MCID: EHL036
MIFTS: 22

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:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

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

Name: Ehlers-Danlos/osteogenesis Imperfecta Syndrome 54
 
Eds/oi Syndrome 54

Characteristics:

Orphanet epidemiological data:

54
ehlers-danlos/osteogenesis imperfecta syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA230857
ICD10 via Orphanet31 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 cngb3-related stargardt disease 1 and isolated lissencephaly type 1 without known genetic defects. An important gene associated with Ehlers-Danlos/osteogenesis Imperfecta Syndrome is COL1A1 (Collagen Type I Alpha 1 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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Diseases related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1cngb3-related stargardt disease 110.0COL1A1, COL1A2
2isolated lissencephaly type 1 without known genetic defects10.0COL1A1, COL1A2
3charcot-marie-tooth neuropathy type 2a10.0COL1A1, COL1A2
4prph2-related retinitis pigmentosa10.0COL1A1, COL1A2
520p13 microdeletion syndrome10.0COL1A1, COL1A2
6phyh-related refsum disease10.0COL1A1, COL1A2
7epileptic encephalopathy, early infantile, 3610.0COL1A1, COL1A2
8porphyria cutanea tarda10.0COL1A1, COL1A2
9factor xiiia deficiency10.0COL1A1, COL1A2
10human herpesvirus 810.0COL1A1, COL1A2
11osteogenesis imperfecta, type iii10.0COL1A1, COL1A2
12cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.0COL1A1, COL1A2
13autism susceptibility 1610.0COL1A1, COL1A2
14long qt syndrome 110.0COL1A1, COL1A2
15muscle hypertrophy10.0COL1A1, COL1A2
16diabetic neuropathy10.0COL1A1, COL1A2
17ceroid lipofuscinosis, neuronal, 1110.0COL1A1, COL1A2
18agraphia10.0COL1A1, COL1A2
19neuropathy, distal hereditary motor, type iia9.9COL1A1, COL1A2
20xanthinuria9.9COL1A1, COL1A2
21deafness, autosomal recessive 619.9COL1A1, COL1A2
22splenic flexure cancer9.9COL1A1, COL1A2
23mental retardation, autosomal recessive 359.9COL1A1, COL1A2
24osteogenesis imperfecta, type ii9.9COL1A1, COL1A2
25ehlers-danlos syndrome, cardiac valvular form9.9COL1A1, COL1A2
26bone structure disease9.9COL1A1, COL1A2
27herpes simplex9.9COL1A1, COL1A2
28sclerocornea9.9COL1A1, COL1A2
29tinea manuum9.8COL1A1, COL1A2
30carnitine deficiency, systemic primary9.8COL1A1, COL1A2
31prostatocystitis9.8COL1A1, COL1A2
32clivus meningioma9.7COL1A1, COL1A2

Graphical network of the top 20 diseases related to Ehlers-Danlos/osteogenesis Imperfecta Syndrome:



Diseases related to ehlers-danlos/osteogenesis imperfecta syndrome

Symptoms & Phenotypes 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:

36
Skin, Bone

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 17)
idSuper pathwaysScoreTop 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
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

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 trimerGO:00055819.8COL1A1, COL1A2
2collagen type I trimerGO:00055849.8COL1A1, COL1A2
3endoplasmic reticulum lumenGO:00057889.8COL1A1, COL1A2
4extracellular matrixGO:00310129.8COL1A1, COL1A2
5proteinaceous extracellular matrixGO:00055789.1COL1A1, COL1A2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075969.8COL1A1, COL1A2
2blood vessel developmentGO:00015689.8COL1A1, COL1A2
3cellular response to amino acid stimulusGO:00712309.8COL1A1, COL1A2
4collagen catabolic processGO:00305749.8COL1A1, COL1A2
5collagen fibril organizationGO:00301999.8COL1A1, COL1A2
6extracellular matrix organizationGO:00301989.8COL1A1, COL1A2
7leukocyte migrationGO:00509009.8COL1A1, COL1A2
8platelet activationGO:00301689.8COL1A1, COL1A2
9protein heterotrimerizationGO:00702089.8COL1A1, COL1A2
10regulation of immune responseGO:00507769.7COL1A1, COL1A2
11skeletal system developmentGO:00015019.4COL1A1, COL1A2
12skin morphogenesisGO:00435899.1COL1A1, COL1A2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.7COL1A1, COL1A2
2platelet-derived growth factor bindingGO:00484079.6COL1A1, COL1A2
3protease bindingGO:00020209.1COL1A1, COL1A2

Sources for Ehlers-Danlos/osteogenesis Imperfecta Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet