OD
MCID: FML169
MIFTS: 28

Familial Osteochondritis Dissecans (OD)

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Osteochondritis Dissecans

MalaCards integrated aliases for Familial Osteochondritis Dissecans:

Name: Familial Osteochondritis Dissecans 52 25 36 71
Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 52 25
Focd 25
Ocd 25
Od 25

Classifications:



External Ids:

KEGG 36 H00448
UMLS 71 C3665488

Summaries for Familial Osteochondritis Dissecans

Genetics Home Reference : 25 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. A similar condition called sporadic osteochondritis dissecans is associated with a single lesion in one joint, most often the knee. These cases may be caused by injury to or repetitive use of the joint (often sports-related). Some people with sporadic osteochondritis dissecans develop osteoarthritis in the affected joint, especially if the lesion occurs later in life after the bone has stopped growing. Short stature is not associated with this form of the condition.

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, elbow pain and knee 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.

NIH Rare Diseases : 52 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 .

KEGG : 36 Osteochondritis dissecans is defined as a separation of articular cartilage and subchondral bone from the joint surface, affecting the knee, ankle and elbow joints. The disease is caused by heterozygous missense mutation in Aggrecan (ACAN) which is a major cartilage component.

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 125)
# Related Disease Score Top Affiliating Genes
1 osteochondritis dissecans 30.6 TNR FBLN2 FBLN1 ACAN
2 obsessive-compulsive disorder 12.5
3 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 12.0
4 gilles de la tourette syndrome 11.6
5 trichotillomania 11.5
6 body dysmorphic disorder 11.5
7 dystonia 11, myoclonic 11.1
8 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.1
9 choreoacanthocytosis 11.1
10 succinic semialdehyde dehydrogenase deficiency 11.1
11 neurotic disorder 11.1
12 basal ganglia disease 11.1
13 bain type of x-linked syndromic intellectual disability 11.1
14 chromosome 3p deletion 11.1
15 pediatric acute-onset neuropsychiatric syndrome 11.1
16 pediatric autoimmune neuropsychiatric disorders associated with streptococcus infections 11.1
17 pacs1 syndrome 11.1
18 anxiety 10.8
19 osteochondrosis 10.7
20 idiopathic avascular necrosis 10.7
21 tic disorder 10.7
22 personality disorder 10.6
23 attention deficit-hyperactivity disorder 10.6
24 eating disorder 10.5
25 depression 10.5
26 mental depression 10.5
27 panic disorder 10.5
28 obsessive-compulsive personality disorder 10.5
29 odontochondrodysplasia 10.5
30 major depressive disorder 10.5
31 autism spectrum disorder 10.4
32 mood disorder 10.4
33 autism 10.4
34 generalized anxiety disorder 10.4
35 schizophrenia 10.4
36 schizotypal personality disorder 10.4
37 social phobia 10.4
38 agoraphobia 10.4
39 major affective disorder 8 10.3
40 major affective disorder 9 10.3
41 bipolar disorder 10.3
42 dwarfism 10.3
43 avoidant personality disorder 10.3
44 alcohol dependence 10.3
45 chronic tic disorder 10.3
46 separation anxiety disorder 10.3
47 severe combined immunodeficiency 10.3
48 rare surgical neurologic disease 10.3
49 dysthymic disorder 10.2
50 substance abuse 10.2

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, elbow pain, knee 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:

40
Bone

Publications for Familial Osteochondritis Dissecans

Articles related to Familial Osteochondritis Dissecans:

(show all 14)
# Title Authors PMID Year
1
Novel pathogenic ACAN variants in non-syndromic short stature patients. 61
28396070 2017
2
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. 61
27388238 2016
3
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases. 61
27353333 2016
4
The different roles of aggrecan interaction domains. 61
23019016 2012
5
A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. 61
20137779 2010
6
Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature. 61
18226555 2008
7
Familial osteochondritis dissecans. 61
2259663 1990
8
Familial osteochondritis dissecans. 61
2791462 1989
9
Familial osteochondritis dissecans: a dysplasia of articular cartilage? 61
3992264 1985
10
Familial osteochondritis dissecans and dwarfism. 61
7331787 1981
11
Familial osteochondritis dissecans and carpal tunnel syndrome. 61
532581 1979
12
Familial osteochondritis dissecans of the knee. 61
477064 1979
13
Familial osteochondritis dissecans with associated tibia vara. 61
13475409 1957
14
Familial osteochondritis dissecans. 61
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 TNR FBLN2 FBLN1 ACAN
2
Show member pathways
11.42 TNR ACAN
3
Show member pathways
11.12 FBLN2 FBLN1
4 10.91 TNR ACAN
5 10.52 TNR FBLN2 FBLN1 ACAN

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 TNR FBLN2 FBLN1 ACAN
2 glutamatergic synapse GO:0098978 9.32 TNR ACAN
3 basement membrane GO:0005604 9.26 FBLN1 ACAN
4 collagen-containing extracellular matrix GO:0062023 9.26 TNR FBLN2 FBLN1 ACAN
5 extracellular matrix GO:0031012 8.92 TNR FBLN2 FBLN1 ACAN

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 TNR FBLN2 FBLN1 ACAN

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 FBLN2 FBLN1 ACAN
2 extracellular matrix structural constituent GO:0005201 8.8 FBLN2 FBLN1 ACAN

Sources for Familial Osteochondritis Dissecans

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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