MCID: PRN052
MIFTS: 23

Perinatally Lethal Osteogenesis Imperfecta malady

Bone diseases category

Summaries for Perinatally Lethal Osteogenesis Imperfecta

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MalaCards: Perinatally Lethal Osteogenesis Imperfecta is related to osteogenesis imperfecta and osteogenesis imperfecta type i. An important gene associated with Perinatally Lethal Osteogenesis Imperfecta is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Non-integrin membrane-ECM interactions and Cell adhesion ECM remodeling. The compounds cyanogen bromide and Collagenase have been mentioned in the context of this disorder. Related mouse phenotypes are skeleton and muscle.

Aliases & Classifications for Perinatally Lethal Osteogenesis Imperfecta

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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases


Aliases & Descriptions:

perinatally lethal osteogenesis imperfecta 20


Related Diseases for Perinatally Lethal Osteogenesis Imperfecta

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Perinatally Lethal Osteogenesis Imperfecta:



Diseases related to perinatally lethal osteogenesis imperfecta

Clinical Features for Perinatally Lethal Osteogenesis Imperfecta

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Drugs & Therapeutics for Perinatally Lethal Osteogenesis Imperfecta

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Perinatally Lethal Osteogenesis Imperfecta

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20GeneTests
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Genetic tests related to Perinatally Lethal Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Perinatally Lethal Osteogenesis Imperfecta20 COL1A2

Anatomical Context for Perinatally Lethal Osteogenesis Imperfecta

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Animal Models for Perinatally Lethal Osteogenesis Imperfecta or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Perinatally Lethal Osteogenesis Imperfecta:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5CD36, COL1A1, COL1A2
2MP:00053698.2CD36, COL1A1, COL1A2

Publications for Perinatally Lethal Osteogenesis Imperfecta

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Genetic Variations for Perinatally Lethal Osteogenesis Imperfecta

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Expression for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

Search GEO for disease gene expression data for Perinatally Lethal Osteogenesis Imperfecta.

Pathways for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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53Reactome, 29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN, 49PharmGKB
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Pathways related to Perinatally Lethal Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1CD36, COL1A1
2
Cell adhesion ECM remodeling
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9.0COL1A2, COL1A1
39.0COL1A1, COL1A2
4
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9.0COL1A1, COL1A2
59.0COL1A2, COL1A1
69.0COL1A1, COL1A2
7
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
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9.0COL1A1, COL1A2
8
Development Endothelin-1/EDNRA signaling
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9.0COL1A1, COL1A2
9
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9.0COL1A1, COL1A2
10
Cell adhesion Integrin-mediated cell adhesion and migration
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9.0COL1A2, COL1A1
11
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9.0COL1A1, COL1A2
12
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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9.0COL1A1, COL1A2
139.0COL1A2, COL1A1
149.0COL1A2, COL1A1
159.0COL1A1, COL1A2
169.0COL1A2, COL1A1
179.0COL1A2, COL1A1
189.0COL1A1, COL1A2
199.0COL1A1, COL1A2
208.5CD36, COL1A1, COL1A2
21
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8.5CD36, COL1A1, COL1A2
22
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8.5COL1A2, COL1A1, CD36
238.5CD36, COL1A1, COL1A2

Compounds for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 49PharmGKB, 2BitterDB
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Compounds related to Perinatally Lethal Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1cyanogen bromide449.6COL1A2, CD36
2Collagenase119.4COL1A1, COL1A2
3nppa449.3COL1A2, COL1A1
4carbodiimide449.3COL1A1, COL1A2
5nppb44 59 2811.3COL1A1, COL1A2
6hydroxyproline44 11 2411.3CD36, COL1A1
7xbai449.3COL1A1, COL1A2
8ecori449.3COL1A1, COL1A2
9rsai449.3COL1A2, COL1A1
10mspi449.2COL1A1, COL1A2
11glycosaminoglycan449.2COL1A1, CD36
12simvastatin44 49 59 28 11 2414.0COL1A1, COL1A2
13ribonucleic acid449.0COL1A1, COL1A2
14procollagen448.8CD36, COL1A1, COL1A2
15vitamin d448.8COL1A2, COL1A1, CD36
16chloramphenicol44 2 1110.7COL1A1, COL1A2
17estrogen448.7COL1A2, COL1A1, CD36
18cysteine448.6CD36, COL1A1, COL1A2
19serine448.4COL1A2, COL1A1, CD36

GO Terms for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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16Gene Ontology
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Cellular components related to Perinatally Lethal Osteogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.0COL1A1, COL1A2
2collagen type IGO:0055848.9COL1A1, COL1A2
3extracellular matrixGO:0310128.7COL1A1, COL1A2

Biological processes related to Perinatally Lethal Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.3COL1A1, COL1A2
2protein heterotrimerizationGO:0702089.2COL1A2, COL1A1
3cellular response to amino acid stimulusGO:0712309.2COL1A1, COL1A2
4collagen fibril organizationGO:0301999.1COL1A2, COL1A1
5blood vessel developmentGO:0015689.1COL1A1, COL1A2
6collagen catabolic processGO:0305749.0COL1A1, COL1A2
7skeletal system developmentGO:0015019.0COL1A1, COL1A2
8extracellular matrix disassemblyGO:0226178.9COL1A2, COL1A1
9leukocyte migrationGO:0509008.7COL1A1, COL1A2
10platelet activationGO:0301688.7CD36, COL1A1, COL1A2
11blood coagulationGO:0075968.7CD36, COL1A1, COL1A2

Molecular functions related to Perinatally Lethal Osteogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.0COL1A1, COL1A2
2platelet-derived growth factor bindingGO:0484078.7COL1A1, COL1A2

Products for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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Sources for Perinatally Lethal Osteogenesis Imperfecta

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3CDC
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14FMA
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23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
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44Novoseek
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50PubMed
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57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet