MCID: PRN052
MIFTS: 26

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 68
 
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 ii and osteogenesis imperfecta. An important gene associated with Perinatally Lethal Osteogenesis Imperfecta is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways are Interleukin-4 and 13 signaling and IL4-mediated signaling events. Related mouse phenotypes are adipose tissue and 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:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type ii31.4CD36, COL1A1, COL1A2
2osteogenesis imperfecta11.6
3osteogenesis imperfecta, type viii10.9
4osteogenesis imperfecta, type iv10.9
5osteogenesis imperfecta, type xiii10.9
6osteogenesis imperfecta, type xiv10.9
7osteogenesis imperfecta, type v10.9
8osteogenesis imperfecta, type xv10.9
9hydrocephalus10.0
10cngb3-related stargardt disease 19.9COL1A1, COL1A2
11isolated lissencephaly type 1 without known genetic defects9.9COL1A1, COL1A2
12charcot-marie-tooth neuropathy type 2a9.9COL1A1, COL1A2
13prph2-related retinitis pigmentosa9.9COL1A1, COL1A2
1420p13 microdeletion syndrome9.9COL1A1, COL1A2
15epileptic encephalopathy, early infantile, 369.9COL1A1, COL1A2
16porphyria cutanea tarda9.9COL1A1, COL1A2
17factor xiiia deficiency9.9COL1A1, COL1A2
18osteogenesis imperfecta, type iii9.9COL1A1, COL1A2
19cerebellar ataxia, mental retardation, and dysequilibrium syndrome 29.9COL1A1, COL1A2
20autism susceptibility 169.9COL1A1, COL1A2
21diabetic neuropathy9.9COL1A1, COL1A2
22neuropathy, distal hereditary motor, type iia9.9COL1A1, COL1A2
23splenic flexure cancer9.8COL1A1, COL1A2
24bone structure disease9.8COL1A1, COL1A2
25herpes simplex9.8COL1A1, COL1A2
26clivus meningioma9.8COL1A1, COL1A2
27sclerocornea9.8COL1A1, COL1A2
28phyh-related refsum disease9.7CD36, COL1A1, COL1A2
29human herpesvirus 89.7CD36, COL1A1, COL1A2
30long qt syndrome 19.7CD36, COL1A1, COL1A2
31muscle hypertrophy9.7CD36, COL1A1, COL1A2
32ceroid lipofuscinosis, neuronal, 119.7CD36, COL1A1, COL1A2
33agraphia9.7CD36, COL1A1, COL1A2
34xanthinuria9.7CD36, COL1A1, COL1A2
35deafness, autosomal recessive 619.7CD36, COL1A1, COL1A2
36mental retardation, autosomal recessive 359.7CD36, COL1A1, COL1A2
37ehlers-danlos syndrome, cardiac valvular form9.7CD36, COL1A1, COL1A2
38prostatocystitis9.7CD36, COL1A1, COL1A2
39tinea manuum9.7COL1A1, COL1A2
40carnitine deficiency, systemic primary9.7CD36, COL1A1, COL1A2

Graphical network of the top 20 diseases related to Perinatally Lethal Osteogenesis Imperfecta:



Diseases related to perinatally lethal osteogenesis imperfecta

Symptoms & Phenotypes for Perinatally Lethal Osteogenesis Imperfecta

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MGI Mouse Phenotypes related to Perinatally Lethal Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.2CD36, COL1A1, COL1A2
2MP:00053698.5CD36, COL1A1, COL1A2

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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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
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
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
Parathyroid gland hemorrhage in perinatally lethal osteogenesis imperfecta. (3361382)
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:00055849.8COL1A1, COL1A2
2endoplasmic reticulum lumenGO:00057889.8COL1A1, COL1A2
3collagen trimerGO:00055819.2CD36, COL1A1, COL1A2
4extracellular 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
1blood vessel developmentGO:00015689.7COL1A1, COL1A2
2cellular response to amino acid stimulusGO:00712309.7COL1A1, COL1A2
3collagen catabolic processGO:00305749.7COL1A1, COL1A2
4collagen fibril organizationGO:00301999.7COL1A1, COL1A2
5extracellular matrix organizationGO:00301989.7COL1A1, COL1A2
6leukocyte migrationGO:00509009.7COL1A1, COL1A2
7platelet activationGO:00301689.7COL1A1, COL1A2
8protein heterotrimerizationGO:00702089.7COL1A1, COL1A2
9regulation of immune responseGO:00507769.6COL1A1, COL1A2
10skeletal system developmentGO:00015019.3COL1A1, COL1A2
11blood coagulationGO:00075969.2CD36, COL1A1, COL1A2
12skin morphogenesisGO:00435899.0COL1A1, COL1A2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.6COL1A1, COL1A2
2platelet-derived growth factor bindingGO:00484079.5COL1A1, COL1A2
3protease bindingGO:00020209.0COL1A1, COL1A2

Sources for Perinatally Lethal Osteogenesis Imperfecta

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet