MCID: PRG091
MIFTS: 21

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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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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Clinvar genetic disease variations for Progressively Deforming Osteogenesis Imperfecta:

5 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A2NM_000089.3(COL1A2): c.4001_4004delATAA (p.Asn1334Serfs)deletionPathogenicrs72659345GRCh37Chr 7, 94059605: 94059608
2COL1A2NM_000089.3(COL1A2): c.775G> T (p.Gly259Cys)SNVPathogenicrs121912905GRCh37Chr 7, 94038118: 94038118
3COL1A2NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val)SNVPathogenicrs121912907GRCh37Chr 7, 94044575: 94044575
4COL1A2COL1A2, VAL255DELdeletionPathogenicChr na, -1: -1
5COL1A2NM_000089.3(COL1A2): c.2575G> A (p.Gly859Ser)SNVPathogenicrs72658200GRCh37Chr 7, 94053657: 94053657
6COL1A2NM_000089.3(COL1A2): c.3017G> C (p.Gly1006Ala)SNVPathogenicrs121912911GRCh37Chr 7, 94055754: 94055754
7COL1A2NM_000089.3(COL1A2): c.2251G> A (p.Gly751Ser)SNVPathogenicrs72658176GRCh37Chr 7, 94049916: 94049916
8COL1A2NM_000089.3(COL1A2): c.1099G> T (p.Gly367Trp)SNVPathogenicrs72656402GRCh37Chr 7, 94039741: 94039741
9COL1A2NM_000089.3(COL1A2): c.3269G> A (p.Gly1090Asp)SNVPathogenicrs267606742GRCh37Chr 7, 94056940: 94056940
10COL1A2NM_000089.3(COL1A2): c.3295G> A (p.Gly1099Arg)SNVPathogenicrs72659338GRCh37Chr 7, 94056966: 94056966
11COL1A1NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys)SNVPathogenicrs67368147GRCh37Chr 17, 48269166: 48269166
12COL1A1NM_000088.3(COL1A1): c.3064G> A (p.Gly1022Ser)SNVPathogenicrs66523073GRCh37Chr 17, 48266138: 48266138
13COL1A1COL1A1, EX22DELdeletionPathogenicChr na, -1: -1
14COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)SNVPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
15COL1A1NM_000088.3(COL1A1): c.1588G> A (p.Gly530Ser)SNVPathogenicrs67682641GRCh37Chr 17, 48271736: 48271736
16COL1A1NM_000088.3(COL1A1): c.3118G> A (p.Gly1040Ser)SNVPathogenicrs72653178GRCh37Chr 17, 48265980: 48265980
17COL1A1NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser)SNVPathogenicrs72653131GRCh37Chr 17, 48267406: 48267406
18COL1A1NM_000088.3(COL1A1): c.4391T> C (p.Leu1464Pro)SNVPathogenicrs72656353GRCh37Chr 17, 48262867: 48262867
19COL1A1COL1A1, 562-BP DELdeletionPathogenicChr na, -1: -1
20COL1A1NM_000088.3(COL1A1): c.761G> A (p.Gly254Glu)SNVPathogenicrs72645320GRCh37Chr 17, 48274414: 48274414
21COL1A2NM_000089.3(COL1A2): c.1971+1G> ASNVPathogenicrs72658151GRCh37Chr 7, 94047144: 94047144
22COL1A2NM_000089.3(COL1A2): c.2099G> A (p.Gly700Asp)SNVPathogenicrs72658161GRCh37Chr 7, 94049564: 94049564
23COL1A1NM_000088.3(COL1A1): c.472-1G> CSNVPathogenicrs72667020GRCh37Chr 17, 48275866: 48275866
24COL1A2NM_000089.3(COL1A2): c.1550G> A (p.Gly517Asp)SNVPathogenicGRCh37Chr 7, 94042441: 94042441

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:00055819.8COL1A1, COL1A2
2collagen type I trimerGO:00055849.8COL1A1, COL1A2
3endoplasmic reticulum lumenGO:00057889.8COL1A1, COL1A2
4extracellular matrixGO:00310129.3COL1A1, COL1A2, SERPINF1
5extracellular regionGO:00055769.2COL1A1, COL1A2, SERPINF1
6extracellular 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
1cellular response to retinoic acidGO:00713009.8COL1A1, SERPINF1
2blood coagulationGO:00075969.7COL1A1, COL1A2
3blood vessel developmentGO:00015689.7COL1A1, COL1A2
4cellular response to amino acid stimulusGO:00712309.7COL1A1, COL1A2
5collagen catabolic processGO:00305749.7COL1A1, COL1A2
6collagen fibril organizationGO:00301999.7COL1A1, COL1A2
7extracellular matrix organizationGO:00301989.7COL1A1, COL1A2
8leukocyte migrationGO:00509009.7COL1A1, COL1A2
9platelet activationGO:00301689.7COL1A1, COL1A2
10protein heterotrimerizationGO:00702089.7COL1A1, COL1A2
11regulation of immune responseGO:00507769.6COL1A1, COL1A2
12skeletal system developmentGO:00015019.3COL1A1, COL1A2
13skin morphogenesisGO:00435899.0COL1A1, COL1A2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.3COL1A1, COL1A2
2platelet-derived growth factor bindingGO:00484079.0COL1A1, 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