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 57 13 72
Multiple Epiphyseal Dysplasia 2 12 53 74 29 6 15
Edm2 57 12 53 74
Dysplasia, Epiphyseal, Multiple, Type 2 40
Epiphyseal Dysplasia Multiple 2 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epiphyseal dysplasia, multiple, 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070298
MeSH 44 D010009
MedGen 42 C1838429
UMLS 72 C1838429

Summaries for Epiphyseal Dysplasia, Multiple, 2

UniProtKB/Swiss-Prot : 74 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 epiphyseal dysplasia, multiple, 3. An important gene associated with Epiphyseal Dysplasia, Multiple, 2 is COL9A2 (Collagen Type IX Alpha 2 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. 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 : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 166002DefinitionMultiple 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 : 57 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 17)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 30.5 COMP COL9A3 COL9A2 COL9A1
2 epiphyseal dysplasia, multiple, 3 29.4 COMP COL9A3 COL9A2
3 osteoarthritis 28.9 COMP COL9A1
4 pseudoachondroplasia 28.3 COMP COL9A3 COL9A2 COL9A1
5 multiple epiphyseal dysplasia, recessive 10.2
6 bone deterioration disease 9.9 COL9A3 COL9A2
7 bone structure disease 9.9 COL9A3 COL9A2
8 intervertebral disc disease 9.7 COL9A3 COL9A2
9 bone development disease 9.7 COMP COL9A2
10 epiphyseal dysplasia, multiple, 5 9.4 COMP COL9A3 COL9A2
11 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.3 COL9A3 COL9A2 COL9A1
12 autosomal recessive stickler syndrome 9.3 COL9A3 COL9A2 COL9A1
13 stickler syndrome 9.3 COL9A3 COL9A2 COL9A1
14 epiphyseal dysplasia, multiple, 4 9.2 COL9A3 COL9A2 COL9A1
15 spinal stenosis 9.2 COL9A3 COL9A2 COL9A1
16 epiphyseal dysplasia, multiple, 1 8.7 COMP COL9A3 COL9A2 COL9A1
17 osteochondritis dissecans 8.7 COMP COL9A3 COL9A2 COL9A1

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:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 epiphyseal dysplasia 32 HP:0002656
2 short palm 32 HP:0004279
3 waddling gait 32 HP:0002515
4 flattened epiphysis 32 HP:0003071
5 genu varum 32 HP:0002970
6 mild short stature 32 HP:0003502
7 small epiphyses 32 HP:0010585
8 irregular epiphyses 32 HP:0010582
9 knee osteoarthritis 32 HP:0005086

Symptoms via clinical synopsis from OMIM:

57
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

GenomeRNAi Phenotypes related to Epiphyseal Dysplasia, Multiple, 2 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 Epiphyseal Dysplasia, Multiple, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.8 COL9A1 COL9A2 COMP

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 COL9A2

Anatomical Context for Epiphyseal Dysplasia, Multiple, 2

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

41
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. 8 71
20358595 2010
2
Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation. 8 71
15633184 2005
3
Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2). 8 71
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). 8 71
8528240 1996
5
Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee. Incidence in two families. 8 71
3238439 1988
6
Multiple Epiphyseal Dysplasia, Autosomal Dominant 71
20301302 2003
7
Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. 71
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. 8
7942845 1994
9
The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4. 8
7829066 1994
10
Multiple epiphysial dysplasia. 8
13560805 1958
11
Multiple epiphyseal dysplasia. 2. Morphological and histochemical investigation of cartilage matrix, particularly in the pre-calcification stage. 38
1180054 1975

Variations for Epiphyseal Dysplasia, Multiple, 2

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL9A2 COL9A2, IVS3DS, T-C, +2 single nucleotide variant Pathogenic
2 COL9A2 COL9A2, IVS3DS, 186G-A single nucleotide variant Pathogenic
3 COL9A2 COL9A2, IVS3DS, G-C, +5 single nucleotide variant Pathogenic
4 COL9A2 COL9A2, IVS3DS, G-C, -1 single nucleotide variant Pathogenic
5 COL9A2 NM_001852.4(COL9A2): c.1219C> A (p.Pro407Thr) single nucleotide variant Uncertain significance rs565855414 1:40770060-40770060 1:40304388-40304388
6 COL9A2 NM_001852.4(COL9A2): c.1400A> G (p.Gln467Arg) single nucleotide variant Uncertain significance rs373264436 1:40769480-40769480 1:40303808-40303808
7 COL9A2 NM_001852.4(COL9A2): c.1123C> G (p.Arg375Gly) single nucleotide variant Uncertain significance rs375476174 1:40770504-40770504 1:40304832-40304832
8 COL9A2 NM_001852.4(COL9A2): c.2059A> G (p.Lys687Glu) single nucleotide variant Uncertain significance rs201847956 1:40766865-40766865 1:40301193-40301193
9 COL9A2 NM_001852.4(COL9A2): c.458C> T (p.Pro153Leu) single nucleotide variant Uncertain significance 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:

(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
12.21 COMP COL9A3 COL9A2 COL9A1
6
Show member pathways
11.76 COL9A3 COL9A2 COL9A1
7
Show member pathways
11.45 COMP COL9A3 COL9A2 COL9A1
8 10.92 COL9A3 COL9A1
9 10.9 COL9A3 COL9A2 COL9A1
10 10.68 COMP COL9A3 COL9A2 COL9A1
11 10.54 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 extracellular region GO:0005576 9.67 COMP COL9A3 COL9A2 COL9A1
2 extracellular space GO:0005615 9.62 COMP COL9A3 COL9A2 COL9A1
3 endoplasmic reticulum lumen GO:0005788 9.43 COL9A3 COL9A2 COL9A1
4 collagen trimer GO:0005581 9.33 COL9A3 COL9A2 COL9A1
5 extracellular matrix GO:0031012 9.26 COMP COL9A3 COL9A2 COL9A1
6 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 9.16 COMP COL9A2
2 animal organ morphogenesis GO:0009887 8.96 COMP COL9A1
3 extracellular matrix organization GO:0030198 8.92 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 8.92 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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