MCID: PRN052
MIFTS: 25

Perinatally Lethal Osteogenesis Imperfecta malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Perinatally Lethal Osteogenesis Imperfecta

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Aliases & Descriptions for Perinatally Lethal Osteogenesis Imperfecta:

Name: Perinatally Lethal Osteogenesis Imperfecta 24
Oi Type Ii 24 12
Osteogenesis Imperfecta, Dominant Perinatal Lethal 67
 
Osteogenesis Imperfecta Type Iia 24
Perinatally Lethal Oi 24
Oi Type Iia 24

Classifications:



Summaries for Perinatally Lethal Osteogenesis Imperfecta

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MalaCards based summary: Perinatally Lethal Osteogenesis Imperfecta, also known as oi type ii, is related to osteogenesis imperfecta, type iv and osteogenesis imperfecta, type ii. An important gene associated with Perinatally Lethal Osteogenesis Imperfecta is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways are Protein digestion and absorption and IL4-mediated signaling events. Related mouse phenotypes are adipose tissue and muscle.

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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Interventional clinical trials:

Search ClinicalTrials, 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 Imperfecta24 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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.2CD36, COL1A1, COL1A2
2MP:00053698.5CD36, COL1A1, COL1A2

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
Parathyroid gland hemorrhage in perinatally lethal osteogenesis imperfecta. (3361382)
1988
8
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
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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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
1collagen type I trimerGO:00055849.6COL1A1, COL1A2
2collagen trimerGO:00055819.5COL1A1, COL1A2
3endoplasmic reticulum lumenGO:00057889.1COL1A1, COL1A2
4extracellular matrixGO:00310129.1COL1A1, COL1A2
5extracellular spaceGO:00056158.5CD36, COL1A1, COL1A2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:00435899.6COL1A1, COL1A2
2protein heterotrimerizationGO:00702089.5COL1A1, COL1A2
3regulation of immune responseGO:00507769.4COL1A1, COL1A2
4collagen catabolic processGO:00305749.4COL1A1, COL1A2
5blood vessel developmentGO:00015689.4COL1A1, COL1A2
6platelet activationGO:00301689.3COL1A1, COL1A2
7skeletal system developmentGO:00015019.3COL1A1, COL1A2
8leukocyte migrationGO:00509009.1COL1A1, COL1A2
9collagen fibril organizationGO:00301999.1COL1A1, COL1A2
10cellular response to amino acid stimulusGO:00712309.0COL1A1, COL1A2
11extracellular matrix organizationGO:00301988.7COL1A1, COL1A2
12blood coagulationGO:00075968.5CD36, COL1A1, COL1A2

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

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

Sources for Perinatally Lethal Osteogenesis Imperfecta

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet