MCID: PRN052
MIFTS: 26

Perinatally Lethal Osteogenesis Imperfecta malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Perinatally Lethal Osteogenesis Imperfecta

About this section

Aliases & Descriptions for Perinatally Lethal Osteogenesis Imperfecta:

Name: Perinatally Lethal Osteogenesis Imperfecta 23
Oi Type Ii 23 12
Osteogenesis Imperfecta, Dominant Perinatal Lethal 66
 
Osteogenesis Imperfecta Type Iia 23
Perinatally Lethal Oi 23
Oi Type Iia 23

Classifications:



Summaries for Perinatally Lethal Osteogenesis Imperfecta

About this section
MalaCards based summary: Perinatally Lethal Osteogenesis Imperfecta, also known as oi type ii, 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 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

About this section

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

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type ii30.7CD36, COL1A1, COL1A2
2osteogenesis imperfecta, type iv29.7COL1A1, COL1A2
3osteogenesis imperfecta11.7
4osteogenesis imperfecta, type viii10.2
5osteogenesis imperfecta, type xiii10.2
6osteogenesis imperfecta, type xiv10.2
7osteogenesis imperfecta, type v10.2
8osteogenesis imperfecta, type xv10.2
9hydrocephalus10.1
10infundibulo-neurohypophysitis9.7COL1A1, COL1A2
11contractures-webbed neck-micrognathia-hypoplastic nipples syndrome9.7COL1A1, COL1A2
12elliptocytosis 39.7COL1A1, COL1A2
13deafness, autosomal recessive 919.7COL1A1, COL1A2
14ehlers-danlos syndrome, classic type9.6COL1A1, COL1A2
15descending colon cancer9.6COL1A1, COL1A2
16diabetic foot ulcers9.6COL1A1, COL1A2
17hodgkin's lymphoma, lymphocytic-histiocytic predominance9.5COL1A1, COL1A2
18ischemic bone disease9.5COL1A1, COL1A2
19vulvovaginal candidiasis9.4COL1A1, COL1A2
20tinea profunda9.4COL1A1, COL1A2
21fetishism9.3COL1A1, COL1A2
22pex7-related refsum disease9.3CD36, COL1A1, COL1A2
23mental retardation, autosomal recessive 359.2CD36, COL1A1, COL1A2
24ehlers-danlos syndrome, cardiac valvular form9.2CD36, COL1A1, COL1A2
25osteogenesis imperfecta, type iii9.2CD36, COL1A1, COL1A2
26ceroid lipofuscinosis, neuronal, 119.2CD36, COL1A1, COL1A2
27carnitine palmitoyltransferase ii deficiency9.2CD36, COL1A1, COL1A2
28sclerosteosis9.1COL1A1, COL1A2
29chylomicron retention disease9.1CD36, COL1A1, 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

About this section

Drugs & Therapeutics for Perinatally Lethal Osteogenesis Imperfecta

About this section

Interventional clinical trials:

Search ClinicalTrials, 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 Imperfecta23 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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.5CD36, COL1A1, COL1A2
2MP:00053698.2CD36, COL1A1, COL1A2

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
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

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

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
1collagen type I trimerGO:00055849.6COL1A1, COL1A2
2collagen trimerGO:00055819.5COL1A1, COL1A2
3extracellular matrixGO:00310129.1COL1A1, COL1A2
4endoplasmic reticulum lumenGO:00057889.0COL1A1, 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:00435899.5COL1A1, COL1A2
2protein heterotrimerizationGO:00702089.5COL1A1, COL1A2
3collagen catabolic processGO:00305749.4COL1A1, COL1A2
4regulation of immune responseGO:00507769.4COL1A1, COL1A2
5platelet activationGO:00301689.3COL1A1, COL1A2
6blood vessel developmentGO:00015689.3COL1A1, COL1A2
7collagen fibril organizationGO:00301999.2COL1A1, COL1A2
8skeletal system developmentGO:00015019.2COL1A1, COL1A2
9extracellular matrix organizationGO:00301989.2COL1A1, COL1A2
10cellular response to amino acid stimulusGO:00712309.1COL1A1, COL1A2
11leukocyte migrationGO:00509008.7COL1A1, 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
1platelet-derived growth factor bindingGO:00484079.0COL1A1, COL1A2
2extracellular matrix structural constituentGO:00052019.0COL1A1, COL1A2

Sources for Perinatally Lethal Osteogenesis Imperfecta

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet