MCID: EHL036
MIFTS: 20

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:
51Orphanet, 28ICD10 via Orphanet
See all sources

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

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 230857
ICD10 via Orphanet28 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 osteolysis syndrome recessive and classic rett syndrome. An important gene associated with Ehlers-Danlos/osteogenesis Imperfecta Syndrome is COL1A2 (Collagen, Type I, Alpha 2), and among its related pathways are PI3K-Akt signaling pathway and Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include skin and bone.

Related Diseases for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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Diseases related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1osteolysis syndrome recessive10.0COL1A1, COL1A2
2classic rett syndrome10.0COL1A1, COL1A2
3congenital trigeminal anesthesia10.0COL1A1, COL1A2
4idiopathic linear interstitial keratitis10.0COL1A1, COL1A2
5pervasive developmental disorder not otherwise specified10.0COL1A1, COL1A2
6col4a1-related disorders10.0COL1A1, COL1A2
7eif4g1-related parkinson disease10.0COL1A1, COL1A2
8larsen-like syndrome10.0COL1A1, COL1A2
9ehlers-danlos syndrome, type viib10.0COL1A1, COL1A2
10autosomal dominant microcephaly9.9COL1A1, COL1A2
11caffey disease9.9COL1A1, COL1A2
12osteogenesis imperfecta, type ii9.9COL1A1, COL1A2
13mental retardation, autosomal recessive 359.9COL1A1, COL1A2
14osteogenesis imperfecta, type iii9.9COL1A1, COL1A2
15osteogenesis imperfecta, type iv9.9COL1A1, COL1A2
16cogan-reese syndrome9.9COL1A1, COL1A2
17ehlers-danlos syndrome, classic type9.9COL1A1, COL1A2
18splenic flexure cancer9.9COL1A1, COL1A2
19xanthinuria9.9COL1A1, COL1A2
20depressed scar9.9COL1A1, COL1A2
21anterior cruciate ligament tears9.9COL1A1, COL1A2
22osteomyelitis9.9COL1A1, COL1A2
23sclerosing hemangioma9.9COL1A1, COL1A2
24scrotal carcinoma9.9COL1A1, COL1A2
25colon adenocarcinoma9.9COL1A1, COL1A2
26bone ewing's sarcoma9.9COL1A1, COL1A2
27deafness, x-linked 69.8COL1A1, COL1A2
28ehrlichiosis9.8COL1A1, COL1A2
29osteoporosis9.8COL1A1, COL1A2
30sapho syndrome9.8COL1A1, COL1A2
31constipation9.7COL1A1, COL1A2

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

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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:

33
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 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1COL1A1, COL1A2
2
Show member pathways
9.1COL1A1, COL1A2
39.1COL1A1, 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
89.1COL1A1, 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

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:00055849.7COL1A1, COL1A2
2extracellular matrixGO:00310129.1COL1A1, COL1A2
3collagen trimerGO:00055819.0COL1A1, COL1A2
4endoplasmic reticulum lumenGO:00057888.8COL1A1, COL1A2

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:00435899.8COL1A1, COL1A2
2protein heterotrimerizationGO:00702089.6COL1A1, COL1A2
3leukocyte migrationGO:00509009.6COL1A1, COL1A2
4skeletal system developmentGO:00015019.5COL1A1, COL1A2
5blood vessel developmentGO:00015689.5COL1A1, COL1A2
6collagen fibril organizationGO:00301999.5COL1A1, COL1A2
7regulation of immune responseGO:00507769.5COL1A1, COL1A2
8receptor-mediated endocytosisGO:00068989.5COL1A1, COL1A2
9extracellular matrix disassemblyGO:00226179.5COL1A1, COL1A2
10collagen catabolic processGO:00305749.4COL1A1, COL1A2
11cellular response to amino acid stimulusGO:00712309.4COL1A1, COL1A2
12extracellular matrix organizationGO:00301989.1COL1A1, COL1A2
13blood coagulationGO:00075969.0COL1A1, COL1A2
14platelet activationGO:00301688.8COL1A1, COL1A2

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.1COL1A1, COL1A2
2extracellular matrix structural constituentGO:00052018.8COL1A1, COL1A2

Sources for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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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