MCID: PRN052
MIFTS: 29

Perinatally Lethal Osteogenesis Imperfecta malady

Genetic diseases (common), Bone diseases categories

Summaries for Perinatally Lethal Osteogenesis Imperfecta

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34MalaCards
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MalaCards: Perinatally Lethal Osteogenesis Imperfecta is related to osteogenesis imperfecta and osteogenesis imperfecta, type ii. An important gene associated with Perinatally Lethal Osteogenesis Imperfecta is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Collagen biosynthesis and modifying enzymes and Amoebiasis. The compounds cyanogen bromide and nppa have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and behavior/neurological.

Aliases & Classifications for Perinatally Lethal Osteogenesis Imperfecta

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Classifications:

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


Aliases & Descriptions:

perinatally lethal osteogenesis imperfecta 21


Related Diseases for Perinatally Lethal Osteogenesis Imperfecta

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Perinatally Lethal Osteogenesis Imperfecta:



Diseases related to perinatally lethal osteogenesis imperfecta

Symptoms for Perinatally Lethal Osteogenesis Imperfecta

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Drugs & Therapeutics for Perinatally Lethal Osteogenesis Imperfecta

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Perinatally Lethal Osteogenesis Imperfecta

Drug clinical trials:

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Search NIH Clinical Center for Perinatally Lethal Osteogenesis Imperfecta

Search CenterWatch for Perinatally Lethal Osteogenesis Imperfecta

Genetic Tests for Perinatally Lethal Osteogenesis Imperfecta

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21GeneTests
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Genetic tests related to Perinatally Lethal Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Perinatally Lethal Osteogenesis Imperfecta21 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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38MGI
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MGI Mouse Phenotypes related to Perinatally Lethal Osteogenesis Imperfecta:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5CD36, COL1A1, COL1A2
2MP:00053868.5CD36, COL1A2, COL1A1
3MP:00053908.4CD36, COL1A1, COL1A2
4MP:00053858.2COL1A2, COL1A1, CD36

Publications for Perinatally Lethal Osteogenesis Imperfecta

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53PubMed
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Articles related to Perinatally Lethal Osteogenesis Imperfecta:

idTitleAuthorsYear
1
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance. (21239989)
2011
2
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen. (7959683)
1994
3
RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation. (2470760)
1989
4
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. (3372533)
1988

Variations for Perinatally Lethal Osteogenesis Imperfecta

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Expression for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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2BioGPS, 16Gene 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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51PathCards, 56Reactome, 54QIAGEN, 31KEGG, 61Thomson Reuters, 13EMD Millipore, 39NCBI BioSystems Database, 52PharmGKB
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Pathways related to Perinatally Lethal Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0COL1A2, COL1A1
29.0COL1A1, COL1A2
3
Show member pathways
9.0COL1A2, COL1A1
4
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
9.0COL1A1, COL1A2
5
Show member pathways
Development EDNRB signaling61
Development ACM2 and ACM4 activation of ERK61
Cell adhesion Integrin inside out signaling61
Development G Proteins mediated regulation MARK ERK signaling61
Signal transduction IP3 signaling61
Development Angiotensin signaling via PYK261
Development EPO induced MAPK pathway61
9.0COL1A1, COL1A2
69.0COL1A1, COL1A2
7
Show member pathways
9.0COL1A1, COL1A2
8
Show member pathways
Cytoskeleton remodeling FAK signaling61
Development Endothelin 1 EDNRA transactivation of EGFR61
9.0COL1A2, COL1A1
99.0COL1A2, COL1A1
109.0COL1A2, COL1A1
11
Show member pathways
9.0COL1A1, COL1A2
129.0COL1A2, COL1A1
139.0COL1A2, COL1A1
149.0COL1A1, COL1A2
15
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
8.5COL1A2, COL1A1, CD36
16
Show member pathways
8.5COL1A1, CD36, COL1A2
17
Show member pathways
8.5COL1A1, COL1A2, CD36
188.5CD36, COL1A1, COL1A2

Compounds for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 52PharmGKB, 3BitterDB
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Compounds related to Perinatally Lethal Osteogenesis Imperfecta according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1cyanogen bromide469.6CD36, COL1A2
2nppa469.4COL1A2, COL1A1
3hydroxyproline46 25 1211.4COL1A1, CD36
4carbodiimide469.4COL1A2, COL1A1
5nppb30 46 6211.3COL1A1, COL1A2
6ly294002469.3CD36, COL1A2
7xbai469.3COL1A1, COL1A2
8ecori469.3COL1A2, COL1A1
9rsai469.3COL1A1, COL1A2
10glycosaminoglycan469.3CD36, COL1A1
11mspi469.3COL1A2, COL1A1
12simvastatin46 52 62 30 25 1214.1COL1A2, COL1A1
13chloramphenicol46 3 52 1212.0COL1A2, COL1A1
14ribonucleic acid468.9COL1A2, COL1A1
15procollagen468.8COL1A2, COL1A1, CD36
16vitamin d468.8CD36, COL1A2, COL1A1
17estrogen468.7CD36, COL1A2, COL1A1
18cysteine468.7COL1A2, COL1A1, CD36
19serine468.6COL1A2, CD36, COL1A1
20calcium46 52 25 1211.2CD36, COL1A1, COL1A2

GO Terms for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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17Gene Ontology
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Cellular components related to Perinatally Lethal Osteogenesis Imperfecta according to GeneCards/GeneDecks:

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

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.3COL1A2, COL1A1
2protein heterotrimerizationGO:0702089.3COL1A1, COL1A2
3collagen fibril organizationGO:0301999.2COL1A1, COL1A2
4blood vessel developmentGO:0015689.2COL1A1, COL1A2
5cellular response to amino acid stimulusGO:0712309.1COL1A1, COL1A2
6collagen catabolic processGO:0305749.1COL1A2, COL1A1
7extracellular matrix disassemblyGO:0226179.0COL1A1, COL1A2
8extracellular matrix organizationGO:0301989.0COL1A2, COL1A1
9leukocyte migrationGO:0509008.9COL1A2, COL1A1
10platelet activationGO:0301688.7COL1A2, CD36, COL1A1
11skeletal system developmentGO:0015018.7COL1A2, COL1A1
12blood coagulationGO:0075968.7COL1A2, COL1A1, CD36

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

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

Products for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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Sources for Perinatally Lethal Osteogenesis Imperfecta

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4CDC
14ExPASy
15FMA
23GTR
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25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
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31KEGG
36MeSH
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42NDF-RT
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46Novoseek
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49OMIM via Orphanet
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60SNOMED-CT via Orphanet
63UMLS
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