MCID: EHL036
MIFTS: 24

Ehlers-Danlos/osteogenesis Imperfecta Syndrome malady

Bone diseases, Skin diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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Sources:
47Orphanet, 26ICD10 via Orphanet
See all sources

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

Name: Ehlers-Danlos/osteogenesis Imperfecta Syndrome 47
 
Eds/oi Syndrome 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Rare diseases
Anatomical: Bone diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

47
ehlers-danlos/osteogenesis imperfecta syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 230857
ICD10 via Orphanet26 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 col1a1/2-related osteogenesis imperfecta and osteogenesis imperfecta, type iii. An important gene associated with Ehlers-Danlos/osteogenesis Imperfecta Syndrome is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Development Endothelin 1 EDNRA signaling and Development Angiotensin activation of ERK. The compounds nppa and carbodiimide have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related mouse phenotype limbs/digits/tail.

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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Drug clinical trials:

Search ClinicalTrials for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Search 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:

31
Bone, Skin

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

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MGI Mouse Phenotypes related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1COL1A2, COL1A1

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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling FAK signaling58
Development Endothelin 1 EDNRA transactivation of EGFR58
9.1COL1A2, COL1A1
2
Show member pathways
Development EDNRB signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
9.1COL1A1, COL1A2
3
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.1COL1A2, COL1A1
4
Show member pathways
9.1COL1A1, COL1A2
5
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
9.1COL1A2, COL1A1
6
Show member pathways
9.1COL1A2, COL1A1
7
Show member pathways
9.1COL1A2, COL1A1
89.1COL1A2, COL1A1
9
Show member pathways
9.1COL1A2, COL1A1
109.1COL1A1, COL1A2
119.1COL1A2, COL1A1
129.1COL1A2, COL1A1
139.1COL1A2, COL1A1
149.1COL1A1, COL1A2
15
Show member pathways
9.1COL1A2, COL1A1
16
Show member pathways
Metalloproteases in connective tissue degradation
9.1COL1A2, COL1A1
179.1COL1A1, COL1A2
189.1COL1A2, COL1A1
19
Show member pathways
9.1COL1A2, COL1A1

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

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

(show all 15)
idCompoundScoreTop Affiliating Genes
1nppa439.4COL1A2, COL1A1
2carbodiimide439.4COL1A2, COL1A1
3nppb28 43 5911.4COL1A2, COL1A1
4xbai439.4COL1A1, COL1A2
5ecori439.4COL1A2, COL1A1
6rsai439.4COL1A2, COL1A1
7mspi439.3COL1A2, COL1A1
8procollagen439.3COL1A1, COL1A2
9simvastatin43 49 59 28 24 1214.3COL1A2, COL1A1
10chloramphenicol43 2 49 1212.2COL1A2, COL1A1
11ribonucleic acid439.2COL1A2, COL1A1
12vitamin d439.1COL1A1, COL1A2
13oligonucleotide439.1COL1A2, COL1A1
14thymidine43 2410.0COL1A2, COL1A1
15aspartate438.8COL1A2, COL1A1

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
1endoplasmic reticulum lumenGO:00057889.1COL1A2, COL1A1
2collagen type IGO:00055849.0COL1A2, COL1A1
3extracellular matrixGO:00310128.8COL1A2, COL1A1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:00435899.4COL1A2, COL1A1
2protein heterotrimerizationGO:00702089.4COL1A2, COL1A1
3collagen fibril organizationGO:00301999.4COL1A1, COL1A2
4blood vessel developmentGO:00015689.3COL1A1, COL1A2
5cellular response to amino acid stimulusGO:00712309.3COL1A2, COL1A1
6collagen catabolic processGO:00305749.3COL1A2, COL1A1
7extracellular matrix disassemblyGO:00226179.2COL1A1, COL1A2
8leukocyte migrationGO:00509009.2COL1A2, COL1A1
9skeletal system developmentGO:00015019.1COL1A2, COL1A1
10blood coagulationGO:00075969.1COL1A2, COL1A1
11platelet activationGO:00301689.0COL1A1, COL1A2
12extracellular matrix organizationGO:00301988.8COL1A2, COL1A1

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428029.1COL1A2, COL1A1
2platelet-derived growth factor bindingGO:00484079.0COL1A2, COL1A1
3extracellular matrix structural constituentGO:00052018.8COL1A2, COL1A1

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

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Sources for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet