EDM2
MCID: EPP012
MIFTS: 38

Epiphyseal Dysplasia, Multiple, 2 (EDM2)

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

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 2

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 2:

Name: Epiphyseal Dysplasia, Multiple, 2 56 13 71
Multiple Epiphyseal Dysplasia 2 12 52 73 29 6 15
Edm2 56 12 52 73
Dysplasia, Epiphyseal, Multiple, Type 2 39
Epiphyseal Dysplasia Multiple 2 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see edm1 )
presentation in childhood includes waddling gait and knee pain/stiffness


HPO:

31
epiphyseal dysplasia, multiple, 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070298
OMIM 56 600204
OMIM Phenotypic Series 56 PS132400
MeSH 43 D010009
MedGen 41 C1838429
UMLS 71 C1838429

Summaries for Epiphyseal Dysplasia, Multiple, 2

UniProtKB/Swiss-Prot : 73 Multiple epiphyseal dysplasia 2: 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.

MalaCards based summary : Epiphyseal Dysplasia, Multiple, 2, also known as multiple epiphyseal dysplasia 2, is related to multiple epiphyseal dysplasia and osteoarthritis. An important gene associated with Epiphyseal Dysplasia, Multiple, 2 is COL9A2 (Collagen Type IX Alpha 2 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. Affiliated tissues include bone, and related phenotypes are epiphyseal dysplasia and short palm

Disease Ontology : 12 A multiple epiphyseal dysplasia due to collagen 9 anomaly that has material basis in heterozygous mutation in the COL9A2 gene on chromosome 1p34.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166002 Definition Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature , early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported. Visit the Orphanet disease page for more resources.

OMIM : 56 Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous skeletal disorder characterized by joint pain and stiffness, mild short stature, and degenerative joint disease. Onset of the disorder is usually in childhood (summary by Jackson et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of EDM, see EDM1 (132400). (600204)

Related Diseases for Epiphyseal Dysplasia, Multiple, 2

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 31.3 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
2 osteoarthritis 29.7 MATN3 COMP COL9A1
3 pseudoachondroplasia 29.1 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
4 epiphyseal dysplasia, multiple, 3 28.7 SMAP2 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
5 back pain 10.2 COL9A3 COL9A2
6 hypochondrogenesis 10.2 COL9A2 COL9A1
7 multiple epiphyseal dysplasia, recessive 10.2
8 osteochondrosis 10.2 COL9A3 COL9A1
9 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.1 COL9A3 COL9A2 COL9A1
10 autosomal recessive stickler syndrome 10.1 COL9A3 COL9A2 COL9A1
11 bone deterioration disease 10.1 COL9A3 COL9A2 COL9A1
12 spinal stenosis 10.1 COL9A3 COL9A2 COL9A1
13 bone structure disease 10.0 COL9A3 COL9A2 COL9A1
14 intervertebral disc disease 10.0 COL9A3 COL9A2
15 skeletal dysplasias 10.0 MATN3 COMP
16 campomelic dysplasia 9.9 COL9A2 COL9A1
17 spondyloepiphyseal dysplasia congenita 9.8 MATN3 COMP COL9A1
18 atelosteogenesis 9.8 SLC26A2 COL9A3 COL9A2 COL9A1
19 stickler syndrome 9.8 MATN3 COL9A3 COL9A2 COL9A1
20 pyle disease 9.8 RMRP COMP
21 otospondylomegaepiphyseal dysplasia 9.8 COMP COL9A3 COL9A2 COL9A1
22 epiphyseal dysplasia, multiple, 6 9.6 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
23 epiphyseal dysplasia, multiple, 4 9.6 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
24 spondyloepimetaphyseal dysplasia, matrilin-3 related 9.6 SLC26A2 MATN3 COMP COL9A1
25 multiple epiphyseal dysplasia, autosomal dominant 9.5 MATN3 COMP COL9A3 COL9A2 COL9A1
26 osteochondritis dissecans 9.5 MATN3 COMP COL9A3 COL9A2 COL9A1
27 vitreous syneresis 9.5 SMAP2 COL9A3 COL9A2 COL9A1
28 kniest dysplasia 9.5 SMAP2 COL9A3 COL9A2 COL9A1
29 spondyloepiphyseal dysplasia with congenital joint dislocations 9.5 SLC26A2 COMP COL9A3 COL9A2 COL9A1
30 epiphyseal dysplasia, multiple, 5 9.2 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
31 achondrogenesis 9.2 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
32 diastrophic dysplasia 9.2 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
33 bone development disease 9.2 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
34 odontochondrodysplasia 9.2 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
35 epiphyseal dysplasia, multiple, 1 9.0 SLC26A2 MATN3 GPR33 COMP COL9A3 COL9A2

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 2:



Diseases related to Epiphyseal Dysplasia, Multiple, 2

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 2

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 2:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 epiphyseal dysplasia 31 HP:0002656
2 short palm 31 HP:0004279
3 waddling gait 31 HP:0002515
4 flattened epiphysis 31 HP:0003071
5 genu varum 31 HP:0002970
6 mild short stature 31 HP:0003502
7 small epiphyses 31 HP:0010585
8 irregular epiphyses 31 HP:0010582
9 knee osteoarthritis 31 HP:0005086

Symptoms via clinical synopsis from OMIM:

56
Skeletal Limbs:
knee osteoarthritis
flattened, irregular epiphyses
varus/valgus knee deformity

Skeletal Hands:
mildly short hands

Growth Height:
short stature, mild

Clinical features from OMIM:

600204

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.02 COL9A1 COL9A2 COMP MATN3 SLC26A2

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 2

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 2

Genetic Tests for Epiphyseal Dysplasia, Multiple, 2

Genetic tests related to Epiphyseal Dysplasia, Multiple, 2:

# Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 2 29

Anatomical Context for Epiphyseal Dysplasia, Multiple, 2

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 2:

40
Bone

Publications for Epiphyseal Dysplasia, Multiple, 2

Articles related to Epiphyseal Dysplasia, Multiple, 2:

(show all 11)
# Title Authors PMID Year
1
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. 6 56
20358595 2010
2
Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation. 6 56
15633184 2005
3
Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2). 6 56
12244547 2002
4
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). 56 6
8528240 1996
5
Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee. Incidence in two families. 56 6
3238439 1988
6
Multiple Epiphyseal Dysplasia, Autosomal Dominant 6
20301302 2003
7
Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. 6
10364514 1999
8
Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. 56
7942845 1994
9
The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4. 56
7829066 1994
10
Multiple epiphysial dysplasia. 56
13560805 1958
11
Multiple epiphyseal dysplasia. 2. Morphological and histochemical investigation of cartilage matrix, particularly in the pre-calcification stage. 61
1180054 1975

Variations for Epiphyseal Dysplasia, Multiple, 2

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL9A2 NM_001852.4(COL9A2):c.186+2T>CSNV Pathogenic 17142 1:40780022-40780022 1:40314350-40314350
2 COL9A2 COL9A2, IVS3DS, 186G-ASNV Pathogenic 17143
3 COL9A2 NM_001852.4(COL9A2):c.186+5G>CSNV Pathogenic 17144 1:40780019-40780019 1:40314347-40314347
4 COL9A2 COL9A2, IVS3DS, G-C, -1SNV Pathogenic 17146
5 COL9A2 NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr)SNV Uncertain significance 283517 rs565855414 1:40770060-40770060 1:40304388-40304388
6 COL9A2 NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)SNV Uncertain significance 297297 rs373264436 1:40769480-40769480 1:40303808-40303808
7 COL9A2 NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)SNV Uncertain significance 297302 rs375476174 1:40770504-40770504 1:40304832-40304832
8 COL9A2 NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)SNV Uncertain significance 417900 rs201847956 1:40766865-40766865 1:40301193-40301193
9 COL9A2 NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu)SNV Uncertain significance 547939 rs77937237 1:40777347-40777347 1:40311675-40311675

Expression for Epiphyseal Dysplasia, Multiple, 2

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 2.

Pathways for Epiphyseal Dysplasia, Multiple, 2

Pathways related to Epiphyseal Dysplasia, Multiple, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 COMP COL9A3 COL9A2 COL9A1
2
Show member pathways
12.44 COMP COL9A3 COL9A2 COL9A1
3
Show member pathways
12.31 MATN3 COMP COL9A3 COL9A2 COL9A1
4
Show member pathways
11.65 COMP COL9A3 COL9A2 COL9A1
5 10.84 COL9A3 COL9A1
6 10.78 MATN3 COMP COL9A3 COL9A2 COL9A1
7 10.7 COL9A3 COL9A2 COL9A1

GO Terms for Epiphyseal Dysplasia, Multiple, 2

Cellular components related to Epiphyseal Dysplasia, Multiple, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.56 MATN3 COL9A3 COL9A2 COL9A1
2 collagen-containing extracellular matrix GO:0062023 9.55 MATN3 COMP COL9A3 COL9A2 COL9A1
3 collagen trimer GO:0005581 9.5 COL9A3 COL9A2 COL9A1
4 extracellular matrix GO:0031012 9.35 MATN3 COMP COL9A3 COL9A2 COL9A1
5 collagen type IX trimer GO:0005594 8.8 COL9A3 COL9A2 COL9A1

Biological processes related to Epiphyseal Dysplasia, Multiple, 2 according to GeneCards Suite gene sharing:

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

Molecular functions related to Epiphyseal Dysplasia, Multiple, 2 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 Epiphyseal Dysplasia, Multiple, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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