MCID: CLS035
MIFTS: 20

Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Aliases & Descriptions for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae:

Name: Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae 24
Classic Non-Deforming Oi with Blue Sclerae 24
Osteogenesis Imperfecta Type I 24
 
Lobstein's Disease 68
Oi Type I 24

Classifications:



Summaries for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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MalaCards based summary: Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae, also known as classic non-deforming oi with blue sclerae, is related to osteogenesis imperfecta, type i and osteogenesis imperfecta, and has symptoms including scleral discoloration An important gene associated with Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways are PI3K-Akt signaling pathway and ECM-receptor interaction.

Related Diseases for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Graphical network of the top 20 diseases related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae:



Diseases related to classic non-deforming osteogenesis imperfecta with blue sclerae

Symptoms & Phenotypes for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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UMLS symptoms related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae:


scleral discoloration

Drugs & Therapeutics for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

Genetic Tests for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Genetic tests related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae:

id Genetic test Affiliating Genes
1 Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae24 COL1A2

Anatomical Context for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Publications for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Variations for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Clinvar genetic disease variations for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A1COL1A1, IVS19DS, G-C, +1SNVPathogenicChr na, -1: -1
2COL1A1NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter)SNVPathogenicrs794726873GRCh37Chr 17, 48278784: 48278784
3COL1A1NM_000088.3(COL1A1): c.472-1G> CSNVPathogenicrs72667020GRCh37Chr 17, 48275866: 48275866
4COL1A1NM_000088.3(COL1A1): c.2161C> T (p.Gln721Ter)SNVLikely pathogenic, Pathogenicrs193922145GRCh37Chr 17, 48268818: 48268818

Expression for genes affiliated with Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Search GEO for disease gene expression data for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae.

Pathways for genes affiliated with Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Pathways related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae according to GeneCards Suite gene sharing:

(show all 19)
idSuper pathwaysScoreTop Affiliating Genes
19.1COL1A1, COL1A2
2
Show member pathways
9.1COL1A1, COL1A2
3
Show member pathways
9.1COL1A1, 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
189.1COL1A1, COL1A2
199.1COL1A1, COL1A2

GO Terms for genes affiliated with Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Cellular components related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae 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:00310129.1COL1A1, COL1A2

Biological processes related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae 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 Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.4COL1A1, COL1A2
2platelet-derived growth factor bindingGO:00484079.1COL1A1, COL1A2

Sources for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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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