MCID: OST009
MIFTS: 57

Osteochondritis Dissecans

Categories: Rare diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Osteochondritis Dissecans

MalaCards integrated aliases for Osteochondritis Dissecans:

Name: Osteochondritis Dissecans 38 12 76 53 59 29 6 44 15 73
Osteochondritis 44 73
König Disease 53 59
Kônig Disease 53
Ocd 12

Characteristics:

Orphanet epidemiological data:

59
osteochondritis dissecans
Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:84
ICD10 33 M93.2 M93.9
ICD9CM 35 732.7
Orphanet 59 ORPHA2764
ICD10 via Orphanet 34 M93.2
MESH via Orphanet 45 D010008
UMLS via Orphanet 74 C0029421

Summaries for Osteochondritis Dissecans

NIH Rare Diseases : 53 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 : Osteochondritis Dissecans, also known as osteochondritis, is related to familial osteochondritis dissecans and stickler syndrome. An important gene associated with Osteochondritis Dissecans is ACAN (Aggrecan), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. The drugs Fibrin Tissue Adhesive and Mitogens have been mentioned in the context of this disorder. Affiliated tissues include epiphysis, bone and bone marrow, and related phenotypes are joint swelling and joint stiffness

Disease Ontology : 12 An ischemic bone disease that results in necrosis located in epiphysis.

Wikipedia : 76 Osteochondritis dissecans (OCD or OD) is a joint disorder in which cracks form in the articular... more...

Related Diseases for Osteochondritis Dissecans

Diseases in the Osteochondritis Dissecans family:

Familial Osteochondritis Dissecans

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 familial osteochondritis dissecans 33.8 ACAN FBLN1 FBLN2
2 stickler syndrome 30.5 COL9A1 COL9A2 COL9A3
3 multiple epiphyseal dysplasia 28.1 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3
4 osteoarthritis 27.7 ACAN COL9A1 COMP MATN3 MMP13 MMP3
5 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 12.9
6 obsessive-compulsive disorder 12.2
7 pandas 11.3
8 gilles de la tourette syndrome 11.2
9 idiopathic avascular necrosis 11.2
10 trichotillomania 11.2
11 back pain 10.6 COL9A2 COL9A3
12 cartilage disease 10.5 ACAN COMP
13 osteochondrosis 10.5
14 transient arthritis 10.5 ACAN COMP
15 achondrogenesis, type ii 10.4 ACAN COMP
16 atelosteogenesis 10.4 COL9A2 COMP
17 degenerative disc disease 10.4 ACAN COL9A3
18 hypochondrogenesis 10.4 ACAN COMP
19 periostitis 10.3
20 legg-calve-perthes disease 10.2
21 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.2 COL9A1 COL9A2 COL9A3
22 autosomal recessive stickler syndrome 10.2 COL9A1 COL9A2 COL9A3
23 thiemann disease 10.2
24 kohler's disease 10.2
25 osgood-schlatter's disease 10.2
26 kienbock's disease 10.2
27 osteonecrosis 10.2
28 sorsby fundus dystrophy 10.1 MMP13 MMP3
29 coronary artery aneurysm 10.0 MMP13 MMP3
30 achondroplasia 10.0 ACAN COMP
31 spondylolisthesis 10.0 BMP7 MMP3
32 spondyloepiphyseal dysplasia congenita 10.0 COMP MMP13
33 carpal tunnel syndrome 10.0
34 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0
35 wilson disease 10.0
36 spondyloepiphyseal dysplasia tarda, x-linked 10.0
37 aging 10.0
38 mononeuropathy of the median nerve, mild 10.0
39 rickets 10.0
40 spastic diplegia 10.0
41 epicondylitis 10.0
42 cervicitis 10.0
43 myopathy 10.0
44 dwarfism 10.0
45 spasticity 10.0
46 intervertebral disc disease 9.8 COL9A2 COL9A3
47 bone disease 9.8 ACAN BMP7 MMP13
48 synovitis 9.8 COMP MMP13 MMP3
49 arthritis 9.6 ACAN MMP13 MMP3
50 skeletal dysplasias 9.6 COMP MATN3

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



Diseases related to Osteochondritis Dissecans

Symptoms & Phenotypes for Osteochondritis Dissecans

Human phenotypes related to Osteochondritis Dissecans:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001386
2 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
3 abnormality of the knee 59 32 hallmark (90%) Very frequent (99-80%) HP:0002815
4 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
5 limited elbow extension 59 32 frequent (33%) Frequent (79-30%) HP:0001377
6 decreased hip abduction 59 32 frequent (33%) Frequent (79-30%) HP:0003184
7 limited elbow flexion 59 32 frequent (33%) Frequent (79-30%) HP:0006376
8 abnormality of skeletal physiology 59 32 frequent (33%) Frequent (79-30%) HP:0011843
9 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
10 abnormality of tibia morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002992
11 quadriceps muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009050
12 limitation of joint mobility 59 Very frequent (99-80%)
13 abnormal joint morphology 59 Frequent (79-30%)

MGI Mouse Phenotypes related to Osteochondritis Dissecans:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.5 BMP7 COL9A1 COL9A2 COMP FBLN1 MATN3
2 hearing/vestibular/ear MP:0005377 9.46 BMP7 COL9A1 COL9A2 FBLN1
3 skeleton MP:0005390 9.23 BMP7 COL9A1 COL9A2 COMP FBLN1 MATN3

Drugs & Therapeutics for Osteochondritis Dissecans

Drugs for Osteochondritis Dissecans (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fibrin Tissue Adhesive Phase 3
2 Mitogens Phase 3
3 Astragalus Nutraceutical Not Applicable

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Use of Demineralised Bone Matrix (DBX) in Osteochondritis Dissecans (OCD) Withdrawn NCT01283737 Phase 4
2 Knee Articular Cartilage Repair: Cartilage Autograft Implantation System Versus Conventional Microfracture Unknown status NCT01498029 Phase 3
3 A Randomized Controlled Trial Comparing Chondro-Gide® to Microfracture Alone for Treatment of Knee Cartilage Defects. Completed NCT02993510 Phase 3
4 ACI-C Versus AMIC. A Randomized Trial Comparing Two Methods for Repair of Cartilage Defects in the Knee Active, not recruiting NCT01458782 Phase 2, Phase 3
5 Safety and Efficacy Study of Cells Sheet-Autologous Chondrocyte Implantation to Treat Articular Cartilage Defects Unknown status NCT01694823 Phase 1, Phase 2 CS-ACI
6 Osteochondritis Dissecans of the Knee Unknown status NCT01455987
7 Repair of Articular Osteochondral Defect Unknown status NCT01409447 Not Applicable
8 Study of the Effect of Weight Bearing Status on Patient Outcomes After Surgery for Osteochondral Defects of the Ankle Unknown status NCT01405664 Not Applicable
9 Transplantation of Bone Marrow Stem Cells Stimulated by Proteins Scaffold to Heal Defects Articular Cartilage of the Knee Unknown status NCT01159899 Early Phase 1
10 Talar Avascular Necrosis: Surgical Angiogenesis vs. Core Decompression Unknown status NCT02289976 Not Applicable
11 Study of Two Surgical Drilling Techniques to Treat Juvenile Osteochondritis Dissecans of the Knee Recruiting NCT01754298 Not Applicable
12 Intra Articular Injections With Platelet Rich Plasma in Patients With Juvenile Osteochondritis Dissecans of the Knee: Recruiting NCT02397278 Not Applicable Platelet rich plasma (PRP)
13 Osteochondritis Dissecans of Knee Prospective Cohort Recruiting NCT02771496
14 Conjoint Analysis of Patient Preferences in Joint Interventions Recruiting NCT02664337 Not Applicable
15 Evaluation of the Agili-C Biphasic Implant in the Knee Joint Active, not recruiting NCT01471236 Not Applicable
16 Rehabilitation of Athletes With Knee Osteochondral Injuries Active, not recruiting NCT03452098
17 DeNovo NT Longitudinal Data Collection (LDC) Knee Study Active, not recruiting NCT01329445
18 DeNovo NT Ankle LDC Study Active, not recruiting NCT01347892
19 MRI Findings of Epiphyseal Growth Plate in Healthy Children Enrolling by invitation NCT03190200
20 Cartilage Autograft Implantation System (CAIS) for the Repair of Knee Cartilage Through Cartilage Regeneration Terminated NCT00881023 Not Applicable
21 Chondrofix Osteochondral Allograft Prospective Study Terminated NCT01410136 Not Applicable

