EDM3
MCID: EPP015
MIFTS: 35

Epiphyseal Dysplasia, Multiple, 3 (EDM3)

Categories: Bone 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 58 13 74
Multiple Epiphyseal Dysplasia 3 12 54 76 30 6 15
Edm3 58 12 54 76
Epiphyseal Dysplasia, Multiple, 3, with or Without Myopathy 58
Multiple Epiphyseal Dysplasia 3 with or Without Myopathy 12
Dysplasia, Epiphyseal, Multiple, Type 3 41
Epiphyseal Dysplasia Multiple 3 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epiphyseal dysplasia, multiple, 3:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070304
OMIM 58 600969
MeSH 45 D010009
UMLS 74 C1832998

Summaries for Epiphyseal Dysplasia, Multiple, 3

UniProtKB/Swiss-Prot : 76 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 multiple epiphyseal dysplasia due to collagen 9 anomaly. An important gene associated with Epiphyseal Dysplasia, Multiple, 3 is COL9A3 (Collagen Type IX Alpha 3 Chain), 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 due to collagen 9 anomaly that has material basis in heterozygous mutation in the COL9A3 gene on chromosome 20q13.

OMIM : 58 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)

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 18)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 31.0 COL9A2 COL9A3 COMP MATN3
2 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.0 COL9A2 COL9A3
3 autosomal recessive stickler syndrome 10.0 COL9A2 COL9A3
4 stickler syndrome 10.0 COL9A2 COL9A3
5 bone deterioration disease 9.9 COL9A2 COL9A3
6 spinal stenosis 9.9 COL9A2 COL9A3
7 bone structure disease 9.9 COL9A2 COL9A3
8 intervertebral disc disease 9.8 COL9A2 COL9A3
9 skeletal dysplasias 9.7 COMP MATN3
10 metaphyseal chondrodysplasia, schmid type 9.7 COMP MATN3
11 epiphyseal dysplasia, multiple, 4 9.7 COL9A2 COL9A3 MATN3
12 epiphyseal dysplasia, multiple, 2 9.6 COL9A2 COL9A3 COMP
13 bone development disease 9.5 COL9A2 COMP MATN3
14 osteoarthritis 9.4 COMP MATN3
15 epiphyseal dysplasia, multiple, 5 9.2 COL9A2 COL9A3 COMP MATN3
16 epiphyseal dysplasia, multiple, 1 9.2 COL9A2 COL9A3 COMP MATN3
17 osteochondritis dissecans 9.2 COL9A2 COL9A3 COMP MATN3
18 pseudoachondroplasia 9.2 COL9A2 COL9A3 COMP MATN3

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:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 osteoarthritis 33 HP:0002758
2 epiphyseal dysplasia 33 HP:0002656
3 proximal muscle weakness 33 HP:0003701
4 short metacarpal 33 HP:0010049
5 mild short stature 33 HP:0003502
6 small epiphyses 33 HP:0010585
7 irregular epiphyses 33 HP:0010582
8 delayed epiphyseal ossification 33 HP:0002663
9 mildly elevated creatine kinase 33 HP:0008180
10 abnormality of the hip joint 33 HP:0001384

Symptoms via clinical synopsis from OMIM:

58
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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.8 COL9A2 COMP MATN3

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 Multiple Epiphyseal Dysplasia 3 30 COL9A3

Anatomical Context for Epiphyseal Dysplasia, Multiple, 3

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 3:

42
Bone

Publications for Epiphyseal Dysplasia, Multiple, 3

Variations for Epiphyseal Dysplasia, Multiple, 3

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

76
# Symbol AA change Variation ID SNP ID
1 COL9A3 p.Gly35Asp VAR_072736 rs139073636

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL9A3 COL9A3, IVS3DS, G-A, +5 single nucleotide variant Pathogenic
2 COL9A3 COL9A3, IVS2AS, A-T, -2 single nucleotide variant Pathogenic
3 COL9A3 NM_001853.4(COL9A3): c.369+2T> C single nucleotide variant Pathogenic rs1057518693 GRCh38 Chromosome 20, 62821532: 62821532
4 COL9A3 NM_001853.4(COL9A3): c.369+2T> C single nucleotide variant Pathogenic rs1057518693 GRCh37 Chromosome 20, 61452884: 61452884
5 COL9A3 NM_001853.4(COL9A3): c.183+4A> C single nucleotide variant Likely pathogenic rs1555821817 GRCh37 Chromosome 20, 61449909: 61449909
6 COL9A3 NM_001853.4(COL9A3): c.183+4A> C single nucleotide variant Likely pathogenic rs1555821817 GRCh38 Chromosome 20, 62818557: 62818557
7 COL9A3 NM_001853.4(COL9A3): c.920G> A (p.Gly307Asp) single nucleotide variant Likely pathogenic rs1422176468 GRCh37 Chromosome 20, 61460135: 61460135
8 COL9A3 NM_001853.4(COL9A3): c.920G> A (p.Gly307Asp) single nucleotide variant Likely pathogenic rs1422176468 GRCh38 Chromosome 20, 62828783: 62828783
9 COL9A3 NM_001853.4(COL9A3): c.1249C> G (p.Pro417Ala) single nucleotide variant Pathogenic rs1555824129 GRCh38 Chromosome 20, 62830550: 62830550
10 COL9A3 NM_001853.4(COL9A3): c.1249C> G (p.Pro417Ala) single nucleotide variant Pathogenic rs1555824129 GRCh37 Chromosome 20, 61461902: 61461902
11 COL9A3 NM_001853.4(COL9A3): c.1987G> A (p.Asp663Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 62840664: 62840664
12 COL9A3 NM_001853.4(COL9A3): c.1987G> A (p.Asp663Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 61472016: 61472016

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
12.38 COL9A2 COL9A3 COMP
2
Show member pathways
12.26 COL9A2 COL9A3 COMP
3
Show member pathways
11.91 COL9A2 COL9A3 COMP MATN3
4
Show member pathways
11.51 COL9A2 COL9A3 COMP
5 10.82 COL9A2 COL9A3
6 10.68 COL9A2 COL9A3 COMP MATN3

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 9.67 COL9A2 COL9A3 COMP MATN3
2 extracellular space GO:0005615 9.56 COL9A2 COL9A3 COMP MATN3
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, 3 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 8.92 COL9A2 COL9A3 COMP MATN3

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 8.96 COL9A2 COL9A3
2 extracellular matrix structural constituent GO:0005201 8.92 COL9A2 COL9A3 COMP MATN3

Sources for Epiphyseal Dysplasia, Multiple, 3

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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