MCID: EHL036
MIFTS: 23

Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Categories: Bone diseases, Skin diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

MalaCards integrated aliases for Ehlers-Danlos/osteogenesis Imperfecta Syndrome:

Name: Ehlers-Danlos/osteogenesis Imperfecta Syndrome 55
Eds/oi Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
ehlers-danlos/osteogenesis imperfecta syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA230857
ICD10 via Orphanet 33 Q79.6

Summaries for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

MalaCards based summary : Ehlers-Danlos/osteogenesis Imperfecta Syndrome, also known as eds/oi syndrome, is related to ehlers-danlos syndrome, arthrochalasia type, 1 and high bone mass osteogenesis imperfecta. An important gene associated with Ehlers-Danlos/osteogenesis Imperfecta Syndrome is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Collagen chain trimerization. Affiliated tissues include skin and bone.

Related Diseases for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Graphical network of the top 20 diseases related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome:



Diseases related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Symptoms & Phenotypes for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Drugs & Therapeutics for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Genetic Tests for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Anatomical Context for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

MalaCards organs/tissues related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome:

38
Skin, Bone

Publications for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Variations for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Expression for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Search GEO for disease gene expression data for Ehlers-Danlos/osteogenesis Imperfecta Syndrome.

Pathways for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Pathways related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 COL1A1 COL1A2
2
Show member pathways
12.31 COL1A1 COL1A2
3
Show member pathways
12.21 COL1A1 COL1A2
4
Show member pathways
12.13 COL1A1 COL1A2
5
Show member pathways
12.09 COL1A1 COL1A2
6
Show member pathways
12.05 COL1A1 COL1A2
7
Show member pathways
11.69 COL1A1 COL1A2
8
Show member pathways
11.67 COL1A1 COL1A2
9 11.58 COL1A1 COL1A2
10
Show member pathways
11.49 COL1A1 COL1A2
11 11.45 COL1A1 COL1A2
12 11.42 COL1A1 COL1A2
13 11.2 COL1A1 COL1A2
14 11.15 COL1A1 COL1A2
15 11.03 COL1A1 COL1A2
16 10.86 COL1A1 COL1A2
17 10.75 COL1A1 COL1A2
18 10.49 COL1A1 COL1A2
19 10.47 COL1A1 COL1A2
20 9.98 COL1A1 COL1A2

GO Terms for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Cellular components related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.32 COL1A1 COL1A2
2 proteinaceous extracellular matrix GO:0005578 9.26 COL1A1 COL1A2
3 endoplasmic reticulum lumen GO:0005788 9.16 COL1A1 COL1A2
4 collagen trimer GO:0005581 8.96 COL1A1 COL1A2
5 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

Biological processes related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.51 COL1A1 COL1A2
2 extracellular matrix organization GO:0030198 9.49 COL1A1 COL1A2
3 regulation of immune response GO:0050776 9.48 COL1A1 COL1A2
4 blood coagulation GO:0007596 9.46 COL1A1 COL1A2
5 skeletal system development GO:0001501 9.43 COL1A1 COL1A2
6 platelet activation GO:0030168 9.4 COL1A1 COL1A2
7 collagen catabolic process GO:0030574 9.37 COL1A1 COL1A2
8 cellular response to amino acid stimulus GO:0071230 9.32 COL1A1 COL1A2
9 blood vessel development GO:0001568 9.26 COL1A1 COL1A2
10 collagen fibril organization GO:0030199 9.16 COL1A1 COL1A2
11 protein heterotrimerization GO:0070208 8.96 COL1A1 COL1A2
12 skin morphogenesis GO:0043589 8.62 COL1A1 COL1A2

Molecular functions related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.16 COL1A1 COL1A2
2 extracellular matrix structural constituent GO:0005201 8.96 COL1A1 COL1A2
3 platelet-derived growth factor binding GO:0048407 8.62 COL1A1 COL1A2

Sources for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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