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 22
Osteogenesis Imperfecta Type 2a 22
Perinatally Lethal Oi 22
 
Oi Type Iia 22
Oi Type Ii 22


Classifications:



Summaries for Perinatally Lethal Osteogenesis Imperfecta

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MalaCards based summary: Perinatally Lethal Osteogenesis Imperfecta, also known as osteogenesis imperfecta type 2a, is related to osteogenesis imperfecta, type ii and osteogenesis imperfecta, type iv. An important gene associated with Perinatally Lethal Osteogenesis Imperfecta is COL1A2 (Collagen, Type I, Alpha 2), and among its related pathways are Platelet activation and Cell adhesion_ECM remodeling. Affiliated tissues include bone, and related mouse phenotypes are muscle and skeleton.

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:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type ii30.2CD36, COL1A1, COL1A2
2osteogenesis imperfecta, type iv29.8CD36, COL1A1, COL1A2
3osteogenesis imperfecta10.9
4osteogenesis imperfecta type 2a10.6
5hydrocephalus10.4
6osteogenesis imperfecta, type viii10.2
7osteogenesis imperfecta, type xiii10.2
8osteogenesis imperfecta, type xiv10.2
9osteogenesis imperfecta, type v10.2
10osteogenesis imperfecta, type xv10.2
11ectopia lentis, familial10.0CD36, COL1A2
12osteolysis syndrome recessive9.9COL1A1, COL1A2
13classic rett syndrome9.9COL1A1, COL1A2
14congenital trigeminal anesthesia9.9COL1A1, COL1A2
15idiopathic linear interstitial keratitis9.9COL1A1, COL1A2
16col4a1-related disorders9.9COL1A1, COL1A2
17eif4g1-related parkinson disease9.9COL1A1, COL1A2
18larsen-like syndrome9.9COL1A1, COL1A2
19ehlers-danlos syndrome, type viib9.9COL1A1, COL1A2
20autosomal dominant microcephaly9.9COL1A1, COL1A2
21splenic flexure cancer9.9COL1A1, COL1A2
22depressed scar9.9COL1A1, COL1A2
23anterior cruciate ligament tears9.9COL1A1, COL1A2
24osteomyelitis9.8COL1A1, COL1A2
25sclerosing hemangioma9.8COL1A1, COL1A2
26scrotal carcinoma9.8COL1A1, COL1A2
27colon adenocarcinoma9.8COL1A1, COL1A2
28bone ewing's sarcoma9.8COL1A1, COL1A2
29constipation9.8COL1A1, COL1A2
30deafness, x-linked 69.7COL1A1, COL1A2
31pervasive developmental disorder not otherwise specified9.7CD36, COL1A1, COL1A2
32caffey disease9.7CD36, COL1A1, COL1A2
33mental retardation, autosomal recessive 359.7CD36, COL1A1, COL1A2
34osteogenesis imperfecta, type iii9.7CD36, COL1A1, COL1A2
35cogan-reese syndrome9.7CD36, COL1A1, COL1A2
36ehlers-danlos syndrome, classic type9.7CD36, COL1A1, COL1A2
37xanthinuria9.7CD36, COL1A1, COL1A2
38sapho syndrome9.7CD36, COL1A1, COL1A2
39osteoporosis9.7CD36, COL1A1, COL1A2
40ehrlichiosis9.6COL1A1, COL1A2

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 Imperfecta22 COL1A2

Anatomical Context for Perinatally Lethal Osteogenesis Imperfecta

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MalaCards organs/tissues related to Perinatally Lethal Osteogenesis Imperfecta:

33
Bone

Animal Models for Perinatally Lethal Osteogenesis Imperfecta or affiliated genes

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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:00053908.4CD36, 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
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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Cellular components related to Perinatally Lethal Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:00055849.7COL1A1, COL1A2
2collagen trimerGO:00055819.0COL1A1, COL1A2
3endoplasmic reticulum lumenGO:00057888.9COL1A1, COL1A2
4extracellular matrixGO:00310128.7COL1A1, COL1A2
5extracellular spaceGO:00056158.5CD36, COL1A1, COL1A2

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:00435899.7COL1A1, COL1A2
2protein heterotrimerizationGO:00702089.5COL1A1, COL1A2
3leukocyte migrationGO:00509009.5COL1A1, COL1A2
4skeletal system developmentGO:00015019.4COL1A1, COL1A2
5blood vessel developmentGO:00015689.4COL1A1, COL1A2
6collagen fibril organizationGO:00301999.4COL1A1, COL1A2
7regulation of immune responseGO:00507769.4COL1A1, COL1A2
8extracellular matrix disassemblyGO:00226179.3COL1A1, COL1A2
9collagen catabolic processGO:00305749.3COL1A1, COL1A2
10cellular response to amino acid stimulusGO:00712309.3COL1A1, COL1A2
11receptor-mediated endocytosisGO:00068988.8CD36, COL1A1, COL1A2
12platelet activationGO:00301688.5CD36, COL1A1, COL1A2
13blood coagulationGO:00075968.2CD36, COL1A1, COL1A2

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.0COL1A1, COL1A2
2extracellular matrix structural constituentGO:00052018.7COL1A1, COL1A2

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