MCID: CLS035
MIFTS: 20

Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae malady

Categories: Genetic diseases, Bone diseases

Aliases & Classifications for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

Aliases & Descriptions for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae:

Name: Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae 24
Classic Non-Deforming Oi with Blue Sclerae 24
Osteogenesis Imperfecta Type I 24
Lobstein's Disease 69
Oi Type I 24

Classifications:



Summaries for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

MalaCards based summary : Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae, also known as classic non-deforming oi with blue sclerae, is related to osteogenesis imperfecta, type i and osteogenesis imperfecta. An important gene associated with Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Development Endothelin-1/EDNRA signaling.

Related Diseases for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

Diseases related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
id Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type i 12.5
2 osteogenesis imperfecta 10.7
3 cngb3-related stargardt disease 1 10.0 COL1A1 COL1A2
4 isolated lissencephaly type 1 without known genetic defects 10.0 COL1A1 COL1A2
5 charcot-marie-tooth neuropathy type 2a 10.0 COL1A1 COL1A2
6 prph2-related retinitis pigmentosa 10.0 COL1A1 COL1A2
7 20p13 microdeletion syndrome 10.0 COL1A1 COL1A2
8 phyh-related refsum disease 10.0 COL1A1 COL1A2
9 epileptic encephalopathy, early infantile, 36 10.0 COL1A1 COL1A2
10 porphyria cutanea tarda 10.0 COL1A1 COL1A2
11 factor xiiia deficiency 10.0 COL1A1 COL1A2
12 human herpesvirus 8 10.0 COL1A1 COL1A2
13 osteogenesis imperfecta, type iii 10.0 COL1A1 COL1A2
14 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 10.0 COL1A1 COL1A2
15 autism susceptibility 16 10.0 COL1A1 COL1A2
16 long qt syndrome 1 10.0 COL1A1 COL1A2
17 muscle hypertrophy 10.0 COL1A1 COL1A2
18 diabetic neuropathy 10.0 COL1A1 COL1A2
19 ceroid lipofuscinosis, neuronal, 11 10.0 COL1A1 COL1A2
20 agraphia 10.0 COL1A1 COL1A2
21 neuropathy, distal hereditary motor, type iia 9.9 COL1A1 COL1A2
22 xanthinuria 9.9 COL1A1 COL1A2
23 deafness, autosomal recessive 61 9.9 COL1A1 COL1A2
24 splenic flexure cancer 9.9 COL1A1 COL1A2
25 mental retardation, autosomal recessive 35 9.9 COL1A1 COL1A2
26 osteogenesis imperfecta, type ii 9.9 COL1A1 COL1A2
27 ehlers-danlos syndrome, cardiac valvular form 9.9 COL1A1 COL1A2
28 bone structure disease 9.9 COL1A1 COL1A2
29 herpes simplex 9.9 COL1A1 COL1A2
30 sclerocornea 9.9 COL1A1 COL1A2
31 thrombosis 9.8
32 vaginitis 9.8
33 kidney disease 9.8
34 autosomal dominant polycystic kidney disease 9.8
35 polycystic kidney disease 9.8
36 tinea manuum 9.8 COL1A1 COL1A2
37 carnitine deficiency, systemic primary 9.8 COL1A1 COL1A2
38 prostatocystitis 9.8 COL1A1 COL1A2
39 clivus meningioma 9.7 COL1A1 COL1A2

Graphical network of the top 20 diseases related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae:



Diseases related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

Symptoms & Phenotypes for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

Drugs & Therapeutics for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

Search Clinical Trials , NIH Clinical Center for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

Genetic Tests for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

Genetic tests related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae:

id Genetic test Affiliating Genes
1 Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae 24 COL1A2

Anatomical Context for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

Publications for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

Variations for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

ClinVar genetic disease variations for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae:

6 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1 COL1A1 NM_000088.3(COL1A1): c.814G> T (p.Gly272Cys) single nucleotide variant Pathogenic rs72645331 GRCh37 Chromosome 17, 48274022: 48274022
2 COL1A1 NM_000088.3(COL1A1): c.4358_4362delAATTC (p.Glu1453Glyfs) deletion Pathogenic rs72656352 GRCh37 Chromosome 17, 48262896: 48262900
3 COL1A1 NM_000088.3(COL1A1): c.1066G> T (p.Gly356Cys) single nucleotide variant Pathogenic rs72645365 GRCh37 Chromosome 17, 48273017: 48273017
4 COL1A1 NM_000088.3(COL1A1): c.3235G> A (p.Gly1079Ser) single nucleotide variant Pathogenic rs72654802 GRCh37 Chromosome 17, 48265483: 48265483
5 COL1A1 COL1A1, IVS26DS, G-A, +1 single nucleotide variant Pathogenic
6 COL1A1 NM_000088.3(COL1A1): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72656314 GRCh37 Chromosome 17, 48264847: 48264847
7 COL1A1 COL1A1, IVS19DS, G-C, +1 single nucleotide variant Pathogenic
8 COL1A1 NM_000088.3(COL1A1): c.2161C> T (p.Gln721Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922145 GRCh37 Chromosome 17, 48268818: 48268818
9 COL1A1 NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter) single nucleotide variant Pathogenic rs794726873 GRCh37 Chromosome 17, 48278784: 48278784
10 COL1A1 NM_000088.3(COL1A1): c.1767+2T> G single nucleotide variant Pathogenic rs794727394 GRCh37 Chromosome 17, 48271302: 48271302
11 COL1A1 NM_000088.3(COL1A1): c.2775delT (p.Gly926Valfs) deletion Pathogenic rs878853274 GRCh37 Chromosome 17, 48266792: 48266792
12 COL1A1 NM_000088.3(COL1A1): c.1678G> A (p.Gly560Ser) single nucleotide variant Pathogenic rs67507747 GRCh37 Chromosome 17, 48271393: 48271393
13 COL1A1 NM_000088.3(COL1A1): c.1875+1G> C single nucleotide variant Pathogenic rs72651622 GRCh37 Chromosome 17, 48270157: 48270157
14 COL1A1 NM_000088.3(COL1A1): c.3567delT (p.Gly1190Valfs) deletion Pathogenic rs886042286 GRCh37 Chromosome 17, 48264248: 48264248
15 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
16 COL1A1 NM_000088.3(COL1A1): c.896delG (p.Gly299Valfs) deletion Pathogenic rs886042473 GRCh37 Chromosome 17, 48273852: 48273852
17 COL1A1 NM_000088.3(COL1A1): c.643-2A> G single nucleotide variant Pathogenic rs886042602 GRCh37 Chromosome 17, 48275148: 48275148
18 COL1A1 NM_000088.3(COL1A1): c.2991delT (p.Gly998Valfs) deletion Pathogenic rs886042603 GRCh37 Chromosome 17, 48266318: 48266318
19 COL1A1 NM_000088.3(COL1A1): c.3939C> A (p.Tyr1313Ter) single nucleotide variant Pathogenic rs886042609 GRCh37 Chromosome 17, 48263744: 48263744
20 COL1A1 NM_000088.3(COL1A1): c.3162delT (p.Gly1055Alafs) deletion Pathogenic rs72654794 GRCh37 Chromosome 17, 48265936: 48265936
21 COL1A1 NM_000088.3(COL1A1): c.2089C> T (p.Arg697Ter) single nucleotide variant Pathogenic rs72651642 GRCh37 Chromosome 17, 48269187: 48269187

Expression for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

Search GEO for disease gene expression data for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae.

Pathways for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

Pathways related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae according to GeneCards Suite gene sharing:

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 COL1A1 COL1A2
2
Show member pathways
12.24 COL1A1 COL1A2
3
Show member pathways
12.2 COL1A1 COL1A2
4
Show member pathways
12.09 COL1A1 COL1A2
5 12.06 COL1A1 COL1A2
6
Show member pathways
11.69 COL1A1 COL1A2
7 11.58 COL1A1 COL1A2
8
Show member pathways
11.49 COL1A1 COL1A2
9 11.45 COL1A1 COL1A2
10 11.42 COL1A1 COL1A2
11 11.2 COL1A1 COL1A2
12 11.15 COL1A1 COL1A2
13 11.03 COL1A1 COL1A2
14 10.86 COL1A1 COL1A2
15 10.75 COL1A1 COL1A2
16 10.47 COL1A1 COL1A2
17 9.98 COL1A1 COL1A2

GO Terms for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

Cellular components related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.32 COL1A1 COL1A2
2 extracellular matrix GO:0031012 9.26 COL1A1 COL1A2
3 endoplasmic reticulum lumen GO:0005788 9.16 COL1A1 COL1A2
4 collagen trimer GO:0005581 8.96 COL1A1 COL1A2
5 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

Biological processes related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.51 COL1A1 COL1A2
2 extracellular matrix organization GO:0030198 9.49 COL1A1 COL1A2
3 regulation of immune response GO:0050776 9.48 COL1A1 COL1A2
4 blood coagulation GO:0007596 9.46 COL1A1 COL1A2
5 skeletal system development GO:0001501 9.43 COL1A1 COL1A2
6 platelet activation GO:0030168 9.4 COL1A1 COL1A2
7 collagen catabolic process GO:0030574 9.37 COL1A1 COL1A2
8 cellular response to amino acid stimulus GO:0071230 9.32 COL1A1 COL1A2
9 blood vessel development GO:0001568 9.26 COL1A1 COL1A2
10 collagen fibril organization GO:0030199 9.16 COL1A1 COL1A2
11 protein heterotrimerization GO:0070208 8.96 COL1A1 COL1A2
12 skin morphogenesis GO:0043589 8.62 COL1A1 COL1A2

Molecular functions related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.16 COL1A1 COL1A2
2 extracellular matrix structural constituent GO:0005201 8.96 COL1A1 COL1A2
3 platelet-derived growth factor binding GO:0048407 8.62 COL1A1 COL1A2

Sources for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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