MCID: PRG091
MIFTS: 22

Progressively Deforming Osteogenesis Imperfecta malady

Genetic diseases (common), Bone diseases categories

Aliases & Classifications for Progressively Deforming Osteogenesis Imperfecta

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Aliases & Descriptions for Progressively Deforming Osteogenesis Imperfecta:

Name: Progressively Deforming Osteogenesis Imperfecta 22
Osteogenesis Imperfecta Type 3 22
 
Progressively Deforming Oi 22
Oi Type 3 22


Classifications:



Summaries for Progressively Deforming Osteogenesis Imperfecta

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MalaCards based summary: Progressively Deforming Osteogenesis Imperfecta, also known as osteogenesis imperfecta type 3, 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), and among its related pathways are Protein digestion and absorption and Amoebiasis. Affiliated tissues include bone.

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 31)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iii30.4COL1A1, COL1A2, SERPINF1
2osteogenesis imperfecta10.6
3osteolysis syndrome recessive10.0COL1A1, COL1A2
4classic rett syndrome10.0COL1A1, COL1A2
5congenital trigeminal anesthesia10.0COL1A1, COL1A2
6idiopathic linear interstitial keratitis10.0COL1A1, COL1A2
7pervasive developmental disorder not otherwise specified10.0COL1A1, COL1A2
8col4a1-related disorders9.9COL1A1, COL1A2
9eif4g1-related parkinson disease9.9COL1A1, COL1A2
10larsen-like syndrome9.9COL1A1, COL1A2
11ehlers-danlos syndrome, type viib9.9COL1A1, COL1A2
12autosomal dominant microcephaly9.9COL1A1, COL1A2
13caffey disease9.9COL1A1, COL1A2
14osteogenesis imperfecta, type ii9.9COL1A1, COL1A2
15mental retardation, autosomal recessive 359.9COL1A1, COL1A2
16cogan-reese syndrome9.9COL1A1, COL1A2
17ehlers-danlos syndrome, classic type9.9COL1A1, COL1A2
18splenic flexure cancer9.9COL1A1, COL1A2
19depressed scar9.9COL1A1, COL1A2
20anterior cruciate ligament tears9.9COL1A1, COL1A2
21osteomyelitis9.9COL1A1, COL1A2
22sclerosing hemangioma9.9COL1A1, COL1A2
23scrotal carcinoma9.9COL1A1, COL1A2
24colon adenocarcinoma9.8COL1A1, COL1A2
25bone ewing's sarcoma9.8COL1A1, COL1A2
26constipation9.8COL1A1, COL1A2
27deafness, x-linked 69.8COL1A1, COL1A2
28osteogenesis imperfecta, type iv9.7COL1A1, COL1A2, SERPINF1
29xanthinuria9.7COL1A1, COL1A2, SERPINF1
30sapho syndrome9.7COL1A1, COL1A2, SERPINF1
31ehrlichiosis9.7COL1A1, COL1A2

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



Diseases related to progressively deforming osteogenesis imperfecta

Symptoms 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 Imperfecta22 COL1A2

Anatomical Context for Progressively Deforming Osteogenesis Imperfecta

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MalaCards organs/tissues related to Progressively Deforming Osteogenesis Imperfecta:

33
Bone

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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Clinvar genetic disease variations for Progressively Deforming Osteogenesis Imperfecta:

