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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34MalaCards
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MalaCards: Ehlers-Danlos/osteogenesis Imperfecta Syndrome, also known as ehlers-danlos 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.

Aliases & Classifications for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
ehlers-danlos/osteogenesis imperfecta syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

ehlers-danlos/osteogenesis imperfecta syndrome 50
ehlers-danlos syndrome 63
eds/oi syndrome 50


External Ids:

ICD10 via Orphanet27 Q79.6

Related Diseases for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

Drug clinical trials:

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

Search CenterWatch 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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34MalaCards
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MalaCards organs/tissues related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome:

34
Bone, Skin

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

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38MGI
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MGI Mouse Phenotypes related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome:

38
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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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51PathCards, 61Thomson Reuters, 31KEGG, 56Reactome, 54QIAGEN, 39NCBI BioSystems Database, 52PharmGKB, 13EMD Millipore
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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 signaling61
Development Endothelin 1 EDNRA transactivation of EGFR61
9.1COL1A2, COL1A1
2
Show member pathways
Development EDNRB signaling61
Development ACM2 and ACM4 activation of ERK61
Cell adhesion Integrin inside out signaling61
Development G Proteins mediated regulation MARK ERK signaling61
Signal transduction IP3 signaling61
Development Angiotensin signaling via PYK261
Development EPO induced MAPK pathway61
9.1COL1A1, COL1A2
3
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
9.1COL1A1, COL1A2
4
Show member pathways
9.1COL1A2, COL1A1
5
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
9.1COL1A2, COL1A1
6
Show member pathways
9.1COL1A2, COL1A1
7
Show member pathways
9.1COL1A1, COL1A2
89.1COL1A1, COL1A2
9
Show member pathways
9.1COL1A1, COL1A2
109.1COL1A1, COL1A2
119.1COL1A1, COL1A2
129.1COL1A2, COL1A1
139.1COL1A2, COL1A1
149.1COL1A1, COL1A2
15
Show member pathways
9.1COL1A2, COL1A1
16
Show member pathways
9.1COL1A2, COL1A1
179.1COL1A2, COL1A1
189.1COL1A1, COL1A2
19
Show member pathways
9.1COL1A1, COL1A2

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

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46Novoseek, 30IUPHAR, 62Tocris Bioscience, 52PharmGKB, 25HMDB, 12DrugBank, 3BitterDB
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Compounds related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1nppa469.4COL1A2, COL1A1
2carbodiimide469.4COL1A2, COL1A1
3nppb30 46 6211.4COL1A2, COL1A1
4xbai469.4COL1A1, COL1A2
5ecori469.4COL1A2, COL1A1
6rsai469.4COL1A2, COL1A1
7mspi469.3COL1A2, COL1A1
8procollagen469.3COL1A1, COL1A2
9simvastatin46 52 62 30 25 1214.3COL1A2, COL1A1
10chloramphenicol46 3 52 1212.2COL1A2, COL1A1
11ribonucleic acid469.2COL1A2, COL1A1
12vitamin d469.1COL1A1, COL1A2
13oligonucleotide469.1COL1A2, COL1A1
14thymidine46 2510.0COL1A2, COL1A1
15aspartate468.8COL1A2, COL1A1

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

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17Gene Ontology
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Cellular components related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.1COL1A2, COL1A1
2collagen type IGO:0055849.0COL1A2, COL1A1
3extracellular matrixGO:0310128.8COL1A2, COL1A1

Biological processes related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.4COL1A2, COL1A1
2protein heterotrimerizationGO:0702089.4COL1A2, COL1A1
3collagen fibril organizationGO:0301999.4COL1A1, COL1A2
4blood vessel developmentGO:0015689.3COL1A1, COL1A2
5cellular response to amino acid stimulusGO:0712309.3COL1A2, COL1A1
6collagen catabolic processGO:0305749.3COL1A2, COL1A1
7extracellular matrix disassemblyGO:0226179.2COL1A1, COL1A2
8leukocyte migrationGO:0509009.2COL1A2, COL1A1
9skeletal system developmentGO:0015019.1COL1A2, COL1A1
10blood coagulationGO:0075969.1COL1A2, COL1A1
11platelet activationGO:0301689.0COL1A1, COL1A2
12extracellular matrix organizationGO:0301988.8COL1A2, COL1A1

Molecular functions related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.1COL1A2, COL1A1
2platelet-derived growth factor bindingGO:0484079.0COL1A2, COL1A1
3extracellular matrix structural constituentGO:0052018.8COL1A2, 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet