EDM
MCID: MLT007
MIFTS: 58

Multiple Epiphyseal Dysplasia (EDM)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Multiple Epiphyseal Dysplasia

MalaCards integrated aliases for Multiple Epiphyseal Dysplasia:

Name: Multiple Epiphyseal Dysplasia 12 52 25 58 36 29 54 6 15 71
Med 52 25 58
Epiphyseal Dysplasia, Multiple, 1 25 71
Epiphyseal Dysplasia, Multiple, 4 25 71
Epiphyseal Dysplasia, Multiple, 2 25 71
Epiphyseal Dysplasia, Multiple, 3 25 71
Epiphyseal Dysplasia, Multiple, 5 25 71
Polyepiphyseal Dysplasia 12 58
Osteochondrodysplasias 43 71
Edm 52 58
Multiple Epiphyseal Dysplasia, Autosomal Recessive 25
Multiple Epiphyseal Dysplasia, Autosomal Dominant 25
Epiphyseal Dysplasia, Fairbank Type 25
Epiphyseal Dysplasia, Ribbing Type 25
Dysplasia, Epiphyseal, Multiple 39
Epiphyseal Dysplasia, Multiple 52
Edm1 25
Edm4 25
Edm2 25
Edm3 25
Edm5 25
Rmed 25

Characteristics:

Orphanet epidemiological data:

58
multiple epiphyseal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:12721
KEGG 36 H00476
ICD9CM 34 756.56
MeSH 43 D010009
SNOMED-CT 67 59708000
ICD10 via Orphanet 33 Q77.3
UMLS via Orphanet 72 C0026760
Orphanet 58 ORPHA251
UMLS 71 C0026760 C0029422 C1832998 more

Summaries for Multiple Epiphyseal Dysplasia

Genetics Home Reference : 25 Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood. Recessive multiple epiphyseal dysplasia is distinguished from the dominant type by malformations of the hands, feet, and knees and abnormal curvature of the spine (scoliosis). About 50 percent of individuals with recessive multiple epiphyseal dysplasia are born with at least one abnormal feature, including an inward- and upward-turning foot (clubfoot), an opening in the roof of the mouth (cleft palate), an unusual curving of the fingers or toes (clinodactyly), or ear swelling. An abnormality of the kneecap called a double-layered patella is also relatively common.

MalaCards based summary : Multiple Epiphyseal Dysplasia, also known as med, is related to multiple epiphyseal dysplasia, autosomal dominant and epiphyseal dysplasia, multiple, 4, and has symptoms including arthralgia, hip pain and knee pain. An important gene associated with Multiple Epiphyseal Dysplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Vaccines and Natriuretic Peptide, C-Type have been mentioned in the context of this disorder. Affiliated tissues include bone, t cells and bone marrow, and related phenotypes are delayed skeletal maturation and joint stiffness

Disease Ontology : 12 An osteochondrodysplasia that has material basis in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.

NIH Rare Diseases : 52 Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of MED, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive . Signs and symptoms may include joint pain in the hips and knees; early-onset arthritis ; a waddling walk; and mild short stature as adults. Recessive MED may also cause malformations of the hands, feet, and knees; scoliosis ; or other abnormalities. Most people are diagnosed during childhood, but mild cases may not be diagnosed until adulthood. Dominant MED is caused by mutations in the COMP , COL9A1 , COL9A2 , COL9A3 , or MATN3 genes (or can be of unknown cause), and recessive MED is caused by mutations in the SLC26A2 gene.

KEGG : 36 Multiple epiphyseal dysplasia (EDM) is a genetically heterogeneous condition where ossification of epiphyses is delayed. Mutations causing MED have been identified in COMP, DTDST, MATN3, COL9A1, COL9A2, and COL9A3. Mutations in the COL2A1 gene cause multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD).

Wikipedia : 74 Fairbank's disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form: 1... more...

Related Diseases for Multiple Epiphyseal Dysplasia

Diseases in the Multiple Epiphyseal Dysplasia family:

Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 4
Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 3
Epiphyseal Dysplasia, Multiple, 5 Epiphyseal Dysplasia, Multiple, 6
Epiphyseal Dysplasia, Multiple, 7 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly
Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia, Recessive

Diseases related to Multiple Epiphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 812)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia, autosomal dominant 34.1 MATN3 COMP COL9A3 COL9A2 COL9A1
2 epiphyseal dysplasia, multiple, 4 34.0 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
3 epiphyseal dysplasia, multiple, 3 33.9 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
4 epiphyseal dysplasia, multiple, 6 33.9 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
5 epiphyseal dysplasia, multiple, 1 33.9 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
6 epiphyseal dysplasia, multiple, 5 33.9 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
7 multiple epiphyseal dysplasia due to collagen 9 anomaly 33.8 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
8 epiphyseal dysplasia, multiple, 2 33.7 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
9 platyspondylic lethal skeletal dysplasia, torrance type 32.5 MATN3 COMP COL2A1
10 larsen syndrome 32.1 SLC26A2 COL2A1 CANT1
11 schneckenbecken dysplasia 32.1 SLC26A2 COL2A1 COL11A2 COL11A1
12 hypochondrogenesis 32.1 SLC26A2 MATN3 COL9A1 COL2A1 ACAN
13 otospondylomegaepiphyseal dysplasia, autosomal dominant 32.1 COL9A1 COL2A1 COL11A2 COL11A1
14 thanatophoric dysplasia, type i 32.0 PTH1R FGFR3 COMP COL2A1
15 kniest dysplasia 31.9 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
16 metachondromatosis 31.9 PTH1R COL2A1
17 otospondylomegaepiphyseal dysplasia, autosomal recessive 31.8 COMP COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
18 campomelic dysplasia 31.4 SOX9 COL9A1 COL2A1 COL11A2 ACAN
19 achondrogenesis, type ii 31.3 MATN3 COMP COL2A1 COL11A2
20 fibrochondrogenesis 31.0 SOX9 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
21 legg-calve-perthes disease 30.9 SLC26A2 MATN3 COL9A1 COL2A1
22 brachyolmia 30.8 SOX9 SLC26A2 PAPSS2 COL2A1
23 arthropathy 30.7 COMP COL2A1 ACAN
24 back pain 30.7 COL9A3 COL9A2
25 metatropic dysplasia 30.6 SOX9 COL2A1
26 clubfoot 30.6 SLC26A2 COL9A2 COL9A1 COL2A1
27 diastrophic dysplasia 30.5 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
28 brittle bone disorder 30.5 SOX9 PTH1R FGFR3 DCN COL2A1 ACAN
29 chondromalacia 30.4 COMP ACAN
30 achondrogenesis, type ia 30.3 SLC26A2 COL2A1
31 atelosteogenesis 30.3 SLC26A2 PAPSS2 COL9A3 COL9A2 COL9A1
32 skeletal dysplasias 30.3 PTH1R MATN3 FGFR3 COMP COL2A1
33 metaphyseal dysplasia 30.3 PTH1R MATN3 COL2A1
34 desbuquois dysplasia 30.2 SLC26A2 CANT1
35 hypochondroplasia 30.1 FGFR3 COMP COL2A1
36 pseudoachondroplasia 30.1 SLC26A2 MATN3 DCN COMP COL9A3 COL9A2
37 achondrogenesis, type ib 30.1 SLC26A2 PAPSS2 COL9A1
38 spondyloepimetaphyseal dysplasia, matrilin-3 related 30.1 TRAPPC2 SLC26A2 PAPSS2 MATN3 COMP COL9A3
39 brachydactyly 29.8 PAPSS2 FGFR3 COMP COL2A1 ACAN
40 achondroplasia, severe, with developmental delay and acanthosis nigricans 29.7 TRAPPC2 FGFR3
41 osteochondrosis 29.6 SOX9 COL9A3 COL9A2 COL9A1 COL2A1 ACAN
42 intervertebral disc disease 29.6 COL9A3 COL9A2 COL11A2 COL11A1
43 marshall syndrome 29.6 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
44 achondrogenesis 29.5 TRAPPC2 SLC26A2 MATN3 COMP COL9A3 COL9A2
45 cartilage disease 29.4 SOX9 COMP COL2A1 ACAN
46 spondyloepiphyseal dysplasia congenita 29.4 TRAPPC2 MATN3 COMP COL9A3 COL9A1 COL2A1
47 myopia 29.4 DCN COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
48 enchondromatosis, multiple, ollier type 29.3 PTH1R FGFR3 COL2A1 ACAN
49 sensorineural hearing loss 29.3 FGFR3 COL9A2 COL2A1 COL11A2 COL11A1
50 osteochondritis dissecans 29.2 SOX9 MATN3 COMP COL9A3 COL9A2 COL9A1

Graphical network of the top 20 diseases related to Multiple Epiphyseal Dysplasia:



Diseases related to Multiple Epiphyseal Dysplasia

Symptoms & Phenotypes for Multiple Epiphyseal Dysplasia

Human phenotypes related to Multiple Epiphyseal Dysplasia:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 abnormality of the ulna 58 31 hallmark (90%) Very frequent (99-80%) HP:0002997
4 abnormal cortical bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003103
5 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
6 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
7 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
8 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
9 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
10 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
11 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
12 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
13 small hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0200055
14 rough bone trabeculation 58 31 hallmark (90%) Very frequent (99-80%) HP:0100670
15 abnormality of the carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001191
16 abnormality of the tarsal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001850
17 abnormality of t cell physiology 58 31 hallmark (90%) Very frequent (99-80%) HP:0011840
18 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
19 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
20 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
21 flattened femoral head 58 31 frequent (33%) Frequent (79-30%) HP:0008812
22 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
23 micromelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002983
24 anonychia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001798
25 abnormality of femur morphology 58 Frequent (79-30%)
26 abnormality of the eye 58 Very frequent (99-80%)
27 abnormality of pelvic girdle bone morphology 58 Very frequent (99-80%)

UMLS symptoms related to Multiple Epiphyseal Dysplasia:


arthralgia, hip pain, knee pain

GenomeRNAi Phenotypes related to Multiple Epiphyseal Dysplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.23 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 COMP

MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 COL11A1 COL11A2 COL2A1 COMP DCN FGFR3
2 craniofacial MP:0005382 10.16 COL11A1 COL11A2 COL2A1 DCN FGFR3 KIF7
3 immune system MP:0005387 10.06 COL11A1 COL2A1 COL9A1 COL9A3 COMP DCN
4 digestive/alimentary MP:0005381 10.03 COL11A1 COL2A1 DCN FGFR3 KIF7 PAPSS2
5 limbs/digits/tail MP:0005371 10.03 COL11A1 COL2A1 COL9A1 COL9A2 COMP FGFR3
6 hearing/vestibular/ear MP:0005377 9.97 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
7 skeleton MP:0005390 9.8 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COMP
8 respiratory system MP:0005388 9.7 COL11A1 COL2A1 DCN FGFR3 KIF7 PTH1R
9 vision/eye MP:0005391 9.23 CANT1 COL2A1 COL9A1 DCN FGFR3 KIF7

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia

Drugs for Multiple Epiphyseal Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2 Natriuretic Peptide, C-Type Phase 3
3
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
4
Losartan Approved Phase 2 114798-26-4 3961
5
Angiotensin II Approved, Investigational Phase 2 4474-91-3, 11128-99-7, 68521-88-0 172198
6 Psychotropic Drugs Phase 2
7 Histone Deacetylase Inhibitors Phase 2
8 Anticonvulsants Phase 2
9 Neurotransmitter Agents Phase 2
10 Angiotensin II Type 1 Receptor Blockers Phase 2
11 Angiotensinogen Phase 2
12 Angiotensin Receptor Antagonists Phase 2
13 Antihypertensive Agents Phase 2
14 Giapreza Phase 2
15 Anti-Arrhythmia Agents Phase 2
16 Pharmaceutical Solutions

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Immunodeficiency in Cartilage-hair Hypoplasia: Correlation With Pulmonary Disease, Infections and Malignancy Active, not recruiting NCT02383797 Phase 4
2 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
3 A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Completed NCT03197766 Phase 3 BMN 111;Placebo
4 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
5 A Phase 3, Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children With Achondroplasia Active, not recruiting NCT03424018 Phase 3 BMN 111
6 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
7 A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI Recruiting NCT03632213 Phase 2 Losartan;Placebo
8 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia, Age 0 to < 60 Months Enrolling by invitation NCT03583697 Phase 2 BMN 111;Placebo
9 Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation: A Phase I Study Completed NCT00186914 Phase 1
10 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
11 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
12 Gait Analysis in Patients With MPS IVA Treated With Enzyme Replacement Therapy Completed NCT01920828
13 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
14 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). Completed NCT03139903
15 Psychological Concomitants of Morquio Syndrome Completed NCT01752296
16 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
17 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
18 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Completed NCT03872713
19 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy Completed NCT02208661
20 Clinical & Radiographic Evaluation of Split-crest Ridge Technique Versus Osseodensification Technique for Dental Implant Placement Into Narrow Alveolar Ridge Recruiting NCT04408781
21 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Recruiting NCT03150069
22 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Recruiting NCT02294877 Vimizim® (elosulfase alfa)
23 Natural History of Atypical Morquio A Disease: a 5-years Prospective Study in a Series of 9 Adult Patients Followed in a Single Expert Center Recruiting NCT03204370 Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]
24 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Recruiting NCT03548779
25 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
26 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01457456
27 An Expanded Access Study of the Feasibility of Using the CliniMACS® Device for CD34+ Cell Selection and T Cell Depletion for Graft-versus-Host Disease Prophylaxis in Alternative Donor Stem Cell Transplant Recipients Available NCT01200017
28 Physical Activity, Motor Competence, Pulmonary Function, and Quality of Life in Children With Severe Spinal Disease Enrolling by invitation NCT03494829
29 Identification and Characterization of Bone-related Genetic Variants in Families Enrolling by invitation NCT02762318
30 A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Terminated NCT00787995
31 Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population Terminated NCT01675674
32 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa Withdrawn NCT02153255

Search NIH Clinical Center for Multiple Epiphyseal Dysplasia

Cochrane evidence based reviews: osteochondrodysplasias

Genetic Tests for Multiple Epiphyseal Dysplasia

Genetic tests related to Multiple Epiphyseal Dysplasia:

# Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia (disease) 29

Anatomical Context for Multiple Epiphyseal Dysplasia

MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia:

40
Bone, T Cells, Bone Marrow, Eye, Brain, Testes, Heart

Publications for Multiple Epiphyseal Dysplasia

Articles related to Multiple Epiphyseal Dysplasia:

(show top 50) (show all 423)
# Title Authors PMID Year
1
Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin. 54 61
20033473 2010
2
Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia. 61 54
18789631 2009
3
The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding. 61 54
19276170 2009
4
Ribozyme-mediated reduction of wild-type and mutant cartilage oligomeric matrix protein (COMP) mRNA and protein. 54 61
19237461 2009
5
Inverse association of general joint hypermobility with hand and knee osteoarthritis and serum cartilage oligomeric matrix protein levels. 54 61
19035482 2008
6
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 54 61
18708426 2008
7
The role of cartilage oligomeric matrix protein (COMP) in skeletal disease. 54 61
18855621 2008
8
Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia. 54 61
18546327 2008
9
Multiple functions of the von Willebrand Factor A domain in matrilins: secretion, assembly, and proteolysis. 61 54
18518980 2008
10
COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. 54 61
17570134 2008
11
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. 61 54
18553123 2008
12
Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases. 61 54
17881354 2007
13
Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation. 61 54
17517694 2007
14
Cartilage oligomeric matrix protein associates with granulin-epithelin precursor (GEP) and potentiates GEP-stimulated chondrocyte proliferation. 61 54
17307734 2007
15
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. 61 54
17133256 2007
16
Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes. 61 54
17200202 2007
17
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion. 54 61
16928687 2006
18
Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2). 61 54
16440132 2006
19
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 54 61
16642506 2006
20
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype. 54 61
16514635 2006
21
Insights from a transgenic mouse model on the role of SLC26A2 in health and disease. 61 54
17120769 2006
22
In vivo human Cartilage oligomeric matrix protein (COMP) promoter activity. 61 54
16214313 2005
23
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. 61 54
16287128 2005
24
Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not. 54 61
16199550 2005
25
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group. 61 54
15880723 2005
26
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. 54 61
15756302 2005
27
Secretion of cartilage oligomeric matrix protein is affected by the signal peptide. 54 61
15749701 2005
28
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. 54 61
15703192 2005
29
Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation. 54 61
15633184 2005
30
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. 54 61
15503005 2005
31
COMP mutations, chondrocyte function and cartilage matrix. 61 54
15694129 2005
32
Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. 61 54
15551337 2005
33
Pathogenetics of the human SLC26 transporters. 54 61
15720248 2005
34
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. 54 61
15459972 2004
35
Leukemia/lymphoma-related factor, a POZ domain-containing transcriptional repressor, interacts with histone deacetylase-1 and inhibits cartilage oligomeric matrix protein gene expression and chondrogenesis. 54 61
15337766 2004
36
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. 54 61
15266613 2004
37
Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate. 54 61
15183431 2004
38
Matrilin-3 is dispensable for mouse skeletal growth and development. 54 61
14749384 2004
39
Transcription influences the types of deletion and expansion products in an orientation-dependent manner from GAC*GTC repeats. 61 54
15317871 2004
40
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 54 61
14729835 2004
41
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. 54 61
14684695 2003
42
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 54 61
12966518 2003
43
Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 54 61
12884427 2003
44
In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias. 54 61
14692227 2003
45
Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein affects its early vesicle trafficking in endoplasmic reticulum and induces apoptosis. 61 54
12819015 2003
46
Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia. 61 54
12792737 2003
47
Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. 54 61
12768438 2003
48
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. 54 61
12483304 2003
49
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 54 61
12525546 2003
50
Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations of COMP defects. 61 54
12483437 2002

Variations for Multiple Epiphyseal Dysplasia

ClinVar genetic disease variations for Multiple Epiphyseal Dysplasia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL2A1 NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp)SNV Likely pathogenic 374114 rs1057518908 12:48377895-48377895 12:47984112-47984112

Copy number variations for Multiple Epiphyseal Dysplasia from CNVD:

7 (show all 32)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 39428 10 115018486 115018506 Amplification Multiple Epiphyseal Dysplasia
2 52285 11 15758934 15758954 Amplification Multiple Epiphyseal Dysplasia
3 53679 11 3184563 3184744 Amplification Multiple Epiphyseal Dysplasia
4 99438 16 26461468 26461496 Deletion Multiple Epiphyseal Dysplasia
5 102850 16 57483910 57483929 Deletion Multiple Epiphyseal Dysplasia
6 106008 16 85055214 85055662 Amplification Multiple Epiphyseal Dysplasia
7 118220 17 76288768 76288791 Amplification Multiple Epiphyseal Dysplasia
8 135184 2 112821042 112821070 Deletion Multiple Epiphyseal Dysplasia
9 136277 2 128814416 128814555 Amplification Multiple Epiphyseal Dysplasia
10 161380 22 18529953 18529978 Deletion Multiple Epiphyseal Dysplasia
11 161381 22 18530629 18530648 Deletion Multiple Epiphyseal Dysplasia
12 161382 22 18531250 18531269 Deletion Multiple Epiphyseal Dysplasia
13 163174 22 25138800 25138821 Deletion Multiple Epiphyseal Dysplasia
14 168386 3 129646964 129647007 Amplification Multiple Epiphyseal Dysplasia
15 173871 3 196980441 196980460 Deletion Multiple Epiphyseal Dysplasia
16 197166 5 175951772 175952237 Amplification Multiple Epiphyseal Dysplasia
17 201899 5 7425363 7425390 Deletion Multiple Epiphyseal Dysplasia
18 203719 6 1 7000000 Microdeletion Multiple Epiphyseal Dysplasia
19 205380 6 1257674 1259993 Deletion FOXQ1 Multiple Epiphyseal Dysplasia
20 205876 6 1335067 1340832 Deletion FOXF2 Multiple Epiphyseal Dysplasia
21 207398 6 1555679 1559128 Deletion FOXC1 Multiple Epiphyseal Dysplasia
22 209055 6 237100 296355 Loss DUSP22 Multiple Epiphyseal Dysplasia
23 209194 6 25035168 25035187 Deletion Multiple Epiphyseal Dysplasia
24 209531 6 2639727 2639800 Amplification Multiple Epiphyseal Dysplasia
25 209532 6 2639790 2639903 Amplification Multiple Epiphyseal Dysplasia
26 211751 6 336751 356443 Loss IRF4 Multiple Epiphyseal Dysplasia
27 215939 6 83437089 83437111 Amplification Multiple Epiphyseal Dysplasia
28 219407 7 126686884 126686912 Deletion Multiple Epiphyseal Dysplasia
29 225859 7 51398102 51398130 Deletion Multiple Epiphyseal Dysplasia
30 235390 8 143598819 143598899 Amplification Multiple Epiphyseal Dysplasia
31 257729 X 108403340 108403362 Deletion Multiple Epiphyseal Dysplasia
32 262359 X 3452647 3452672 Deletion Multiple Epiphyseal Dysplasia

Expression for Multiple Epiphyseal Dysplasia

Search GEO for disease gene expression data for Multiple Epiphyseal Dysplasia.

Pathways for Multiple Epiphyseal Dysplasia

Pathways related to Multiple Epiphyseal Dysplasia according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 SOX9 FGFR3 COL9A3 COL9A2 COL9A1 COL2A1
2
Show member pathways
13.23 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
3
Show member pathways
12.87 FGFR3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
4
Show member pathways
12.84 FGFR3 COMP COL9A3 COL9A2 COL9A1 COL2A1
5
Show member pathways
12.75 COMP COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
6
Show member pathways
12.7 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
7
Show member pathways
12.31 MATN3 DCN COMP COL9A3 COL9A2 COL9A1
8
Show member pathways
12 COMP COL9A3 COL9A2 COL9A1 COL2A1
9 11.81 SOX9 COL2A1 ACAN
10 11.79 SOX9 FGFR3 COL2A1 COL11A2
11 11.74 SOX9 DCN COL2A1 ACAN
12 11.37 SOX9 PTH1R FGFR3 COL2A1 ACAN
13 11.25 COL9A3 COL9A2 COL9A1
14 11.18 DCN COMP COL2A1 ACAN
15 10.92 MATN3 DCN COMP COL9A3 COL9A2 COL9A1
16 10.76 FGFR3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2

GO Terms for Multiple Epiphyseal Dysplasia

Cellular components related to Multiple Epiphyseal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.15 MATN3 FGFR3 DCN COMP COL9A3 COL9A2
2 extracellular space GO:0005615 10.1 PDIA4 MATN3 DCN COMP COL9A3 COL9A2
3 endoplasmic reticulum lumen GO:0005788 9.76 PDIA4 MATN3 COL9A3 COL9A2 COL9A1 COL2A1
4 collagen trimer GO:0005581 9.73 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
5 collagen-containing extracellular matrix GO:0062023 9.65 MATN3 DCN COMP COL9A3 COL9A2 COL9A1
6 collagen type IX trimer GO:0005594 9.5 COL9A3 COL9A2 COL9A1
7 collagen type XI trimer GO:0005592 9.43 COL11A2 COL11A1
8 extracellular matrix GO:0031012 9.32 MATN3 DCN COMP COL9A3 COL9A2 COL9A1

Biological processes related to Multiple Epiphyseal Dysplasia according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 collagen fibril organization GO:0030199 9.77 COMP COL2A1 COL11A2 COL11A1 ACAN
2 cartilage condensation GO:0001502 9.73 SOX9 COL2A1 COL11A1 ACAN
3 ossification GO:0001503 9.73 SOX9 SLC26A2 PTH1R COMP COL2A1 COL11A1
4 chondrocyte differentiation GO:0002062 9.72 SOX9 PTH1R FGFR3 COL2A1 COL11A2
5 chondrocyte development GO:0002063 9.71 SOX9 COMP COL11A1 ACAN
6 extracellular matrix organization GO:0030198 9.7 SOX9 MATN3 DCN COMP COL9A3 COL9A2
7 skeletal system morphogenesis GO:0048705 9.69 COL2A1 COL11A2 COL11A1
8 bone mineralization GO:0030282 9.67 PTH1R FGFR3 COMP
9 tissue homeostasis GO:0001894 9.63 SOX9 COL2A1 COL11A2
10 cartilage development GO:0051216 9.63 SOX9 MATN3 COMP COL2A1 COL11A2 COL11A1
11 proteoglycan biosynthetic process GO:0030166 9.61 CANT1 ACAN
12 chondrocyte proliferation GO:0035988 9.6 FGFR3 COMP
13 limb bud formation GO:0060174 9.59 SOX9 COL2A1
14 notochord development GO:0030903 9.58 SOX9 COL2A1
15 endochondral bone growth GO:0003416 9.58 FGFR3 COMP
16 otic vesicle development GO:0071599 9.57 SOX9 COL2A1
17 proteoglycan metabolic process GO:0006029 9.56 COL2A1 COL11A1
18 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process GO:0050428 9.55 SLC26A2 PAPSS2
19 positive regulation of chondrocyte proliferation GO:1902732 9.54 SOX9 COMP
20 anterior head development GO:0097065 9.52 SOX9 COL2A1
21 tendon development GO:0035989 9.48 COMP COL11A1
22 skeletal system development GO:0001501 9.36 TRAPPC2 SOX9 PTH1R PAPSS2 MATN3 FGFR3

Molecular functions related to Multiple Epiphyseal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.43 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
2 extracellular matrix structural constituent GO:0005201 9.28 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
3 extracellular matrix structural constituent conferring compression resistance GO:0030021 9.26 DCN ACAN
4 proteoglycan binding GO:0043394 9.16 COMP COL2A1

Sources for Multiple Epiphyseal Dysplasia

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
Content
Loading form....