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EDM
MCID: MLT007
MIFTS: 55

Multiple Epiphyseal Dysplasia (EDM)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Multiple Epiphyseal Dysplasia

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MalaCards integrated aliases for Multiple Epiphyseal Dysplasia:

Name: Multiple Epiphyseal Dysplasia 12 20 43 58 36 29 54 6 15 70
Med 20 43 58
Epiphyseal Dysplasia, Multiple, 1 43 70
Epiphyseal Dysplasia, Multiple, 4 43 70
Epiphyseal Dysplasia, Multiple, 2 43 70
Epiphyseal Dysplasia, Multiple, 3 43 70
Epiphyseal Dysplasia, Multiple, 5 43 70
Polyepiphyseal Dysplasia 12 58
Edm 20 58
Multiple Epiphyseal Dysplasia, Autosomal Recessive 43
Multiple Epiphyseal Dysplasia, Autosomal Dominant 43
Epiphyseal Dysplasia, Fairbank Type 43
Epiphyseal Dysplasia, Ribbing Type 43
Dysplasia, Epiphyseal, Multiple 39
Epiphyseal Dysplasia, Multiple 20
Osteochondrodysplasias 70
Edm1 43
Edm4 43
Edm2 43
Edm3 43
Edm5 43
Rmed 43

Characteristics:

Orphanet epidemiological data:

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

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:12721
KEGG 36 H00476
ICD9CM 34 756.56
MeSH 44 D010009
SNOMED-CT 67 59708000
ICD10 via Orphanet 33 Q77.3
UMLS via Orphanet 71 C0026760
Orphanet 58 ORPHA251
UMLS 70 C0026760 C0029422 C1832998 more
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Summaries for Multiple Epiphyseal Dysplasia

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MedlinePlus Genetics : 43 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, 4 and epiphyseal dysplasia, multiple, 1, 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 Integrin Pathway and Phospholipase-C Pathway. The drugs Vaccines and Valproic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart, 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.

GARD : 20 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 : 73 Fairbank's disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form: 1... more...

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Related Diseases for Multiple Epiphyseal Dysplasia

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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 636)
# Related Disease Score Top Affiliating Genes
1 epiphyseal dysplasia, multiple, 4 33.1 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
2 epiphyseal dysplasia, multiple, 1 32.9 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
3 epiphyseal dysplasia, multiple, 6 32.9 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
4 epiphyseal dysplasia, multiple, 3 32.5 SLC26A2 PDZD11 MATN3 COL9A3 COL9A2 COL9A1
5 epiphyseal dysplasia, multiple, 5 32.4 SLC26A2 PDIA4 MATN3 LOC101928222 COMP COL9A3
6 epiphyseal dysplasia, multiple, 2 32.4 SLC26A2 PDZD11 MATN3 COMP COL9A3 COL9A2
7 multiple epiphyseal dysplasia, autosomal dominant 32.1 MATN3 COMP COL9A3 COL9A2 COL9A1
8 multiple epiphyseal dysplasia due to collagen 9 anomaly 32.0 SLC26A2 PDZD11 MATN3 COMP COL9A3 COL9A2
9 skeletal dysplasias 31.0 SLC26A2 MATN3 COMP COL2A1 COL11A2
10 legg-calve-perthes disease 31.0 SLC26A2 MATN3 COL2A1
11 achondrogenesis, type ib 30.8 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
12 atelosteogenesis 30.8 SLC26A2 COL9A3 COL9A2 COL9A1
13 back pain 30.7 COL9A3 COL9A2
14 diastrophic dysplasia 30.7 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
15 brachydactyly 30.6 WDR35 COMP COL2A1 ACAN
16 clubfoot 30.5 SLC26A2 COL9A1 COL2A1
17 arthropathy 30.5 COMP COL2A1 ACAN
18 chondromalacia 30.4 COMP ACAN
19 osteochondritis dissecans 30.4 MATN3 COMP COL9A3 COL9A2 COL9A1 ACAN
20 osteoarthritis 30.4 MATN3 COMP COL9A1 COL2A1 COL11A2 ACAN
21 achondroplasia 30.3 COMP COL2A1 ACAN
22 desbuquois dysplasia 30.3 SLC26A2 CANT1
23 scoliosis 30.3 DCN COMP COL2A1 CANT1 ACAN
24 osteochondrosis 30.3 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
25 cleft palate, isolated 30.2 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
26 tendinitis 30.0 DCN COMP
27 pseudoachondroplasia 30.0 SLC26A2 MATN3 DCN COMP COL9A3 COL9A2
28 spondylolisthesis 29.9 COL9A3 ACAN
29 intervertebral disc disease 29.7 COL9A3 COL9A2 COL11A1
30 epicondylitis 29.7 DCN ACAN
31 spondyloepiphyseal dysplasia congenita 29.7 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
32 myopia 29.6 DCN COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
33 achondrogenesis 29.5 SLC26A2 MATN3 DCN COMP COL9A3 COL9A2
34 orofacial cleft 29.4 COL9A1 COL2A1 COL11A2 COL11A1
35 spondyloepiphyseal dysplasia with congenital joint dislocations 29.4 SLC26A2 COMP COL9A3 COL9A2 COL9A1 COL2A1
36 spinal stenosis 29.1 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
37 odontochondrodysplasia 29.1 WDR35 SLC26A2 MATN3 DCN COMP COL9A3
38 al-gazali-bakalinova syndrome 11.8
39 epiphyseal dysplasia, multiple, with myopia and conductive deafness 11.8
40 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.7
41 epiphyseal dysplasia, multiple, 7 11.7
42 multiple epiphyseal dysplasia with robin phenotype 11.5
43 multiple epiphyseal dysplasia, recessive 11.3
44 multiple epiphyseal dysplasia and pseudoachondroplasia 11.2
45 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia 11.2
46 epiphyseal dysplasia, multiple, with miniepiphyses 11.2
47 lowry-wood syndrome 11.2
48 mucopolysaccharidosis, type iva 11.1
49 refsum disease, classic 11.1
50 primary mediastinal large b-cell lymphoma 11.0

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



Diseases related to Multiple Epiphyseal Dysplasia
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Symptoms & Phenotypes for Multiple Epiphyseal Dysplasia

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Human phenotypes related to Multiple Epiphyseal Dysplasia:

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

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 Decreased NANOG protein expression GR00184-A-3 9.56 COL11A1 KIF7 PDZD11
2 Decreased NANOG protein expression GR00184-A-6 9.56 COL11A1 KIF7 PDZD11
3 Decreased NANOG protein expression GR00184-A-8 9.56 COL11A1 PDZD11
4 Increased gamma-H2AX phosphorylation GR00053-A 9.23 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 COMP

MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.65 CANT1 COL11A1 COL2A1 COL9A1 COL9A2 COMP
2 hearing/vestibular/ear MP:0005377 9.63 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
3 skeleton MP:0005390 9.36 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COMP
Sources

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia

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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
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
3
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
4
Losartan Approved Phase 2 114798-26-4 3961
5 Psychotropic Drugs Phase 2
6 Anticonvulsants Phase 2
7 Neurotransmitter Agents Phase 2
8 Histone Deacetylase Inhibitors Phase 2
9 Giapreza Phase 2
10 Angiotensin II Type 1 Receptor Blockers Phase 2
11 Angiotensin Receptor Antagonists Phase 2
12 Angiotensinogen Phase 2
13 Antihypertensive Agents Phase 2
14 Anti-Arrhythmia Agents Phase 2
15 Anesthetics Phase 2
16 Pharmaceutical Solutions

Interventional clinical trials:

(show all 28)
# 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 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 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
5 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
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 Physical Activity, Motor Competence, Pulmonary Function, and Quality of Life in Children With Severe Spinal Disease Unknown status NCT03494829
9 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
10 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
11 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
12 Psychological Concomitants of Morquio Syndrome Completed NCT01752296
13 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). Completed NCT03139903
14 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Completed NCT03872713
15 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
16 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Completed NCT03150069
17 Gait Analysis in Patients With MPS IVA Treated With Enzyme Replacement Therapy Completed NCT01920828
18 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy Completed NCT02208661
19 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
20 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Recruiting NCT02294877 Vimizim® (elosulfase alfa)
21 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
22 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01457456
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 Active, not recruiting NCT03204370 Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]
24 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Enrolling by invitation NCT03548779
25 Identification and Characterization of Bone-related Genetic Variants in Families Terminated NCT02762318
26 A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Terminated NCT00787995
27 Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population Terminated NCT01675674
28 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa Withdrawn NCT02153255

Search NIH Clinical Center for Multiple Epiphyseal Dysplasia

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Genetic Tests for Multiple Epiphyseal Dysplasia

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Genetic tests related to Multiple Epiphyseal Dysplasia:

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

Anatomical Context for Multiple Epiphyseal Dysplasia

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MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia:

40
Bone, Bone Marrow, Heart
Sources

Publications for Multiple Epiphyseal Dysplasia

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Articles related to Multiple Epiphyseal Dysplasia:

(show top 50) (show all 416)
# Title Authors PMID Year
1
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. 6 61
28742282 2017
2
Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin. 61 54
20033473 2010
3
Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia. 61 54
18789631 2009
4
The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding. 61 54
19276170 2009
5
Ribozyme-mediated reduction of wild-type and mutant cartilage oligomeric matrix protein (COMP) mRNA and protein. 54 61
19237461 2009
6
Inverse association of general joint hypermobility with hand and knee osteoarthritis and serum cartilage oligomeric matrix protein levels. 54 61
19035482 2008
7
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 61 54
18708426 2008
8
The role of cartilage oligomeric matrix protein (COMP) in skeletal disease. 61 54
18855621 2008
9
Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia. 61 54
18546327 2008
10
Multiple functions of the von Willebrand Factor A domain in matrilins: secretion, assembly, and proteolysis. 54 61
18518980 2008
11
COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. 54 61
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. 61 54
18553123 2008
13
Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases. 61 54
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. 61 54
17517694 2007
15
Cartilage oligomeric matrix protein associates with granulin-epithelin precursor (GEP) and potentiates GEP-stimulated chondrocyte proliferation. 54 61
17307734 2007
16
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. 61 54
17133256 2007
17
Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes. 61 54
17200202 2007
18
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion. 54 61
16928687 2006
19
Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2). 54 61
16440132 2006
20
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 54 61
16642506 2006
21
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype. 54 61
16514635 2006
22
Insights from a transgenic mouse model on the role of SLC26A2 in health and disease. 61 54
17120769 2006
23
In vivo human Cartilage oligomeric matrix protein (COMP) promoter activity. 61 54
16214313 2005
24
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. 54 61
16287128 2005
25
Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not. 61 54
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. 54 61
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. 54 61
15756302 2005
28
Secretion of cartilage oligomeric matrix protein is affected by the signal peptide. 54 61
15749701 2005
29
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. 54 61
15703192 2005
30
Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation. 54 61
15633184 2005
31
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. 54 61
15503005 2005
32
COMP mutations, chondrocyte function and cartilage matrix. 61 54
15694129 2005
33
Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. 61 54
15551337 2005
34
Pathogenetics of the human SLC26 transporters. 61 54
15720248 2005
35
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. 61 54
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. 54 61
15337766 2004
37
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. 61 54
15266613 2004
38
Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate. 54 61
15183431 2004
39
Matrilin-3 is dispensable for mouse skeletal growth and development. 61 54
14749384 2004
40
Transcription influences the types of deletion and expansion products in an orientation-dependent manner from GAC*GTC repeats. 54 61
15317871 2004
41
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 61 54
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. 54 61
14684695 2003
43
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 54 61
12966518 2003
44
Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 54 61
12884427 2003
45
In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias. 54 61
14692227 2003
46
Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein affects its early vesicle trafficking in endoplasmic reticulum and induces apoptosis. 54 61
12819015 2003
47
Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia. 54 61
12792737 2003
48
Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. 54 61
12768438 2003
49
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 54 61
12525546 2003
50
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. 61 54
12483304 2003
Sources

Variations for Multiple Epiphyseal Dysplasia

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ClinVar genetic disease variations for Multiple Epiphyseal Dysplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL2A1 NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp) SNV Likely pathogenic 374114 rs1057518908 GRCh37: 12:48377895-48377895
GRCh38: 12:47984112-47984112
2 CANT1 NM_001159773.2(CANT1):c.511A>T (p.Ile171Phe) SNV Likely pathogenic 441248 rs1014317450 GRCh37: 17:76993194-76993194
GRCh38: 17:78997112-78997112

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
Sources

Expression for Multiple Epiphyseal Dysplasia

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

Pathways for Multiple Epiphyseal Dysplasia

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Integrin Pathway 63
Show member pathways
 13.18 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
2
Phospholipase-C Pathway 63
Show member pathways
 12.84 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
3
PI3K-Akt signaling pathway 36
Show member pathways
 12.74 COMP COL9A3 COL9A2 COL9A1 COL2A1
4
Focal Adhesion 36 1
Show member pathways
 12.68 COMP COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
5
Collagen chain trimerization 65
Show member pathways
 12.64 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
6
Degradation of the extracellular matrix 65
Show member pathways
 12.31 MATN3 DCN COMP COL9A3 COL9A2 COL9A1
7
Diseases of glycosylation 65
Show member pathways
 11.86 DCN ADAMTSL1 ACAN
8
ECM-receptor interaction 36
Show member pathways
 11.85 COMP COL9A3 COL9A2 COL9A1 COL2A1
9
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.63 DCN COL2A1 ACAN
10
NCAM1 interactions 65
11.2 COL9A3 COL9A2 COL9A1
11
Articular Cartilage Extracellular Matrix Pathway 64
11.01 DCN COMP COL2A1 ACAN
12
ECM proteoglycans 65
10.92 MATN3 DCN COMP COL9A3 COL9A2 COL9A1
13
G-protein signaling_Rap2B regulation pathway 23
10.77 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
Sources

GO Terms for Multiple Epiphyseal Dysplasia

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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 10.18 PDZD11 MATN3 DCN COMP COL9A3 COL9A2
2 extracellular space GO:0005615 10.11 PDIA4 DCN COMP COL9A3 COL9A2 COL9A1
3 endoplasmic reticulum lumen GO:0005788 9.81 PDIA4 MATN3 COL9A3 COL9A2 COL9A1 COL2A1
4 collagen trimer GO:0005581 9.73 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
5 basement membrane GO:0005604 9.71 COL9A3 COL9A1 COL2A1 ACAN
6 collagen-containing extracellular matrix GO:0062023 9.65 MATN3 DCN COMP COL9A3 COL9A2 COL9A1
7 collagen type IX trimer GO:0005594 9.5 COL9A3 COL9A2 COL9A1
8 collagen type XI trimer GO:0005592 9.43 COL11A2 COL11A1
9 extracellular matrix GO:0031012 9.36 MATN3 DCN COMP COL9A3 COL9A2 COL9A1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.71 SLC26A2 COMP COL2A1 COL11A1
2 sensory perception of sound GO:0007605 9.7 COL2A1 COL11A2 COL11A1
3 cartilage development GO:0051216 9.65 MATN3 COMP COL2A1 COL11A2 COL11A1
4 skeletal system development GO:0001501 9.63 MATN3 COMP COL9A2 COL2A1 COL11A2 ACAN
5 skeletal system morphogenesis GO:0048705 9.61 COL2A1 COL11A2 COL11A1
6 cartilage condensation GO:0001502 9.54 COL2A1 COL11A1 ACAN
7 proteoglycan biosynthetic process GO:0030166 9.51 CANT1 ACAN
8 chondrocyte development GO:0002063 9.5 COMP COL11A1 ACAN
9 tissue homeostasis GO:0001894 9.49 COL2A1 COL11A2
10 proteoglycan metabolic process GO:0006029 9.48 COL2A1 COL11A1
11 tendon development GO:0035989 9.46 COMP COL11A1
12 extracellular matrix organization GO:0030198 9.36 MATN3 DCN COMP COL9A3 COL9A2 COL9A1
13 collagen fibril organization GO:0030199 9.35 COMP COL2A1 COL11A2 COL11A1 ACAN

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

Sources for Multiple Epiphyseal Dysplasia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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