MCID: EHL036
MIFTS: 21

Ehlers-Danlos/osteogenesis Imperfecta Syndrome malady

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

Aliases & Classifications for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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Sources:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

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

Name: Ehlers-Danlos/osteogenesis Imperfecta Syndrome 53
 
Eds/oi Syndrome 53

Characteristics:

Orphanet epidemiological data:

53
ehlers-danlos/osteogenesis imperfecta syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet53 ORPHA230857
ICD10 via Orphanet30 Q79.6

Summaries for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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MalaCards based summary: Ehlers-Danlos/osteogenesis Imperfecta Syndrome, also known as eds/oi syndrome, is related to infundibulo-neurohypophysitis and contractures-webbed neck-micrognathia-hypoplastic nipples syndrome. An important gene associated with Ehlers-Danlos/osteogenesis Imperfecta Syndrome is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways are PI3K-Akt signaling pathway and ECM-receptor interaction. Affiliated tissues include skin and bone.

Related Diseases for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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



Diseases related to ehlers-danlos/osteogenesis imperfecta syndrome

Symptoms for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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Drugs & Therapeutics for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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Interventional clinical trials:

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

Genetic Tests for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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Anatomical Context for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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

35
Skin, Bone

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

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Publications for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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Variations for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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

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

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

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

(show all 19)
idSuper pathwaysScoreTop Affiliating Genes
19.1COL1A1, COL1A2
2
Show member pathways
9.1COL1A1, COL1A2
3
Show member pathways
9.1COL1A1, COL1A2
4
Show member pathways
9.1COL1A1, 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
199.1COL1A1, COL1A2

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

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

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:00055849.6COL1A1, COL1A2
2collagen trimerGO:00055819.5COL1A1, COL1A2
3extracellular matrixGO:00310129.1COL1A1, COL1A2
4endoplasmic reticulum lumenGO:00057888.8COL1A1, COL1A2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:00435899.7COL1A1, COL1A2
2protein heterotrimerizationGO:00702089.6COL1A1, COL1A2
3regulation of immune responseGO:00507769.5COL1A1, COL1A2
4collagen catabolic processGO:00305749.5COL1A1, COL1A2
5blood vessel developmentGO:00015689.5COL1A1, COL1A2
6platelet activationGO:00301689.4COL1A1, COL1A2
7skeletal system developmentGO:00015019.4COL1A1, COL1A2
8leukocyte migrationGO:00509009.2COL1A1, COL1A2
9collagen fibril organizationGO:00301999.2COL1A1, COL1A2
10blood coagulationGO:00075969.1COL1A1, COL1A2
11cellular response to amino acid stimulusGO:00712309.1COL1A1, COL1A2
12extracellular matrix organizationGO:00301988.8COL1A1, COL1A2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.1COL1A1, COL1A2
2platelet-derived growth factor bindingGO:00484078.8COL1A1, COL1A2

Sources for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet