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OCD
MCID: OST009
MIFTS: 59

Osteochondritis Dissecans (OCD)

Categories: Bone diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Osteochondritis Dissecans

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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
Ocd 12 15
Kônig Disease 53

Characteristics:

Orphanet epidemiological data:

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

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare systemic and rhumatological diseases
Rare bone diseases


External Ids:

Disease Ontology 12 DOID:84
ICD10 33 M93.2 M93.9
ICD9CM 35 732.7
SNOMED-CT 68 70736000 82562007
Orphanet 59 ORPHA2764
ICD10 via Orphanet 34 M93.2
MESH via Orphanet 45 D010008
UMLS via Orphanet 74 C0029421
Sources

Summaries for Osteochondritis Dissecans

About this section
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 epiphyseal dysplasia, multiple, 2. 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 bone, brain and epiphysis, and related phenotypes are gait disturbance 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...

Sources

Related Diseases for Osteochondritis Dissecans

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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 153)
# Related Disease Score Top Affiliating Genes
1 familial osteochondritis dissecans 34.2 ACAN FBLN1 FBLN2
2 epiphyseal dysplasia, multiple, 2 31.9 COL9A1 COL9A2 COL9A3 COMP
3 stickler syndrome 30.5 COL9A1 COL9A2 COL9A3
4 arthritis 30.4 ACAN MMP13 MMP3
5 osteoarthritis 29.9 ACAN COL9A1 COMP MATN3 MMP13 MMP3
6 multiple epiphyseal dysplasia 29.8 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3
7 synovitis 29.8 COMP MMP13 MMP3
8 degenerative disc disease 29.8 ACAN COL9A3
9 intervertebral disc disease 29.6 COL9A2 COL9A3
10 spinal stenosis 29.1 ACAN BMP7 COL9A1 COL9A2 COL9A3 MMP3
11 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 13.0
12 idiopathic avascular necrosis 12.0
13 gilles de la tourette syndrome 11.4
14 osteochondrosis 11.4
15 trichotillomania 11.3
16 achilles bursitis 11.3
17 pediatric autoimmune neuropsychiatric disorders associated with streptococcus infections 11.2
18 ruvalcaba syndrome 11.0
19 bazex syndrome 11.0
20 early congenital syphilis 11.0
21 succinic semialdehyde dehydrogenase deficiency 11.0
22 basal ganglia disease 11.0
23 bain type of x-linked syndromic intellectual disability 11.0
24 pediatric acute-onset neuropsychiatric syndrome 11.0
25 scheuermann disease 11.0
26 panner disease 11.0
27 anxiety 10.6
28 legg-calve-perthes disease 10.6
29 depression 10.5
30 schizophrenia 10.4
31 osteochondrodysplasia 10.4
32 thiemann disease 10.4
33 kohler's disease 10.4
34 osgood-schlatter's disease 10.4
35 kienbock's disease 10.4
36 coxa vara 10.3
37 osteonecrosis 10.3
38 chondrocalcinosis 10.3
39 juvenile rheumatoid arthritis 10.3
40 dwarfism 10.3
41 autism 10.3
42 eating disorder 10.3
43 achondroplasia 10.2 ACAN COMP
44 tropical calcific pancreatitis 10.2
45 autism spectrum disorder 10.2
46 cartilage disease 10.2 ACAN COMP
47 achondrogenesis, type ii 10.1 ACAN COMP
48 transient arthritis 10.1 ACAN COMP
49 carpal tunnel syndrome 10.1
50 spondyloepiphyseal dysplasia with congenital joint dislocations 10.1

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



Diseases related to Osteochondritis Dissecans
Sources

Symptoms & Phenotypes for Osteochondritis Dissecans

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Human phenotypes related to Osteochondritis Dissecans:

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

Drugs & Therapeutics for Osteochondritis Dissecans

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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 Not Applicable

Interventional clinical trials:

(show all 23)
# 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 A Study of MACI in Patients Aged 10 to <17 Years With Symptomatic Chondral or Osteochondral Defects of the Knee Recruiting NCT03588975 Phase 3
5 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
6 Safety and Efficacy Study of Cells Sheet-Autologous Chondrocyte Implantation to Treat Articular Cartilage Defects Unknown status NCT01694823 Phase 1, Phase 2 CS-ACI
7 Osteochondritis Dissecans of the Knee Unknown status NCT01455987
8 Repair of Articular Osteochondral Defect Unknown status NCT01409447 Not Applicable
9 Evaluation of the Agili-C Biphasic Implant in the Knee Joint Unknown status NCT01471236 Not Applicable
10 Study of the Effect of Weight Bearing Status on Patient Outcomes After Surgery for Osteochondral Defects of the Ankle Unknown status NCT01405664 Not Applicable
11 Transplantation of Bone Marrow Stem Cells Stimulated by Proteins Scaffold to Heal Defects Articular Cartilage of the Knee Unknown status NCT01159899 Early Phase 1
12 Talar Avascular Necrosis: Surgical Angiogenesis vs. Core Decompression Unknown status NCT02289976 Not Applicable
13 Study of Two Surgical Drilling Techniques to Treat Juvenile Osteochondritis Dissecans of the Knee Recruiting NCT01754298 Not Applicable
14 Intra Articular Injections With Platelet Rich Plasma in Patients With Juvenile Osteochondritis Dissecans of the Knee: Recruiting NCT02397278 Not Applicable Platelet rich plasma (PRP)
15 Osteochondritis Dissecans of Knee Prospective Cohort Recruiting NCT02771496
16 Conjoint Analysis of Patient Preferences in Joint Interventions Recruiting NCT02664337 Not Applicable
17 Elbow Arthroscopy Data Analysis Active, not recruiting NCT03656185
18 Rehabilitation of Athletes With Knee Osteochondral Injuries Active, not recruiting NCT03452098
19 DeNovo NT Longitudinal Data Collection (LDC) Knee Study Active, not recruiting NCT01329445
20 DeNovo NT Ankle LDC Study Active, not recruiting NCT01347892
21 MRI Findings of Epiphyseal Growth Plate in Healthy Children Enrolling by invitation NCT03190200
22 Cartilage Autograft Implantation System (CAIS) for the Repair of Knee Cartilage Through Cartilage Regeneration Terminated NCT00881023 Not Applicable
23 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�, particulated juvenile cartilage for cartilage repair
JACC�, cultured cartilage for chondral lesion
RevaFlex�, engineered tissue graft of juvenile cartilage for cartilage repair
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

Sources

Genetic Tests for Osteochondritis Dissecans

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Genetic tests related to Osteochondritis Dissecans:

# Genetic test Affiliating Genes
1 Osteochondritis Dissecans 29 ACAN
Sources

Anatomical Context for Osteochondritis Dissecans

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MalaCards organs/tissues related to Osteochondritis Dissecans:

41
Bone, Brain

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

19
Epiphysis
Sources

Publications for Osteochondritis Dissecans

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Articles related to Osteochondritis Dissecans:

(show top 50) (show all 1056)
# 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.: &amp;quot;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
Osteochondritis Dissecans in the Knee of Skeletally Immature Patients: Rates of Persistent Pain, Osteoarthritis, and Arthroplasty at Mean 14-Years' Follow-Up. ( 29998745 )
2018
28
Characterization of cellular and matrix alterations in the early pathogenesis of osteochondritis dissecans in pigs using second harmonic generation and two-photon excitation fluorescence microscopy. ( 29460985 )
2018
29
Osteochondritis Dissecans of the Knee - Conservative Treatment Strategies: A Systematic Review. ( 29468901 )
2018
30
Variation in stress distribution patterns across the radial head fovea in osteochondritis dissecans: predictive factors in radiographic findings. ( 29477668 )
2018
31
Is there any difference between open and arthroscopic treatment for osteochondritis dissecans of the humeral capitellum? ( 29546608 )
2018
32
Management of Osteochondritis Dissecans of the Femoral Condyle: A Critical Analysis Review. ( 29557795 )
2018
33
Incidence of Osteochondritis Dissecans in Adults. ( 29613834 )
2018
34
Epidemiology and patient-reported outcome after juvenile osteochondritis dissecans in the knee. ( 29793821 )
2018
35
Osteochondritis dissecans shows a severe course and poor outcome in patients with juvenile idiopathic arthritis: a matched pair study of 22 cases. ( 29992441 )
2018
36
Internal Fixation of Unstable Osteochondritis Dissecans: Do Open Growth Plates Improve Healing Rate? ( 29995442 )
2018
37
Clinical and Biological Signature of Osteochondritis Dissecans in a Cross-Sectional Study. ( 29998134 )
2018
38
Osteochondritis Dissecans of the Knee: Etiology and Pathogenetic Mechanisms. A Systematic Review. ( 29998741 )
2018
39
Osteochondritis dissecans of the trochlea: case report. ( 30027086 )
2018
40
"The quiet necrosis": An early medieval case of multifocal juvenile osteochondritis dissecans of the knee. ( 30077620 )
2018
41
Grade I Osteochondritis Dissecans in a Young Professional Athlete. ( 30078890 )
2018
42
OSTEOCHONDRITIS DISSECANS OF THE RADIAL HEAD IN A YOUNG ATHLETE: A CASE REPORT. ( 30140566 )
2018
43
Osteochondritis Dissecans of the Knee: Short-Term Outcomes of a Hybrid Technique to Restore a Partially Salvageable Progeny Fragment. ( 30141694 )
2018
44
Decreased Defect Size and Partial Restoration of Subchondral Bone on Computed Tomography After Arthroscopic Debridement and Microfracture for Osteochondritis Dissecans of the Capitellum. ( 30141965 )
2018
45
Osteochondritis Dissecans Lesion of the Radial Head. ( 30180223 )
2018
46
OSTEOCHONDRAL AUTOGRAFT TRANSFER FOR TREATMENT OF STIFLE OSTEOCHONDRITIS DISSECANS IN TWO RELATED SNOW LEOPARDS ( PANTHERA UNCIA). ( 30212335 )
2018
47
Arthroscopic Meniscopexy for the Treatment of Nontraumatic Osteochondritis Dissecans in the Knee Joint of Adult Patients. ( 30221986 )
2018
48
A Magnetic Resonance Imaging-Based Staging System for Osteochondritis Dissecans of the Elbow: A Validation Study Against the International Cartilage Repair Society Classification. ( 30225272 )
2018
49
Treatment of Capitellar Osteochondritis Dissecans With a Novel Regenerative Technique: Case Report of 3 Patients After 4 Years. ( 30228993 )
2018
50
Bone Peg Grafting for Capitellar Osteochondritis Dissecans in Adolescent Baseball Players. ( 30233980 )
2018
Sources

Variations for Osteochondritis Dissecans

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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 GRCh38 Chromosome 15, 88845609: 88845609
28 ACAN NM_013227.3(ACAN): c.1156C> T (p.Arg386Ter) single nucleotide variant Likely pathogenic rs773948197 GRCh37 Chromosome 15, 89388840: 89388840
Sources

Expression for Osteochondritis Dissecans

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

Pathways for Osteochondritis Dissecans

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Integrin Pathway 64
Show member pathways
 13.11 ACAN COL9A1 COL9A2 COL9A3 MMP13 MMP3
2
Phospholipase-C Pathway 64
Show member pathways
 12.8 ACAN BMP7 COL9A1 COL9A2 COL9A3
3
PI3K-Akt signaling pathway 37
Show member pathways
 12.7 COL9A1 COL9A2 COL9A3 COMP
4
Focal Adhesion 1 37
Show member pathways
 12.59 COL9A1 COL9A2 COL9A3 COMP
5
Collagen chain trimerization 66
Show member pathways
 12.52 COL9A1 COL9A2 COL9A3 MMP13 MMP3
6
Degradation of the extracellular matrix 66
Show member pathways
 12.02 ACAN BMP7 COL9A1 COL9A2 COL9A3 COMP
7
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 22
Show member pathways
 11.84 ACAN COL9A1 COL9A2 COL9A3 MMP13 MMP3
8
ECM-receptor interaction 37
Show member pathways
 11.8 COL9A1 COL9A2 COL9A3 COMP
9
Elastic fibre formation 66
Show member pathways
 11.52 BMP7 FBLN1 FBLN2
10
Endochondral Ossification 1
11.45 ACAN BMP7 MMP13
11
Cell adhesion_ECM remodeling 22
11.35 MMP13 MMP3
12
ECM proteoglycans 66
11.19 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3
13
NCAM1 interactions 66
11.11 COL9A1 COL9A2 COL9A3
14
Articular Cartilage Extracellular Matrix Pathway 65
11.1 ACAN COMP
15
Gastric Cancer Network 2 1
11.05 COL9A1 COL9A3
16
Cell adhesion_Cell-matrix glycoconjugates 22
11.05 ACAN FBLN1 FBLN2 MMP3
17
G-protein signaling_Rap2B regulation pathway 22
10.73 ACAN BMP7 COL9A1 COL9A2 COL9A3
Sources

GO Terms for Osteochondritis Dissecans

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.91 BMP7 COL9A1 COL9A2 COL9A3 COMP FBLN1
2 collagen-containing extracellular matrix GO:0062023 9.77 ACAN BMP7 COMP FBLN1 FBLN2
3 endoplasmic reticulum lumen GO:0005788 9.71 COL9A1 COL9A2 COL9A3 MATN3
4 extracellular region GO:0005576 9.7 ACAN BMP7 COL9A1 COL9A2 COL9A3 COMP
5 collagen trimer GO:0005581 9.62 COL9A1 COL9A2 COL9A3 MMP13
6 basement membrane GO:0005604 9.61 ACAN COL9A2 FBLN1
7 collagen type IX trimer GO:0005594 9.33 COL9A1 COL9A2 COL9A3
8 extracellular matrix GO:0031012 9.32 ACAN COL9A1 COL9A2 COL9A3 COMP FBLN1

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 9.43 BMP7 COL9A1 COMP
2 extracellular matrix disassembly GO:0022617 9.37 MMP13 MMP3
3 skeletal system development GO:0001501 9.35 ACAN BMP7 COL9A2 COMP MATN3
4 collagen catabolic process GO:0030574 9.32 MMP13 MMP3
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 9.43 ACAN COMP FBLN1 FBLN2 MATN3 MMP13
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.33 COL9A1 COL9A2 COL9A3
3 fibronectin binding GO:0001968 9.26 COMP FBLN1
4 extracellular matrix structural constituent GO:0005201 9.23 ACAN COL9A1 COL9A2 COL9A3 COMP FBLN1
Sources

Sources for Osteochondritis Dissecans

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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