MCID: PRN052
MIFTS: 26

Perinatally Lethal Osteogenesis Imperfecta malady

Genetic diseases (common), Bone diseases categories

Aliases & Classifications for Perinatally Lethal Osteogenesis Imperfecta

About this section

Perinatally Lethal Osteogenesis Imperfecta, Aliases & Descriptions:

Name: Perinatally Lethal Osteogenesis Imperfecta 20


Classifications:

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


Summaries for Perinatally Lethal Osteogenesis Imperfecta

About this section


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

About this section

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

About this section

Drugs & Therapeutics for Perinatally Lethal Osteogenesis Imperfecta

About this section

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

About this section

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

About this section

Animal Models for Perinatally Lethal Osteogenesis Imperfecta or affiliated genes

About this section

MGI Mouse Phenotypes related to Perinatally Lethal Osteogenesis Imperfecta:

35
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

About this section

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

About this section

Expression for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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

Pathways for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

About this section

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 motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.0COL1A1, COL1A2
5
Show member pathways
Development EDNRB signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
9.0COL1A2, COL1A1
69.0COL1A2, COL1A1
7
Show member pathways
9.0COL1A2, COL1A1
8
Show member pathways
Cytoskeleton remodeling FAK signaling58
Development Endothelin 1 EDNRA transactivation of EGFR58
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

About this section

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

(show all 20)
idCompoundScoreTop Affiliating Genes
1cyanogen bromide439.6CD36, COL1A2
2nppa439.4COL1A2, COL1A1
3hydroxyproline43 24 1211.4COL1A1, CD36
4carbodiimide439.4COL1A1, COL1A2
5nppb28 43 5911.3COL1A1, COL1A2
6ly294002439.3CD36, COL1A2
7xbai439.3COL1A2, COL1A1
8ecori439.3COL1A1, COL1A2
9rsai439.3COL1A2, COL1A1
10glycosaminoglycan439.3CD36, COL1A1
11mspi439.3COL1A2, COL1A1
12simvastatin43 49 59 28 24 1214.1COL1A2, COL1A1
13chloramphenicol43 2 49 1212.0COL1A2, COL1A1
14ribonucleic acid438.9COL1A2, COL1A1
15procollagen438.8CD36, COL1A2, COL1A1
16vitamin d438.8CD36, COL1A2, COL1A1
17estrogen438.7CD36, COL1A2, COL1A1
18cysteine438.7COL1A1, COL1A2, CD36
19serine438.6COL1A1, COL1A2, CD36
20calcium43 49 24 1211.2COL1A1, COL1A2, CD36

GO Terms for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

About this section

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

Products for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Perinatally Lethal Osteogenesis Imperfecta

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet