MCID: PRN052
MIFTS: 26

Perinatally Lethal Osteogenesis Imperfecta malady

Genetic diseases (common), Bone diseases categories

Aliases & Classifications for Perinatally Lethal Osteogenesis Imperfecta

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Aliases & Descriptions for Perinatally Lethal Osteogenesis Imperfecta:

Name: Perinatally Lethal Osteogenesis Imperfecta 20


Classifications:



Summaries for Perinatally Lethal Osteogenesis Imperfecta

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MalaCards based summary: Perinatally Lethal Osteogenesis Imperfecta is related to osteogenesis imperfecta and hydrocephalus. 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.

Related Diseases for Perinatally Lethal Osteogenesis Imperfecta

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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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Drug clinical trials:

Search ClinicalTrials for Perinatally Lethal Osteogenesis Imperfecta

Search NIH Clinical Center for Perinatally Lethal Osteogenesis Imperfecta

Genetic Tests for Perinatally Lethal Osteogenesis Imperfecta

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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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MGI Mouse Phenotypes related to Perinatally Lethal Osteogenesis Imperfecta:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5CD36, COL1A2, COL1A1
2MP:00053868.5CD36, COL1A2, COL1A1
3MP:00053908.4CD36, COL1A2, COL1A1
4MP:00053858.2COL1A1, COL1A2, CD36

Publications for Perinatally Lethal Osteogenesis Imperfecta

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Articles related to Perinatally Lethal Osteogenesis Imperfecta:

idTitleAuthorsYear
1
Perinatal lethal osteogenesis imperfecta in a Thai newborn: the autopsy and histopathogical findings. (23964465)
2012
2
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance. (21239989)
2011
3
Perinatal lethal osteogenesis imperfecta. (7643358)
1995
4
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen. (7959683)
1994
5
RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation. (2470760)
1989
6
Hydrocephalus of intrauterine onset in perinatally lethal osteogenesis imperfecta: clinical, sonographic, and pathologic correlations. (3062601)
1988
7
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
8
Parathyroid gland hemorrhage in perinatally lethal osteogenesis imperfecta. (3361382)
1988
9
Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. (3341380)
1988
10
Prenatal diagnosis of perinatally lethal osteogenesis imperfecta. (6837630)
1983

Variations for Perinatally Lethal Osteogenesis Imperfecta

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Expression for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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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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Pathways related to Perinatally Lethal Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

(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
Metalloproteases in connective tissue degradation
9.0COL1A2, COL1A1
4
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility59
Cytoskeleton remodeling Integrin outside in signaling59
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases59
Cell adhesion Tight junctions59
Development MAG dependent inhibition of neurite outgrowth59
9.0COL1A1, COL1A2
5
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
9.0COL1A2, COL1A1
69.0COL1A2, COL1A1
7
Show member pathways
9.0COL1A2, COL1A1
8
Show member pathways
Cytoskeleton remodeling FAK signaling59
Development Endothelin 1 EDNRA transactivation of EGFR59
9.0COL1A2, COL1A1
99.0COL1A2, COL1A1
109.0COL1A1, COL1A2
119.0COL1A2, COL1A1
12
Show member pathways
9.0COL1A1, COL1A2
139.0COL1A2, COL1A1
149.0COL1A2, COL1A1
15
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
8.5CD36, COL1A2, COL1A1
168.5CD36, COL1A2, COL1A1
17
Show member pathways
8.5COL1A1, COL1A2, CD36
18
Show member pathways
8.5COL1A1, COL1A2, CD36

Compounds for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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Compounds related to Perinatally Lethal Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 20)
idCompoundScoreTop Affiliating Genes
1cyanogen bromide449.6CD36, COL1A2
2nppa449.4COL1A2, COL1A1
3hydroxyproline44 24 1111.4COL1A1, CD36
4carbodiimide449.4COL1A1, COL1A2
5nppb28 44 6011.3COL1A1, COL1A2
6ly294002449.3CD36, COL1A2
7xbai449.3COL1A2, COL1A1
8ecori449.3COL1A1, COL1A2
9rsai449.3COL1A2, COL1A1
10glycosaminoglycan449.3CD36, COL1A1
11mspi449.3COL1A2, COL1A1
12simvastatin44 50 60 28 24 1114.1COL1A2, COL1A1
13chloramphenicol44 1 50 1112.0COL1A2, COL1A1
14ribonucleic acid448.9COL1A2, COL1A1
15procollagen448.8CD36, COL1A2, COL1A1
16vitamin d448.8CD36, COL1A2, COL1A1
17estrogen448.7CD36, COL1A2, COL1A1
18cysteine448.7COL1A1, COL1A2, CD36
19serine448.6COL1A1, COL1A2, CD36
20calcium44 50 24 1111.2COL1A1, COL1A2, CD36

GO Terms for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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Cellular components related to Perinatally Lethal Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:00057889.0COL1A2, COL1A1
2collagen type IGO:00055848.9COL1A2, COL1A1
3extracellular matrixGO:00310128.7COL1A2, COL1A1

Biological processes related to Perinatally Lethal Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:00435899.3COL1A2, COL1A1
2protein heterotrimerizationGO:00702089.3COL1A1, COL1A2
3collagen fibril organizationGO:00301999.2COL1A1, COL1A2
4blood vessel developmentGO:00015689.2COL1A1, COL1A2
5cellular response to amino acid stimulusGO:00712309.1COL1A2, COL1A1
6collagen catabolic processGO:00305749.1COL1A2, COL1A1
7extracellular matrix disassemblyGO:00226179.0COL1A1, COL1A2
8extracellular matrix organizationGO:00301989.0COL1A2, COL1A1
9leukocyte migrationGO:00509008.9COL1A2, COL1A1
10platelet activationGO:00301688.7CD36, COL1A2, COL1A1
11skeletal system developmentGO:00015018.7COL1A2, COL1A1
12blood coagulationGO:00075968.7CD36, COL1A2, COL1A1

Molecular functions related to Perinatally Lethal Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.0COL1A2, COL1A1
2platelet-derived growth factor bindingGO:00484078.7COL1A2, COL1A1

Sources for Perinatally Lethal Osteogenesis Imperfecta

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet