MCID: OST121
MIFTS: 46

Osteogenesis Imperfecta, Type Iv malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases categories

Aliases & Classifications for Osteogenesis Imperfecta, Type Iv

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Osteogenesis Imperfecta, Type Iv, Aliases & Descriptions:

Name: Osteogenesis Imperfecta, Type Iv 45
Oi Type Iv 45 10 41
Osteogenesis Imperfecta Type 4 41 47
Oi Type 4 41 47
 
Osteogenesis Imperfecta with Normal Sclerae 41
Osteogenesis Imperfecta Type Iv 60
Oi, Type Iv 43


Classifications:



Characteristics (Orphanet epidemiological data):

47
osteogenesis imperfecta type 4:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 166220
Orphanet47 216820
MESH via Orphanet34 C536045
ICD10 via Orphanet26 Q78.0
UMLS via Orphanet61 C0268363

Summaries for Osteogenesis Imperfecta, Type Iv

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OMIM:45 Osteogenesis imperfecta (OI) is a connective tissue disorder that is caused by an abnormality of type I collagen in... (166220) more...

MalaCards based summary: Osteogenesis Imperfecta, Type Iv, also known as oi type iv, is related to osteogenesis imperfecta, type iii and osteogenesis imperfecta, and has symptoms including blue sclerae, autosomal dominant inheritance and otosclerosis. An important gene associated with Osteogenesis Imperfecta, Type Iv is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Cell adhesion Endothelial cell contacts by non junctional mechanisms and Protein digestion and absorption. The compounds nppa and carbodiimide have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are respiratory system and growth/size/body.

Related Diseases for Osteogenesis Imperfecta, Type Iv

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Diseases in the Osteogenesis Imperfecta family:

Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type Vii
osteogenesis imperfecta, type iv Osteogenesis Imperfecta, Type Iii
Osteogenesis Imperfecta, Type Ii Osteogenesis Imperfecta, Type Xiii
Osteogenesis Imperfecta, Type Xiv Osteogenesis Imperfecta, Type V
Osteogenesis Imperfecta, Type X Osteogenesis Imperfecta, Type Xv
Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Vi Osteogenesis Imperfecta, Type Xi
Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta Type 1a
Osteogenesis Imperfecta Type 2a Osteogenesis Imperfecta Type 2b
Crtap-Related Osteogenesis Imperfecta Lepre1-Related Osteogenesis Imperfecta
Ppib-Related Osteogenesis Imperfecta Fkbp10-Related Osteogenesis Imperfecta
Serpinf1-Related Osteogenesis Imperfecta Serpinh1-Related Osteogenesis Imperfecta
Sp7-Related Osteogenesis Imperfecta Ifitm5-Related Osteogenesis Imperfecta
Bmp1-Related Osteogenesis Imperfecta

Diseases related to Osteogenesis Imperfecta, Type Iv via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iii31.1COL1A1, COL1A2
2osteogenesis imperfecta30.0CD36, CRTAP, COL1A2, COL1A1, TMEM38B, SP7
3common variable osteogenesis imperfecta with normal sclerae10.7
4osteogenesis imperfecta, type ii10.4COL1A1
5caffey disease10.4COL1A1
6osteogenesis imperfecta, type v10.4
7osteogenesis imperfecta, type i10.3COL1A1, COL1A2
8col1a1/2-related osteogenesis imperfecta10.3COL1A1, COL1A2
9ehlers-danlos syndrome, type i10.2COL1A1, COL1A2
10osteogenesis imperfecta, type viii10.2
11osteogenesis imperfecta, type xiii10.2
12osteogenesis imperfecta, type xiv10.2
13osteogenesis imperfecta, type xv10.2
14idiopathic juvenile osteoporosis10.2COL1A2, CD36
15collagen disease10.2CD36, COL1A1
16marfan syndrome10.2CD36, COL1A2
17systemic scleroderma10.2COL1A1, COL1A2
18glomerulosclerosis10.1CD36, COL1A2
19gingival overgrowth10.1CD36, COL1A1
20otosclerosis10.1COL1A1, COL1A2, CD36
21ehlers-danlos syndrome10.1CD36, COL1A2, COL1A1
22connective tissue disease10.1COL1A1, COL1A2, CD36
23osteoporosis10.1COL1A1, CD36
24pulmonary fibrosis10.1CD36, COL1A2, COL1A1
25dentinogenesis imperfecta9.9COL1A1, COL1A2, CRTAP, CD36
26osteoarthritis9.8COL1A1, COL1A2, CD36

Graphical network of the top 20 diseases related to Osteogenesis Imperfecta, Type Iv:



Diseases related to osteogenesis imperfecta, type iv

Symptoms for Osteogenesis Imperfecta, Type Iv

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Symptoms by clinical synopsis from OMIM:

166220

Clinical features from OMIM:

166220

HPO human phenotypes related to Osteogenesis Imperfecta, Type Iv:

(show all 13)
id Description Frequency HPO Source Accession
1 blue sclerae 10% HP:0000592
2 autosomal dominant inheritance HP:0000006
3 otosclerosis HP:0000362
4 hearing impairment HP:0000365
5 dentinogenesis imperfecta HP:0000703
6 wormian bones HP:0002645
7 scoliosis HP:0002650
8 recurrent fractures HP:0002757
9 kyphosis HP:0002808
10 bowing of limbs due to multiple fractures HP:0003023
11 biconcave flattened vertebrae HP:0003321
12 short stature HP:0004322
13 femoral bowing present at birth, straightening with time HP:0005005

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Iv

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Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta, Type Iv

Search NIH Clinical Center for Osteogenesis Imperfecta, Type Iv

Genetic Tests for Osteogenesis Imperfecta, Type Iv

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Anatomical Context for Osteogenesis Imperfecta, Type Iv

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MalaCards organs/tissues related to Osteogenesis Imperfecta, Type Iv:

31
Bone

Animal Models for Osteogenesis Imperfecta, Type Iv or affiliated genes

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MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iv:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.2COL1A1, WNT1, TMEM38B, SP7
2MP:00053788.2CD36, CRTAP, COL1A2, COL1A1, PPIB
3MP:00053698.0TMEM38B, WNT1, COL1A1, COL1A2, CD36
4MP:00053847.6SP7, WNT1, COL1A1, COL1A2, CD36
5MP:00053907.0CD36, PPIB, SP7, WNT1, COL1A1, COL1A2
6MP:00107686.9PPIB, SP7, TMEM38B, WNT1, COL1A1, COL1A2

Publications for Osteogenesis Imperfecta, Type Iv

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Articles related to Osteogenesis Imperfecta, Type Iv:

(show all 16)
idTitleAuthorsYear
1
Clinical Application of Antenatal Genetic Diagnosis of Osteogenesis Imperfecta Type IV. (25835785)
2015
2
Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome. (23548243)
2013
3
Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome. (22795107)
2012
4
Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings. (22567450)
2011
5
Distinctive tomographic abnormalities of the craniocervical region in a patient with osteogenesis imperfecta type IV B. (20613943)
2010
6
A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV. (19751715)
2009
7
Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV. (11793376)
2002
8
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation. (11836364)
2002
9
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. (9600458)
1998
10
Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation. (9367795)
1997
11
Deletion of a Gly-Pro-Pro repeat in the pro alpha2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV. (8786065)
1996
12
Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N- proteinase. (7982948)
1994
13
Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV. (1642148)
1992
14
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method. (2064612)
1991
15
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. (2745420)
1989
16
Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. (2897363)
1988

Variations for Osteogenesis Imperfecta, Type Iv

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UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type Iv:

62 (show all 31)
id Symbol AA change Variation ID SNP ID
1COL1A1p.Gly353CysVAR_001652
2COL1A1p.Gly356CysVAR_001653
3COL1A1p.Gly383CysVAR_001654
4COL1A1p.Gly398AlaVAR_001657
5COL1A1p.Gly401CysVAR_001659
6COL1A1p.Gly527CysVAR_001665
7COL1A1p.Gly530SerVAR_001666
8COL1A1p.Gly560SerVAR_001668
9COL1A1p.Gly560CysVAR_001669
10COL1A1p.Gly593CysVAR_001673
11COL1A1p.Gly701CysVAR_001677
12COL1A1p.Gly1010SerVAR_001701
13COL1A1p.Gly1058SerVAR_001709
14COL1A1p.Gly1061SerVAR_001711
15COL1A1p.Gly197ArgVAR_063293
16COL1A1p.Gly257ArgVAR_063297
17COL1A1p.Gly338CysVAR_063303
18COL1A1p.Gly353SerVAR_063306
19COL1A1p.Gly683SerVAR_063320
20COL1A2p.Gly634ValVAR_001871
21COL1A2p.Gly676ValVAR_001875
22COL1A2p.Gly751SerVAR_001881
23COL1A2p.Gly766ValVAR_001883
24COL1A2p.Gly892AspVAR_001892
25COL1A2p.Gly1012SerVAR_001897
26COL1A2p.Gly1102ArgVAR_001902
27COL1A2p.Gly193SerVAR_063343
28COL1A2p.Gly202ArgVAR_063344
29COL1A2p.Gly256ValVAR_063348
30COL1A2p.Gly325GluVAR_063351
31COL1A2p.Gly754CysVAR_063366

Clinvar genetic disease variations for Osteogenesis Imperfecta, Type Iv:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A2NM_000089.3(COL1A2): c.3034G> C (p.Gly1012Arg)single nucleotide variantPathogenicrs72659319GRCh37Chr 7, 94055771: 94055771
2COL1A2NM_000089.3(COL1A2): c.1936G> T (p.Gly646Cys)single nucleotide variantPathogenicrs121912903GRCh37Chr 7, 94047108: 94047108
3COL1A2COL1A2, EX26DELdeletionPathogenic
4COL1A2NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val)single nucleotide variantPathogenicrs121912907GRCh37Chr 7, 94044575: 94044575
5COL1A2COL1A2, 9-BP DEL, NT3418deletionPathogenic
6COL1A2COL1A2, IVS21DS, G-A, +5deletionPathogenic
7COL1A2COL1A2, IVS26DS, A-G, +3single nucleotide variantPathogenic
8COL1A2NM_000089.3(COL1A2): c.1136G> C (p.Gly379Ala)single nucleotide variantPathogenicrs121912912GRCh37Chr 7, 94039778: 94039778
9COL1A1NM_000088.3(COL1A1): c.1057G> T (p.Gly353Cys)single nucleotide variantPathogenicrs66721653GRCh37Chr 17, 48273026: 48273026
10COL1A1NM_000088.3(COL1A1): c.3028G> A (p.Gly1010Ser)single nucleotide variantPathogenicrs72653169GRCh37Chr 17, 48266281: 48266281
11COL1A1COL1A1, IVS8DS, G-A, +1single nucleotide variantPathogenic
12COL1A1COL1A1, 3-BP DEL, 1964GGCdeletionPathogenic
13COL1A1COL1A1, IVS19DS, G-C, +1single nucleotide variantPathogenic

Expression for genes affiliated with Osteogenesis Imperfecta, Type Iv

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Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type Iv.