5 (show all 22)
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)single nucleotide variantPathogenicrs121912905GRCh37Chr 7, 94038118: 94038118
3COL1A2NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val)single nucleotide variantPathogenicrs121912907GRCh37Chr 7, 94044575: 94044575
4COL1A2COL1A2, VAL255DELdeletionPathogenic
5COL1A2NM_000089.3(COL1A2): c.2575G> A (p.Gly859Ser)single nucleotide variantPathogenicrs72658200GRCh37Chr 7, 94053657: 94053657
6COL1A2NM_000089.3(COL1A2): c.3017G> C (p.Gly1006Ala)single nucleotide variantPathogenicrs121912911GRCh37Chr 7, 94055754: 94055754
7COL1A2NM_000089.3(COL1A2): c.2251G> A (p.Gly751Ser)single nucleotide variantPathogenicrs72658176GRCh37Chr 7, 94049916: 94049916
8COL1A2NM_000089.3(COL1A2): c.1099G> T (p.Gly367Trp)single nucleotide variantPathogenicrs72656402GRCh37Chr 7, 94039741: 94039741
9COL1A2NM_000089.3(COL1A2): c.3269G> A (p.Gly1090Asp)single nucleotide variantPathogenicrs267606742GRCh37Chr 7, 94056940: 94056940
10COL1A2NM_000089.3(COL1A2): c.3295G> A (p.Gly1099Arg)single nucleotide variantPathogenicrs72659338GRCh37Chr 7, 94056966: 94056966
11COL1A1NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys)single nucleotide variantPathogenicrs67368147GRCh37Chr 17, 48269166: 48269166
12COL1A1NM_000088.3(COL1A1): c.3064G> A (p.Gly1022Ser)single nucleotide variantPathogenicrs66523073GRCh37Chr 17, 48266138: 48266138
13COL1A1COL1A1, EX22DELdeletionPathogenic
14COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
15COL1A1NM_000088.3(COL1A1): c.1588G> A (p.Gly530Ser)single nucleotide variantPathogenicrs67682641GRCh37Chr 17, 48271736: 48271736
16COL1A1NM_000088.3(COL1A1): c.3118G> A (p.Gly1040Ser)single nucleotide variantPathogenicrs72653178GRCh37Chr 17, 48265980: 48265980
17COL1A1NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser)single nucleotide variantPathogenicrs72653131GRCh37Chr 17, 48267406: 48267406
18COL1A1NM_000088.3(COL1A1): c.4391T> C (p.Leu1464Pro)single nucleotide variantPathogenicrs72656353GRCh37Chr 17, 48262867: 48262867
19COL1A1COL1A1, 562-BP DELdeletionPathogenic
20COL1A1NM_000088.3(COL1A1): c.761G> A (p.Gly254Glu)single nucleotide variantPathogenicrs72645320GRCh37Chr 17, 48274414: 48274414
21COL1A2NM_000089.3(COL1A2): c.1971+1G> Asingle nucleotide variantPathogenicrs72658151GRCh37Chr 7, 94047144: 94047144
22COL1A2NM_000089.3(COL1A2): c.2099G> A (p.Gly700Asp)single nucleotide variantPathogenicrs72658161GRCh37Chr 7, 94049564: 94049564

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 type I trimerGO:00055849.7COL1A1, COL1A2
2collagen trimerGO:00055819.1COL1A1, COL1A2
3endoplasmic reticulum lumenGO:00057889.0COL1A1, COL1A2
4extracellular spaceGO:00056158.5COL1A1, COL1A2, SERPINF1
5extracellular matrixGO:00310128.4COL1A1, COL1A2, SERPINF1
6extracellular regionGO:00055768.2COL1A1, 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:00713009.7COL1A1, SERPINF1
2skin morphogenesisGO:00435899.7COL1A1, COL1A2
3protein heterotrimerizationGO:00702089.5COL1A1, COL1A2
4leukocyte migrationGO:00509009.4COL1A1, COL1A2
5skeletal system developmentGO:00015019.4COL1A1, COL1A2
6blood vessel developmentGO:00015689.4COL1A1, COL1A2
7collagen fibril organizationGO:00301999.3COL1A1, COL1A2
8regulation of immune responseGO:00507769.3COL1A1, COL1A2
9receptor-mediated endocytosisGO:00068989.3COL1A1, COL1A2
10extracellular matrix disassemblyGO:00226179.2COL1A1, COL1A2
11collagen catabolic processGO:00305749.2COL1A1, COL1A2
12cellular response to amino acid stimulusGO:00712309.2COL1A1, COL1A2
13platelet activationGO:00301689.0COL1A1, COL1A2

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.0COL1A1, COL1A2
2extracellular matrix structural constituentGO:00052018.7COL1A1, COL1A2

Sources for Progressively Deforming Osteogenesis Imperfecta

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet