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 67
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 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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Animal Models for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae or affiliated genes

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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 type I trimerGO:00055849.6COL1A1, COL1A2
2collagen trimerGO:00055819.5COL1A1, COL1A2
3extracellular matrixGO:00310129.1COL1A1, COL1A2
4endoplasmic reticulum lumenGO:00057888.8COL1A1, 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
1skin morphogenesisGO:00435899.7COL1A1, COL1A2
2protein heterotrimerizationGO:00702089.6COL1A1, COL1A2
3regulation of immune responseGO:00507769.5COL1A1, COL1A2
4collagen catabolic processGO:00305749.5COL1A1, COL1A2
5blood vessel developmentGO:00015689.5COL1A1, COL1A2
6platelet activationGO:00301689.4COL1A1, COL1A2
7skeletal system developmentGO:00015019.4COL1A1, COL1A2
8leukocyte migrationGO:00509009.2COL1A1, COL1A2
9collagen fibril organizationGO:00301999.2COL1A1, COL1A2
10blood coagulationGO:00075969.1COL1A1, COL1A2
11cellular response to amino acid stimulusGO:00712309.1COL1A1, COL1A2
12extracellular matrix organizationGO:00301988.8COL1A1, 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:00052019.1COL1A1, COL1A2
2platelet-derived growth factor bindingGO:00484078.8COL1A1, COL1A2

Sources for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet