MCID: MLT141
MIFTS: 28

Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

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

Aliases & Classifications for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

MalaCards integrated aliases for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly:

Name: Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 12 58 15

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070305
ICD10 via Orphanet 33 Q77.3
Orphanet 58 ORPHA166002

Summaries for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

Disease Ontology : 12 A multiple epiphyseal dysplasia that has material basis in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3).

MalaCards based summary : Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly is related to epiphyseal dysplasia, multiple, 6 and epiphyseal dysplasia, multiple, 3. An important gene associated with Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly is COL9A2 (Collagen Type IX Alpha 2 Chain), and among its related pathways/superpathways are Degradation of the extracellular matrix and ECM-receptor interaction. Affiliated tissues include bone, and related phenotypes are abnormality of epiphysis morphology and osteoarthritis

Related Diseases for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

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 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 epiphyseal dysplasia, multiple, 6 32.5 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
2 epiphyseal dysplasia, multiple, 3 31.3 TMED2 SMAP2 SLC26A2 PDZD11 MATN3 EDEM2
3 epiphyseal dysplasia, multiple, 2 30.6 SMAP2 SLC26A2 PRODH PDZD11 OR1L1 MATN3
4 back pain 10.3 COL9A3 COL9A2
5 autosomal recessive stickler syndrome 10.3 COL9A3 COL9A2 COL9A1
6 osteochondrosis 10.3 COL9A3 COL9A2 COL9A1
7 fibrochondrogenesis 10.3 COL9A3 COL9A2 COL9A1
8 hypochondrogenesis 10.2 SLC26A2 MATN3 COL9A1
9 spinal stenosis 10.2 COL9A3 COL9A2 COL9A1
10 legg-calve-perthes disease 10.2 SLC26A2 MATN3 COL9A1
11 vitreous syneresis 10.2 SMAP2 COL9A3 COL9A2
12 skeletal dysplasias 10.2 MATN3 COMP
13 bone structure disease 10.2 PRODH COL9A3 COL9A2
14 atelosteogenesis 10.2 SLC26A2 COL9A3 COL9A2 COL9A1
15 platyspondylic lethal skeletal dysplasia, torrance type 10.2 MATN3 COMP
16 achondrogenesis, type ib 10.2 SLC26A2 COL9A1
17 stickler syndrome 10.2 MATN3 COL9A3 COL9A2 COL9A1
18 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.1 COMP COL9A3 COL9A2 COL9A1
19 kniest dysplasia 10.1 SMAP2 COL9A3 COL9A2 COL9A1
20 spondyloepiphyseal dysplasia congenita 10.1 MATN3 COMP COL9A3 COL9A1
21 marshall syndrome 10.1 SMAP2 COL9A3 COL9A2 COL9A1
22 spondyloepiphyseal dysplasia with congenital joint dislocations 10.1 SLC26A2 COMP COL9A2 COL9A1
23 clubfoot 10.1 SLC26A2 PRODH COL9A2 COL9A1
24 achondrogenesis, type ii 10.1 MATN3 COMP
25 multiple epiphyseal dysplasia, autosomal dominant 10.1 MATN3 COMP COL9A3 COL9A2 COL9A1
26 osteochondritis dissecans 10.0 MATN3 COMP COL9A3 COL9A2 COL9A1
27 multiple epiphyseal dysplasia 9.9 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
28 epiphyseal dysplasia, multiple, 5 9.9 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
29 epiphyseal dysplasia, multiple, 4 9.9 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
30 achondrogenesis 9.9 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
31 diastrophic dysplasia 9.9 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
32 spondyloepimetaphyseal dysplasia, matrilin-3 related 9.9 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
33 pseudoachondroplasia 9.9 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
34 bone development disease 9.9 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
35 odontochondrodysplasia 9.8 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
36 cardiac valvular dysplasia, x-linked 9.7 ZNF346 HPSE
37 epiphyseal dysplasia, multiple, 1 9.5 TMED2 SLC26A2 MATN3 GPR33 COMP COL9A3

Graphical network of the top 20 diseases related to Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly:



Diseases related to Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

Symptoms & Phenotypes for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

Human phenotypes related to Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
2 osteoarthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002758
3 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
6 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
7 micromelia 58 31 frequent (33%) Frequent (79-30%) HP:0002983
8 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
9 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
10 genu varum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002970

MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.17 COL9A1 COL9A2 COMP MATN3 PRODH SLC26A2

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

Search Clinical Trials , NIH Clinical Center for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

Genetic Tests for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

Anatomical Context for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly:

40
Bone

Publications for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

Variations for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

Expression for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

Search GEO for disease gene expression data for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly.

Pathways for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

Pathways related to Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly according to GeneCards Suite gene sharing:

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

GO Terms for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

Cellular components related to Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.65 MATN3 COMP COL9A3 COL9A2 COL9A1
2 endoplasmic reticulum lumen GO:0005788 9.55 MATN3 EDEM2 COL9A3 COL9A2 COL9A1
3 collagen trimer GO:0005581 9.5 COL9A3 COL9A2 COL9A1
4 extracellular matrix GO:0031012 9.43 MATN3 HPSE COMP COL9A3 COL9A2 COL9A1
5 collagen type IX trimer GO:0005594 8.8 COL9A3 COL9A2 COL9A1

Biological processes related to Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 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 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 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 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

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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