MCID: MLT141
MIFTS: 28

Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

Categories: Bone diseases, Fetal diseases, Rare diseases, Genetic 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 59

Characteristics:

Orphanet epidemiological data:

59

Classifications:



External Ids:

Orphanet 59 ORPHA166002
ICD10 via Orphanet 34 Q77.3

Summaries for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

MalaCards based summary : Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly is related to back pain and bone deterioration disease. An important gene associated with Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly is COL9A3 (Collagen Type IX Alpha 3 Chain), and among its related pathways/superpathways are Developmental Biology and Integrin Pathway. Affiliated tissues include bone, and related phenotypes are gait disturbance and limitation of joint mobility

Related Diseases for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

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:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
2 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
3 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
4 osteoarthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002758
5 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
6 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
7 genu varum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002970
8 micromelia 59 32 frequent (33%) Frequent (79-30%) HP:0002983
9 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
10 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 8.8 COL9A1 COL9A2 COL9A3

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:

41
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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 COL9A1 COL9A2 COL9A3
2
Show member pathways
12.79 COL9A1 COL9A2 COL9A3
3
Show member pathways
12.52 COL9A1 COL9A2 COL9A3
4
Show member pathways
12.44 COL9A1 COL9A2 COL9A3
5
Show member pathways
12.35 COL9A1 COL9A2 COL9A3
6
Show member pathways
12.27 COL9A1 COL9A2 COL9A3
7
Show member pathways
12.15 COL9A1 COL9A2 COL9A3
8
Show member pathways
11.51 COL9A1 COL9A2 COL9A3
9 10.89 COL9A1 COL9A2 COL9A3
10 10.78 COL9A1 COL9A3
11 10.37 COL9A1 COL9A2 COL9A3

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 extracellular region GO:0005576 9.43 COL9A1 COL9A2 COL9A3
2 endoplasmic reticulum lumen GO:0005788 9.33 COL9A1 COL9A2 COL9A3
3 collagen trimer GO:0005581 9.13 COL9A1 COL9A2 COL9A3
4 collagen type IX trimer GO:0005594 8.8 COL9A1 COL9A2 COL9A3

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 extracellular matrix organization GO:0030198 8.8 COL9A1 COL9A2 COL9A3

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 8.8 COL9A1 COL9A2 COL9A3

Sources for Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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