MCID: PRG091
MIFTS: 14

Progressively Deforming Osteogenesis Imperfecta malady

Genetic diseases (common), Bone diseases categories
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Summaries for Progressively Deforming Osteogenesis Imperfecta

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MalaCards based summary: Progressively Deforming Osteogenesis Imperfecta 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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Progressively Deforming Osteogenesis Imperfecta, Aliases & Descriptions:

Name: Progressively Deforming Osteogenesis Imperfecta 20


Classifications:

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


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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta30.7COL1A2, SERPINF1
2osteogenesis imperfecta type iii10.6

Symptoms for Progressively Deforming Osteogenesis Imperfecta

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Drugs & Therapeutics for Progressively Deforming Osteogenesis Imperfecta

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Drug clinical trials:

Search ClinicalTrials for Progressively Deforming Osteogenesis Imperfecta

Search 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 Imperfecta20 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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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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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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Sources:
44Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1cysteine449.1COL1A2, SERPINF1

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/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

Sources for Progressively Deforming Osteogenesis Imperfecta

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet