MCID: OST080
MIFTS: 37

Osteogenesis Imperfecta, Type Ii malady

Bone, Fetal categories

Summaries for Osteogenesis Imperfecta, Type Ii

Sources:
47OMIM, 33MalaCards
See all sources

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MalaCards: Osteogenesis Imperfecta, Type Ii, also known as osteogenesis imperfecta type 2, is related to osteogenesis imperfecta type i and osteogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta, Type Ii is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Scavenging by Class A Receptors and Anchoring fibril formation. The drugs calcitonin and salmon calcitonin and the compounds Collagenase and nppa have been mentioned in the context of this disorder. Related mouse phenotypes are integument and muscle.

Description from OMIM:47 166210,259440,610682,610915

Aliases & Classifications for Osteogenesis Imperfecta, Type Ii

Sources:
61UMLS, 47OMIM, 45Novoseek, 49Orphanet, 26ICD10 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 2:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

osteogenesis imperfecta, type ii 47 45
osteogenesis imperfecta type 2 49
lethal osteogenesis imperfecta 49
osteogenesis imperfecta 61
oi type 2 49


External Ids:

ICD10 via Orphanet26 Q78.0

Related Diseases for Osteogenesis Imperfecta, Type Ii

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 Ii via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta type i31.3COL1A2, COL1A1
2osteogenesis imperfecta31.2CD36, COL1A2, CRTAP, COL1A1, PPIB, LEPRE1
3dentinogenesis imperfecta31.2COL1A1, CRTAP, COL1A2, CD36, LEPRE1
4osteogenesis imperfecta type iii31.0COL1A1, COL1A2
5osteoporosis30.8CD36, COL1A1, COL1A2
6osteogenesis imperfecta type 430.8COL1A1, COL1A2
7col1a1/2-related osteogenesis imperfecta30.6COL1A1, COL1A2
8idiopathic juvenile osteoporosis30.4CD36, COL1A2
9otosclerosis30.3COL1A2, CD36, COL1A1
10achondroplasia30.1FGFR3
11osteoporosis, postmenopausal30.1CD36, COL1A1
12marfan syndrome30.1CD36, COL1A2
13osteogenesis imperfecta type 610.7
14bone fracture10.6
15ehlers-danlos/osteogenesis imperfecta syndrome10.6
16osteogenesis imperfecta type 910.6
17osteogenesis imperfecta type 510.6
18ehlers–danlos syndrome10.6
19osteogenesis imperfecta type 810.6
20osteogenesis imperfecta type 710.5
21osteogenesis imperfecta type xiii10.5
22osteogenesis imperfecta type 2a10.5
23osteogenesis imperfecta type xi10.5
24osteogenesis imperfecta type xii10.5
25type i ehlers-danlos syndrome10.5
26osteogenesis imperfecta levin type10.5
27osteogenesis imperfecta type 1a10.5
28osteoporosis-pseudoglioma syndrome10.5
29osteogenesis imperfecta type x10.5
30osteogenesis imperfecta, type xiv10.5
31osteogenesis imperfecta type 2b10.4
32osteogenesis imperfecta, type xv10.4
33high bone mass osteogenesis imperfecta10.4
34reflex sympathetic dystrophy10.3
35osteonecrosis10.3
36spondylolysis10.3
37hypophosphatasia10.3
38dentinogenesis imperfecta 110.3
39cerebellar hypoplasia10.3
40crtap-related osteogenesis imperfecta10.3
41perinatally lethal osteogenesis imperfecta10.3
42progressively deforming osteogenesis imperfecta10.3
43congenital osteogenesis imperfecta - microcephaly - cataracts10.3
44thanatophoric dysplasia10.3
45chondrodysplasia10.3
46spondylolisthesis10.3
47triple-a syndrome10.3
48fibrous dysplasia10.3
49aortic aneurysm10.3
50al gazali sabrinathan nair syndrome10.3

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



Diseases related to osteogenesis imperfecta, type ii

Clinical Features for Osteogenesis Imperfecta, Type Ii

Sources:
47OMIM
See all sources

Clinical features from OMIM:

166210,259440,610682,610915

Clinical synopsis from OMIM:

166210

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Ii

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

Approved drugs:

Search CenterWatch for Osteogenesis Imperfecta, Type Ii

Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta, Type Ii

Search NIH Clinical Center for Osteogenesis Imperfecta, Type Ii

Search CenterWatch for Osteogenesis Imperfecta, Type Ii

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Osteogenesis Imperfecta, Type Ii

Anatomical Context for Osteogenesis Imperfecta, Type Ii

Animal Models for Osteogenesis Imperfecta, Type Ii or affiliated genes

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

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Ii:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001077110.0COL1A1
2MP:00053698.4LEPRE1, CD36, COL1A1, COL1A2
3MP:00053718.4COL1A2, COL1A1, FGFR3, LEPRE1
4MP:00053907.8LEPRE1, FGFR3, CD36, CRTAP, COL1A2
5MP:00053786.7COL1A2, COL1A1, PPIB, CRTAP, CD36, FGFR3

Publications for Osteogenesis Imperfecta, Type Ii

Genetic Variations for Osteogenesis Imperfecta, Type Ii

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Osteogenesis Imperfecta, Type Ii:

63 (show all 120)
id Symbol AA change Variation SNP ID
1COL1A1p.Gly275AspVAR_001649
2COL1A1p.Gly389ArgVAR_001656
3COL1A1p.Gly398AspVAR_001658
4COL1A1p.Gly422CysVAR_001661
5COL1A1p.Gly425SerVAR_001662
6COL1A1p.Gly434ValVAR_001663
7COL1A1p.Gly476ArgVAR_001664rs57377812
8COL1A1p.Gly530SerVAR_001666
9COL1A1p.Gly533AspVAR_001667
10COL1A1p.Gly560ArgVAR_001670
11COL1A1p.Gly569ArgVAR_001672
12COL1A1p.Gly593SerVAR_001674
13COL1A1p.Gly656SerVAR_001676
14COL1A1p.Gly719AspVAR_001679
15COL1A1p.Gly728ArgVAR_001681
16COL1A1p.Gly737AspVAR_001682
17COL1A1p.Gly743SerVAR_001683
18COL1A1p.Gly743ValVAR_001684
19COL1A1p.Gly764ValVAR_001685
20COL1A1p.Gly776SerVAR_001687
21COL1A1p.Gly809SerVAR_001688
22COL1A1p.Gly815ValVAR_001689
23COL1A1p.Gly839SerVAR_001692
24COL1A1p.Gly842ArgVAR_001693
25COL1A1p.Gly845ArgVAR_001694
26COL1A1p.Gly851AspVAR_001695
27COL1A1p.Gly869CysVAR_001696
28COL1A1p.Gly884SerVAR_001697
29COL1A1p.Gly896CysVAR_001698
30COL1A1p.Gly926CysVAR_001699
31COL1A1p.Gly980ValVAR_001700
32COL1A1p.Gly1022ValVAR_001703
33COL1A1p.Gly1025ArgVAR_001704
34COL1A1p.Gly1040SerVAR_001705
35COL1A1p.Gly1043SerVAR_001706
36COL1A1p.Gly1061AspVAR_001710
37COL1A1p.Gly1079SerVAR_001714
38COL1A1p.Gly1082CysVAR_001715
39COL1A1p.Gly1088AlaVAR_001716
40COL1A1p.Gly1091SerVAR_001717
41COL1A1p.Gly1100AspVAR_001718
42COL1A1p.Gly1106AlaVAR_001719
43COL1A1p.Gly1124CysVAR_001720
44COL1A1p.Gly1142SerVAR_001721
45COL1A1p.Gly1151ValVAR_001723
46COL1A1p.Gly1154ArgVAR_001724
47COL1A1p.Gly1166CysVAR_001725
48COL1A1p.Gly1172AspVAR_001726
49COL1A1p.Gly1181SerVAR_001727
50COL1A1p.Gly1184ValVAR_001728
51COL1A1p.Gly1187SerVAR_001729
52COL1A1p.Gly1187ValVAR_001730
53COL1A1p.Asp1277HisVAR_001732
54COL1A1p.Trp1312CysVAR_001733
55COL1A1p.Leu1388ArgVAR_001735
56COL1A1p.Gly866SerVAR_008118
57COL1A1p.Gly22ArgVAR_063290
58COL1A1p.Gly353AspVAR_063305
59COL1A1p.Gly368ValVAR_063307
60COL1A1p.Gly455AspVAR_063309
61COL1A1p.Gly470ValVAR_063310
62COL1A1p.Gly509ValVAR_063311
63COL1A1p.Gly548AlaVAR_063312
64COL1A1p.Gly581ArgVAR_063315
65COL1A1p.Gly602ArgVAR_063316
66COL1A1p.Gly605AspVAR_063317
67COL1A1p.Gly614ArgVAR_063318
68COL1A1p.Gly734ValVAR_063322
69COL1A1p.Gly740ArgVAR_063323
70COL1A1p.Gly824ArgVAR_063324
71COL1A1p.Gly833AspVAR_063325
72COL1A1p.Gly875SerVAR_063327
73COL1A1p.Gly896AspVAR_063328
74COL1A1p.Gly947CysVAR_063330
75COL1A1p.Gly977AspVAR_063331
76COL1A1p.Gly1001CysVAR_063332
77COL1A1p.Gly1055AspVAR_063334
78COL1A1p.Gly1094SerVAR_063337
79COL1A1p.Asp1413AsnVAR_063341
80COL1A1p.Gly848ArgVAR_063342
81COL1A2p.Gly334CysVAR_001856
82COL1A2p.Gly409ValVAR_001861
83COL1A2p.Gly433GluVAR_001862
84COL1A2p.Gly511AspVAR_001864
85COL1A2p.Gly547ArgVAR_001866
86COL1A2p.Gly562CysVAR_001868
87COL1A2p.Gly586ArgVAR_001869
88COL1A2p.Gly592SerVAR_001870
89COL1A2p.Gly637AspVAR_001872
90COL1A2p.Gly640SerVAR_001873
91COL1A2p.Gly670AspVAR_001874
92COL1A2p.Gly715AspVAR_001877
93COL1A2p.Gly730CysVAR_001878
94COL1A2p.Gly754ArgVAR_001882
95COL1A2p.Gly784ArgVAR_001885
96COL1A2p.Gly787CysVAR_001886
97COL1A2p.Gly790AspVAR_001887
98COL1A2p.Gly796SerVAR_001888
99COL1A2p.Gly877CysVAR_001891
100COL1A2p.Gly895AspVAR_001893
101COL1A2p.Gly955SerVAR_001895
102COL1A2p.Gly997AspVAR_001896
103COL1A2p.Gly1066AspVAR_001899
104COL1A2p.Gly1078CysVAR_001900
105COL1A2p.Arg234CysVAR_063345
106COL1A2p.Gly253AspVAR_063347
107COL1A2p.Gly283ArgVAR_063349
108COL1A2p.Gly397GluVAR_063353
109COL1A2p.Gly454CysVAR_063354
110COL1A2p.Gly457LeuVAR_063355
111COL1A2p.Gly526GluVAR_063357
112COL1A2p.Gly562ValVAR_063358
113COL1A2p.Gly625AspVAR_063360
114COL1A2p.Gly739ArgVAR_063364
115COL1A2p.Gly748ValVAR_063365
116COL1A2p.Gly856ValVAR_063373
117COL1A2p.Gly955AspVAR_063374
118COL1A2p.Gly982AspVAR_063375
119COL1A2p.Gly1003AspVAR_063378
120COL1A2p.Gly1027GluVAR_063379

Expression for genes affiliated with Osteogenesis Imperfecta, Type Ii

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

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

Pathways for genes affiliated with Osteogenesis Imperfecta, Type Ii

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

Pathways related to Osteogenesis Imperfecta, Type Ii according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7COL1A1, COL1A2
29.7COL1A1, COL1A2
3
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
Hide members
9.7COL1A1, COL1A2
49.7COL1A1, COL1A2
5
Hide members
9.7COL1A2, COL1A1
6
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
9.7COL1A2, COL1A1
79.7COL1A2, COL1A1
89.7COL1A2, COL1A1
99.7COL1A2, COL1A1
109.7COL1A2, COL1A1
119.7COL1A2, COL1A1
129.2FGFR3, COL1A1, COL1A2
13
Hide members
9.2FGFR3, COL1A2, COL1A1
148.9CD36, COL1A1, COL1A2
158.9COL1A2, COL1A1, CD36
16
Hide members
8.9COL1A2, CD36, COL1A1
17
Hide members
8.1PPIB, COL1A2, COL1A1, CRTAP, LEPRE1

Compounds for genes affiliated with Osteogenesis Imperfecta, Type Ii

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

Compounds related to Osteogenesis Imperfecta, Type Ii according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1Collagenase1110.0COL1A2, COL1A1
2nppa459.9COL1A2, COL1A1
3carbodiimide459.9COL1A1, COL1A2
4nppb45 60 2911.9COL1A2, COL1A1
5xbai459.9COL1A2, COL1A1
6ecori459.8COL1A2, COL1A1
7rsai459.8COL1A1, COL1A2
8mspi459.6COL1A2, COL1A1
9L-Proline11 2410.5LEPRE1, PPIB
10cyanogen bromide459.5COL1A2, CD36
11hydroxyproline45 11 2411.2COL1A1, CD36
12procollagen459.1COL1A2, CD36, COL1A1
13vitamin d458.9CD36, COL1A1, COL1A2
14cysteine458.0COL1A2, COL1A1, CD36, FGFR3

GO Terms for genes affiliated with Osteogenesis Imperfecta, Type Ii

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:0055849.7COL1A1, COL1A2
2endoplasmic reticulum lumenGO:0057887.8LEPRE1, CRTAP, PPIB, COL1A1, COL1A2

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.9COL1A1, COL1A2
2protein heterotrimerizationGO:0702089.9COL1A1, COL1A2
3cellular response to amino acid stimulusGO:0712309.8COL1A2, COL1A1
4blood vessel developmentGO:0015689.8COL1A1, COL1A2
5endochondral ossificationGO:0019589.7COL1A1, FGFR3
6extracellular matrix disassemblyGO:0226179.7COL1A1, COL1A2
7positive regulation of canonical Wnt receptor signaling pathwayGO:0902639.6FGFR3, COL1A1
8collagen fibril organizationGO:0301999.5COL1A2, LEPRE1, COL1A1
9collagen catabolic processGO:0305749.4COL1A1, COL1A2
10skeletal system developmentGO:0015019.4FGFR3, COL1A1, COL1A2
11positive regulation of MAPK cascadeGO:0434109.1FGFR3, CD36
12platelet activationGO:0301689.1COL1A1, CD36, COL1A2
13blood coagulationGO:0075968.8COL1A2, COL1A1, CD36
14extracellular matrix organizationGO:0301988.4PPIB, CRTAP, COL1A1, COL1A2, LEPRE1

Molecular functions related to Osteogenesis Imperfecta, Type Ii 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 Ii

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Osteogenesis Imperfecta, Type Ii

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