MCID: OST038
MIFTS: 50

Osteogenesis Imperfecta Type 4 malady

Bone diseases, Fetal diseases categories

Summaries for Osteogenesis Imperfecta Type 4

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Sources:
46OMIM, 32MalaCards
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MalaCards: Osteogenesis Imperfecta Type 4, also known as oi type iv, is related to osteogenesis imperfecta and osteogenesis imperfecta type i. An important gene associated with Osteogenesis Imperfecta Type 4 is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Inflammatory Response Pathway and Protein digestion and absorption. The drugs calcitonin and salmon calcitonin and the compounds Collagenase and nppa have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are muscle and respiratory system.

Description from OMIM:46 166220, 259440, 610682, 613849, 615066 615220 more

Aliases & Classifications for Osteogenesis Imperfecta Type 4

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Sources:
60UMLS, 42NIH Rare Diseases, 48Orphanet, 46OMIM, 44Novoseek, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
osteogenesis imperfecta type 4:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

osteogenesis imperfecta type 4 42 48
oi type iv 42 46
oi type 4 42 48
osteogenesis imperfecta with normal sclerae 42
osteogenesis imperfecta, type iv 46
osteogenesis imperfecta 60
oi, type iv 44


External Ids:

MESH via Orphanet35 C536045
ICD10 via Orphanet26 Q78.0
SNOMED-CT via Orphanet57 205497004
UMLS via Orphanet61 C0268363
ICD1025 Q78.0

Related Diseases for Osteogenesis Imperfecta Type 4

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Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Osteogenesis Imperfecta Type Iii family:

Osteogenesis Imperfecta Osteogenesis Imperfecta Type I
Osteogenesis Imperfecta Type 9 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 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 top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta32.3COL1A1, SP7, TMEM38B, CRTAP, PPIB, COL1A2
2osteogenesis imperfecta type i31.8COL1A1, COL1A2
3osteogenesis imperfecta type iii31.4COL1A1, COL1A2
4dentinogenesis imperfecta31.2CRTAP, COL1A1, COL1A2
5osteogenesis imperfecta, type ii30.8COL1A2, COL1A1
6ehlers-danlos syndrome30.8COL1A1, COL1A2
7osteoporosis30.8COL1A1, SP7, COL1A2
8col1a1/2-related osteogenesis imperfecta30.6COL1A2, COL1A1
9otosclerosis30.3COL1A1, COL1A2
10connective tissue disease30.1COL1A1, COL1A2
11osteogenesis imperfecta type 610.7
12bone fracture10.6
13osteogenesis imperfecta type 510.6
14osteogenesis imperfecta type 910.6
15osteogenesis imperfecta type 810.5
16osteogenesis imperfecta type xiii10.5
17osteogenesis imperfecta type 710.5
18osteogenesis imperfecta type 2a10.5
19osteogenesis imperfecta type xi10.5
20osteogenesis imperfecta type xii10.5
21collagen disease10.4
22osteogenesis imperfecta levin type10.4
23osteogenesis imperfecta type 1a10.4
24osteogenesis imperfecta type x10.4
25osteogenesis imperfecta, type xiv10.4
26osteogenesis imperfecta type 2b10.4
27osteogenesis imperfecta, type xv10.4
28congenital osteogenesis imperfecta - microcephaly - cataracts10.4
29high bone mass osteogenesis imperfecta10.4
30reflex sympathetic dystrophy10.3
31osteonecrosis10.3
32type i ehlers-danlos syndrome10.3
33cerebritis10.3
34spondylolysis10.3
35hypophosphatasia10.3
36breast cancer10.3
37dentinogenesis imperfecta 110.3
38osteoporosis-pseudoglioma syndrome10.3
39crtap-related osteogenesis imperfecta10.3
40ehlers-danlos/osteogenesis imperfecta syndrome10.3
41spondylolisthesis10.2
42thanatophoric dysplasia10.2
43fibrous dysplasia10.2
44n syndrome10.2
45idiopathic juvenile osteoporosis10.2
46aortic aneurysm10.2
47hydrocephalus10.2
48al gazali sabrinathan nair syndrome10.2
49cole carpenter syndrome10.2
50osteogenesis imperfecta congenita microcephaly and cataracts10.2

Graphical network of the top 20 diseases related to Osteogenesis Imperfecta Type 4:



Diseases related to osteogenesis imperfecta type 4

Clinical Features for Osteogenesis Imperfecta Type 4

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Sources:
46OMIM
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Clinical features from OMIM:

166220,259440,610682,613849,615066,615220

Clinical synopsis from OMIM:

166220

Drugs & Therapeutics for Osteogenesis Imperfecta Type 4

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Osteogenesis Imperfecta Type 4

Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta Type 4

Search NIH Clinical Center for Osteogenesis Imperfecta Type 4

Search CenterWatch for Osteogenesis Imperfecta Type 4

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Osteogenesis Imperfecta Type 4

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Anatomical Context for Osteogenesis Imperfecta Type 4

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Sources:
32MalaCards
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MalaCards organs/tissues related to Osteogenesis Imperfecta Type 4:

32
Bone

Animal Models for Osteogenesis Imperfecta Type 4 or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Osteogenesis Imperfecta Type 4:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5TMEM38B, WNT1, COL1A1, COL1A2
2MP:00053888.2COL1A1, WNT1, TMEM38B, SP7
3MP:00107687.5COL1A2, COL1A1, PPIB, WNT1, TMEM38B, SP7
4MP:00053907.3SP7, WNT1, CRTAP, PPIB, COL1A1, COL1A2

Publications for Osteogenesis Imperfecta Type 4

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Genetic Variations for Osteogenesis Imperfecta Type 4

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Osteogenesis Imperfecta Type 4:

62 (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

Expression for genes affiliated with Osteogenesis Imperfecta Type 4

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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:
37NCBI BioSystems Database, 29KEGG, 49PharmGKB, 53Reactome, 12EMD Millipore, 51QIAGEN
See all sources

Pathways related to Osteogenesis Imperfecta Type 4 according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7COL1A1, COL1A2
29.7COL1A1, COL1A2
39.7COL1A1, COL1A2
49.7COL1A1, COL1A2
59.7COL1A1, COL1A2
69.7COL1A1, COL1A2
79.7COL1A1, COL1A2
89.7COL1A1, COL1A2
99.7COL1A1, COL1A2
10
Cell adhesion ECM remodeling
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9.7COL1A1, COL1A2
11
Hide members
9.7COL1A1, COL1A2
129.7COL1A2, COL1A1
13
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
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9.7COL1A2, COL1A1
14
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
9.7COL1A2, COL1A1
159.7COL1A2, COL1A1
169.7COL1A2, COL1A1
179.5WNT1, COL1A2
18
Hide members
8.3CRTAP, PPIB, COL1A1, COL1A2

Compounds for genes affiliated with Osteogenesis Imperfecta Type 4

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Sources:
11DrugBank, 44Novoseek, 59Tocris Bioscience, 28IUPHAR
See all sources

Compounds related to Osteogenesis Imperfecta Type 4 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Collagenase119.9COL1A1, COL1A2
2nppa449.9COL1A1, COL1A2
3carbodiimide449.8COL1A1, COL1A2
4nppb44 59 2811.8COL1A1, COL1A2
5xbai449.8COL1A2, COL1A1
6ecori449.7COL1A1, COL1A2
7procollagen449.7COL1A1, COL1A2
8rsai449.6COL1A1, COL1A2
9mspi449.4COL1A1, COL1A2

GO Terms for genes affiliated with Osteogenesis Imperfecta Type 4

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Sources:
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:0055849.7COL1A1, COL1A2
2endoplasmic reticulum lumenGO:0057887.4WNT1, CRTAP, PPIB, COL1A1, COL1A2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.9COL1A2, COL1A1
2protein heterotrimerizationGO:0702089.9COL1A1, COL1A2
3cellular response to amino acid stimulusGO:0712309.8COL1A2, COL1A1
4collagen fibril organizationGO:0301999.8COL1A1, COL1A2
5blood vessel developmentGO:0015689.7COL1A1, COL1A2
6extracellular matrix disassemblyGO:0226179.7COL1A1, COL1A2
7negative regulation of cell-substrate adhesionGO:0108129.6WNT1, COL1A1
8osteoblast differentiationGO:0016499.5COL1A1, SP7
9collagen catabolic processGO:0305749.4COL1A1, COL1A2
10extracellular matrix organizationGO:0301988.6CRTAP, PPIB, COL1A1, COL1A2

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

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

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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet