MCID: FML169
MIFTS: 31

Familial Osteochondritis Dissecans

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Osteochondritis Dissecans

MalaCards integrated aliases for Familial Osteochondritis Dissecans:

Name: Familial Osteochondritis Dissecans 54 26 38 74
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 54 26
Focd 26
Ocd 26
Od 26

Classifications:



External Ids:

KEGG 38 H00448
UMLS 74 C3665488

Summaries for Familial Osteochondritis Dissecans

NIH Rare Diseases : 54 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.

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 Microglia Activation During Neuroinflammation: Overview. Affiliated tissues include bone and brain.

Genetics Home Reference : 26 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:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 osteochondritis dissecans 31.4 ACAN FBLN1 FBLN2
2 obsessive-compulsive disorder 12.5
3 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 11.9
4 gilles de la tourette syndrome 11.4
5 trichotillomania 11.4
6 pediatric autoimmune neuropsychiatric disorders associated with streptococcus infections 11.2
7 succinic semialdehyde dehydrogenase deficiency 11.0
8 basal ganglia disease 11.0
9 bain type of x-linked syndromic intellectual disability 11.0
10 pediatric acute-onset neuropsychiatric syndrome 11.0
11 idiopathic avascular necrosis 10.7
12 osteochondrosis 10.7
13 anxiety 10.6
14 depression 10.5
15 schizophrenia 10.5
16 odontochondrodysplasia 10.4
17 autism 10.3
18 eating disorder 10.3
19 autism spectrum disorder 10.2
20 disease of mental health 10.2
21 carpal tunnel syndrome 10.2
22 mononeuropathy of the median nerve, mild 10.2
23 osteoarthritis 10.2
24 dwarfism 10.2
25 attention deficit-hyperactivity disorder 10.1
26 bipolar disorder 10.1
27 pol iii-related leukodystrophies 10.1
28 personality disorder 10.1
29 blood group, colton system 10.0
30 brachydactyly, type d 10.0
31 brain injury 10.0
32 schizotypal personality disorder 10.0
33 separation anxiety disorder 10.0
34 obsessive-compulsive personality disorder 10.0
35 pathological gambling 10.0
36 agoraphobia 10.0
37 panic disorder 10.0
38 alcohol dependence 9.8
39 elastosis perforans serpiginosa 9.8
40 velocardiofacial syndrome 9.8
41 retinitis pigmentosa 9.8
42 supranuclear palsy, progressive, 1 9.8
43 anorexia nervosa 9.8
44 major depressive disorder 9.8
45 intraocular pressure quantitative trait locus 9.8
46 alacrima, achalasia, and mental retardation syndrome 9.8
47 arthritis 9.8
48 crohn's disease 9.8
49 traumatic brain injury 9.8
50 aphasia 9.8

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:

42
Bone, Brain

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 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

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
11.42 ACAN TNR
3
Show member pathways
11.12 FBLN1 FBLN2
4 10.91 ACAN TNR
5 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 9.46 ACAN FBLN1 FBLN2 TNR
2 glutamatergic synapse GO:0098978 9.32 ACAN TNR
3 basement membrane GO:0005604 9.26 ACAN FBLN1
4 extracellular matrix GO:0031012 9.26 ACAN FBLN1 FBLN2 TNR
5 collagen-containing extracellular matrix GO:0062023 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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