MCID: PRN052
MIFTS: 26

Perinatally Lethal Osteogenesis Imperfecta malady

Categories: Genetic diseases, Bone diseases

Aliases & Classifications for Perinatally Lethal Osteogenesis Imperfecta

Aliases & Descriptions for Perinatally Lethal Osteogenesis Imperfecta:

Name: Perinatally Lethal Osteogenesis Imperfecta 24
Oi Type Ii 24 13
Osteogenesis Imperfecta, Dominant Perinatal Lethal 69
Osteogenesis Imperfecta Type Iia 24
Perinatally Lethal Oi 24
Oi Type Iia 24

Classifications:



Summaries for Perinatally Lethal Osteogenesis Imperfecta

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/superpathways are Integrin Pathway and Vesicle-mediated transport. Related phenotypes are adipose tissue and muscle

Related Diseases for Perinatally Lethal Osteogenesis Imperfecta

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

(show all 40)
id Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type ii 31.4 CD36 COL1A1 COL1A2
2 osteogenesis imperfecta 11.6
3 osteogenesis imperfecta, type viii 10.9
4 osteogenesis imperfecta, type iv 10.9
5 osteogenesis imperfecta, type xiii 10.9
6 osteogenesis imperfecta, type xiv 10.9
7 osteogenesis imperfecta, type v 10.9
8 osteogenesis imperfecta, type xv 10.9
9 hydrocephalus 10.0
10 cngb3-related stargardt disease 1 9.9 COL1A1 COL1A2
11 isolated lissencephaly type 1 without known genetic defects 9.9 COL1A1 COL1A2
12 charcot-marie-tooth neuropathy type 2a 9.9 COL1A1 COL1A2
13 prph2-related retinitis pigmentosa 9.9 COL1A1 COL1A2
14 20p13 microdeletion syndrome 9.9 COL1A1 COL1A2
15 epileptic encephalopathy, early infantile, 36 9.9 COL1A1 COL1A2
16 porphyria cutanea tarda 9.9 COL1A1 COL1A2
17 factor xiiia deficiency 9.9 COL1A1 COL1A2
18 osteogenesis imperfecta, type iii 9.9 COL1A1 COL1A2
19 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 9.9 COL1A1 COL1A2
20 autism susceptibility 16 9.9 COL1A1 COL1A2
21 diabetic neuropathy 9.9 COL1A1 COL1A2
22 neuropathy, distal hereditary motor, type iia 9.9 COL1A1 COL1A2
23 splenic flexure cancer 9.8 COL1A1 COL1A2
24 bone structure disease 9.8 COL1A1 COL1A2
25 herpes simplex 9.8 COL1A1 COL1A2
26 clivus meningioma 9.8 COL1A1 COL1A2
27 sclerocornea 9.8 COL1A1 COL1A2
28 phyh-related refsum disease 9.7 CD36 COL1A1 COL1A2
29 human herpesvirus 8 9.7 CD36 COL1A1 COL1A2
30 long qt syndrome 1 9.7 CD36 COL1A1 COL1A2
31 muscle hypertrophy 9.7 CD36 COL1A1 COL1A2
32 ceroid lipofuscinosis, neuronal, 11 9.7 CD36 COL1A1 COL1A2
33 agraphia 9.7 CD36 COL1A1 COL1A2
34 xanthinuria 9.7 CD36 COL1A1 COL1A2
35 deafness, autosomal recessive 61 9.7 CD36 COL1A1 COL1A2
36 mental retardation, autosomal recessive 35 9.7 CD36 COL1A1 COL1A2
37 ehlers-danlos syndrome, cardiac valvular form 9.7 CD36 COL1A1 COL1A2
38 prostatocystitis 9.7 CD36 COL1A1 COL1A2
39 tinea manuum 9.7 COL1A1 COL1A2
40 carnitine deficiency, systemic primary 9.7 CD36 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

MGI Mouse Phenotypes related to Perinatally Lethal Osteogenesis Imperfecta:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.13 CD36 COL1A1 COL1A2
2 muscle MP:0005369 8.8 CD36 COL1A1 COL1A2

Drugs & Therapeutics for Perinatally Lethal Osteogenesis Imperfecta

Search Clinical Trials , NIH Clinical Center for Perinatally Lethal Osteogenesis Imperfecta

Genetic Tests for Perinatally Lethal Osteogenesis Imperfecta

Genetic tests related to Perinatally Lethal Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Perinatally Lethal Osteogenesis Imperfecta 24 COL1A2

Anatomical Context for Perinatally Lethal Osteogenesis Imperfecta

Publications for Perinatally Lethal Osteogenesis Imperfecta

Articles related to Perinatally Lethal Osteogenesis Imperfecta:

id Title Authors Year
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

Expression for Perinatally Lethal Osteogenesis Imperfecta

Search GEO for disease gene expression data for Perinatally Lethal Osteogenesis Imperfecta.

Pathways for Perinatally Lethal Osteogenesis Imperfecta

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

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 CD36 COL1A1 COL1A2
2
Show member pathways
12.82 CD36 COL1A1 COL1A2
3 11.61 COL1A1 COL1A2
4 11.57 CD36 COL1A2
5
Show member pathways
11.51 CD36 COL1A1 COL1A2
6 11.49 COL1A1 COL1A2
7 11.46 COL1A1 COL1A2
8 11.26 COL1A1 COL1A2
9 11.22 COL1A1 COL1A2
10
Show member pathways
11.15 CD36 COL1A1 COL1A2
11 11.01 COL1A1 COL1A2
12 10.96 COL1A1 COL1A2
13 10.84 COL1A1 COL1A2
14 10.62 COL1A1 COL1A2
15 10.51 CD36 COL1A1 COL1A2

GO Terms for Perinatally Lethal Osteogenesis Imperfecta

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.33 CD36 COL1A1 COL1A2
2 endoplasmic reticulum lumen GO:0005788 9.26 COL1A1 COL1A2
3 collagen trimer GO:0005581 9.13 CD36 COL1A1 COL1A2
4 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.51 COL1A1 COL1A2
2 extracellular matrix organization GO:0030198 9.49 COL1A1 COL1A2
3 regulation of immune response GO:0050776 9.48 COL1A1 COL1A2
4 skeletal system development GO:0001501 9.46 COL1A1 COL1A2
5 platelet activation GO:0030168 9.43 COL1A1 COL1A2
6 collagen catabolic process GO:0030574 9.4 COL1A1 COL1A2
7 cellular response to amino acid stimulus GO:0071230 9.37 COL1A1 COL1A2
8 blood vessel development GO:0001568 9.32 COL1A1 COL1A2
9 collagen fibril organization GO:0030199 9.26 COL1A1 COL1A2
10 protein heterotrimerization GO:0070208 9.16 COL1A1 COL1A2
11 blood coagulation GO:0007596 9.13 CD36 COL1A1 COL1A2
12 skin morphogenesis GO:0043589 8.62 COL1A1 COL1A2

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

id Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.16 COL1A1 COL1A2
2 extracellular matrix structural constituent GO:0005201 8.96 COL1A1 COL1A2
3 platelet-derived growth factor binding GO:0048407 8.62 COL1A1 COL1A2

Sources for Perinatally Lethal Osteogenesis Imperfecta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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