenia10.8
5generalized anxiety disorder10.7
6major depressive disorder10.7
7hypochondriasis10.7
8obsessive-compulsive disorder10.7
9social phobia10.7
10bipolar disorder10.7
11anorexia nervosa10.6
12eating disorder10.6
13schizotypal personality disorder10.6
14dissociative disorder10.6
15mood disorder10.6
16sexual disorder10.6
17attention deficit hyperactivity disorder10.5
18alexithymia10.5
19cerebritis10.5
20neuroacanthocytosis10.5
21osteochondrodysplasia10.5
22osteonecrosis10.4
23legg-calve-perthes disease10.4
24periostitis10.4
25asperger syndrome10.4
26schizoaffective disorder10.4
27multiple epiphyseal dysplasia10.4
28stickler syndrome10.4
29osteosarcoma10.4
30scurvy10.3
31autistic disorder10.3
32bulimia nervosa10.3
33somatization disorder10.3
34adjustment disorder10.3
35seasonal affective disorder10.3
36pain disorder10.3
37alcohol dependence10.3
38autism spectrum disorder10.3
39impulse control disorder10.3
40psychotic disorder10.3
41charge syndrome10.3
42myoclonus-dystonia10.3
43carpal tunnel syndrome10.3
44osteoarthritis10.3
45dwarfism10.3
46rickets10.2
47wilson disease10.2
48osgood-schlatter's disease10.2
49adult syndrome10.2
50hyperimmunoglobulin syndrome10.2

Graphical network of the top 20 diseases related to Familial Osteochondritis Dissecans:



Diseases related to familial osteochondritis dissecans

Clinical Features for Familial Osteochondritis Dissecans

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Sources:
46OMIM
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Clinical features from OMIM:

165800

Clinical synopsis from OMIM:

165800

Drugs & Therapeutics for Familial Osteochondritis Dissecans

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

Genetic Tests for Familial Osteochondritis Dissecans

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Anatomical Context for Familial Osteochondritis Dissecans

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Sources:
32MalaCards
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MalaCards organs/tissues related to Familial Osteochondritis Dissecans:

32
Bone

Animal Models for Familial Osteochondritis Dissecans or affiliated genes

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Publications for Familial Osteochondritis Dissecans

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Genetic Variations for Familial Osteochondritis Dissecans

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Familial Osteochondritis Dissecans:

62
id Symbol AA change Variation ID SNP ID
1ACANp.Val2303MetVAR_063765

Expression for genes affiliated with Familial Osteochondritis Dissecans

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Sources:
1BioGPS, 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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Sources:
53Reactome, 29KEGG, 12EMD Millipore
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Pathways related to Familial Osteochondritis Dissecans according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.4ACAN, TNR
2
Hide members
9.0FBLN1, FBLN2
3
Hide members
8.0TNR, FBLN2, FBLN1, ACAN
4
Cell adhesion Cell-matrix glycoconjugates
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8.0ACAN, FBLN1, FBLN2, TNR

Compounds for genes affiliated with Familial Osteochondritis Dissecans

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44Novoseek, 24HMDB
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Compounds related to Familial Osteochondritis Dissecans according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chondroitin sulfate44 2410.1ACAN, TNR
2fibrinogen449.0FBLN1, FBLN2
3neurocan447.9ACAN, FBLN1, FBLN2, TNR

GO Terms for genes affiliated with Familial Osteochondritis Dissecans

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Sources:
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, FBLN1, ACAN
2extracellular regionGO:0055768.0ACAN, FBLN1, FBLN2, TNR
3proteinaceous extracellular matrixGO:0055787.9ACAN, FBLN1, FBLN2, TNR

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:0301988.0ACAN, FBLN1, FBLN2, TNR

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

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

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet