MCID: OST025
MIFTS: 45

Osteogenesis Imperfecta Type Iii malady

Bone, Fetal categories

Summaries for Osteogenesis Imperfecta Type Iii

Sources:
47OMIM, 33MalaCards
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MalaCards: Osteogenesis Imperfecta Type Iii, also known as osteogenesis imperfecta type 3, is related to osteogenesis imperfecta type i and osteogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta Type Iii is COL1A2 (collagen, type I, alpha 2), and among its related pathways are GPVI-mediated activation cascade and Platelet Adhesion to exposed collagen. The drugs calcitonin and salmon calcitonin and the compounds procollagen and Collagenase have been mentioned in the context of this disorder. Related mouse phenotypes are digestive/alimentary and growth/size.

Description from OMIM:47 259420, 259440, 610682, 610915, 613848 613982, 614856, 615220 more

Aliases & Classifications for Osteogenesis Imperfecta Type Iii

Sources:
64Wikipedia, 43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
osteogenesis imperfecta type 3:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

osteogenesis imperfecta type iii 64 61
osteogenesis imperfecta type 3 43 22 49
oi type iii 43 47
oi type 3 43 49
osteogenesis imperfecta, progressively deforming with normal sclerae 43
progressively deforming osteogenesis imperfecta with normal sclerae 64
progressive deforming osteogenesis imperfecta 49
osteogenesis imperfecta, type iii 47
severe osteogenesis imperfecta 49
osteogenesis imperfecta 61
oi, type iii 45


External Ids:

MESH via Orphanet36 C536044
ICD10 via Orphanet26 Q78.0
SNOMED-CT via Orphanet58 385483009
UMLS via Orphanet62 C0268362

Related Diseases for Osteogenesis Imperfecta Type Iii

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the osteogenesis imperfecta family:

osteogenesis imperfecta type iii 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 sp7-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 Iii via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 152)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta type i31.5COL1A2, COL1A1
2osteogenesis imperfecta31.5SERPINF1, COL1A2, COL1A1, BGLAP, PPIB, CRTAP
3dentinogenesis imperfecta31.2COL1A2, COL1A1, CRTAP, CD36, LEPRE1
4osteogenesis imperfecta, type ii30.8COL1A2, COL1A1
5osteoporosis30.8COL1A2, COL1A1, BGLAP, CD36
6col1a1/2-related osteogenesis imperfecta30.6COL1A2, COL1A1
7idiopathic juvenile osteoporosis30.4COL1A1, BGLAP
8otosclerosis30.4CD36, COL1A1, COL1A2
9osteogenesis imperfecta type 430.2COL1A2, COL1A1
10rickets30.1CD36, BGLAP
11osteoporosis, postmenopausal30.1CD36, BGLAP, COL1A1
12osteoarthritis30.1COL1A2, COL1A1, BGLAP, CD36
13osteogenesis imperfecta type 610.7
14bone fracture10.6
15ehlers-danlos/osteogenesis imperfecta syndrome10.6
16osteogenesis imperfecta type 910.6
17progressively deforming osteogenesis imperfecta10.6
18ehlers–danlos syndrome10.6
19osteogenesis imperfecta type 710.5
20osteogenesis imperfecta type 2a10.5
21osteogenesis imperfecta type xi10.5
22osteogenesis imperfecta type xii10.5
23type i ehlers-danlos syndrome10.5
24osteogenesis imperfecta levin type10.5
25osteogenesis imperfecta type 1a10.5
26osteoporosis-pseudoglioma syndrome10.5
27osteogenesis imperfecta type x10.5
28osteogenesis imperfecta type 2b10.4
29high bone mass osteogenesis imperfecta10.4
30reflex sympathetic dystrophy10.3
31osteonecrosis10.3
32spondylolysis10.3
33dentinogenesis imperfecta 110.3
34crtap-related osteogenesis imperfecta10.3
35perinatally lethal osteogenesis imperfecta10.3
36congenital osteogenesis imperfecta - microcephaly - cataracts10.3
37brachydactyly10.3
38brachydactyly type c10.3
39brachydactyly type b10.3
40brachydactyly type e10.3
41cerebellar hypoplasia10.3
42spondylolisthesis10.3
43thanatophoric dysplasia10.3
44triple-a syndrome10.3
45fibrous dysplasia10.3
46aortic aneurysm10.3
47al gazali sabrinathan nair syndrome10.3
48chondrodysplasia10.3
49laryngomalacia10.3
50elastosis perforans serpiginosa10.3

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



Diseases related to osteogenesis imperfecta type iii

Clinical Features for Osteogenesis Imperfecta Type Iii

Sources:
47OMIM
See all sources

Clinical features from OMIM:

259420,259440,610682,610915,613848,613982,614856,615220

Clinical synopsis from OMIM:

259420

Drugs & Therapeutics for Osteogenesis Imperfecta Type Iii

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Osteogenesis Imperfecta Type Iii

Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta Type Iii

Search NIH Clinical Center for Osteogenesis Imperfecta Type Iii

Search CenterWatch for Osteogenesis Imperfecta Type Iii

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Osteogenesis Imperfecta Type Iii

Sources:
22GTR
See all sources

Genetic tests related to Osteogenesis Imperfecta Type Iii:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type Iii22

Anatomical Context for Osteogenesis Imperfecta Type Iii

Animal Models for Osteogenesis Imperfecta Type Iii or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Osteogenesis Imperfecta Type Iii:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.5CD36, SERPINF1, COL1A1, SERPINH1, BMP1
2MP:00053786.6SERPINH1, BMP1, LEPRE1, CD36, CRTAP, COL1A2
3MP:00053906.5COL1A2, SERPINH1, LEPRE1, WNT1, CD36, CRTAP

Publications for Osteogenesis Imperfecta Type Iii

Genetic Variations for Osteogenesis Imperfecta Type Iii

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Osteogenesis Imperfecta Type Iii:

63 (show all 41)
id Symbol AA change Variation SNP ID
1COL1A1p.Gly332ArgVAR_001650
2COL1A1p.Gly350ArgVAR_001651
3COL1A1p.Gly530SerVAR_001666
4COL1A1p.Gly593CysVAR_001673
5COL1A1p.Gly593SerVAR_001674
6COL1A1p.Gly704CysVAR_001678
7COL1A1p.Gly719SerVAR_001680
8COL1A1p.Gly767SerVAR_001686
9COL1A1p.Gly821SerVAR_001690
10COL1A1p.Gly884SerVAR_001697
11COL1A1p.Gly1022SerVAR_001702
12COL1A1p.Gly1040SerVAR_001705
13COL1A1p.Gly1049SerVAR_001708
14COL1A1p.Gly1058SerVAR_001709
15COL1A1p.Gly1076SerVAR_001713
16COL1A1p.Gly1151SerVAR_001722
17COL1A1p.Gly1187SerVAR_001729
18COL1A1p.Leu1464ProVAR_001737
19COL1A1p.Gly866SerVAR_008118
20COL1A1p.Gly203ValVAR_063295
21COL1A2p.Gly337CysVAR_001857
22COL1A2p.Gly337SerVAR_001858
23COL1A2p.Gly349CysVAR_001860
24COL1A2p.Gly460SerVAR_001863
25COL1A2p.Gly517ArgVAR_001865
26COL1A2p.Gly676ValVAR_001875
27COL1A2p.Gly778SerVAR_001884
28COL1A2p.Gly892AspVAR_001892
29COL1A2p.Gly949SerVAR_001894
30COL1A2p.Gly1012SerVAR_001897
31COL1A2p.Gly1096AlaVAR_001901
32COL1A2p.Thr1148ProVAR_001904rs1800250
33COL1A2p.Gly331AspVAR_008119
34COL1A2p.Gly973ValVAR_008120
35COL1A2p.Gly358SerVAR_063352
36COL1A2p.Gly676AspVAR_063361
37COL1A2p.Gly820SerVAR_063370
38COL1A2p.Gly835CysVAR_063371
39COL1A2p.Gly856ArgVAR_063372
40COL1A2p.Gly991ValVAR_063377
41COL1A2p.Gly1087AspVAR_063381

Expression for genes affiliated with Osteogenesis Imperfecta Type Iii

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Osteogenesis Imperfecta Type Iii

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

Pathways for genes affiliated with Osteogenesis Imperfecta Type Iii

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 50PharmGKB, 52QIAGEN
See all sources

Compounds for genes affiliated with Osteogenesis Imperfecta Type Iii

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 24HMDB, 50PharmGKB
See all sources

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

(show all 43)
idCompoundScoreTop Affiliating Genes
1procollagen4510.7COL1A2
2Collagenase1110.4COL1A1, COL1A2
3nppa4510.4COL1A2, COL1A1
4nppb45 60 2912.3COL1A1, COL1A2
5xbai4510.2COL1A1, COL1A2
6ecori4510.1COL1A1, COL1A2
7rsai4510.0COL1A2, COL1A1
8L-Proline11 2410.8PPIB, LEPRE1
9cyanogen bromide459.8COL1A2, CD36
10ti6al4v459.7BGLAP, CD36
11simvastatin45 50 60 29 11 2414.7BGLAP, COL1A1, COL1A2
1222-oxacalcitriol459.7CD36, BGLAP
13etidronate459.7CD36, BGLAP
14teriparatide45 1110.7CD36, BGLAP
15ibandronate45 1110.7BGLAP, CD36
16alizarin459.7CD36, BGLAP
17calcium carbonate459.7CD36, BGLAP
18vitamin k2459.7BGLAP, CD36
19tartrate459.7BGLAP, CD36
20glycosaminoglycan459.7COL1A1, CD36, SERPINF1
21pamidronate45 50 1111.7BGLAP, CD36
22polyglycolic acid459.6BGLAP, CD36
23risedronate45 60 50 29 1113.6CD36, BGLAP
24clodronate45 50 1111.6CD36, BGLAP
25chitosan459.6CD36, BGLAP
26carbodiimide459.6RNASE1, COL1A1, COL1A2
27pyridinoline459.5CD36, BGLAP
28hydroxyproline45 11 2411.5COL1A1, BGLAP, CD36
29titanium459.3CD36, BGLAP
30zoledronic acid459.3CD36, BGLAP
31vitamin d459.2CD36, BGLAP, COL1A1, COL1A2
32acetone459.1CD36, RNASE1
33ascorbic acid45 2410.1SERPINH1, LEPRE1, CD36, BGLAP
34deoxypyridinoline459.0CD36, BGLAP
35oligonucleotide458.9COL1A2, COL1A1, RNASE1, WNT1, SERPINH1
36retinoic acid45 249.7COL1A1, BGLAP, CD36, WNT1, SERPINF1
37aspartate458.5RNASE1, BMP1, BGLAP, COL1A1, COL1A2
38h2o2458.1BGLAP, CD36, RNASE1, SERPINF1
39vegf458.1COL1A1, BGLAP, CD36, RNASE1, SERPINH1, SERPINF1
40heparin45 29 11 2410.7BGLAP, BMP1, PPIB, CD36, RNASE1, SERPINF1
41cysteine457.6COL1A2, COL1A1, BGLAP, BMP1, CD36, RNASE1
42calcium45 50 11 2410.5COL1A2, COL1A1, BGLAP, BMP1, CD36, RNASE1
43serine457.3COL1A2, COL1A1, BGLAP, BMP1, CD36, RNASE1

GO Terms for genes affiliated with Osteogenesis Imperfecta Type Iii

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:00558410.0COL1A2, COL1A1
2extracellular matrixGO:0310129.7SERPINF1, COL1A1, COL1A2
3proteinaceous extracellular matrixGO:0055788.6BMP1, CRTAP, WNT1, LEPRE1
4endoplasmic reticulum lumenGO:0057888.3SERPINH1, COL1A2, COL1A1, PPIB, CRTAP, WNT1
5extracellular spaceGO:0056158.0COL1A2, COL1A1, BGLAP, BMP1, WNT1, SERPINH1
6extracellular regionGO:0055767.4COL1A2, COL1A1, BGLAP, BMP1, RNASE1, WNT1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:04358910.1COL1A2, COL1A1
2protein heterotrimerizationGO:07020810.1COL1A1, COL1A2
3collagen biosynthetic processGO:03296410.1COL1A1, SERPINH1
4negative regulation of cell-substrate adhesionGO:0108129.9WNT1, COL1A1
5collagen fibril organizationGO:0301999.6COL1A2, COL1A1, LEPRE1, SERPINH1
6regulation of bone mineralizationGO:0305009.5BGLAP, CREB3L1
7bone developmentGO:0603489.5WNT1, BGLAP
8odontogenesisGO:0424769.4BGLAP, COL1A2
9platelet activationGO:0301689.3CD36, COL1A1, COL1A2
10skeletal system developmentGO:0015019.1BMP1, BGLAP, COL1A1, COL1A2
11extracellular matrix organizationGO:0301988.2SERPINH1, LEPRE1, CRTAP, PPIB, BMP1, COL1A1

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:04840710.0COL1A1, COL1A2

Products for genes affiliated with Osteogenesis Imperfecta Type Iii

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Osteogenesis Imperfecta Type Iii

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet