EDM5
MCID: EPP013
MIFTS: 38

Epiphyseal Dysplasia, Multiple, 5 (EDM5)

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

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 5

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 5:

Name: Epiphyseal Dysplasia, Multiple, 5 58 13 45 74
Multiple Epiphyseal Dysplasia 5 12 54 76 30 6 15
Edm5 58 12 54 60 76
Bhmed 58 12 60
Microepiphyseal Dysplasia, Bilateral Hereditary; Bhmed 58
Microepiphyseal Dysplasia, Bilateral Hereditary 58
Bilateral Hereditary Micro-Epiphyseal Dysplasia 60
Bilateral Hereditary Microepiphyseal Dysplasia 12
Multiple Epiphyseal Dysplasia, Matn3-Related 58
Multiple Epiphyseal Dysplasia, Matn3 Related 54
Multiple Epiphyseal Dysplasia Matn3-Related 12
Dysplasia, Epiphyseal, Multiple, Type 5 41
Multiple Epiphyseal Dysplasia Type 5 60
Epiphyseal Dysplasia Multiple 5 54
Polyepiphyseal Dysplasia Type 5 60
Med5 60

Characteristics:

Orphanet epidemiological data:

60
multiple epiphyseal dysplasia type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see edm1 )
allelic to spondyloepimetaphyseal dysplasia, matn-3 related
allelic to hand osteoarthritis


HPO:

33
epiphyseal dysplasia, multiple, 5:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070299
OMIM 58 607078
MESH via Orphanet 46 C535505
ICD10 via Orphanet 35 Q77.3
UMLS via Orphanet 75 C1846843
Orphanet 60 ORPHA93311
MedGen 43 C1846843
UMLS 74 C1846843

Summaries for Epiphyseal Dysplasia, Multiple, 5

UniProtKB/Swiss-Prot : 76 Multiple epiphyseal dysplasia 5: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis.

MalaCards based summary : Epiphyseal Dysplasia, Multiple, 5, also known as multiple epiphyseal dysplasia 5, is related to multiple epiphyseal dysplasia and med23, and has symptoms including hip pain and knee pain. An important gene associated with Epiphyseal Dysplasia, Multiple, 5 is MATN3 (Matrilin 3), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. Affiliated tissues include bone, and related phenotypes are osteoarthritis and epiphyseal dysplasia

Disease Ontology : 12 A multiple epiphyseal dysplasia that has material basis in heterozygous mutation in the MATN3 gene on chromosome 2p24.

Description from OMIM: 607078

Related Diseases for Epiphyseal Dysplasia, Multiple, 5

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 Epiphyseal Dysplasia, Multiple, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 30.8 COL9A2 COL9A3 COMP MATN3 SLC26A2
2 med23 10.2
3 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.1 COL9A2 COL9A3
4 autosomal recessive stickler syndrome 10.0 COL9A2 COL9A3
5 stickler syndrome 10.0 COL9A2 COL9A3
6 bone deterioration disease 10.0 COL9A2 COL9A3
7 spinal stenosis 9.9 COL9A2 COL9A3
8 achondrogenesis 9.9 COL9A2 SLC26A2
9 atelosteogenesis 9.9 COL9A2 SLC26A2
10 bone structure disease 9.9 COL9A2 COL9A3
11 skeletal dysplasias 9.9 COMP MATN3
12 metaphyseal chondrodysplasia, schmid type 9.9 COMP MATN3
13 intervertebral disc disease 9.8 COL9A2 COL9A3
14 diastrophic dysplasia 9.7 COMP SLC26A2
15 spondyloepiphyseal dysplasia congenita 9.7 COMP SLC26A2
16 epiphyseal dysplasia, multiple, 2 9.6 COL9A2 COL9A3 COMP
17 osteoarthritis 9.6 COMP MATN3
18 epiphyseal dysplasia, multiple, 4 9.5 COL9A2 COL9A3 MATN3 SLC26A2
19 epiphyseal dysplasia, multiple, 3 9.4 COL9A2 COL9A3 COMP MATN3
20 osteochondritis dissecans 9.4 COL9A2 COL9A3 COMP MATN3
21 bone development disease 9.3 COL9A2 COMP MATN3 SLC26A2
22 epiphyseal dysplasia, multiple, 1 9.0 COL9A2 COL9A3 COMP MATN3 SLC26A2
23 pseudoachondroplasia 9.0 COL9A2 COL9A3 COMP MATN3 SLC26A2

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 5:



Diseases related to Epiphyseal Dysplasia, Multiple, 5

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 5

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002758
2 epiphyseal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002656
3 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
4 hip dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001385
5 joint stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0001387
6 arthralgia 60 33 frequent (33%) Frequent (79-30%) HP:0002829
7 genu valgum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002857
8 genu varum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002970
9 limitation of joint mobility 60 Frequent (79-30%)
10 coxa vara 33 HP:0002812
11 multiple epiphyseal dysplasia 33 HP:0002654
12 small epiphyses 33 HP:0010585
13 irregular epiphyses 33 HP:0010582
14 broad femoral neck 33 HP:0006429
15 short femoral neck 33 HP:0100864
16 arthralgia of the hip 33 HP:0003365
17 metaphyseal irregularity 33 HP:0003025
18 hypoplasia of the capital femoral epiphysis 33 HP:0003090
19 premature osteoarthritis 33 HP:0003088
20 delayed tarsal ossification 33 HP:0008103
21 delayed ossification of carpal bones 33 HP:0001216

Symptoms via clinical synopsis from OMIM:

58
Skeletal Pelvis:
coxa vara
broad, short femoral neck
small proximal femoral epiphyses
arthralgia (hip)
high greater trochanter

Growth Height:
normal stature

Skeletal Hands:
delayed carpal ossification
small, irregular epiphyses (first metacarpal)

Skeletal:
multiple epiphyseal dysplasia
early onset osteoarthritis

Skeletal Limbs:
genua valga
small, irregular epiphyses (distal femoral, proximal tibiae, distal radii, distal ulnae)
mild metaphyseal irregularities (distal femoral, proximal tibiae, proximal humeri, distal radii, distal ulnae)
arthralgias (knees)
submetaphyseal vertical striations

Skeletal Feet:
delayed tarsal ossification

Clinical features from OMIM:

607078

UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 5:


hip pain, knee pain

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.92 COL9A2 COMP MATN3 SLC26A2

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 5

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 5

Cochrane evidence based reviews: epiphyseal dysplasia, multiple, 5

Genetic Tests for Epiphyseal Dysplasia, Multiple, 5

Genetic tests related to Epiphyseal Dysplasia, Multiple, 5:

# Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 5 30 MATN3

Anatomical Context for Epiphyseal Dysplasia, Multiple, 5

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 5:

42
Bone

Publications for Epiphyseal Dysplasia, Multiple, 5

Variations for Epiphyseal Dysplasia, Multiple, 5

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

76 (show all 15)
# Symbol AA change Variation ID SNP ID
1 MATN3 p.Arg121Trp VAR_013691 rs104893637
2 MATN3 p.Val194Asp VAR_013692 rs104893645
3 MATN3 p.Thr120Met VAR_019882 rs397515546
4 MATN3 p.Ala128Pro VAR_019883 rs104893641
5 MATN3 p.Glu134Lys VAR_019884
6 MATN3 p.Ile192Asn VAR_019885
7 MATN3 p.Ala219Asp VAR_019886 rs28939677
8 MATN3 p.Phe105Ser VAR_020844
9 MATN3 p.Arg70His VAR_054807 rs104893640
10 MATN3 p.Thr195Lys VAR_054808
11 MATN3 p.Tyr218Asn VAR_054809
12 MATN3 p.Ala173Asp VAR_066831 rs779413744
13 MATN3 p.Arg209Pro VAR_066832 rs749845872
14 MATN3 p.Lys231Asn VAR_066833 rs773642745
15 MATN3 p.Val245Met VAR_066834 rs182164052

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 MATN3 NM_002381.4(MATN3): c.581T> A (p.Val194Asp) single nucleotide variant Pathogenic rs104893645 GRCh37 Chromosome 2, 20205714: 20205714
2 MATN3 NM_002381.4(MATN3): c.581T> A (p.Val194Asp) single nucleotide variant Pathogenic rs104893645 GRCh38 Chromosome 2, 20005953: 20005953
3 MATN3 NM_002381.4(MATN3): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic rs104893637 GRCh37 Chromosome 2, 20205934: 20205934
4 MATN3 NM_002381.4(MATN3): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic rs104893637 GRCh38 Chromosome 2, 20006173: 20006173
5 MATN3 NM_002381.4(MATN3): c.656C> A (p.Ala219Asp) single nucleotide variant Pathogenic rs28939677 GRCh37 Chromosome 2, 20205639: 20205639
6 MATN3 NM_002381.4(MATN3): c.656C> A (p.Ala219Asp) single nucleotide variant Pathogenic rs28939677 GRCh38 Chromosome 2, 20005878: 20005878
7 MATN3 NM_002381.4(MATN3): c.209G> A (p.Arg70His) single nucleotide variant Pathogenic rs104893640 GRCh37 Chromosome 2, 20212184: 20212184
8 MATN3 NM_002381.4(MATN3): c.209G> A (p.Arg70His) single nucleotide variant Pathogenic rs104893640 GRCh38 Chromosome 2, 20012423: 20012423
9 MATN3 NM_002381.4(MATN3): c.382G> C (p.Ala128Pro) single nucleotide variant Pathogenic rs104893641 GRCh37 Chromosome 2, 20205913: 20205913
10 MATN3 NM_002381.4(MATN3): c.382G> C (p.Ala128Pro) single nucleotide variant Pathogenic rs104893641 GRCh38 Chromosome 2, 20006152: 20006152
11 MATN3 NM_002381.4(MATN3): c.359C> T (p.Thr120Met) single nucleotide variant Pathogenic rs397515546 GRCh37 Chromosome 2, 20205936: 20205936
12 MATN3 NM_002381.4(MATN3): c.359C> T (p.Thr120Met) single nucleotide variant Pathogenic rs397515546 GRCh38 Chromosome 2, 20006175: 20006175
13 MATN3 NC_000002.11: g.20199299_20208224dup duplication Likely pathogenic GRCh37 Chromosome 2, 20199299: 20208224

Expression for Epiphyseal Dysplasia, Multiple, 5

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 5.

Pathways for Epiphyseal Dysplasia, Multiple, 5

Pathways related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 COL9A2 COL9A3 COMP VWF
2
Show member pathways
12.32 COL9A2 COL9A3 COMP VWF
3
Show member pathways
12.11 COL9A2 COL9A3 COMP MATN3
4
Show member pathways
11.43 COL9A2 COL9A3 COMP VWF
5 10.94 COL9A2 COL9A3
6 10.68 COL9A2 COL9A3 COMP MATN3

GO Terms for Epiphyseal Dysplasia, Multiple, 5

Cellular components related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.67 COL9A2 COL9A3 COMP MATN3
2 extracellular region GO:0005576 9.65 COL9A2 COL9A3 COMP MATN3 VWF
3 endoplasmic reticulum lumen GO:0005788 9.33 COL9A2 COL9A3 MATN3
4 collagen trimer GO:0005581 9.32 COL9A2 COL9A3
5 collagen type IX trimer GO:0005594 8.96 COL9A2 COL9A3
6 extracellular matrix GO:0031012 8.92 COL9A2 COL9A3 COMP MATN3

Biological processes related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.13 COL9A2 COMP MATN3
2 extracellular matrix organization GO:0030198 9.02 COL9A2 COL9A3 COMP MATN3 VWF

Molecular functions related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.26 COMP VWF
2 collagen binding GO:0005518 9.16 COMP VWF
3 extracellular matrix structural constituent GO:0005201 9.02 COL9A2 COL9A3 COMP MATN3 VWF
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL9A2 COL9A3

Sources for Epiphyseal Dysplasia, Multiple, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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