MCID: FML169
MIFTS: 29

Familial Osteochondritis Dissecans

Categories: Rare diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Familial Osteochondritis Dissecans

MalaCards integrated aliases for Familial Osteochondritis Dissecans:

Name: Familial Osteochondritis Dissecans 49 24 36 69
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 49 24
Focd 24
Ocd 24
Od 24

Classifications:



External Ids:

KEGG 36 H00448
UMLS 69 C3665488

Summaries for Familial Osteochondritis Dissecans

NIH Rare Diseases : 49 Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness and/or decreased range of motion in the affected joint if the cartilage and bone travel into the joint space. Although osteochondritis dissecans can affect people of all ages, it is most commonly diagnosed in people between the ages of 10 and 20 years. In most cases, the exact underlying cause is unknown. Rarely, the condition can affect more than one family member (called familial osteochondritis dissecans); in these cases, osteochondritis dissecans is caused by changes (mutations) in the ACAN gene and is inherited in an autosomal dominant manner. Treatment for the condition varies depending on many factors, including the age of the affected person and the severity of the symptoms, but may include rest; casting or splinting; surgery and/or physical therapy. Last updated: 2/8/2015

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 waddling gait, knee pain and elbow pain. An important gene associated with Familial Osteochondritis Dissecans is ACAN (Aggrecan), and among its related pathways/superpathways are Degradation of the extracellular matrix and Elastic fibre formation. Affiliated tissues include bone.

Genetics Home Reference : 24 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.

Related Diseases for Familial Osteochondritis Dissecans

Diseases in the Osteochondritis Dissecans family:

Familial Osteochondritis Dissecans

Diseases related to Familial Osteochondritis Dissecans via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 osteochondritis dissecans 30.8 ACAN FBLN1 FBLN2
2 obsessive-compulsive disorder 12.2
3 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 11.7
4 carpal tunnel syndrome 10.0
5 osteoarthritis with mild chondrodysplasia 10.0
6 mononeuropathy of the median nerve, mild 10.0
7 osteoarthritis 10.0
8 dwarfism 10.0

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



Diseases related to Familial Osteochondritis Dissecans

Symptoms & Phenotypes for Familial Osteochondritis Dissecans

UMLS symptoms related to Familial Osteochondritis Dissecans:


waddling gait, knee pain, elbow pain, swelling in the elbows

Drugs & Therapeutics for Familial Osteochondritis Dissecans

Search Clinical Trials , NIH Clinical Center for Familial Osteochondritis Dissecans

Genetic Tests for Familial Osteochondritis Dissecans

Anatomical Context for Familial Osteochondritis Dissecans

MalaCards organs/tissues related to Familial Osteochondritis Dissecans:

38
Bone

Publications for Familial Osteochondritis Dissecans

Articles related to Familial Osteochondritis Dissecans:

(show all 11)
# Title Authors Year
1
Chondrocytes Derived From Mesenchymal Stromal Cells and Induced Pluripotent Cells of Patients With Familial Osteochondritis Dissecans Exhibit an Endoplasmic Reticulum Stress Response and Defective Matrix Assembly. ( 27388238 )
2016
2
A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. ( 20137779 )
2010
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 and carpal tunnel syndrome. ( 532581 )
1979
9
Familial osteochondritis dissecans of the knee. ( 477064 )
1979
10
Familial osteochondritis dissecans with associated tibia vara. ( 13475409 )
1957
11
Familial osteochondritis dissecans. ( 14353963 )
1955

Variations for Familial Osteochondritis Dissecans

Expression for Familial Osteochondritis Dissecans

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

Pathways for Familial Osteochondritis Dissecans

Pathways related to Familial Osteochondritis Dissecans according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 ACAN FBLN1 FBLN2 TNR
2
Show member pathways
11.12 FBLN1 FBLN2
3 10.91 ACAN TNR
4 10.52 ACAN FBLN1 FBLN2 TNR

GO Terms for Familial Osteochondritis Dissecans

Cellular components related to Familial Osteochondritis Dissecans according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.56 ACAN FBLN1 FBLN2 TNR
2 extracellular space GO:0005615 9.5 ACAN FBLN1 FBLN2
3 basement membrane GO:0005604 9.16 ACAN FBLN1
4 extracellular matrix GO:0031012 9.13 ACAN FBLN1 FBLN2
5 proteinaceous extracellular matrix GO:0005578 8.92 ACAN FBLN1 FBLN2 TNR

Biological processes related to Familial Osteochondritis Dissecans according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.92 ACAN FBLN1 FBLN2 TNR

Molecular functions related to Familial Osteochondritis Dissecans according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.13 ACAN FBLN1 FBLN2
2 extracellular matrix structural constituent GO:0005201 8.8 ACAN FBLN1 FBLN2

Sources for Familial Osteochondritis Dissecans

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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