MCID: PRG091
MIFTS: 13

Progressively Deforming Osteogenesis Imperfecta malady

Genetic diseases (common), Bone diseases categories

Summaries for Progressively Deforming Osteogenesis Imperfecta

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34MalaCards
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MalaCards: Progressively Deforming Osteogenesis Imperfecta, also known as multiple sclerosis, progressive relapsing, is related to osteogenesis imperfecta and osteogenesis imperfecta type iii. An important gene associated with Progressively Deforming Osteogenesis Imperfecta is COL1A2 (collagen, type I, alpha 2). The compound cysteine have been mentioned in the context of this disorder.

Aliases & Classifications for Progressively Deforming Osteogenesis Imperfecta

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21GeneTests, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Bone diseases


Aliases & Descriptions:

progressively deforming osteogenesis imperfecta 21
multiple sclerosis, progressive relapsing 63


Related Diseases for Progressively Deforming Osteogenesis Imperfecta

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Progressively Deforming Osteogenesis Imperfecta via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta30.4COL1A2, SERPINF1
2osteogenesis imperfecta type iii10.5

Symptoms for Progressively Deforming Osteogenesis Imperfecta

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Drugs & Therapeutics for Progressively Deforming Osteogenesis Imperfecta

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Progressively Deforming Osteogenesis Imperfecta

Drug clinical trials:

Search ClinicalTrials for Progressively Deforming Osteogenesis Imperfecta

Search NIH Clinical Center for Progressively Deforming Osteogenesis Imperfecta

Search CenterWatch for Progressively Deforming Osteogenesis Imperfecta

Genetic Tests for Progressively Deforming Osteogenesis Imperfecta

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21GeneTests
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Genetic tests related to Progressively Deforming Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Progressively Deforming Osteogenesis Imperfecta21 COL1A2

Anatomical Context for Progressively Deforming Osteogenesis Imperfecta

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Animal Models for Progressively Deforming Osteogenesis Imperfecta or affiliated genes

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Publications for Progressively Deforming Osteogenesis Imperfecta

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53PubMed
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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

Variations for Progressively Deforming Osteogenesis Imperfecta

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Expression for genes affiliated with Progressively Deforming Osteogenesis Imperfecta

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Progressively Deforming Osteogenesis Imperfecta

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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Compounds for genes affiliated with Progressively Deforming Osteogenesis Imperfecta

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46Novoseek
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Compounds related to Progressively Deforming Osteogenesis Imperfecta according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cysteine469.1COL1A2, SERPINF1

GO Terms for genes affiliated with Progressively Deforming Osteogenesis Imperfecta

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Sources:
17Gene Ontology
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Cellular components related to Progressively Deforming Osteogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.1COL1A2, SERPINF1
2extracellular matrixGO:0310128.8COL1A2, SERPINF1

Products for genes affiliated with Progressively Deforming Osteogenesis Imperfecta

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Progressively Deforming Osteogenesis Imperfecta

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet