MCID: MLT142
MIFTS: 24

Multiple Epiphyseal Dysplasia, Autosomal Dominant

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

Aliases & Classifications for Multiple Epiphyseal Dysplasia, Autosomal Dominant

MalaCards integrated aliases for Multiple Epiphyseal Dysplasia, Autosomal Dominant:

Name: Multiple Epiphyseal Dysplasia, Autosomal Dominant 24

Characteristics:

GeneReviews:

24
Penetrance There is some evidence for reduced penetrance in med caused by matn3 pathogenic variants [mortier et al 2001, mäkitie et al 2004] while pathogenic variants in comp and the type ix collagen genes are believed to be fully penetrant.

Classifications:



Summaries for Multiple Epiphyseal Dysplasia, Autosomal Dominant

MalaCards based summary : Multiple Epiphyseal Dysplasia, Autosomal Dominant is related to multiple epiphyseal dysplasia and epiphyseal dysplasia, multiple, 2. An important gene associated with Multiple Epiphyseal Dysplasia, Autosomal Dominant is COL9A1 (Collagen Type IX Alpha 1 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. Affiliated tissues include bone, and related phenotypes are Increased gamma-H2AX phosphorylation and limbs/digits/tail

GeneReviews: NBK1123

Related Diseases for Multiple Epiphyseal Dysplasia, Autosomal Dominant

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, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 30.1 MATN3 COMP COL9A3 COL9A2 COL9A1
2 epiphyseal dysplasia, multiple, 2 28.2 COMP COL9A3 COL9A2 COL9A1
3 epiphyseal dysplasia, multiple, 3 28.1 MATN3 COMP COL9A3 COL9A2
4 epiphyseal dysplasia, multiple, 5 28.1 MATN3 COMP COL9A3 COL9A2
5 epiphyseal dysplasia, multiple, 1 27.5 MATN3 COMP COL9A3 COL9A2 COL9A1
6 epiphyseal dysplasia, multiple, 6 10.1
7 chronic pain 10.1
8 intervertebral disc disease 9.7 COL9A3 COL9A2
9 bone deterioration disease 9.6 COL9A3 COL9A2
10 skeletal dysplasias 9.5 MATN3 COMP
11 metaphyseal chondrodysplasia, schmid type 9.5 MATN3 COMP
12 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.5 COL9A3 COL9A2 COL9A1
13 autosomal recessive stickler syndrome 9.4 COL9A3 COL9A2 COL9A1
14 stickler syndrome 9.4 COL9A3 COL9A2 COL9A1
15 spinal stenosis 9.4 COL9A3 COL9A2 COL9A1
16 bone structure disease 9.4 COL9A3 COL9A2
17 osteoarthritis 9.1 MATN3 COMP COL9A1
18 bone development disease 9.1 MATN3 COMP COL9A2
19 epiphyseal dysplasia, multiple, 4 9.0 MATN3 COL9A3 COL9A2 COL9A1
20 osteochondritis dissecans 8.3 MATN3 COMP COL9A3 COL9A2 COL9A1
21 pseudoachondroplasia 8.3 MATN3 COMP COL9A3 COL9A2 COL9A1

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



Diseases related to Multiple Epiphyseal Dysplasia, Autosomal Dominant

Symptoms & Phenotypes for Multiple Epiphyseal Dysplasia, Autosomal Dominant

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 8.92 COL9A1 COL9A2 COL9A3 COMP

MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.26 COL9A1 COL9A2 COMP MATN3
2 skeleton MP:0005390 8.92 COL9A1 COL9A2 COMP MATN3

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Multiple Epiphyseal Dysplasia, Autosomal Dominant

Genetic Tests for Multiple Epiphyseal Dysplasia, Autosomal Dominant

Anatomical Context for Multiple Epiphyseal Dysplasia, Autosomal Dominant

MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia, Autosomal Dominant:

41
Bone

Publications for Multiple Epiphyseal Dysplasia, Autosomal Dominant

Articles related to Multiple Epiphyseal Dysplasia, Autosomal Dominant:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Nosology and classification of genetic skeletal disorders: 2015 revision. 4
26394607 2015
2
New therapeutic targets in rare genetic skeletal diseases. 4
26635999 2015
3
Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia. 4
26428751 2015
4
Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias. 4
24595329 2014
5
A haplotype of MATN3 is associated with vertebral fracture in Chinese postmenopausal women: Peking Vertebral Fracture (PK-VF) study. 4
22270056 2012
6
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 4
21922596 2012
7
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. 4
22006726 2012
8
MATN3 gene polymorphism is associated with osteoarthritis in Chinese Han population: a community-based case-control study. 4
22973175 2012
9
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. 4
21965141 2011
10
Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation. 4
21442341 2011
11
An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia. 4
20428984 2010
12
Structural and functional investigations of Matrilin-1 A-domains reveal insights into their role in cartilage ECM assembly. 4
20729554 2010
13
A matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrils. 4
20077500 2010
14
Skeletal dysplasias associated with mild myopathy-a clinical and molecular review. 4
20508815 2010
15
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia. 4
19808781 2010
16
An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype. 4
19762713 2009
17
Genetic mouse models for the functional analysis of the perifibrillar components collagen IX, COMP and matrilin-3: Implications for growth cartilage differentiation and endochondral ossification. 4
19554514 2009
18
Ablation of collagen IX and COMP disrupts epiphyseal cartilage architecture. 4
18191556 2008
19
Transgenic mice expressing D469Delta mutated cartilage oligomeric matrix protein (COMP) show growth plate abnormalities and sternal malformations. 4
17889519 2008
20
Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3. 4
18205203 2008
21
Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases. 4
17881354 2007
22
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP. 4
17588960 2007
23
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. 4
17517694 2007
24
A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family. 4
17394019 2007
25
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. 4
17133256 2007
26
MATN3 (matrilin-3) sequence variation (pT303M) is a risk factor for osteoarthritis of the CMC1 joint of the hand, but not for knee osteoarthritis. 4
17242023 2007
27
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion. 4
16928687 2006
28
Association of matrilin-3 polymorphisms with spinal disc degeneration and osteoarthritis of the first carpometacarpal joint of the hand. 4
16396979 2006
29
Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population. 4
16691584 2006
30
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. 4
16287128 2005
31
Altered integration of matrilin-3 into cartilage extracellular matrix in the absence of collagen IX. 4
16287859 2005
32
Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not. 4
16199550 2005
33
Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia. 4
15948199 2005
34
Type II collagen gene variants and inherited osteonecrosis of the femoral head. 4
15930420 2005
35
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. 4
15880723 2005
36
The matrilins--adaptor proteins in the extracellular matrix. 4
15943978 2005
37
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. 4
15756302 2005
38
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. 4
15523498 2005
39
Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. 4
15551337 2005
40
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. 4
15459972 2004
41
Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias. 4
15075323 2004
42
Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. 4
15121775 2004
43
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. 4
14994237 2004
44
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 4
14729835 2004
45
Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP). 4
14580238 2004
46
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. 4
14684695 2003
47
Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 4
12884427 2003
48
Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3. 4
12736871 2003
49
Matrix-matrix interaction of cartilage oligomeric matrix protein and fibronectin. 4
12225811 2002
50
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. 4
11968079 2002

Variations for Multiple Epiphyseal Dysplasia, Autosomal Dominant

Expression for Multiple Epiphyseal Dysplasia, Autosomal Dominant

Search GEO for disease gene expression data for Multiple Epiphyseal Dysplasia, Autosomal Dominant.

Pathways for Multiple Epiphyseal Dysplasia, Autosomal Dominant

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 COL9A3 COL9A2 COL9A1
2
Show member pathways
12.5 COMP COL9A3 COL9A2 COL9A1
3
Show member pathways
12.39 COMP COL9A3 COL9A2 COL9A1
4
Show member pathways
12.33 COL9A3 COL9A2 COL9A1
5
Show member pathways
12.01 MATN3 COMP COL9A3 COL9A2 COL9A1
6
Show member pathways
11.76 COL9A3 COL9A2 COL9A1
7
Show member pathways
11.65 COMP COL9A3 COL9A2 COL9A1
8 11 COL9A3 COL9A2 COL9A1
9 10.92 COL9A3 COL9A1
10 10.78 MATN3 COMP COL9A3 COL9A2 COL9A1
11 10.54 COL9A3 COL9A2 COL9A1

GO Terms for Multiple Epiphyseal Dysplasia, Autosomal Dominant

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.77 MATN3 COMP COL9A3 COL9A2 COL9A1
2 extracellular space GO:0005615 9.72 MATN3 COMP COL9A3 COL9A2 COL9A1
3 endoplasmic reticulum lumen GO:0005788 9.46 MATN3 COL9A3 COL9A2 COL9A1
4 collagen trimer GO:0005581 9.43 COL9A3 COL9A2 COL9A1
5 extracellular matrix GO:0031012 9.35 MATN3 COMP COL9A3 COL9A2 COL9A1
6 collagen type IX trimer GO:0005594 8.8 COL9A3 COL9A2 COL9A1

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

# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 9.16 COMP COL9A1
2 skeletal system development GO:0001501 9.13 MATN3 COMP COL9A2
3 extracellular matrix organization GO:0030198 9.02 MATN3 COMP COL9A3 COL9A2 COL9A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL9A3 COL9A2 COL9A1
2 extracellular matrix structural constituent GO:0005201 9.02 MATN3 COMP COL9A3 COL9A2 COL9A1

Sources for Multiple Epiphyseal Dysplasia, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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