Pathways for genes affiliated with Osteogenesis Imperfecta, Type Iv

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Pathways related to Osteogenesis Imperfecta, Type Iv according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8COL1A2, COL1A1
29.8COL1A2, COL1A1
3
Show member pathways
Metalloproteases in connective tissue degradation
9.8COL1A2, COL1A1
49.8COL1A2, COL1A1
59.8COL1A2, COL1A1
69.8COL1A2, COL1A1
79.8COL1A1, COL1A2
8
Show member pathways
9.8COL1A1, COL1A2
99.3COL1A2, WNT1
109.2CD36, COL1A2, COL1A1
11
Show member pathways
9.2CD36, COL1A2, COL1A1
12
Show member pathways
9.2COL1A1, COL1A2, CD36
13
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
9.2COL1A1, COL1A2, CD36
14
Show member pathways
8.7CRTAP, COL1A2, COL1A1, PPIB
15
Show member pathways
8.7PPIB, COL1A1, COL1A2, CRTAP

Compounds for genes affiliated with Osteogenesis Imperfecta, Type Iv

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Compounds related to Osteogenesis Imperfecta, Type Iv according to GeneCards Suite gene sharing:

(show all 15)
idCompoundScoreTop Affiliating Genes
1nppa4310.0COL1A2, COL1A1
2carbodiimide4310.0COL1A1, COL1A2
3nppb28 43 5912.0COL1A1, COL1A2
4xbai4310.0COL1A2, COL1A1
5ecori439.9COL1A2, COL1A1
6rsai439.9COL1A1, COL1A2
7cyanogen bromide439.8CD36, COL1A2
8mspi439.8COL1A1, COL1A2
9alizarin439.7CD36, SP7
10glycosaminoglycan439.6CD36, COL1A1
11procollagen439.5CD36, COL1A2, COL1A1
12vitamin d439.3CD36, COL1A2, COL1A1
13hydroxyproline43 24 1211.3CD36, COL1A1
14estrogen438.5CD36, COL1A2, COL1A1, WNT1
15calcium43 49 24 1211.2SP7, TMEM38B, COL1A1, COL1A2, CD36

GO Terms for genes affiliated with Osteogenesis Imperfecta, Type Iv

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Cellular components related to Osteogenesis Imperfecta, Type Iv according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:00055849.7COL1A1, COL1A2
2macromolecular complexGO:00329919.1CRTAP, PPIB
3extracellular spaceGO:00056158.5CRTAP, COL1A2, COL1A1, WNT1
4endoplasmic reticulum lumenGO:00057887.9CRTAP, COL1A2, COL1A1, WNT1, PPIB

Biological processes related to Osteogenesis Imperfecta, Type Iv according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.0COL1A2, COL1A1
2protein heterotrimerizationGO:007020810.0COL1A2, COL1A1
3collagen fibril organizationGO:003019910.0COL1A1, COL1A2
4blood vessel developmentGO:00015689.9COL1A1, COL1A2
5cellular response to amino acid stimulusGO:00712309.9COL1A2, COL1A1
6collagen catabolic processGO:00305749.8COL1A2, COL1A1
7leukocyte migrationGO:00509009.8COL1A2, COL1A1
8chaperone-mediated protein foldingGO:00610779.7CRTAP, PPIB
9osteoblast differentiationGO:00016499.7COL1A1, SP7
10negative regulation of cell-substrate adhesionGO:00108129.5WNT1, COL1A1
11platelet activationGO:00301689.5COL1A1, COL1A2, CD36
12extracellular matrix disassemblyGO:00226179.5COL1A2, COL1A1
13protein stabilizationGO:00508219.3CRTAP, PPIB
14blood coagulationGO:00075969.3COL1A1, COL1A2, CD36
15bone developmentGO:00603489.3WNT1, PPIB
16extracellular matrix organizationGO:00301989.0CRTAP, COL1A2, COL1A1, PPIB

Molecular functions related to Osteogenesis Imperfecta, Type Iv according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.8COL1A2, COL1A1
2platelet-derived growth factor bindingGO:00484079.5COL1A2, COL1A1

Products for genes affiliated with Osteogenesis Imperfecta, Type Iv

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Sources for Osteogenesis Imperfecta, Type Iv

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet