MCID: OST038
MIFTS: 47

Osteogenesis Imperfecta Type 4 malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases categories
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Summaries for Osteogenesis Imperfecta Type 4

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Sources:
47OMIM, 33MalaCards
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MalaCards: Osteogenesis Imperfecta Type 4, also known as oi type iv, is related to osteogenesis imperfecta and osteogenesis imperfecta type iii. An important gene associated with Osteogenesis Imperfecta Type 4 is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Cell adhesion Endothelial cell contacts by non junctional mechanisms and Development Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs calcitonin and salmon calcitonin and the compounds nppa and carbodiimide have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and muscle.

Description from OMIM:47 166220, 259440, 610682, 613849, 615066 615220 more

Aliases & Classifications for Osteogenesis Imperfecta Type 4

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Sources:
62UMLS, 43NIH Rare Diseases, 49Orphanet, 47OMIM, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
osteogenesis imperfecta type 4:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

osteogenesis imperfecta type 4 43 49
oi type iv 43 47
oi type 4 43 49
osteogenesis imperfecta with normal sclerae 43
osteogenesis imperfecta, type iv 47
osteogenesis imperfecta 62
oi, type iv 45


External Ids:

MESH via Orphanet36 C536045
ICD10 via Orphanet26 Q78.0
SNOMED-CT via Orphanet59 205497004
UMLS via Orphanet63 C0268363
ICD1025 Q78.0

Related Diseases for Osteogenesis Imperfecta Type 4

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Osteogenesis Imperfecta Type Iii family:

Osteogenesis Imperfecta Osteogenesis Imperfecta Type I
Osteogenesis Imperfecta Type 1a Osteogenesis Imperfecta Type 2a
Osteogenesis Imperfecta Type 2b osteogenesis imperfecta type 4
Osteogenesis Imperfecta Type 5 Osteogenesis Imperfecta Type 6
Osteogenesis Imperfecta Type 7 Osteogenesis Imperfecta Type 8
Osteogenesis Imperfecta Type 9 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
Osteogenesis Imperfecta Type Xi Osteogenesis Imperfecta Type X
Osteogenesis Imperfecta Type Xii Osteogenesis Imperfecta Type Xiii
Osteogenesis Imperfecta, Type Ii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type Xv

Diseases related to Osteogenesis Imperfecta Type 4 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta31.1CRTAP, COL1A2, COL1A1, TMEM38B, SP7, PPIB
2osteogenesis imperfecta type iii30.7COL1A1, COL1A2
3common variable osteogenesis imperfecta with normal sclerae10.6
4osteogenesis imperfecta type 510.4
5osteogenesis imperfecta type 810.2
6osteogenesis imperfecta type xiii10.2
7osteogenesis imperfecta, type xiv10.2
8osteogenesis imperfecta, type xv10.2
9col1a1/2-related osteogenesis imperfecta10.1COL1A1, COL1A2
10osteogenesis imperfecta, type ii10.0COL1A1, COL1A2
11osteogenesis imperfecta type i10.0COL1A2, COL1A1
12ehlers–danlos syndrome classical type10.0COL1A1, COL1A2
13otosclerosis10.0COL1A2, COL1A1
14ehlers-danlos syndrome10.0COL1A1, COL1A2
15systemic scleroderma10.0COL1A2, COL1A1
16connective tissue disease10.0COL1A2, COL1A1
17dentinogenesis imperfecta10.0COL1A1, COL1A2, CRTAP
18pulmonary fibrosis10.0COL1A2, COL1A1
19osteoporosis10.0COL1A2, COL1A1, SP7

Graphical network of diseases related to Osteogenesis Imperfecta Type 4:



Diseases related to osteogenesis imperfecta type 4

Symptoms for Osteogenesis Imperfecta Type 4

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Sources:
47OMIM
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Symptoms by clinical synopsis from OMIM:

166220

Clinical features from OMIM:

166220,259440,610682,613849,615066,615220

Drugs & Therapeutics for Osteogenesis Imperfecta Type 4

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta Type 4

Search NIH Clinical Center for Osteogenesis Imperfecta Type 4

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Osteogenesis Imperfecta Type 4

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Anatomical Context for Osteogenesis Imperfecta Type 4

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33MalaCards
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MalaCards organs/tissues related to Osteogenesis Imperfecta Type 4:

33
Bone

Animal Models for Osteogenesis Imperfecta Type 4 or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Osteogenesis Imperfecta Type 4:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9COL1A2, COL1A1, SP7
2MP:00053698.2TMEM38B, WNT1, COL1A1, COL1A2
3MP:00053888.0COL1A1, WNT1, TMEM38B, SP7
4MP:00053907.4CRTAP, COL1A2, COL1A1, WNT1, SP7, PPIB
5MP:00107687.2PPIB, SP7, TMEM38B, WNT1, COL1A1, COL1A2

Publications for Osteogenesis Imperfecta Type 4

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Variations for Osteogenesis Imperfecta Type 4

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta Type 4:

64 (show all 62)
id Symbol AA change Variation ID SNP ID
1COL1A1p.Gly353CysVAR_001652
2COL1A1p.Gly353CysVAR_001652
3COL1A1p.Gly356CysVAR_001653
4COL1A1p.Gly356CysVAR_001653
5COL1A1p.Gly383CysVAR_001654
6COL1A1p.Gly383CysVAR_001654
7COL1A1p.Gly398AlaVAR_001657
8COL1A1p.Gly398AlaVAR_001657
9COL1A1p.Gly401CysVAR_001659
10COL1A1p.Gly401CysVAR_001659
11COL1A1p.Gly527CysVAR_001665
12COL1A1p.Gly527CysVAR_001665
13COL1A1p.Gly530SerVAR_001666
14COL1A1p.Gly530SerVAR_001666
15COL1A1p.Gly560SerVAR_001668
16COL1A1p.Gly560SerVAR_001668
17COL1A1p.Gly560CysVAR_001669
18COL1A1p.Gly560CysVAR_001669
19COL1A1p.Gly593CysVAR_001673
20COL1A1p.Gly593CysVAR_001673
21COL1A1p.Gly701CysVAR_001677
22COL1A1p.Gly701CysVAR_001677
23COL1A1p.Gly1010SerVAR_001701
24COL1A1p.Gly1010SerVAR_001701
25COL1A1p.Gly1058SerVAR_001709
26COL1A1p.Gly1058SerVAR_001709
27COL1A1p.Gly1061SerVAR_001711
28COL1A1p.Gly1061SerVAR_001711
29COL1A1p.Gly197ArgVAR_063293
30COL1A1p.Gly197ArgVAR_063293
31COL1A1p.Gly257ArgVAR_063297
32COL1A1p.Gly257ArgVAR_063297
33COL1A1p.Gly338CysVAR_063303
34COL1A1p.Gly338CysVAR_063303
35COL1A1p.Gly353SerVAR_063306
36COL1A1p.Gly353SerVAR_063306
37COL1A1p.Gly683SerVAR_063320
38COL1A1p.Gly683SerVAR_063320
39COL1A2p.Gly634ValVAR_001871
40COL1A2p.Gly634ValVAR_001871
41COL1A2p.Gly676ValVAR_001875
42COL1A2p.Gly676ValVAR_001875
43COL1A2p.Gly751SerVAR_001881
44COL1A2p.Gly751SerVAR_001881
45COL1A2p.Gly766ValVAR_001883
46COL1A2p.Gly766ValVAR_001883
47COL1A2p.Gly892AspVAR_001892
48COL1A2p.Gly892AspVAR_001892
49COL1A2p.Gly1012SerVAR_001897
50COL1A2p.Gly1012SerVAR_001897
51COL1A2p.Gly1102ArgVAR_001902
52COL1A2p.Gly1102ArgVAR_001902
53COL1A2p.Gly193SerVAR_063343
54COL1A2p.Gly193SerVAR_063343
55COL1A2p.Gly202ArgVAR_063344
56COL1A2p.Gly202ArgVAR_063344
57COL1A2p.Gly256ValVAR_063348
58COL1A2p.Gly256ValVAR_063348
59COL1A2p.Gly325GluVAR_063351
60COL1A2p.Gly325GluVAR_063351
61COL1A2p.Gly754CysVAR_063366
62COL1A2p.Gly754CysVAR_063366

Clinvar genetic disease variations for Osteogenesis Imperfecta Type 4:

1 (show all 14)
id Gene Name 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
11COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
12COL1A1COL1A1, IVS8DS, G-A, +1single nucleotide variantPathogenic
13COL1A1COL1A1, 3-BP DEL, 1964GGCdeletionPathogenic
14COL1A1COL1A1, IVS19DS, G-C, +1single nucleotide variantPathogenic

Expression for genes affiliated with Osteogenesis Imperfecta Type 4

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Osteogenesis Imperfecta Type 4

Search GEO for disease gene expression data for Osteogenesis Imperfecta Type 4.

Pathways for genes affiliated with Osteogenesis Imperfecta Type 4

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Sources:
50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 55Reactome, 51PharmGKB, 53QIAGEN
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Pathways related to Osteogenesis Imperfecta Type 4 according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7COL1A1, COL1A2
29.7COL1A1, COL1A2
39.7COL1A2, COL1A1
49.7COL1A2, COL1A1
59.7COL1A2, COL1A1
6
Show member pathways
9.7COL1A2, COL1A1
7
Show member pathways
9.7COL1A2, COL1A1
89.7COL1A2, COL1A1
9
Show member pathways
9.7COL1A2, COL1A1
109.7COL1A2, COL1A1
119.6WNT1, COL1A2
12
Show member pathways
8.7PPIB, COL1A1, COL1A2, CRTAP
13
Show member pathways
8.7CRTAP, COL1A2, COL1A1, PPIB

Compounds for genes affiliated with Osteogenesis Imperfecta Type 4

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Sources:
45Novoseek, 29IUPHAR, 61Tocris Bioscience, 51PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Osteogenesis Imperfecta Type 4 according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1nppa459.9COL1A2, COL1A1
2carbodiimide459.9COL1A2, COL1A1
3nppb29 45 6111.9COL1A2, COL1A1
4xbai459.9COL1A1, COL1A2
5ecori459.8COL1A2, COL1A1
6rsai459.8COL1A2, COL1A1
7mspi459.8COL1A1, COL1A2
8procollagen459.7COL1A2, COL1A1
9simvastatin45 51 61 29 24 1114.4COL1A1, COL1A2
10oligonucleotide459.1COL1A2, COL1A1, WNT1
11calcium45 51 24 1111.2COL1A2, COL1A1, TMEM38B, SP7

GO Terms for genes affiliated with Osteogenesis Imperfecta Type 4

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16Gene Ontology
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Cellular components related to Osteogenesis Imperfecta Type 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:0055849.6COL1A1, COL1A2
2macromolecular complexGO:0329919.2CRTAP, PPIB
3extracellular spaceGO:0056158.7CRTAP, COL1A2, COL1A1, WNT1
4endoplasmic reticulum lumenGO:0057888.2CRTAP, COL1A2, COL1A1, WNT1, PPIB

Biological processes related to Osteogenesis Imperfecta Type 4 according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:04358910.0COL1A2, COL1A1
2protein heterotrimerizationGO:07020810.0COL1A2, COL1A1
3collagen fibril organizationGO:0301999.9COL1A1, COL1A2
4blood vessel developmentGO:0015689.9COL1A1, COL1A2
5cellular response to amino acid stimulusGO:0712309.8COL1A2, COL1A1
6negative regulation of cell-substrate adhesionGO:0108129.8WNT1, COL1A1
7collagen catabolic processGO:0305749.8COL1A2, COL1A1
8chaperone-mediated protein foldingGO:0610779.7CRTAP, PPIB
9skeletal system developmentGO:0015019.7COL1A2, COL1A1
10bone developmentGO:0603489.7WNT1, PPIB
11extracellular matrix disassemblyGO:0226179.6COL1A2, COL1A1
12protein stabilizationGO:0508219.5PPIB, CRTAP
13leukocyte migrationGO:0509009.4COL1A2, COL1A1
14osteoblast differentiationGO:0016499.4COL1A1, SP7
15extracellular matrix organizationGO:0301989.0CRTAP, COL1A2, COL1A1, PPIB

Molecular functions related to Osteogenesis Imperfecta Type 4 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.7COL1A2, COL1A1
2platelet-derived growth factor bindingGO:0484079.4COL1A2, COL1A1

Products for genes affiliated with Osteogenesis Imperfecta Type 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Osteogenesis Imperfecta Type 4

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet