MCID: PRG091
MIFTS: 22

Progressively Deforming Osteogenesis Imperfecta malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Progressively Deforming Osteogenesis Imperfecta

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Aliases & Descriptions for Progressively Deforming Osteogenesis Imperfecta:

Name: Progressively Deforming Osteogenesis Imperfecta 24
Osteogenesis Imperfecta Type Iii 24 68
 
Progressively Deforming Oi 24
Oi Type Iii 24

Classifications:



Summaries for Progressively Deforming Osteogenesis Imperfecta

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MalaCards based summary: Progressively Deforming Osteogenesis Imperfecta, also known as osteogenesis imperfecta type iii, is related to osteogenesis imperfecta, type iii and osteogenesis imperfecta. An important gene associated with Progressively Deforming Osteogenesis Imperfecta is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways are AGE-RAGE signaling pathway in diabetic complications and Amoebiasis.

Related Diseases for Progressively Deforming Osteogenesis Imperfecta

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

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iii32.1COL1A1, COL1A2
2osteogenesis imperfecta10.2
3cngb3-related stargardt disease 110.0COL1A1, COL1A2
4isolated lissencephaly type 1 without known genetic defects10.0COL1A1, COL1A2
5charcot-marie-tooth neuropathy type 2a10.0COL1A1, COL1A2
620p13 microdeletion syndrome10.0COL1A1, COL1A2
7phyh-related refsum disease10.0COL1A1, COL1A2
8epileptic encephalopathy, early infantile, 3610.0COL1A1, COL1A2
9porphyria cutanea tarda10.0COL1A1, COL1A2
10factor xiiia deficiency10.0COL1A1, COL1A2
11human herpesvirus 810.0COL1A1, COL1A2
12long qt syndrome 19.9COL1A1, COL1A2
13muscle hypertrophy9.9COL1A1, COL1A2
14diabetic neuropathy9.9COL1A1, COL1A2
15ceroid lipofuscinosis, neuronal, 119.9COL1A1, COL1A2
16agraphia9.9COL1A1, COL1A2
17neuropathy, distal hereditary motor, type iia9.9COL1A1, COL1A2
18deafness, autosomal recessive 619.9COL1A1, COL1A2
19splenic flexure cancer9.9COL1A1, COL1A2
20mental retardation, autosomal recessive 359.9COL1A1, COL1A2
21bone structure disease9.9COL1A1, COL1A2
22herpes simplex9.8COL1A1, COL1A2
23clivus meningioma9.8COL1A1, COL1A2
24sclerocornea9.8COL1A1, COL1A2
25prph2-related retinitis pigmentosa9.7COL1A1, COL1A2, SERPINF1
26cerebellar ataxia, mental retardation, and dysequilibrium syndrome 29.7COL1A1, COL1A2, SERPINF1
27autism susceptibility 169.7COL1A1, COL1A2, SERPINF1
28xanthinuria9.7COL1A1, COL1A2, SERPINF1
29osteogenesis imperfecta, type ii9.7COL1A1, COL1A2, SERPINF1
30ehlers-danlos syndrome, cardiac valvular form9.7COL1A1, COL1A2, SERPINF1
31prostatocystitis9.7COL1A1, COL1A2, SERPINF1
32tinea manuum9.7COL1A1, COL1A2

Graphical network of the top 20 diseases related to Progressively Deforming Osteogenesis Imperfecta:



Diseases related to progressively deforming osteogenesis imperfecta

Symptoms & Phenotypes for Progressively Deforming Osteogenesis Imperfecta

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Drugs & Therapeutics for Progressively Deforming Osteogenesis Imperfecta

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Progressively Deforming Osteogenesis Imperfecta

Genetic Tests for Progressively Deforming Osteogenesis Imperfecta

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Genetic tests related to Progressively Deforming Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Progressively Deforming Osteogenesis Imperfecta24 COL1A2

Anatomical Context for Progressively Deforming Osteogenesis Imperfecta

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Publications for Progressively Deforming Osteogenesis Imperfecta

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Articles related to Progressively Deforming Osteogenesis Imperfecta:

idTitleAuthorsYear
1
Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen. (22113968)
2012
2
Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: a case of autosomal dominant transmission. (1788177)
1991
3
Genetic counselling in perinatally lethal and severe progressively deforming osteogenesis imperfecta. (3214049)
1988

Variations for Progressively Deforming Osteogenesis Imperfecta

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Expression for genes affiliated with Progressively Deforming Osteogenesis Imperfecta

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Search GEO for disease gene expression data for Progressively Deforming Osteogenesis Imperfecta.

Pathways for genes affiliated with Progressively Deforming Osteogenesis Imperfecta

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GO Terms for genes affiliated with Progressively Deforming Osteogenesis Imperfecta

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Cellular components related to Progressively Deforming Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen trimerGO:000558110.1COL1A1, COL1A2
2collagen type I trimerGO:000558410.1COL1A1, COL1A2
3endoplasmic reticulum lumenGO:000578810.1COL1A1, COL1A2
4extracellular matrixGO:00310129.2COL1A1, COL1A2, SERPINF1
5extracellular spaceGO:00056158.5COL1A1, COL1A2, SERPINF1

Biological processes related to Progressively Deforming Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:000759610.0COL1A1, COL1A2
2blood vessel developmentGO:000156810.0COL1A1, COL1A2
3cellular response to amino acid stimulusGO:007123010.0COL1A1, COL1A2
4collagen catabolic processGO:003057410.0COL1A1, COL1A2
5collagen fibril organizationGO:003019910.0COL1A1, COL1A2
6extracellular matrix organizationGO:003019810.0COL1A1, COL1A2
7leukocyte migrationGO:005090010.0COL1A1, COL1A2
8platelet activationGO:003016810.0COL1A1, COL1A2
9protein heterotrimerizationGO:007020810.0COL1A1, COL1A2
10regulation of immune responseGO:00507769.9COL1A1, COL1A2
11cellular response to retinoic acidGO:00713009.8COL1A1, SERPINF1
12skeletal system developmentGO:00015019.6COL1A1, COL1A2
13skin morphogenesisGO:00435899.3COL1A1, COL1A2

Molecular functions related to Progressively Deforming Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.9COL1A1, COL1A2
2platelet-derived growth factor bindingGO:00484079.8COL1A1, COL1A2
3protease bindingGO:00020209.3COL1A1, COL1A2

Sources for Progressively Deforming 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