MCID: OST038
MIFTS: 39

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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MalaCards based summary: Osteogenesis Imperfecta Type 4, also known as osteogenesis imperfecta with normal sclerae, is related to osteogenesis imperfecta and osteogenesis imperfecta type iii, and has symptoms including An important gene associated with Osteogenesis Imperfecta Type 4 is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Development Endothelin 1 EDNRA signaling and Development Angiotensin activation of ERK. The drugs calcitonin and salmon calcitonin and the compounds nppa and carbodiimide have been mentioned in the context of this disorder. Related mouse phenotype limbs/digits/tail.

Description from OMIM:46 166220

Aliases & Classifications for Osteogenesis Imperfecta Type 4

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Sources:
62UMLS, 42NIH Rare Diseases, 46OMIM, 44Novoseek, 25ICD10
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Osteogenesis Imperfecta Type 4, Aliases & Descriptions:

Name: Osteogenesis Imperfecta Type 4 42
Osteogenesis Imperfecta with Normal Sclerae 42 62
Oi Type Iv 42 46
Osteogenesis Imperfecta, Type Iv 46
 
Osteogenesis Imperfecta 62
Oi, Type Iv 44
Oi Type 4 42


Classifications:



External Ids:

ICD1025 Q78.0

Related Diseases for Osteogenesis Imperfecta Type 4

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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 20)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta31.3COL1A2, COL1A1
2osteogenesis imperfecta type iii30.9COL1A2, COL1A1
3common variable osteogenesis imperfecta with normal sclerae10.6
4osteogenesis imperfecta type 510.4
5osteogenesis imperfecta, type xv10.3
6osteogenesis imperfecta type 810.2
7osteogenesis imperfecta type xiii10.2
8osteogenesis imperfecta, type xiv10.2
9col1a1/2-related osteogenesis imperfecta10.0COL1A2, COL1A1
10osteogenesis imperfecta, type ii10.0COL1A2, COL1A1
11osteogenesis imperfecta type i10.0COL1A1, COL1A2
12ehlers–danlos syndrome classical type10.0COL1A1, COL1A2
13otosclerosis10.0COL1A1, COL1A2
14dentinogenesis imperfecta10.0COL1A1, COL1A2
15ehlers-danlos syndrome9.9COL1A2, COL1A1
16connective tissue disease9.9COL1A2, COL1A1
17pulmonary fibrosis9.9COL1A2, COL1A1
18osteoarthritis9.9COL1A2, COL1A1
19systemic scleroderma9.8COL1A1, COL1A2
20osteoporosis9.8COL1A1, COL1A2

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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Symptoms by clinical synopsis from OMIM:

166220

Clinical features from OMIM:

166220

HPO human phenotypes related to Osteogenesis Imperfecta Type 4:

(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 4

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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-RT40:

Genetic Tests for Osteogenesis Imperfecta Type 4

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Anatomical Context for Osteogenesis Imperfecta Type 4

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Animal Models for Osteogenesis Imperfecta Type 4 or affiliated genes

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MGI Mouse Phenotypes related to Osteogenesis Imperfecta Type 4:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1COL1A2, COL1A1

Publications for Osteogenesis Imperfecta Type 4

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Variations for Osteogenesis Imperfecta Type 4

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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:

6 (show all 19)
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.3583G> T (p.Gly1195Cys)single nucleotide variantPathogenicrs72656334GRCh37Chr 17, 48264232: 48264232
12COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
13COL1A1NM_000088.3(COL1A1): c.787G> A (p.Gly263Arg)single nucleotide variantPathogenicrs72645323GRCh37Chr 17, 48274388: 48274388
14COL1A1COL1A1, IVS8DS, G-A, +1single nucleotide variantPathogenic
15COL1A1COL1A1, 3-BP DEL, 1964GGCdeletionPathogenic
16COL1A1COL1A1, IVS19DS, G-C, +1single nucleotide variantPathogenic
17COL1A1NM_000088.3(COL1A1): c.1200+1G> Asingle nucleotide variantPathogenicrs72648320GRCh37Chr 17, 48272794: 48272794
18COL1A1NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter)single nucleotide variantPathogenicrs72653173GRCh37Chr 17, 48266126: 48266126
19COL1A2NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser)single nucleotide variantPathogenicrs72656387GRCh37Chr 7, 94038679: 94038679

Expression for genes affiliated with Osteogenesis Imperfecta Type 4

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

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
9.1COL1A2, COL1A1
2
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.1COL1A1, COL1A2
3
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.1COL1A1, COL1A2
4
Show member pathways
9.1COL1A2, COL1A1
5
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.1COL1A2, COL1A1
6
Show member pathways
9.1COL1A2, COL1A1
7
Show member pathways
9.1COL1A1, COL1A2
89.1COL1A1, COL1A2
9
Show member pathways
9.1COL1A1, COL1A2
109.1COL1A1, COL1A2
119.1COL1A1, COL1A2
129.1COL1A2, COL1A1
139.1COL1A2, COL1A1
149.1COL1A1, COL1A2
15
Show member pathways
9.1COL1A2, COL1A1
16
Show member pathways
9.1COL1A2, COL1A1
179.1COL1A2, COL1A1
189.1COL1A1, COL1A2
19
Show member pathways
9.1COL1A1, COL1A2

Compounds for genes affiliated with Osteogenesis Imperfecta Type 4

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

(show all 15)
idCompoundScoreTop Affiliating Genes
1nppa449.4COL1A2, COL1A1
2carbodiimide449.4COL1A2, COL1A1
3nppb28 44 6111.4COL1A2, COL1A1
4xbai449.4COL1A1, COL1A2
5ecori449.4COL1A2, COL1A1
6rsai449.4COL1A2, COL1A1
7mspi449.3COL1A2, COL1A1
8procollagen449.3COL1A1, COL1A2
9simvastatin44 50 61 28 24 1114.3COL1A2, COL1A1
10chloramphenicol44 2 50 1112.2COL1A2, COL1A1
11ribonucleic acid449.2COL1A2, COL1A1
12vitamin d449.1COL1A1, COL1A2
13oligonucleotide449.1COL1A2, COL1A1
14thymidine44 2410.0COL1A2, COL1A1
15aspartate448.8COL1A2, COL1A1

GO Terms for genes affiliated with Osteogenesis Imperfecta Type 4

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.1COL1A2, COL1A1
2collagen type IGO:0055849.0COL1A2, COL1A1
3extracellular matrixGO:0310128.8COL1A2, COL1A1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.4COL1A2, COL1A1
2protein heterotrimerizationGO:0702089.4COL1A2, COL1A1
3collagen fibril organizationGO:0301999.4COL1A1, COL1A2
4blood vessel developmentGO:0015689.3COL1A1, COL1A2
5cellular response to amino acid stimulusGO:0712309.3COL1A2, COL1A1
6collagen catabolic processGO:0305749.3COL1A2, COL1A1
7extracellular matrix disassemblyGO:0226179.2COL1A2, COL1A1
8leukocyte migrationGO:0509009.2COL1A1, COL1A2
9skeletal system developmentGO:0015019.1COL1A1, COL1A2
10blood coagulationGO:0075969.1COL1A1, COL1A2
11platelet activationGO:0301689.0COL1A2, COL1A1
12extracellular matrix organizationGO:0301988.8COL1A1, COL1A2

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.1COL1A2, COL1A1
2platelet-derived growth factor bindingGO:0484079.0COL1A2, COL1A1
3extracellular matrix structural constituentGO:0052018.8COL1A2, COL1A1

Products for genes affiliated with Osteogenesis Imperfecta Type 4

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  • Antibodies
  • Proteins
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet