EDM3
MCID: EPP015
MIFTS: 38

Epiphyseal Dysplasia, Multiple, 3 (EDM3)

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

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 3

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 3:

Name: Epiphyseal Dysplasia, Multiple, 3 57 29 13 6 70
Multiple Epiphyseal Dysplasia 3 12 20 72 15
Edm3 57 12 20 72
Epiphyseal Dysplasia, Multiple, 3, with or Without Myopathy 57 29
Multiple Epiphyseal Dysplasia 3 with or Without Myopathy 12
Dysplasia, Epiphyseal, Multiple, Type 3 39
Epiphyseal Dysplasia Multiple 3 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see edm1 )
onset of symptoms in childhood with stiff, painful joints
joint replacement often necessary


HPO:

31
epiphyseal dysplasia, multiple, 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0070304
OMIM® 57 600969
OMIM Phenotypic Series 57 PS132400
MeSH 44 D010009
UMLS 70 C1832998

Summaries for Epiphyseal Dysplasia, Multiple, 3

UniProtKB/Swiss-Prot : 72 Multiple epiphyseal dysplasia 3: 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, 3, also known as multiple epiphyseal dysplasia 3, is related to multiple epiphyseal dysplasia and epiphyseal dysplasia, multiple, 1. An important gene associated with Epiphyseal Dysplasia, Multiple, 3 is COL9A3 (Collagen Type IX Alpha 3 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. Related phenotypes are epiphyseal dysplasia and osteoarthritis

Disease Ontology : 12 A multiple epiphyseal dysplasia due to collagen 9 anomaly that has material basis in heterozygous mutation in the COL9A3 gene on chromosome 20q13.

OMIM® : 57 Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996). For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (132400). (600969) (Updated 05-Apr-2021)

Related Diseases for Epiphyseal Dysplasia, Multiple, 3

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 30.8 SLC26A2 PDZD11 MATN3 COL9A3 COL9A2 COL9A1
2 epiphyseal dysplasia, multiple, 1 28.9 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
3 epiphyseal dysplasia, multiple, 2 27.9 SLC26A2 SLBP PDZD11 MATN3 COL9A3 COL9A2
4 back pain 10.1 COL9A3 COL9A2
5 bone deterioration disease 10.0 COL9A3 COL9A2
6 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.0 COL9A2 COL9A1
7 intervertebral disc disease 10.0 COL9A3 COL9A2
8 bone structure disease 10.0 COL9A3 COL9A2
9 fibrochondrogenesis 9.9 COL9A3 COL9A2 COL9A1
10 autosomal recessive stickler syndrome 9.9 COL9A3 COL9A2 COL9A1
11 vitreous syneresis 9.9 COL9A3 COL9A2 COL9A1
12 kniest dysplasia 9.9 COL9A3 COL9A2 COL9A1
13 marshall syndrome 9.9 COL9A3 COL9A2 COL9A1
14 spinal stenosis 9.9 COL9A3 COL9A2 COL9A1
15 campomelic dysplasia 9.9 COL9A2 COL9A1
16 retinal detachment 9.8 COL9A3 COL9A2 COL9A1
17 skeletal dysplasias 9.8 SLC26A2 MATN3
18 legg-calve-perthes disease 9.8 SLC26A2 MATN3
19 multiple epiphyseal dysplasia, autosomal dominant 9.7 MATN3 COL9A3 COL9A2 COL9A1
20 fibrochondrogenesis 1 9.6 MATN3 COL9A3 COL9A2 COL9A1
21 achondrogenesis, type ii 9.6 SLC26A2 MATN3 COL9A1
22 spondyloepiphyseal dysplasia congenita 9.6 MATN3 COL9A3 COL9A2 COL9A1
23 osteochondrosis 9.6 MATN3 COL9A3 COL9A2 COL9A1
24 osteochondritis dissecans 9.6 MATN3 COL9A3 COL9A2 COL9A1
25 stickler syndrome 9.6 MATN3 COL9A3 COL9A2 COL9A1
26 atelosteogenesis 9.6 SLC26A2 COL9A3 COL9A2 COL9A1
27 otosclerosis 9.6 SLC26A2 MATN3
28 spondyloepiphyseal dysplasia with congenital joint dislocations 9.6 SLC26A2 COL9A3 COL9A2 COL9A1
29 hypochondrogenesis 9.5 SLC26A2 MATN3 COL9A2 COL9A1
30 epiphyseal dysplasia, multiple, 6 9.3 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
31 epiphyseal dysplasia, multiple, 5 9.3 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
32 achondrogenesis, type ib 9.3 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
33 achondrogenesis 9.3 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
34 epiphyseal dysplasia, multiple, 4 9.3 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
35 diastrophic dysplasia 9.3 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
36 pseudoachondroplasia 9.3 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
37 bone development disease 9.3 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
38 odontochondrodysplasia 9.3 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
39 multiple epiphyseal dysplasia due to collagen 9 anomaly 8.4 SLC26A2 SLBP PDZD11 MATN3 EDEM2 COL9A3

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 3:



Diseases related to Epiphyseal Dysplasia, Multiple, 3

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 3

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 3:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 epiphyseal dysplasia 31 HP:0002656
2 osteoarthritis 31 HP:0002758
3 short metacarpal 31 HP:0010049
4 mildly elevated creatine kinase 31 HP:0008180
5 proximal muscle weakness 31 HP:0003701
6 mild short stature 31 HP:0003502
7 irregular epiphyses 31 HP:0010582
8 delayed epiphyseal ossification 31 HP:0002663
9 small epiphyses 31 HP:0010585
10 abnormality of the hip joint 31 HP:0001384

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Limbs:
osteoarthritis
late ossifying epiphyses
small, irregular epiphyses

Skeletal Hands:
short metacarpals
normal hands

Skeletal Pelvis:
hip arthrosis

Muscle Soft Tissue:
proximal muscle weakness
mild variability in muscle fiber size

Growth Height:
short stature, mild

Laboratory Abnormalities:
mildly elevated creatine phosphokinase (cpk)

Clinical features from OMIM®:

600969 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.92 COL9A1 COL9A2 MATN3 SLC26A2

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 3

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 3

Genetic Tests for Epiphyseal Dysplasia, Multiple, 3

Genetic tests related to Epiphyseal Dysplasia, Multiple, 3:

# Genetic test Affiliating Genes
1 Epiphyseal Dysplasia, Multiple, 3 29 COL9A3
2 Epiphyseal Dysplasia, Multiple, 3, with or Without Myopathy 29

Anatomical Context for Epiphyseal Dysplasia, Multiple, 3

Publications for Epiphyseal Dysplasia, Multiple, 3

Articles related to Epiphyseal Dysplasia, Multiple, 3:

# Title Authors PMID Year
1
Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. 6 57
15551337 2005
2
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. 6 57
10655510 2000
3
COL9A3: A third locus for multiple epiphyseal dysplasia. 57 6
10090888 1999
4
Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia. 6
10678658 2000
5
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). 57
8528240 1996
6
The Arabidopsis PHD-finger protein EDM2 has multiple roles in balancing NLR immune receptor gene expression. 61
32925902 2020
7
The Arabidopsis RRM domain protein EDM3 mediates race-specific disease resistance by controlling H3K9me2-dependent alternative polyadenylation of RPP7 immune receptor transcripts. 61
30407670 2019
8
Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 61
12884427 2003
9
[Radiologische Besonderheiten einer bilateral vererblichen Mikro-Epiphysendysplasie - deutliche Entität einer Skelettdysplasie]. 61
12101480 2002
10
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype. 61
11200990 2001

Variations for Epiphyseal Dysplasia, Multiple, 3

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 3:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL9A3 NM_001853.4(COL9A3):c.148-2A>T SNV Pathogenic 17138 rs1600786629 GRCh37: 20:61449868-61449868
GRCh38: 20:62818516-62818516
2 COL9A3 NM_001853.4(COL9A3):c.183+5G>A SNV Pathogenic 17140 rs1600786748 GRCh37: 20:61449910-61449910
GRCh38: 20:62818558-62818558
3 COL9A3 NM_001853.4(COL9A3):c.369+2T>C SNV Pathogenic 374320 rs1057518693 GRCh37: 20:61452884-61452884
GRCh38: 20:62821532-62821532
4 COL9A3 NM_001853.4(COL9A3):c.148-1G>A SNV Pathogenic 17141 rs606231367 GRCh37: 20:61449869-61449869
GRCh38: 20:62818517-62818517
5 COL9A3 NM_001853.4(COL9A3):c.700C>T (p.Arg234Ter) SNV Likely pathogenic 632378 rs1027769042 GRCh37: 20:61457571-61457571
GRCh38: 20:62826219-62826219
6 COL9A3 NM_001853.4(COL9A3):c.184-2A>G SNV Likely pathogenic 931460 GRCh37: 20:61450572-61450572
GRCh38: 20:62819220-62819220
7 COL9A3 NM_001853.4(COL9A3):c.183+4A>C SNV Likely pathogenic 488486 rs1555821817 GRCh37: 20:61449909-61449909
GRCh38: 20:62818557-62818557
8 COL9A3 NM_001853.4(COL9A3):c.505G>A (p.Ala169Thr) SNV Uncertain significance 387925 rs948698664 GRCh37: 20:61453970-61453970
GRCh38: 20:62822618-62822618
9 COL9A3 NM_001853.4(COL9A3):c.920G>A (p.Gly307Asp) SNV Uncertain significance 522664 rs1422176468 GRCh37: 20:61460135-61460135
GRCh38: 20:62828783-62828783
10 COL9A3 NM_001853.4(COL9A3):c.1249C>G (p.Pro417Ala) SNV Uncertain significance 522670 rs1555824129 GRCh37: 20:61461902-61461902
GRCh38: 20:62830550-62830550
11 COL9A3 NM_001853.4(COL9A3):c.1987G>A (p.Asp663Asn) SNV Uncertain significance 587492 rs149805455 GRCh37: 20:61472016-61472016
GRCh38: 20:62840664-62840664
12 COL9A3 NM_001853.4(COL9A3):c.2034_2037dup (p.Gly680fs) Duplication Uncertain significance 632379 rs1190301717 GRCh37: 20:61472061-61472062
GRCh38: 20:62840709-62840710
13 COL9A3 NM_001853.4(COL9A3):c.1425_1442del (p.Lys477_Pro482del) Deletion Uncertain significance 689615 rs1600810127 GRCh37: 20:61467559-61467576
GRCh38: 20:62836207-62836224
14 COL9A3 NM_001853.4(COL9A3):c.753C>G (p.Phe251Leu) SNV Uncertain significance 983520 GRCh37: 20:61458133-61458133
GRCh38: 20:62826781-62826781
15 COL9A3 NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) SNV Uncertain significance 392918 rs139401633 GRCh37: 20:61453127-61453127
GRCh38: 20:62821775-62821775
16 COL9A3 NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu) SNV Benign 193218 rs2294984 GRCh37: 20:61448466-61448466
GRCh38: 20:62817114-62817114
17 COL9A3 NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu) SNV Benign 195873 rs751557 GRCh37: 20:61463522-61463522
GRCh38: 20:62832170-62832170

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 3:

72
# Symbol AA change Variation ID SNP ID
1 COL9A3 p.Gly35Asp VAR_072736 rs139073636

Expression for Epiphyseal Dysplasia, Multiple, 3

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 3.

Pathways for Epiphyseal Dysplasia, Multiple, 3

Pathways related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 COL9A3 COL9A2 COL9A1
2
Show member pathways
12.11 MATN3 COL9A3 COL9A2 COL9A1
3
Show member pathways
11.63 COL9A3 COL9A2 COL9A1
4 10.84 COL9A3 COL9A1
5 10.7 COL9A3 COL9A2 COL9A1
6 10.68 MATN3 COL9A3 COL9A2 COL9A1

GO Terms for Epiphyseal Dysplasia, Multiple, 3

Cellular components related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.77 PDZD11 MATN3 COL9A3 COL9A2 COL9A1
2 collagen-containing extracellular matrix GO:0062023 9.62 MATN3 COL9A3 COL9A2 COL9A1
3 extracellular matrix GO:0031012 9.46 MATN3 COL9A3 COL9A2 COL9A1
4 collagen trimer GO:0005581 9.43 COL9A3 COL9A2 COL9A1
5 basement membrane GO:0005604 9.4 COL9A3 COL9A1
6 endoplasmic reticulum lumen GO:0005788 9.35 MATN3 EDEM2 COL9A3 COL9A2 COL9A1
7 collagen type IX trimer GO:0005594 8.8 COL9A3 COL9A2 COL9A1

Biological processes related to Epiphyseal Dysplasia, Multiple, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.92 MATN3 COL9A3 COL9A2 COL9A1

Molecular functions related to Epiphyseal Dysplasia, Multiple, 3 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 MATN3 COL9A3 COL9A2 COL9A1

Sources for Epiphyseal Dysplasia, Multiple, 3

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
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