MCID: EHL036
MIFTS: 23

Ehlers-Danlos/osteogenesis Imperfecta Syndrome malady

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

Aliases & Classifications for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

About this section
Sources:
51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Ehlers-Danlos/osteogenesis Imperfecta Syndrome:

Name: Ehlers-Danlos/osteogenesis Imperfecta Syndrome 51
 
Eds/oi Syndrome 51

Characteristics:

Orphanet epidemiological data:

51
ehlers-danlos/osteogenesis imperfecta syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 230857
ICD10 via Orphanet28 Q79.6

Summaries for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

About this section
MalaCards based summary: Ehlers-Danlos/osteogenesis Imperfecta Syndrome, also known as eds/oi syndrome, is related to congenital trigeminal anesthesia and col4a1-related disorders. An important gene associated with Ehlers-Danlos/osteogenesis Imperfecta Syndrome is COL1A2 (Collagen Type I Alpha 2), and among its related pathways are ECM-receptor interaction and Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include bone, skin and eye.

Related Diseases for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

About this section

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



Diseases related to ehlers-danlos/osteogenesis imperfecta syndrome

Symptoms for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

About this section

Drugs & Therapeutics for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

About this section

Interventional clinical trials:

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

Genetic Tests for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

About this section

Anatomical Context for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

About this section

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

33
Bone, Skin, Eye, Lymph node

Animal Models for Ehlers-Danlos/osteogenesis Imperfecta Syndrome or affiliated genes

About this section

Publications for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

About this section

Variations for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

About this section

Expression for genes affiliated with Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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

Pathways for genes affiliated with Ehlers-Danlos/osteogenesis Imperfecta Syndrome

About this section

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

(show all 18)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1COL1A1, COL1A2
2
Show member pathways
9.1COL1A1, COL1A2
39.1COL1A1, COL1A2
49.1COL1A1, COL1A2
5
Show member pathways
9.1COL1A1, COL1A2
6
Show member pathways
9.1COL1A1, COL1A2
7
Show member pathways
9.1COL1A1, COL1A2
8
Show member pathways
9.1COL1A1, COL1A2
99.1COL1A1, COL1A2
109.1COL1A1, COL1A2
119.1COL1A1, COL1A2
129.1COL1A1, COL1A2
139.1COL1A1, COL1A2
149.1COL1A1, COL1A2
159.1COL1A1, COL1A2
169.1COL1A1, COL1A2
179.1COL1A1, COL1A2
189.1COL1A1, COL1A2

GO Terms for genes affiliated with Ehlers-Danlos/osteogenesis Imperfecta Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:00055849.1COL1A1, COL1A2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:00301689.4COL1A1, COL1A2
2blood coagulationGO:00075969.4COL1A1, COL1A2
3collagen catabolic processGO:00305749.2COL1A1, COL1A2
4cellular response to amino acid stimulusGO:00712309.1COL1A1, COL1A2
5extracellular matrix disassemblyGO:00226179.1COL1A1, COL1A2
6leukocyte migrationGO:00509009.0COL1A1, COL1A2
7skin morphogenesisGO:00435898.8COL1A1, COL1A2

Sources for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet