MCID: OST036
MIFTS: 32

Osteogenesis Imperfecta Type 2a malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases categories
Download this MalaCard

Summaries for Osteogenesis Imperfecta Type 2a

About this section


Fully expand this MalaCard
MalaCards based summary: Osteogenesis Imperfecta Type 2a, also known as vrolik type of osteogenesis imperfecta, is related to osteogenesis imperfecta congenita microcephaly and cataracts and col1a1/2-related osteogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta Type 2a 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.

Aliases & Classifications for Osteogenesis Imperfecta Type 2a

About this section

Osteogenesis Imperfecta Type 2a, Aliases & Descriptions:

Name: Osteogenesis Imperfecta Type 2a 42
Vrolik Type of Osteogenesis Imperfecta 42 62
Osteogenesis Imperfecta Congenita Perinatal Lethal Form 42
Osteogenesis Imperfecta, Recessive Perinatal Lethal 62
Osteogenesis Imperfecta Congenita 42
 
Osteogenesis Imperfecta 62
Oi Type Iia 42
Oi Type 2a 42
Oi2a 42


Classifications:



Related Diseases for Osteogenesis Imperfecta Type 2a

About this section

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 2a via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta congenita microcephaly and cataracts10.4
2col1a1/2-related osteogenesis imperfecta10.0COL1A2, COL1A1
3osteogenesis imperfecta type iii10.0COL1A1, COL1A2
4osteogenesis imperfecta, type ii10.0COL1A1, COL1A2
5osteogenesis imperfecta type i10.0COL1A2, COL1A1
6osteogenesis imperfecta type 410.0COL1A2, COL1A1
7ehlers–danlos syndrome classical type10.0COL1A2, COL1A1
8otosclerosis10.0COL1A1, COL1A2
9dentinogenesis imperfecta10.0COL1A2, COL1A1
10ehlers-danlos syndrome9.9COL1A1, COL1A2
11osteogenesis imperfecta9.9COL1A2, COL1A1
12connective tissue disease9.9COL1A1, COL1A2
13pulmonary fibrosis9.9COL1A2, COL1A1
14osteoarthritis9.9COL1A2, COL1A1
15systemic scleroderma9.8COL1A2, COL1A1
16osteoporosis9.8COL1A1, COL1A2

Graphical network of diseases related to Osteogenesis Imperfecta Type 2a:



Diseases related to osteogenesis imperfecta type 2a

Symptoms for Osteogenesis Imperfecta Type 2a

About this section

Drugs & Therapeutics for Osteogenesis Imperfecta Type 2a

About this section

Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta Type 2a

Search NIH Clinical Center for Osteogenesis Imperfecta Type 2a

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Osteogenesis Imperfecta Type 2a

About this section

Anatomical Context for Osteogenesis Imperfecta Type 2a

About this section

Animal Models for Osteogenesis Imperfecta Type 2a or affiliated genes

About this section

MGI Mouse Phenotypes related to Osteogenesis Imperfecta Type 2a:

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

Publications for Osteogenesis Imperfecta Type 2a

About this section

Variations for Osteogenesis Imperfecta Type 2a

About this section

Clinvar genetic disease variations for Osteogenesis Imperfecta Type 2a:

6 (show all 42)
id Gene Name Type Significance SNP ID Assembly Location
1COL1A2NM_000089.3(COL1A2): c.2720G> A (p.Gly907Asp)single nucleotide variantPathogenicrs121912900GRCh37Chr 7, 94054475: 94054475
2COL1A2NM_000089.3(COL1A2): c.1640G> A (p.Gly547Asp)single nucleotide variantPathogenicrs121912901GRCh37Chr 7, 94043234: 94043234
3COL1A2NM_000089.3(COL1A2): c.2593G> A (p.Gly865Ser)single nucleotide variantPathogenicrs121912902GRCh37Chr 7, 94053675: 94053675
4COL1A2NM_000089.3(COL1A2): c.2414G> A (p.Gly805Asp)single nucleotide variantPathogenicrs121912904GRCh37Chr 7, 94052279: 94052279
5COL1A2NM_000089.3(COL1A2): c.775G> T (p.Gly259Cys)single nucleotide variantPathogenicrs121912905GRCh37Chr 7, 94038118: 94038118
6COL1A2NM_000089.3(COL1A2): c.1414G> T (p.Gly472Cys)single nucleotide variantPathogenicrs121912906GRCh37Chr 7, 94041905: 94041905
7COL1A2NM_000089.3(COL1A2): c.2080G> C (p.Gly694Arg)single nucleotide variantPathogenicrs121912908GRCh37Chr 7, 94049545: 94049545
8COL1A2NM_000089.3(COL1A2): c.1739G> A (p.Gly580Asp)single nucleotide variantPathogenicrs121912909GRCh37Chr 7, 94044557: 94044557
9COL1A2NM_000089.3(COL1A2): c.1504G> A (p.Gly502Ser)single nucleotide variantPathogenicrs121912910GRCh37Chr 7, 94042395: 94042395
10COL1A2NM_000089.3(COL1A2): c.1262G> A (p.Gly421Asp)single nucleotide variantPathogenicrs267606741GRCh37Chr 7, 94040378: 94040378
11COL1A1NM_000088.3(COL1A1): c.824G> A (p.Gly275Asp)single nucleotide variantPathogenicrs72645333GRCh37Chr 17, 48274012: 48274012
12COL1A1NM_000088.3(COL1A1): c.1705G> C (p.Gly569Arg)single nucleotide variantPathogenicrs72648363GRCh37Chr 17, 48271366: 48271366
13COL1A1NM_000088.3(COL1A1): c.2210G> A (p.Gly737Asp)single nucleotide variantPathogenicrs72651651GRCh37Chr 17, 48268769: 48268769
14COL1A1NM_000088.3(COL1A1): c.2552G> A (p.Gly851Asp)single nucleotide variantPathogenicrs72653137GRCh37Chr 17, 48267369: 48267369
15COL1A1NM_000088.3(COL1A1): c.2533G> A (p.Gly845Arg)single nucleotide variantPathogenicrs72653136GRCh37Chr 17, 48267388: 48267388
16COL1A1NM_000088.3(COL1A1): c.2605G> T (p.Gly869Cys)single nucleotide variantPathogenicrs72653143GRCh37Chr 17, 48267228: 48267228
17COL1A1NM_000088.3(COL1A1): c.2686G> T (p.Gly896Cys)single nucleotide variantPathogenicrs72653152GRCh37Chr 17, 48266881: 48266881
18COL1A1NM_000088.3(COL1A1): c.2776G> T (p.Gly926Cys)single nucleotide variantPathogenicrs72653154GRCh37Chr 17, 48266791: 48266791
19COL1A1NM_000088.3(COL1A1): c.3073G> A (p.Gly1025Arg)single nucleotide variantPathogenicrs72653172GRCh37Chr 17, 48266129: 48266129
20COL1A1NM_000088.3(COL1A1): c.3182G> A (p.Gly1061Asp)single nucleotide variantPathogenicrs72654797GRCh37Chr 17, 48265916: 48265916
21COL1A1NM_000088.3(COL1A1): c.3244G> T (p.Gly1082Cys)single nucleotide variantPathogenicrs72656303GRCh37Chr 17, 48265474: 48265474
22COL1A1NM_000088.3(COL1A1): c.3271G> A (p.Gly1091Ser)single nucleotide variantPathogenicrs72656306GRCh37Chr 17, 48265335: 48265335
23COL1A1NM_000088.3(COL1A1): c.3496G> T (p.Gly1166Cys)single nucleotide variantPathogenicrs72656324GRCh37Chr 17, 48264411: 48264411
24COL1A1NM_000088.3(COL1A1): c.3559G> A (p.Gly1187Ser)single nucleotide variantPathogenicrs72656332GRCh37Chr 17, 48264256: 48264256
25COL1A1NM_000088.3(COL1A1): c.3583G> T (p.Gly1195Cys)single nucleotide variantPathogenicrs72656334GRCh37Chr 17, 48264232: 48264232
26COL1A1NM_000088.3(COL1A1): c.2156G> A (p.Gly719Asp)single nucleotide variantPathogenicrs72651646GRCh37Chr 17, 48268823: 48268823
27COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
28COL1A1NM_000088.3(COL1A1): c.3541G> A (p.Gly1181Ser)single nucleotide variantPathogenicrs72656330GRCh37Chr 17, 48264274: 48264274
29COL1A1NM_000088.3(COL1A1): c.2444G> T (p.Gly815Val)single nucleotide variantPathogenicrs66929517GRCh37Chr 17, 48267695: 48267695
30COL1A1NM_000088.3(COL1A1): c.787G> A (p.Gly263Arg)single nucleotide variantPathogenicrs72645323GRCh37Chr 17, 48274388: 48274388
31COL1A1NM_000088.3(COL1A1): c.3452G> T (p.Gly1151Val)single nucleotide variantPathogenicrs72656321GRCh37Chr 17, 48264455: 48264455
32COL1A1NM_000088.3(COL1A1): c.1301G> T (p.Gly434Val)single nucleotide variantPathogenicrs72648333GRCh37Chr 17, 48272460: 48272460
33COL1A1NM_000088.3(COL1A1): c.2939G> T (p.Gly980Val)single nucleotide variantPathogenicrs72653166GRCh37Chr 17, 48266370: 48266370
34COL1A1NM_000088.3(COL1A1): c.1777G> A (p.Gly593Ser)single nucleotide variantPathogenicrs66527965GRCh37Chr 17, 48270399: 48270399
35COL1A1NM_000088.3(COL1A1): c.2228G> T (p.Gly743Val)single nucleotide variantPathogenicrs72651653GRCh37Chr 17, 48268751: 48268751
36COL1A1NM_000088.3(COL1A1): c.1598G> A (p.Gly533Asp)single nucleotide variantPathogenicrs72648356GRCh37Chr 17, 48271726: 48271726
37COL1A1NM_000088.3(COL1A1): c.2291G> T (p.Gly764Val)single nucleotide variantPathogenicrs72651657GRCh37Chr 17, 48268230: 48268230
38COL1A1NM_000088.3(COL1A1): c.1200+1G> Asingle nucleotide variantPathogenicrs72648320GRCh37Chr 17, 48272794: 48272794
39COL1A1NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter)single nucleotide variantPathogenicrs72653173GRCh37Chr 17, 48266126: 48266126
40COL1A2NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser)single nucleotide variantPathogenicrs72656387GRCh37Chr 7, 94038679: 94038679
41COL1A1NM_000088.3(COL1A1): c.4247delC (p.Thr1416Argfs)deletionPathogenicrs398122835GRCh37Chr 17, 48263140: 48263140
42COL1A1NM_000088.3(COL1A1): c.4160C> T (p.Ala1387Val)single nucleotide variantPathogenicrs397514672GRCh37Chr 17, 48263227: 48263227

Expression for genes affiliated with Osteogenesis Imperfecta Type 2a

About this section
Expression patterns in normal tissues for genes affiliated with Osteogenesis Imperfecta Type 2a

Search GEO for disease gene expression data for Osteogenesis Imperfecta Type 2a.

Pathways for genes affiliated with Osteogenesis Imperfecta Type 2a

About this section

Pathways related to Osteogenesis Imperfecta Type 2a 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 2a

About this section

Compounds related to Osteogenesis Imperfecta Type 2a according to GeneCards/GeneDecks:

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

GO Terms for genes affiliated with Osteogenesis Imperfecta Type 2a

About this section

Cellular components related to Osteogenesis Imperfecta Type 2a 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 2a 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:0226179.2COL1A1, COL1A2
8leukocyte migrationGO:0509009.2COL1A2, COL1A1
9skeletal system developmentGO:0015019.1COL1A2, COL1A1
10blood coagulationGO:0075969.1COL1A2, COL1A1
11platelet activationGO:0301689.0COL1A1, COL1A2
12extracellular matrix organizationGO:0301988.8COL1A2, COL1A1

Molecular functions related to Osteogenesis Imperfecta Type 2a 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 2a

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Osteogenesis Imperfecta Type 2a

About this section
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