MCID: EHL036
MIFTS: 28

Ehlers-Danlos/osteogenesis Imperfecta Syndrome malady

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

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 ii. 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.

Aliases & Classifications for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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Sources:
49Orphanet, 28ICD10 via Orphanet
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Ehlers-Danlos/osteogenesis Imperfecta Syndrome, Aliases & Descriptions:

Name: Ehlers-Danlos/osteogenesis Imperfecta Syndrome 49
 
Eds/oi Syndrome 49


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
ehlers-danlos/osteogenesis imperfecta syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

Orphanet49 230857
ICD10 via Orphanet28 Q79.6

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:

33
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:

37
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/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
9.1COL1A2, COL1A1
2
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.1COL1A1, COL1A2
3
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.1COL1A2, COL1A1
4
Show member pathways
9.1COL1A1, COL1A2
5
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
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
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/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1nppa459.4COL1A2, COL1A1
2carbodiimide459.4COL1A2, COL1A1
3nppb30 45 6111.4COL1A2, COL1A1
4xbai459.4COL1A1, COL1A2
5ecori459.4COL1A2, COL1A1
6rsai459.4COL1A2, COL1A1
7mspi459.3COL1A2, COL1A1
8procollagen459.3COL1A1, COL1A2
9simvastatin45 51 61 30 26 1314.3COL1A2, COL1A1
10chloramphenicol45 3 51 1312.2COL1A2, COL1A1
11ribonucleic acid459.2COL1A2, COL1A1
12vitamin d459.1COL1A1, COL1A2
13oligonucleotide459.1COL1A2, COL1A1
14thymidine45 2610.0COL1A2, COL1A1
15aspartate458.8COL1A2, 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/GeneDecks:

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/GeneDecks:

(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/GeneDecks:

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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet