OD
MCID: FML169
MIFTS: 45

Familial Osteochondritis Dissecans (OD) malady

Genetic diseases, Bone diseases, Rare diseases categories

Summaries for Familial Osteochondritis Dissecans

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Genetics Home Reference:22 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 and obsessive-compulsive disorder, and has symptoms including autosomal dominant inheritance, growth abnormality and waddling gait. 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 citalopram hydrobromide 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.

OMIM:46 The skeletal disorder osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the... (165800) more...

Aliases & Classifications for Familial Osteochondritis Dissecans

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Sources:
22Genetics Home Reference, 46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet
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Familial Osteochondritis Dissecans, Aliases & Descriptions:

Name: Familial Osteochondritis Dissecans 22 48 61
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 22 46
Ocd 22 61
 
Od 22 61
Osteochondritis Dissecans and Short Stature 48
Focd 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases
Orphanet: 48 
Rare bone diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 165800
ICD10 via Orphanet27 M93.2

Related Diseases for Familial Osteochondritis Dissecans

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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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Symptoms by clinical synopsis from OMIM:

165800

Clinical features from OMIM:

165800

HPO human phenotypes related to Familial Osteochondritis Dissecans:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 growth abnormality HP:0001507
3 waddling gait HP:0002515
4 osteoarthritis HP:0002758
5 exostoses HP:0100777

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:

32
Bone

Animal Models for Familial Osteochondritis Dissecans or affiliated genes

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MGI Mouse Phenotypes related to Familial Osteochondritis Dissecans:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1ACAN, FBLN1
2MP:00053858.2ACAN, FBLN2, FBLN1

Publications for Familial Osteochondritis Dissecans

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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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UniProtKB/Swiss-Prot genetic disease variations for Familial Osteochondritis Dissecans:

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

Clinvar genetic disease variations for Familial Osteochondritis Dissecans:

7
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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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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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:
44Novoseek, 25HMDB, 29IUPHAR, 12DrugBank, 50PharmGKB
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Compounds related to Familial Osteochondritis Dissecans according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chondroitin sulfate44 2510.4TNR, ACAN
2heparin44 29 25 1212.0FBLN1, FBLN2
3fibrinogen448.9FBLN1, FBLN2
4calcium44 50 25 1211.2FBLN1, FBLN2, TNR
5neurocan448.1FBLN1, FBLN2, TNR, ACAN

GO Terms for genes affiliated with Familial Osteochondritis Dissecans

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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
  • Proteins
  • Kits and Assays

Sources for Familial Osteochondritis Dissecans

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet