MCID: CLS035
MIFTS: 19

Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae malady

Genetic diseases (common), Bone diseases categories

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 22
Classic Non-Deforming Oi with Blue Sclerae 22
 
Osteogenesis Imperfecta Type 1 22
Oi Type 1 22


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. An important gene associated with Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae is COL1A1 (Collagen, Type I, Alpha 1), and among its related pathways are PI3K-Akt signaling pathway and Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include bone.

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

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Diseases related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type i10.6
2osteogenesis imperfecta10.4
3osteogenesis imperfecta type 1a10.3
4osteolysis syndrome recessive10.0COL1A1, COL1A2
5classic rett syndrome10.0COL1A1, COL1A2
6congenital trigeminal anesthesia10.0COL1A1, COL1A2
7idiopathic linear interstitial keratitis10.0COL1A1, COL1A2
8pervasive developmental disorder not otherwise specified10.0COL1A1, COL1A2
9col4a1-related disorders10.0COL1A1, COL1A2
10eif4g1-related parkinson disease10.0COL1A1, COL1A2
11larsen-like syndrome10.0COL1A1, COL1A2
12ehlers-danlos syndrome, type viib10.0COL1A1, COL1A2
13autosomal dominant microcephaly9.9COL1A1, COL1A2
14caffey disease9.9COL1A1, COL1A2
15osteogenesis imperfecta, type ii9.9COL1A1, COL1A2
16mental retardation, autosomal recessive 359.9COL1A1, COL1A2
17osteogenesis imperfecta, type iii9.9COL1A1, COL1A2
18osteogenesis imperfecta, type iv9.9COL1A1, COL1A2
19cogan-reese syndrome9.9COL1A1, COL1A2
20ehlers-danlos syndrome, classic type9.9COL1A1, COL1A2
21splenic flexure cancer9.9COL1A1, COL1A2
22xanthinuria9.9COL1A1, COL1A2
23depressed scar9.9COL1A1, COL1A2
24anterior cruciate ligament tears9.9COL1A1, COL1A2
25osteomyelitis9.9COL1A1, COL1A2
26sclerosing hemangioma9.9COL1A1, COL1A2
27scrotal carcinoma9.9COL1A1, COL1A2
28colon adenocarcinoma9.9COL1A1, COL1A2
29bone ewing's sarcoma9.9COL1A1, COL1A2
30deafness, x-linked 69.8COL1A1, COL1A2
31ehrlichiosis9.8COL1A1, COL1A2
32osteoporosis9.8COL1A1, COL1A2
33sapho syndrome9.8COL1A1, COL1A2
34constipation9.7COL1A1, COL1A2

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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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 Sclerae22 COL1A2

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

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MalaCards organs/tissues related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae:

33
Bone

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
1COL1A1NM_000088.3(COL1A1): c.814G> T (p.Gly272Cys)single nucleotide variantPathogenicrs72645331GRCh37Chr 17, 48274022: 48274022
2COL1A1NM_000088.3(COL1A1): c.4358_4362delAATTC (p.Glu1453Glyfs)deletionPathogenicrs72656352GRCh37Chr 17, 48262896: 48262900
3COL1A1NM_000088.3(COL1A1): c.1066G> T (p.Gly356Cys)single nucleotide variantPathogenicrs72645365GRCh37Chr 17, 48273017: 48273017
4COL1A1NM_000088.3(COL1A1): c.3235G> A (p.Gly1079Ser)single nucleotide variantPathogenicrs72654802GRCh37Chr 17, 48265483: 48265483
5COL1A1COL1A1, IVS26DS, G-A, +1single nucleotide variantPathogenic
6COL1A1NM_000088.3(COL1A1): c.3421C> T (p.Arg1141Ter)single nucleotide variantPathogenicrs72656314GRCh37Chr 17, 48264847: 48264847
7COL1A1COL1A1, IVS19DS, G-C, +1single nucleotide variantPathogenic
8COL1A1NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter)single nucleotide variantPathogenicrs794726873GRCh37Chr 17, 48278784: 48278784

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 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 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:00055849.7COL1A1, COL1A2
2extracellular matrixGO:00310129.1COL1A1, COL1A2
3collagen trimerGO:00055819.0COL1A1, 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 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 Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae 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 Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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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