MCID: EHL036
MIFTS: 23

Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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

Aliases & Classifications for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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

Name: Ehlers-Danlos/osteogenesis Imperfecta Syndrome 59
Eds/oi Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos/osteogenesis imperfecta syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA230857
ICD10 via Orphanet 34 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 high bone mass osteogenesis imperfecta and larsen-like syndrome. 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 Focal Adhesion 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:

41
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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 COL1A1 COL1A2
2
Show member pathways
12.28 COL1A1 COL1A2
3
Show member pathways
12.2 COL1A1 COL1A2
4
Show member pathways
12.12 COL1A1 COL1A2
5
Show member pathways
12.08 COL1A1 COL1A2
6
Show member pathways
11.69 COL1A1 COL1A2
7
Show member pathways
11.68 COL1A1 COL1A2
8 11.58 COL1A1 COL1A2
9
Show member pathways
11.49 COL1A1 COL1A2
10 11.45 COL1A1 COL1A2
11 11.42 COL1A1 COL1A2
12 11.2 COL1A1 COL1A2
13 11.15 COL1A1 COL1A2
14 11.03 COL1A1 COL1A2
15 10.86 COL1A1 COL1A2
16 10.75 COL1A1 COL1A2
17 10.47 COL1A1 COL1A2
18 10.47 COL1A1 COL1A2
19 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 endoplasmic reticulum lumen GO:0005788 9.26 COL1A1 COL1A2
3 collagen-containing extracellular matrix GO:0062023 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 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.49 COL1A1 COL1A2
2 extracellular matrix organization GO:0030198 9.48 COL1A1 COL1A2
3 leukocyte migration GO:0050900 9.46 COL1A1 COL1A2
4 blood coagulation GO:0007596 9.43 COL1A1 COL1A2
5 skeletal system development GO:0001501 9.4 COL1A1 COL1A2
6 platelet activation GO:0030168 9.37 COL1A1 COL1A2
7 cellular response to amino acid stimulus GO:0071230 9.32 COL1A1 COL1A2
8 blood vessel development GO:0001568 9.26 COL1A1 COL1A2
9 collagen fibril organization GO:0030199 9.16 COL1A1 COL1A2
10 protein heterotrimerization GO:0070208 8.96 COL1A1 COL1A2
11 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 extracellular matrix structural constituent GO:0005201 9.26 COL1A1 COL1A2
2 protease binding GO:0002020 9.16 COL1A1 COL1A2
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL1A1 COL1A2
4 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
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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