MCID: PRN052
MIFTS: 17

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 22
Osteogenesis Imperfecta, Dominant Perinatal Lethal 65
Osteogenesis Imperfecta Type Iia 22
 
Perinatally Lethal Oi 22
Oi Type Iia 22
Oi Type Ii 22

Classifications:



External Ids:

UMLS65 C0268358

Summaries for Perinatally Lethal Osteogenesis Imperfecta

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MalaCards based summary: Perinatally Lethal Osteogenesis Imperfecta, also known as osteogenesis imperfecta, dominant perinatal lethal, is related to osteogenesis imperfecta, type ii and osteogenesis imperfecta. An important gene associated with Perinatally Lethal Osteogenesis Imperfecta is COL1A2 (Collagen Type I Alpha 2). Affiliated tissues include t cells, bone and smooth muscle.

Related Diseases for Perinatally Lethal Osteogenesis Imperfecta

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Diseases related to Perinatally Lethal Osteogenesis Imperfecta via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type ii11.1
2osteogenesis imperfecta10.6
3hydrocephalus10.1

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 Imperfecta22 COL1A2

Anatomical Context for Perinatally Lethal Osteogenesis Imperfecta

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MalaCards organs/tissues related to Perinatally Lethal Osteogenesis Imperfecta:

33
T cells, Bone, Smooth muscle

Animal Models for Perinatally Lethal Osteogenesis Imperfecta or affiliated genes

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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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GO Terms for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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Sources for Perinatally Lethal Osteogenesis Imperfecta

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet