EDM
MCID: MLT007
MIFTS: 57

Multiple Epiphyseal Dysplasia (EDM)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Multiple Epiphyseal Dysplasia

MalaCards integrated aliases for Multiple Epiphyseal Dysplasia:

Name: Multiple Epiphyseal Dysplasia 11 19 42 58 28 53 5 14 71 75
Med 19 42 58
Epiphyseal Dysplasia, Multiple, 1 42 71
Epiphyseal Dysplasia, Multiple, 4 42 71
Epiphyseal Dysplasia, Multiple, 2 42 71
Epiphyseal Dysplasia, Multiple, 3 42 71
Epiphyseal Dysplasia, Multiple, 5 42 71
Polyepiphyseal Dysplasia 11 58
Edm 19 58
Multiple Epiphyseal Dysplasia, Autosomal Recessive 42
Multiple Epiphyseal Dysplasia, Autosomal Dominant 42
Epiphyseal Dysplasia, Fairbank Type 42
Epiphyseal Dysplasia, Ribbing Type 42
Dysplasia, Epiphyseal, Multiple 38
Epiphyseal Dysplasia, Multiple 19
Osteochondrodysplasias 71
Edm1 42
Edm4 42
Edm2 42
Edm3 42
Edm5 42
Rmed 42

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

1-9/100000 (Europe) 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:12721
ICD9CM 34 756.56
MeSH 43 D010009
SNOMED-CT 68 59708000
ICD10 via Orphanet 32 Q77.3
UMLS via Orphanet 72 C0026760
Orphanet 58 ORPHA251
UMLS 71 C0026760 C0029422 C1832998 more

Summaries for Multiple Epiphyseal Dysplasia

MedlinePlus Genetics: 42 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 epiphyseal dysplasia, multiple, 3 and epiphyseal dysplasia, multiple, 4, and has symptoms including hip pain, knee pain and arthralgia. An important gene associated with Multiple Epiphyseal Dysplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Angiotensin II and Losartan have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and brain, and related phenotypes are Increased gamma-H2AX phosphorylation and Decreased NANOG protein expression

GARD: 19 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. 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 genetic changes in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 genes (or can be of unknown cause), and recessive MED is caused by genetic changes in the SLC26A2 gene.

Orphanet: 58 A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features.

Disease Ontology: 11 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.

Wikipedia: 75 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 800)
# Related Disease Score Top Affiliating Genes
1 epiphyseal dysplasia, multiple, 3 33.2 PDZD11 COL9A3
2 epiphyseal dysplasia, multiple, 4 33.1 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
3 epiphyseal dysplasia, multiple, 1 33.0 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
4 epiphyseal dysplasia, multiple, 6 32.8 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
5 epiphyseal dysplasia, multiple, 5 32.6 SLC26A2 PDIA4 MATN3 CRELD2 COMP COL9A3
6 epiphyseal dysplasia, multiple, 2 32.6 SLC26A2 PDZD11 MATN3 COL9A3 COL9A2 COL9A1
7 multiple epiphyseal dysplasia due to collagen 9 anomaly 32.4 SLC26A2 PDZD11 MATN3 COMP COL9A3 COL9A2
8 cartilage disease 31.0 COMP COL2A1 COL10A1 ACAN
9 achondrogenesis, type ib 30.9 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
10 arthropathy 30.8 COMP COL2A1 ACAN
11 atelosteogenesis 30.7 SLC26A2 COL9A3 COL9A2 COL9A1
12 brachydactyly 30.7 SLC26A2 COMP COL2A1 ACAN
13 diastrophic dysplasia 30.7 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
14 pseudoachondroplasia 30.4 THBS3 SLC26A2 MATN3 COMP COL9A3 COL9A2
15 osteochondrosis 30.4 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
16 achondroplasia 30.3 COMP COL2A1 ACAN
17 osteochondritis dissecans 30.3 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
18 desbuquois dysplasia 30.3 SLC26A2 CANT1
19 chondromalacia 30.3 COMP COL2A1 ACAN
20 cleft palate, isolated 30.3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
21 coxa vara 30.2 COL2A1 COL10A1
22 intervertebral disc disease 30.2 COL9A3 COL9A2 COL11A1
23 scoliosis 30.2 KIF7 COMP COL2A1 COL10A1 CANT1 ACAN
24 spondylolisthesis 30.1 COL9A3 COL9A2 ACAN
25 osteoarthritis 30.1 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
26 spondyloepiphyseal dysplasia with congenital joint dislocations 30.1 SLC26A2 COMP COL9A3 COL9A2 COL9A1 COL2A1
27 hypochondroplasia 30.1 COL2A1 COL10A1 ACAN
28 myopia 30.0 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1 ACAN
29 retinal detachment 29.9 COL9A3 COL9A2 COL9A1 COL2A1 COL11A1
30 isolated growth hormone deficiency, type ia 29.9 COMP COL2A1 ACAN
31 bone disease 29.8 MATN3 COMP COL2A1 COL10A1 ACAN
32 tendinitis 29.7 COMP ACAN
33 sensorineural hearing loss 29.7 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
34 refractive error 29.5 COL9A1 COL2A1 COL11A2 COL11A1
35 spinal stenosis 29.4 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
36 achondrogenesis 29.4 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
37 osteochondrodysplasia 29.4 SLC26A2 PDZD11 MATN3 EIF2AK3 COMP COL9A3
38 orofacial cleft 29.2 SLC26A2 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
39 spondyloepiphyseal dysplasia congenita 29.1 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
40 al-gazali-bakalinova syndrome 11.9
41 epiphyseal dysplasia, multiple, with myopia and conductive deafness 11.8
42 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.7
43 epiphyseal dysplasia, multiple, 7 11.7
44 multiple epiphyseal dysplasia with robin phenotype 11.6
45 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia 11.5
46 epiphyseal dysplasia, multiple, with miniepiphyses 11.5
47 multiple epiphyseal dysplasia and pseudoachondroplasia 11.4
48 multiple epiphyseal dysplasia, autosomal dominant 11.3
49 multiple epiphyseal dysplasia, recessive 11.3
50 lowry-wood syndrome 11.2

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



Diseases related to Multiple Epiphyseal Dysplasia

Symptoms & Phenotypes for Multiple Epiphyseal Dysplasia

UMLS symptoms related to Multiple Epiphyseal Dysplasia:


hip pain; knee pain; arthralgia

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.56 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 COMP
2 Decreased NANOG protein expression GR00184-A-3 9.53 COL11A1 KIF7 PDZD11
3 Decreased NANOG protein expression GR00184-A-6 9.53 COL11A1 KIF7 PDZD11
4 Decreased NANOG protein expression GR00184-A-8 9.53 COL11A1 PDZD11

MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 10.18 ACAN CANT1 COL10A1 COL11A1 COL2A1 COL9A1
2 homeostasis/metabolism MP:0005376 10.13 ACAN CANT1 COL11A2 COL2A1 COL9A1 COL9A2
3 growth/size/body region MP:0005378 9.97 ACAN CANT1 COL10A1 COL11A1 COL11A2 COL2A1
4 hearing/vestibular/ear MP:0005377 9.8 ACAN COL11A1 COL11A2 COL2A1 COL9A1 COL9A2
5 craniofacial MP:0005382 9.5 ACAN COL10A1 COL11A1 COL11A2 COL2A1 KIF7
6 skeleton MP:0005390 9.47 ACAN CANT1 COL10A1 COL11A1 COL11A2 COL2A1

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
2
Losartan Approved Phase 2 114798-26-4 3961
3
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
4
Angiotensinogen Phase 2 16133225
5 Angiotensin Receptor Antagonists Phase 2
6 Angiotensin II Type 1 Receptor Blockers Phase 2
7 Giapreza Phase 2
8 Antihypertensive Agents Phase 2
9 Anti-Arrhythmia Agents Phase 2
10 Anticonvulsants Phase 2
11 Psychotropic Drugs Phase 2
12 Histone Deacetylase Inhibitors Phase 2
13 Neurotransmitter Agents Phase 2
14 Anesthetics Phase 2
15 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 Unknown status NCT02383797 Phase 4
2 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
3 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
4 A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI Unknown status NCT03632213 Phase 2 Losartan;Placebo
5 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
6 Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome : a Randomized Controlled Trial Not yet recruiting NCT04465188 Phase 2
7 Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation: A Phase I Study Completed NCT00186914 Phase 1
8 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
9 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
10 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Completed NCT03872713
11 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
12 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy Completed NCT02208661
13 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
14 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
15 Gait Analysis in Patients With MPS IVA Treated With Enzyme Replacement Therapy Completed NCT01920828
16 Psychological Concomitants of Morquio Syndrome Completed NCT01752296
17 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Completed NCT03150069
18 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). Completed NCT03139903
19 Double Osteotomy for Deformity Correction In Pyle Disease: Comparative Study Recruiting NCT05046977
20 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
21 Structured Collection of Data Relating to Rare Diseases With Predominantly Skeletal Involvement Recruiting NCT05247645
22 Non-invasive Functional Assessment and Pathogenesis of Morquio A (NIFAMA) Recruiting NCT05284006
23 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01457456
24 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Active, not recruiting NCT03548779
25 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 Active, not recruiting NCT03204370 Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]
26 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Active, not recruiting NCT02294877 Vimizim® (elosulfase alfa)
27 Physical Activity, Motor Competence, Pulmonary Function, and Quality of Life in Children With Severe Spinal Disease Enrolling by invitation NCT03494829
28 ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program Enrolling by invitation NCT05368038
29 A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Terminated NCT00787995
30 Identification and Characterization of Bone-related Genetic Variants in Families Terminated NCT02762318
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

Genetic Tests for Multiple Epiphyseal Dysplasia

Genetic tests related to Multiple Epiphyseal Dysplasia:

# Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 28

Anatomical Context for Multiple Epiphyseal Dysplasia

Organs/tissues related to Multiple Epiphyseal Dysplasia:

MalaCards : Bone, Bone Marrow, Brain, Spinal Cord, Thyroid, Ovary, Prostate

Publications for Multiple Epiphyseal Dysplasia

Articles related to Multiple Epiphyseal Dysplasia:

(show top 50) (show all 547)
# Title Authors PMID Year
1
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. 62 5
28742282 2017
2
Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin. 53 62
20033473 2010
3
Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia. 53 62
18789631 2009
4
The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding. 53 62
19276170 2009
5
Ribozyme-mediated reduction of wild-type and mutant cartilage oligomeric matrix protein (COMP) mRNA and protein. 53 62
19237461 2009
6
Inverse association of general joint hypermobility with hand and knee osteoarthritis and serum cartilage oligomeric matrix protein levels. 53 62
19035482 2008
7
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 53 62
18708426 2008
8
The role of cartilage oligomeric matrix protein (COMP) in skeletal disease. 53 62
18855621 2008
9
Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia. 53 62
18546327 2008
10
Multiple functions of the von Willebrand Factor A domain in matrilins: secretion, assembly, and proteolysis. 53 62
18518980 2008
11
COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. 53 62
17570134 2008
12
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. 53 62
18553123 2008
13
Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases. 53 62
17881354 2007
14
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. 53 62
17517694 2007
15
Cartilage oligomeric matrix protein associates with granulin-epithelin precursor (GEP) and potentiates GEP-stimulated chondrocyte proliferation. 53 62
17307734 2007
16
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. 53 62
17133256 2007
17
Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes. 53 62
17200202 2007
18
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion. 53 62
16928687 2006
19
Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2). 53 62
16440132 2006
20
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 53 62
16642506 2006
21
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype. 53 62
16514635 2006
22
Insights from a transgenic mouse model on the role of SLC26A2 in health and disease. 53 62
17120769 2006
23
In vivo human Cartilage oligomeric matrix protein (COMP) promoter activity. 53 62
16214313 2005
24
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. 53 62
16287128 2005
25
Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not. 53 62
16199550 2005
26
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. 53 62
15880723 2005
27
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. 53 62
15756302 2005
28
Secretion of cartilage oligomeric matrix protein is affected by the signal peptide. 53 62
15749701 2005
29
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. 53 62
15703192 2005
30
Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation. 53 62
15633184 2005
31
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. 53 62
15503005 2005
32
COMP mutations, chondrocyte function and cartilage matrix. 53 62
15694129 2005
33
Pathogenetics of the human SLC26 transporters. 53 62
15720248 2005
34
Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. 53 62
15551337 2005
35
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. 53 62
15459972 2004
36
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. 53 62
15337766 2004
37
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. 53 62
15266613 2004
38
Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate. 53 62
15183431 2004
39
Matrilin-3 is dispensable for mouse skeletal growth and development. 53 62
14749384 2004
40
Transcription influences the types of deletion and expansion products in an orientation-dependent manner from GAC*GTC repeats. 53 62
15317871 2004
41
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 53 62
14729835 2004
42
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. 53 62
14684695 2003
43
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 53 62
12966518 2003
44
Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 53 62
12884427 2003
45
Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia. 53 62
12792737 2003
46
In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias. 53 62
14692227 2003
47
Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein affects its early vesicle trafficking in endoplasmic reticulum and induces apoptosis. 53 62
12819015 2003
48
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 53 62
12525546 2003
49
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. 53 62
12483304 2003
50
Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. 53 62
12768438 2003

Variations for Multiple Epiphyseal Dysplasia

ClinVar genetic disease variations for Multiple Epiphyseal Dysplasia:

5 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COMP NM_000095.3(COMP):c.1501G>A (p.Gly501Ser) SNV Likely Pathogenic
1327423 GRCh37: 19:18896650-18896650
GRCh38: 19:18785840-18785840
2 COL2A1 NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp) SNV Likely Pathogenic
374114 rs1057518908 GRCh37: 12:48377895-48377895
GRCh38: 12:47984112-47984112
3 CANT1 NM_001159773.2(CANT1):c.511A>T (p.Ile171Phe) SNV Likely Pathogenic
441248 rs1014317450 GRCh37: 17:76993194-76993194
GRCh38: 17:78997112-78997112
4 MATN3 NM_002381.5(MATN3):c.581T>A (p.Val194Asp) SNV Not Provided
7540 rs104893645 GRCh37: 2:20205714-20205714
GRCh38: 2:20005953-20005953
5 MATN3 NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) SNV Not Provided
7541 rs104893637 GRCh37: 2:20205934-20205934
GRCh38: 2:20006173-20006173
6 MATN3 NM_002381.5(MATN3):c.656C>A (p.Ala219Asp) SNV Not Provided
7543 rs28939677 GRCh37: 2:20205639-20205639
GRCh38: 2:20005878-20005878
7 MATN3 NM_002381.5(MATN3):c.209G>A (p.Arg70His) SNV Not Provided
7545 rs104893640 GRCh37: 2:20212184-20212184
GRCh38: 2:20012423-20012423
8 COMP NM_000095.3(COMP):c.1569C>G (p.Asn523Lys) SNV Not Provided
9189 rs137852654 GRCh37: 19:18896582-18896582
GRCh38: 19:18785772-18785772
9 COMP NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup) MICROSAT Not Provided
9193 rs193922900 GRCh37: 19:18896844-18896845
GRCh38: 19:18786034-18786035
10 COMP NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) SNV Not Provided
9198 rs28936368 GRCh37: 19:18893939-18893939
GRCh38: 19:18783129-18783129
11 COMP NM_000095.3(COMP):c.1754C>G (p.Thr585Arg) SNV Not Provided
Not Provided
40994 rs312262900 GRCh37: 19:18895866-18895866
GRCh38: 19:18785056-18785056
12 COMP NM_000095.3(COMP):c.1156_1158del (p.Asn386del) DEL Not Provided
65553 rs397515510 GRCh37: 19:18897438-18897440
GRCh38: 19:18786628-18786630
13 COMP NM_000095.3(COMP):c.1665C>A (p.Asn555Lys) SNV Not Provided
65554 rs397515511 GRCh37: 19:18896486-18896486
GRCh38: 19:18785676-18785676
14 COMP NM_000095.3(COMP):c.1813G>A (p.Asp605Asn) SNV Not Provided
65555 rs397515512 GRCh37: 19:18895807-18895807
GRCh38: 19:18784997-18784997
15 COMP NM_000095.3(COMP):c.2042C>G (p.Ser681Cys) SNV Not Provided
65556 rs397515513 GRCh37: 19:18895046-18895046
GRCh38: 19:18784236-18784236
16 COMP NM_000095.3(COMP):c.2153G>C (p.Arg718Pro) SNV Not Provided
65557 rs149551600 GRCh37: 19:18893938-18893938
GRCh38: 19:18783128-18783128
17 MATN3 NM_002381.5(MATN3):c.359C>T (p.Thr120Met) SNV Not Provided
65664 rs397515546 GRCh37: 2:20205936-20205936
GRCh38: 2:20006175-20006175
18 MATN3 NM_002381.5(MATN3):c.518C>A (p.Ala173Asp) SNV Not Provided
195171 rs779413744 GRCh37: 2:20205777-20205777
GRCh38: 2:20006016-20006016
19 MATN3 NM_002381.5(MATN3):c.659T>C (p.Val220Ala) SNV Not Provided
801652 rs187943382 GRCh37: 2:20205636-20205636
GRCh38: 2:20005875-20005875
20 COMP NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) SNV Not Provided
988351 rs1601054715 GRCh37: 19:18897443-18897443
GRCh38: 19:18786633-18786633
21 MATN3 NM_002381.5(MATN3):c.626G>C (p.Arg209Pro) SNV Not Provided
1011244 rs749845872 GRCh37: 2:20205669-20205669
GRCh38: 2:20005908-20005908
22 MATN3 NM_002381.5(MATN3):c.513_530del (p.Asp171_Val176del) DEL Not Provided
1675211 GRCh37: 2:20205765-20205782
GRCh38: 2:20006004-20006021
23 MATN3 NM_002381.5(MATN3):c.575T>A (p.Ile192Asn) SNV Not Provided
1675212 GRCh37: 2:20205720-20205720
GRCh38: 2:20005959-20005959
24 COMP NM_000095.3(COMP):c.500G>A (p.Gly167Glu) SNV Not Provided
1675208 GRCh37: 19:18899997-18899997
GRCh38: 19:18789188-18789188
25 MATN3 NM_002381.5(MATN3):c.400G>A (p.Glu134Lys) SNV Not Provided
1675209 GRCh37: 2:20205895-20205895
GRCh38: 2:20006134-20006134
26 MATN3 NM_002381.5(MATN3):c.437T>G (p.Leu146Arg) SNV Not Provided
1675210 GRCh37: 2:20205858-20205858
GRCh38: 2:20006097-20006097
27 COMP NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del) DEL Not Provided
1675213 GRCh37: 19:18898331-18898336
GRCh38: 19:18787522-18787527
28 MATN3 NM_002381.5(MATN3):c.584C>A (p.Thr195Lys) SNV Not Provided
1675214 GRCh37: 2:20205711-20205711
GRCh38: 2:20005950-20005950
29 MATN3 NM_002381.5(MATN3):c.652T>A (p.Tyr218Asn) SNV Not Provided
1675215 GRCh37: 2:20205643-20205643
GRCh38: 2:20005882-20005882
30 MATN3 NM_002381.5(MATN3):c.693G>C (p.Lys231Asn) SNV Not Provided
1675216 GRCh37: 2:20205602-20205602
GRCh38: 2:20005841-20005841

Copy number variations for Multiple Epiphyseal Dysplasia from CNVD:

6 (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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.64 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
2 13.59 THBS3 KIF7 COL9A3 COL9A2 COL9A1 COL2A1
3
Show member pathways
13.25 ACAN COL10A1 COL11A1 COL11A2 COL2A1 COL9A1
4
Show member pathways
12.87 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
5
Show member pathways
12.73 THBS3 COMP COL9A3 COL9A2 COL9A1 COL2A1
6 12.69 THBS3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
7
Show member pathways
12.65 COL10A1 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2
8
Show member pathways
12.05 COL2A1 COL11A2 COL11A1 COL10A1
9
Show member pathways
11.97 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
10
Show member pathways
11.83 COL2A1 COL10A1 ACAN
11
Show member pathways
11.78 COL9A3 COL9A2 COL9A1 COL2A1
12
Show member pathways
11.78 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
13
Show member pathways
11.59 THBS3 COL9A3 COL9A2 COL9A1 COL2A1
14 11.47 COL2A1 COL11A2 COL11A1
15 11.23 COMP COL2A1 ACAN
16 11.13 COL2A1 COL11A2 COL11A1
17 10.8 SLC26A2 CANT1
18 10.66 ACAN COL10A1 COL11A1 COL11A2 COL2A1 COL9A1

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 10.55 ACAN ADAMTSL1 CANT1 COL10A1 COL11A1 COL11A2
2 extracellular space GO:0005615 10.46 PDIA4 CRELD2 COMP COL9A3 COL9A2 COL9A1
3 endoplasmic reticulum lumen GO:0005788 10.16 PDIA4 MATN3 COL9A3 COL9A2 COL9A1 COL2A1
4 basement membrane GO:0005604 9.98 ACAN COL2A1 COL9A1 COL9A3
5 collagen trimer GO:0005581 9.96 COL10A1 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2
6 extracellular matrix GO:0031012 9.96 ACAN COL10A1 COL11A1 COL11A2 COL2A1 COL9A1
7 collagen type XI trimer GO:0005592 9.85 COL2A1 COL11A2 COL11A1
8 collagen type IX trimer GO:0005594 9.8 COL9A3 COL9A2 COL9A1
9 collagen-containing extracellular matrix GO:0062023 9.66 THBS3 MATN3 COMP COL9A3 COL9A2 COL9A1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.97 SLC26A2 EIF2AK3 COMP COL2A1 COL11A1
2 cartilage development GO:0051216 9.92 MATN3 COMP COL2A1 COL11A2 COL11A1
3 collagen fibril organization GO:0030199 9.91 ACAN COL11A1 COL11A2 COL2A1 COMP
4 skeletal system development GO:0001501 9.86 ACAN COL10A1 COL11A2 COL2A1 COL9A2 COMP
5 proteoglycan metabolic process GO:0006029 9.8 COL2A1 COL11A1
6 cartilage condensation GO:0001502 9.8 COL2A1 COL11A1 ACAN
7 growth plate cartilage development GO:0003417 9.78 THBS3 COMP
8 tendon development GO:0035989 9.73 COMP COL11A1
9 chondrocyte development GO:0002063 9.7 EIF2AK3 COMP COL11A1 ACAN
10 skeletal system morphogenesis GO:0048705 9.63 COL2A1 COL11A2 COL11A1
11 extracellular matrix organization GO:0030198 9.58 MATN3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2

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 9.8 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
2 extracellular matrix structural constituent GO:0005201 9.66 THBS3 MATN3 COMP COL9A3 COL9A2 COL9A1
3 proteoglycan binding GO:0043394 9.46 COMP COL2A1

Sources for Multiple Epiphyseal Dysplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....