OD
MCID: FML169
MIFTS: 36

Familial Osteochondritis Dissecans (OD) malady

Bone, Ear, Genetic categories

Summaries for Familial Osteochondritis Dissecans

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 body dysmorphic disorder. 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.

Description from OMIM:47 165800

Aliases & Classifications for Familial Osteochondritis Dissecans

Sources:
21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


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 61
osteochondritis dissecans 61
focd 21
ocd 21
od 21


External Ids:

OMIM47 165800
ICD10 via Orphanet26 M93.2

Related Diseases for Familial Osteochondritis Dissecans

Sources:
17GeneCards, 18GeneDecks
See all sources

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 133)
idRelated DiseaseScoreTop Affiliating Genes
1osteochondritis dissecans31.2ACAN
2body dysmorphic disorder10.9
3generalized anxiety disorder10.8
4hypochondriasis10.7
5social phobia10.7
6bipolar disorder10.7
7obsessive-compulsive disorder10.7
8anorexia nervosa10.6
9schizotypal personality disorder10.6
10attention deficit hyperactivity disorder10.6
11alexithymia10.6
12tic disorder10.5
13osteonecrosis10.5
14legg-calve-perthes disease10.5
15major depressive disorder10.5
16asperger syndrome10.5
17schizoaffective disorder10.5
18bipolar i disorder10.5
19multiple epiphyseal dysplasia10.4
20stickler syndrome10.4
21scurvy10.4
22autistic disorder10.4
23bulimia nervosa10.4
24adjustment disorder10.4
25seasonal affective disorder10.4
26pain disorder10.4
27alcohol dependence10.4
28autism spectrum disorder10.4
29charge syndrome10.4
30myoclonus-dystonia10.4
31myoclonus10.4
32pandas10.3
33carpal tunnel syndrome10.3
34osteoarthritis10.3
35dwarfism10.3
36short stature10.3
37carpal tunnel syndrome, familial10.3
38rickets10.2
39wilson disease10.2
40osgood-schlatter's disease10.2
41adult syndrome10.2
42panner disease10.2
43parkinson's disease10.2
44transsexualism10.2
45paranoid schizophrenia10.2
46normal pressure hydrocephalus10.2
47narcolepsy10.2
48lateral sclerosis10.2
49williams-beuren syndrome10.2
50tuberous sclerosis10.2

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



Diseases related to familial osteochondritis dissecans

Clinical Features for Familial Osteochondritis Dissecans

Sources:
47OMIM
See all sources

Clinical features from OMIM:

165800

Clinical synopsis from OMIM:

165800

Drugs & Therapeutics for Familial Osteochondritis Dissecans

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Familial Osteochondritis Dissecans

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 UMLS61/NDF-RT41:

Genetic Tests for Familial Osteochondritis Dissecans

Anatomical Context for Familial Osteochondritis Dissecans

Animal Models for Familial Osteochondritis Dissecans or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Familial Osteochondritis Dissecans

Sources:
51PubMed
See all sources

Articles related to Familial Osteochondritis Dissecans:

(show all 11)
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 bilateral osteochondritis dissecans of the femoral head. A case series. (19884446)
2009
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

Genetic Variations for Familial Osteochondritis Dissecans

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Familial Osteochondritis Dissecans:

63
id Symbol AA change Variation SNP ID
1ACANp.Val2303MetVAR_063765

Expression for genes affiliated with Familial Osteochondritis Dissecans

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 12EMD Millipore
See all sources

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
Hide members
8.0ACAN, FBLN1, FBLN2, TNR

Compounds for genes affiliated with Familial Osteochondritis Dissecans

Sources:
45Novoseek, 24HMDB
See all sources

Compounds related to Familial Osteochondritis Dissecans according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chondroitin sulfate45 2410.1ACAN, TNR
2fibrinogen459.0FBLN1, FBLN2
3neurocan457.9ACAN, FBLN1, FBLN2, TNR

GO Terms for genes affiliated with Familial Osteochondritis Dissecans

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Osteochondritis Dissecans

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet