MCID: CLS035
MIFTS: 20

Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

Categories: Genetic diseases, Bone diseases

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

MalaCards integrated aliases 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 Development Angiotensin activation of ERK and Collagen chain trimerization.

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 12.6
2 osteogenesis imperfecta 10.7
3 congenital erosive and vesicular dermatosis 9.9 COL1A1 COL1A2
4 cln12 disease 9.9 COL1A1 COL1A2
5 carbonic anhydrase va deficiency 9.9 COL1A1 COL1A2
6 prpf3-related retinitis pigmentosa 9.9 COL1A1 COL1A2
7 pens syndrome 9.9 COL1A1 COL1A2
8 pfn1-related amyotrophic lateral sclerosis 9.9 COL1A1 COL1A2
9 epilepsy with neurodevelopmental defects 9.9 COL1A1 COL1A2
10 deafness, autosomal recessive 91 9.9 COL1A1 COL1A2
11 osteogenesis imperfecta, type viii 9.9 COL1A1 COL1A2
12 osteogenesis imperfecta, type iv 9.9 COL1A1 COL1A2
13 human herpesvirus 8 9.9 COL1A1 COL1A2
14 pontocerebellar hypoplasia, type 2e 9.9 COL1A1 COL1A2
15 immunodeficiency 39 9.8 COL1A1 COL1A2
16 mental retardation, autosomal recessive 35 9.8 COL1A1 COL1A2
17 thrombosis 9.8
18 vaginitis 9.8
19 kidney disease 9.8
20 autosomal dominant polycystic kidney disease 9.8
21 polycystic kidney disease 9.8
22 physical urticaria 9.8 COL1A1 COL1A2
23 muscle hypertrophy 9.8 COL1A1 COL1A2
24 osteogenesis imperfecta, type iii 9.8 COL1A1 COL1A2
25 diabetic foot ulcers 9.8 COL1A1 COL1A2
26 splenic flexure cancer 9.8 COL1A1 COL1A2
27 carnitine palmitoyltransferase ii deficiency 9.8 COL1A1 COL1A2
28 sulfite oxidase deficiency 9.8 COL1A1 COL1A2
29 ehlers-danlos syndrome, cardiac valvular form 9.7 COL1A1 COL1A2
30 osteogenesis imperfecta, type ii 9.7 COL1A1 COL1A2
31 caffey disease 9.7 COL1A1 COL1A2
32 chronic fatigue syndrome 9.7 COL1A1 COL1A2
33 ischemic bone disease 9.7 COL1A1 COL1A2
34 fg syndrome 5 9.6 COL1A1 COL1A2
35 tinea manuum 9.6 COL1A1 COL1A2
36 prostatocystitis 9.5 COL1A1 COL1A2
37 chylomicron retention disease 9.5 COL1A1 COL1A2
38 sclerosteosis 9.4 COL1A1 COL1A2
39 vaginal spindle cell epithelioma 9.2 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 top 50) (show all 84)
id Gene Variation Type Significance SNP ID Assembly Location
1 COL1A1 COL1A1, IVS26DS, G-A, +1 single nucleotide variant Pathogenic
2 COL1A1 NM_000088.3(COL1A1): c.814G> T (p.Gly272Cys) single nucleotide variant Pathogenic rs72645331 GRCh37 Chromosome 17, 48274022: 48274022
3 COL1A1 NM_000088.3(COL1A1): c.4358_4362delAATTC (p.Glu1453Glyfs) deletion Pathogenic rs72656352 GRCh37 Chromosome 17, 48262896: 48262900
4 COL1A1 NM_000088.3(COL1A1): c.1066G> T (p.Gly356Cys) single nucleotide variant Pathogenic rs72645365 GRCh37 Chromosome 17, 48273017: 48273017
5 COL1A1 NM_000088.3(COL1A1): c.3235G> A (p.Gly1079Ser) single nucleotide variant Pathogenic rs72654802 GRCh37 Chromosome 17, 48265483: 48265483
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.579delT (p.Gly194Valfs) deletion Pathogenic/Likely pathogenic rs72667023 GRCh37 Chromosome 17, 48275531: 48275531
10 COL1A1 NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter) single nucleotide variant Pathogenic rs794726873 GRCh37 Chromosome 17, 48278784: 48278784
11 COL1A1 NM_000088.3(COL1A1): c.1767+2T> G single nucleotide variant Pathogenic rs794727394 GRCh37 Chromosome 17, 48271302: 48271302
12 COL1A1 NM_000088.3(COL1A1): c.2775delT (p.Gly926Valfs) deletion Pathogenic rs878853274 GRCh37 Chromosome 17, 48266792: 48266792
13 COL1A2 NM_000089.3(COL1A2): c.577G> A (p.Gly193Ser) single nucleotide variant Pathogenic rs72656370 GRCh37 Chromosome 7, 94035598: 94035598
14 COL1A1 NM_000088.3(COL1A1): c.1678G> A (p.Gly560Ser) single nucleotide variant Pathogenic rs67507747 GRCh38 Chromosome 17, 50194032: 50194032
15 COL1A1 NM_000088.3(COL1A1): c.1875+1G> C single nucleotide variant Pathogenic rs72651622 GRCh37 Chromosome 17, 48270157: 48270157
16 COL1A1 NM_000088.3(COL1A1): c.3567delT (p.Gly1190Valfs) deletion Pathogenic rs886042286 GRCh37 Chromosome 17, 48264248: 48264248
17 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
18 COL1A1 NM_000088.3(COL1A1): c.896delG (p.Gly299Valfs) deletion Pathogenic rs886042473 GRCh37 Chromosome 17, 48273852: 48273852
19 COL1A1 NM_000088.3(COL1A1): c.643-2A> G single nucleotide variant Pathogenic rs886042602 GRCh37 Chromosome 17, 48275148: 48275148
20 COL1A1 NM_000088.3(COL1A1): c.2991delT (p.Gly998Valfs) deletion Pathogenic rs886042603 GRCh37 Chromosome 17, 48266318: 48266318
21 COL1A1 NM_000088.3(COL1A1): c.3939C> A (p.Tyr1313Ter) single nucleotide variant Pathogenic rs886042609 GRCh37 Chromosome 17, 48263744: 48263744
22 COL1A1 NM_000088.3(COL1A1): c.3162delT (p.Gly1055Alafs) deletion Pathogenic rs72654794 GRCh37 Chromosome 17, 48265936: 48265936
23 COL1A1 NM_000088.3(COL1A1): c.2089C> T (p.Arg697Ter) single nucleotide variant Pathogenic rs72651642 GRCh37 Chromosome 17, 48269187: 48269187
24 COL1A1 NM_000088.3(COL1A1): c.1354-12G> A single nucleotide variant Pathogenic rs72648337 GRCh37 Chromosome 17, 48272201: 48272201
25 COL1A2 NM_000089.3(COL1A2): c.326G> A (p.Gly109Asp) single nucleotide variant Pathogenic rs1114167416 GRCh38 Chromosome 7, 94404694: 94404694
26 COL1A2 NM_000089.3(COL1A2): c.793G> C (p.Gly265Arg) single nucleotide variant Pathogenic rs1114167417 GRCh37 Chromosome 7, 94038634: 94038634
27 COL1A2 NM_000089.3(COL1A2): c.856G> A (p.Gly286Ser) single nucleotide variant Pathogenic rs1114167418 GRCh37 Chromosome 7, 94038697: 94038697
28 COL1A2 NM_000089.3(COL1A2): c.1009G> A (p.Gly337Ser) single nucleotide variant Pathogenic rs67865220 GRCh37 Chromosome 7, 94039107: 94039107
29 COL1A2 NM_000089.3(COL1A2): c.1197+5G> A single nucleotide variant Pathogenic rs68132885 GRCh38 Chromosome 7, 94410532: 94410532
30 COL1A2 NM_000089.3(COL1A2): c.1801G> A (p.Gly601Ser) single nucleotide variant Pathogenic rs72658143 GRCh37 Chromosome 7, 94045753: 94045753
31 COL1A2 NM_000089.3(COL1A2): c.2835+1G> A single nucleotide variant Pathogenic rs72659310 GRCh38 Chromosome 7, 94425664: 94425664
32 COL1A2 NM_000089.3(COL1A2): c.3304G> T (p.Gly1102Cys) single nucleotide variant Pathogenic rs67768540 GRCh38 Chromosome 7, 94427663: 94427663
33 COL1A1 NM_000088.3(COL1A1): c.4386delC (p.Phe1463Serfs) deletion Pathogenic rs1114167406 GRCh37 Chromosome 17, 48262872: 48262872
34 COL1A1 NM_000088.3(COL1A1): c.4332dup (p.Asp1446Glyfs) duplication Pathogenic rs1114167405 GRCh37 Chromosome 17, 48262926: 48262926
35 COL1A1 NM_000088.3(COL1A1): c.3815G> T (p.Gly1272Val) single nucleotide variant Pathogenic rs1114167402 GRCh38 Chromosome 17, 50186507: 50186507
36 COL1A1 NM_000088.3(COL1A1): c.3790A> G (p.Met1264Val) single nucleotide variant Pathogenic rs72656340 GRCh38 Chromosome 17, 50186664: 50186664
37 COL1A1 NM_000088.3(COL1A1): c.3788delA (p.Lys1263Argfs) deletion Pathogenic rs1114167401 GRCh38 Chromosome 17, 50186666: 50186666
38 COL1A1 NM_000088.3(COL1A1): c.3748_3752dup (p.Ser1251Argfs) duplication Pathogenic rs1114167400 GRCh38 Chromosome 17, 50186702: 50186706
39 COL1A1 NM_000088.3(COL1A1): c.3607C> T (p.Gln1203Ter) single nucleotide variant Pathogenic rs1114167399 GRCh38 Chromosome 17, 50186847: 50186847
40 COL1A1 NM_000088.3(COL1A1): c.3505G> A (p.Gly1169Ser) single nucleotide variant Pathogenic rs67815019 GRCh37 Chromosome 17, 48264402: 48264402
41 COL1A1 NM_000088.3(COL1A1): c.3424-6C> G single nucleotide variant Pathogenic rs370865189 GRCh38 Chromosome 17, 50187128: 50187128
42 COL1A1 NM_000088.3(COL1A1): c.3233_3236delTCGG (p.Val1078Alafs) deletion Pathogenic rs1114167398 GRCh37 Chromosome 17, 48265482: 48265485
43 COL1A1 NM_000088.3(COL1A1): c.3045+1G> A single nucleotide variant Pathogenic rs1114167382 GRCh37 Chromosome 17, 48266263: 48266263
44 COL1A1 NM_000088.3(COL1A1): c.3026delC (p.Pro1009Leufs) deletion Pathogenic rs1114167396 GRCh37 Chromosome 17, 48266283: 48266283
45 COL1A1 NM_000088.3(COL1A1): c.2934delC (p.Ser979Leufs) deletion Pathogenic rs1114167395 GRCh37 Chromosome 17, 48266532: 48266532
46 COL1A1 NM_000088.3(COL1A1): c.2881delG (p.Val961Serfs) deletion Pathogenic rs1114167381 GRCh37 Chromosome 17, 48266585: 48266585
47 COL1A1 NM_000088.3(COL1A1): c.2668-1G> A single nucleotide variant Pathogenic rs1114167394 GRCh37 Chromosome 17, 48266900: 48266900
48 COL1A1 NM_000088.3(COL1A1): c.2667+3_2667+6del deletion Pathogenic rs1114167393 GRCh37 Chromosome 17, 48267034: 48267037
49 COL1A1 NM_000088.3(COL1A1): c.2550delT (p.Gly851Alafs) deletion Pathogenic rs1114167380 GRCh38 Chromosome 17, 50190010: 50190010
50 COL1A1 NM_000088.3(COL1A1): c.2549delC (p.Pro850Leufs) deletion Pathogenic rs1114167379 GRCh38 Chromosome 17, 50190011: 50190011

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
12.32 COL1A1 COL1A2
2
Show member pathways
12.29 COL1A1 COL1A2
3
Show member pathways
12.22 COL1A1 COL1A2
4
Show member pathways
12.2 COL1A1 COL1A2
5
Show member pathways
12.08 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 blood vessel development GO:0001568 9.32 COL1A1 COL1A2
9 cellular response to amino acid stimulus GO:0071230 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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