Search NIH Clinical Center for Osteochondritis Dissecans

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Osteochondritis Dissecans cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Osteochondritis Dissecans:
DeNovo NT
JACC
RevaFlex
Embryonic/Adult Cultured Cells Related to Osteochondritis Dissecans:
Cultured cartilage (JACC PMIDs: 16233778 19393556 10738867 16226641 11284883 12043781 16233853 19802670 10679677
Juvenile neocartilage (RevaFlex PMIDs: 11603712 23465950 20423988 21439468 19880363 15742595 21828366 20025455

Cochrane evidence based reviews: osteochondritis dissecans

Genetic Tests for Osteochondritis Dissecans

Genetic tests related to Osteochondritis Dissecans:

# Genetic test Affiliating Genes
1 Osteochondritis Dissecans 29 ACAN

Anatomical Context for Osteochondritis Dissecans

The Foundational Model of Anatomy Ontology organs/tissues related to Osteochondritis Dissecans:

19
Epiphysis

MalaCards organs/tissues related to Osteochondritis Dissecans:

41
Bone, Bone Marrow

Publications for Osteochondritis Dissecans

Articles related to Osteochondritis Dissecans:

(show top 50) (show all 686)
# Title Authors Year
1
Internal Fixation of Osteochondritis Dissecans Lesions in the Patellofemoral Joint. ( 28977816 )
2018
2
Open Reduction and Internal Fixation for the Treatment of Symptomatic Osteochondritis Dissecans of the Femoral Head in Patients With Sequelae of Legg-CalvAc-Perthes Disease. ( 29847463 )
2018
3
Location of Osteochondritis Dissecans Lesions of the Capitellum. ( 29678428 )
2018
4
Bilateral Bicondylar Osteochondritis Dissecans in a Child with Spastic Diplegia and Crouch Gait: A Case Report. ( 29952775 )
2018
5
Osteochondritis dissecans of the knee. ( 29197636 )
2018
6
Treatment of Knee Osteochondritis Dissecans With a Cell-Free Biomimetic Osteochondral Scaffold: Clinical and Imaging Findings at Midterm Follow-up. ( 29100468 )
2018
7
Neither significant osteoarthritic changes nor deteriorating subjective outcomes occur after hybrid fixation of osteochondritis dissecans in the young adult. ( 29916011 )
2018
8
Early Results of Single-plug Autologous Osteochondral Grafting for Osteochondritis Dissecans of the Capitellum in Adolescents. ( 29324530 )
2018
9
Fishtail deformity of the distal humerus: association with osteochondritis dissecans of the capitellum. ( 29143868 )
2018
10
Borrowing Ribs to Treat the Elbow: What's the Rub?: Commentary on an article by Kazuki Sato, MD, PhD, et al.: "Costal Osteochondral Autograft for Advanced Osteochondritis Dissecans of the Humeral Capitellum in Adolescent and Young Adult Athletes. Clinical Outcomes with a Mean Follow-up of 4.8 Years. ( 29870454 )
2018
11
Topographic Analysis of 2 Alternative Donor Sites of the Ipsilateral Elbow in the Treatment of Capitellar Osteochondritis Dissecans. ( 29789253 )
2018
12
Juvenile Osteochondritis Dissecans of the Trochlea: A Cohort Study of 34 Trochlear Lesions Associated With Sporting Activities that Load the Patellofemoral Joint. ( 29664877 )
2018
13
Autologous Osteochondral Mosaicplasty for Centrally and Laterally Located, Advanced Capitellar Osteochondritis Dissecans in Teenage Athletes: Clinical Outcomes, Radiography, and Magnetic Resonance Imaging Findings. ( 29738680 )
2018
14
Limitation of in-situ arthroscopic fixation for stable juvenile osteochondritis dissecans in the knee. ( 29944609 )
2018
15
Costal Osteochondral Autograft for Advanced Osteochondritis Dissecans of the Humeral Capitellum in Adolescent and Young Adult Athletes: Clinical Outcomes with a Mean Follow-up of 4.8 Years. ( 29870440 )
2018
16
Fresh Femoral Head Osteochondral Allograft Transplantation for Treating Osteochondritis Dissecans of the Femoral Head. ( 29868400 )
2018
17
Use of Synthetic Osteochondral Implants to Treat Bilateral Shoulder Osteochondritis Dissecans in a Dog. ( 29925093 )
2018
18
Human osteochondritis dissecans fragment-derived chondrocyte characteristics ex vivo, after monolayer expansion-induced de-differentiation, and after re-differentiation in alginate bead culture. ( 29793458 )
2018
19
Radial Head Changes in Osteochondritis Dissecans of the Humeral Capitellum. ( 29707596 )
2018
20
Childhood Obesity is Associated With Osteochondritis Dissecans of the Knee, Ankle, and Elbow in Children and Adolescents. ( 29635262 )
2018
21
Mid and long term outcomes after fixation of osteochondritis dissecans. ( 29881188 )
2018
22
Osteochondritis dissecans-Does platelet rich plasma really help. ( 29896019 )
2018
23
Arthroscopic Management for Acetabular Rim Stress Fracture and Osteochondritis Dissecans in the Athlete With Hip Dysplasia. ( 29868431 )
2018
24
Is there any difference between open and arthroscopic treatment for osteochondritis dissecans (OCD) of the humeral capitellum: a systematic review and meta-analysis. ( 29349503 )
2018
25
Juvenile Osteochondritis Dissecans: Cartilage T2 Mapping of Stable Medial Femoral Condyle Lesions. ( 29762089 )
2018
26
Clinical Outcomes of Osteochondral Allograft Transplantation for Secondary Treatment of Osteochondritis Dissecans of the Knee in Skeletally Mature Patients. ( 29305286 )
2018
27
Epidemiology and patient-reported outcome after juvenile osteochondritis dissecans in the knee. ( 29793821 )
2018
28
The effect of autologous adipose derived mesenchymal stem cell therapy in the treatment of a large osteochondral defect of the knee following unsuccessful surgical intervention of osteochondritis dissecans - a case study. ( 28705162 )
2017
29
Anconeus Muscle-Pedicle Bone Graft With Periosteal Coverage for Osteochondritis Dissecans of the Humeral Capitellum. ( 28944252 )
2017
30
Radiographic comparison of adolescent athletes with elbow osteochondritis dissecans to ulnar collateral ligament injuries and controls. ( 28087165 )
2017
31
Osteochondritis Dissecans of the Humeral Capitellum in Young Athletes: Comparison Between Baseball Players and Gymnasts. ( 28321431 )
2017
32
Osteochondritis Dissecans: Etiology, Pathology, and Imaging with a Special Focus on the Knee Joint. ( 28639852 )
2017
33
Nonoperative Management of Osteochondritis Dissecans of the Knee: Progression to Osteoarthritis and Arthroplasty at Mean 13-Year Follow-up. ( 28812032 )
2017
34
Osteochondritis Dissecans of the Humeral Head: A Case Report and Review of the Literature. ( 28271091 )
2017
35
Hybrid fixation in adult osteochondritis dissecans of the knee. ( 29104071 )
2017
36
Modyfied wedge osteotomy for osteoarthritis of elbow secondary to osteochondritis dissecans in adolecent with multiple epiphyseal dysplasia. A case report. ( 28860685 )
2017
37
Osteochondritis dissecans of the capitellum: lesion size and pattern analysis using quantitative 3-dimensional computed tomography and mapping technique. ( 28478896 )
2017
38
Diagnosis and treatment of osteochondritis dissecans of the humeral capitellum. ( 29276039 )
2017
39
Osteochondritis Dissecans Development. ( 28551287 )
2017
40
Bilateral Osteochondritis Dissecans of the Capitellum in Fraternal Twins: A Case Report. ( 29252874 )
2017
41
Evolution of Osteochondritis Dissecans of the Lateral Femoral Condyle Combined with Discoid Meniscus. ( 29114640 )
2017
42
The Reliability of Assessing Radiographic Healing of Osteochondritis Dissecans of the Knee. ( 28398084 )
2017
43
Age-Specific Prevalence and Clinical Characteristics of Humeral Medial Epicondyle Apophysitis and Osteochondritis Dissecans: Ultrasonographic Assessment of 4249 Players. ( 28589162 )
2017
44
Juvenile Osteochondritis Dissecans of the Knee: Does Magnetic Resonance Imaging Instability Correlate With the Need for Surgical Intervention? ( 29164166 )
2017
45
Preoperative Evaluation of the Grade and Stability of Osteochondritis Dissecans of the Knee by Magnetic Resonance Imaging. ( 29338820 )
2017
46
A Case Report of Osteochondritis Dissecans in a Rare Location: The Lateral Femoral Trochlea. ( 29276465 )
2017
47
Donor-site morbidity after osteochondral autologous transplantation for osteochondritis dissecans of the capitellum: a systematic review and meta-analysis. ( 28391550 )
2017
48
Osteochondritis dissecans located on the medial tibial plateau: a case report. ( 28049517 )
2017
49
Incidence of symptomatic osteochondritis dissecans lesions of the knee: a population-based study in Olmsted County. ( 28711583 )
2017
50
High Rate of Osteoarthritis After Osteochondritis Dissecans Fragment Excision Compared With Surgical Restoration at a Mean 16-Year Follow-up. ( 28419816 )
2017

Variations for Osteochondritis Dissecans

ClinVar genetic disease variations for Osteochondritis Dissecans:

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACAN NM_013227.3(ACAN): c.7249G> A (p.Val2417Met) single nucleotide variant Pathogenic rs267606625 GRCh37 Chromosome 15, 89416172: 89416172
2 ACAN NM_013227.3(ACAN): c.7249G> A (p.Val2417Met) single nucleotide variant Pathogenic rs267606625 GRCh38 Chromosome 15, 88872941: 88872941
3 ACAN NM_013227.3(ACAN): c.7244A> T (p.Asp2415Val) single nucleotide variant Uncertain significance rs879255506 GRCh38 Chromosome 15, 88872936: 88872936
4 ACAN NM_013227.3(ACAN): c.7244A> T (p.Asp2415Val) single nucleotide variant Uncertain significance rs879255506 GRCh37 Chromosome 15, 89416167: 89416167
5 ACAN NM_013227.3(ACAN): c.272delA (p.Arg93Alafs) deletion Pathogenic GRCh37 Chromosome 15, 89382095: 89382095
6 ACAN NM_013227.3(ACAN): c.272delA (p.Arg93Alafs) deletion Pathogenic GRCh38 Chromosome 15, 88838864: 88838864
7 ACAN NM_013227.3(ACAN): c.2026+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 15, 88849732: 88849732
8 ACAN NM_013227.3(ACAN): c.2026+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 15, 89392963: 89392963
9 ACAN NM_013227.3(ACAN): c.7064T> C (p.Leu2355Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 89414730: 89414730
10 ACAN NM_013227.3(ACAN): c.7064T> C (p.Leu2355Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 88871499: 88871499
11 ACAN NM_013227.3(ACAN): c.5391delG (p.Gln1798Serfs) deletion Pathogenic GRCh37 Chromosome 15, 89401207: 89401207
12 ACAN NM_013227.3(ACAN): c.5391delG (p.Gln1798Serfs) deletion Pathogenic GRCh38 Chromosome 15, 88857976: 88857976
13 ACAN NM_013227.3(ACAN): c.4657G> T (p.Glu1553Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 88857242: 88857242
14 ACAN NM_013227.3(ACAN): c.4657G> T (p.Glu1553Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 89400473: 89400473
15 ACAN NM_013227.3(ACAN): c.223T> C (p.Trp75Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 89382046: 89382046
16 ACAN NM_013227.3(ACAN): c.223T> C (p.Trp75Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 88838815: 88838815
17 ACAN NM_013227.3(ACAN): c.1425delA (p.Val478Serfs) deletion Pathogenic GRCh38 Chromosome 15, 88845878: 88845878
18 ACAN NM_013227.3(ACAN): c.1425delA (p.Val478Serfs) deletion Pathogenic GRCh37 Chromosome 15, 89389109: 89389109
19 ACAN NM_013227.3(ACAN): c.7203G> A (p.Trp2401Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 88872895: 88872895
20 ACAN NM_013227.3(ACAN): c.7203G> A (p.Trp2401Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 89416126: 89416126
21 ACAN NM_013227.3(ACAN): c.7090C> T (p.Gln2364Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 89414756: 89414756
22 ACAN NM_013227.3(ACAN): c.7090C> T (p.Gln2364Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 88871525: 88871525
23 ACAN NM_013227.3(ACAN): c.1744delT (p.Phe582Serfs) deletion Pathogenic GRCh37 Chromosome 15, 89392680: 89392680
24 ACAN NM_013227.3(ACAN): c.1744delT (p.Phe582Serfs) deletion Pathogenic GRCh38 Chromosome 15, 88849449: 88849449
25 ACAN NM_013227.3(ACAN): c.1193T> A (p.Ile398Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 89388877: 89388877
26 ACAN NM_013227.3(ACAN): c.1193T> A (p.Ile398Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 88845646: 88845646
27 ACAN NM_013227.3(ACAN): c.1156C> T (p.Arg386Ter) single nucleotide variant Likely pathogenic rs773948197 GRCh37 Chromosome 15, 89388840: 89388840
28 ACAN NM_013227.3(ACAN): c.1156C> T (p.Arg386Ter) single nucleotide variant Likely pathogenic rs773948197 GRCh38 Chromosome 15, 88845609: 88845609

Expression for Osteochondritis Dissecans

Search GEO for disease gene expression data for Osteochondritis Dissecans.

Pathways for Osteochondritis Dissecans

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 ACAN COL9A1 COL9A2 COL9A3 MMP13 MMP3
2
Show member pathways
12.75 ACAN BMP7 COL9A1 COL9A2 COL9A3
3
Show member pathways
12.66 COL9A1 COL9A2 COL9A3 COMP
4
Show member pathways
12.56 COL9A1 COL9A2 COL9A3 COMP
5
Show member pathways
12.49 COL9A1 COL9A2 COL9A3 MMP13 MMP3
6
Show member pathways
12.02 ACAN BMP7 COL9A1 COL9A2 COL9A3 COMP
7
Show member pathways
11.73 COL9A1 COL9A2 COL9A3 COMP
8
Show member pathways
11.47 BMP7 FBLN1 FBLN2
9 11.39 ACAN BMP7 MMP13
10 11.33 MMP13 MMP3
11 11.19 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3
12 11.08 ACAN COMP
13 11.07 COL9A1 COL9A2 COL9A3
14 11.05 ACAN FBLN1 FBLN2 MMP3
15 11.03 COL9A1 COL9A3

GO Terms for Osteochondritis Dissecans

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.85 BMP7 COMP FBLN1 FBLN2 MMP13 MMP3
2 extracellular region GO:0005576 9.7 ACAN BMP7 COL9A1 COL9A2 COL9A3 COMP
3 endoplasmic reticulum lumen GO:0005788 9.62 COL9A1 COL9A2 COL9A3 MATN3
4 collagen trimer GO:0005581 9.56 COL9A1 COL9A2 COL9A3 MMP13
5 collagen type IX trimer GO:0005594 9.33 COL9A1 COL9A2 COL9A3
6 extracellular matrix GO:0031012 9.17 ACAN BMP7 COMP FBLN1 FBLN2 MMP13

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

# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 9.5 BMP7 COL9A1 COMP
2 extracellular matrix disassembly GO:0022617 9.43 ACAN MMP13 MMP3
3 collagen catabolic process GO:0030574 9.37 MMP13 MMP3
4 skeletal system development GO:0001501 9.35 ACAN BMP7 COL9A2 COMP MATN3
5 extracellular matrix organization GO:0030198 9.23 ACAN COL9A1 COL9A2 COL9A3 COMP FBLN1
6 growth plate cartilage development GO:0003417 9.16 COMP MMP13

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.55 COMP FBLN1 FBLN2 MATN3 MMP13
2 collagen binding GO:0005518 9.26 COMP MMP13
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL9A1 COL9A2 COL9A3
4 extracellular matrix structural constituent GO:0005201 9.02 ACAN COMP FBLN1 FBLN2 MATN3

Sources for Osteochondritis Dissecans

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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