OI1
MCID: OST135
MIFTS: 55

Osteogenesis Imperfecta, Type I (OI1)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Osteogenesis Imperfecta, Type I

MalaCards integrated aliases for Osteogenesis Imperfecta, Type I:

Name: Osteogenesis Imperfecta, Type I 56 13 39
Osteogenesis Imperfecta Type I 12 52 73 29 6
Osteogenesis Imperfecta Type 1 12 58 29 15
Osteogenesis Imperfecta with Blue Sclerae 56 52 73
Osteogenesis Imperfecta Tarda 56 52 73
Oi, Type I 56 73 54
Oi1 56 12 73
Non-Deforming Osteogenesis Imperfecta 52 58
Mild Osteogenesis Imperfecta 52 58
Adair-Dighton Syndrome 52 58
Van Der Hoeve Syndrome 52 58
Oi Type 1 52 58
Classic Non-Deforming Oi with Blue Sclerae 52
Osteopenic Non-Fracture Syndrome 73
Osteogenesis Imperfecta, Mild 6
Osteogenesis Imperfecta 1 73
Lobstein's Disease 71
Oi-I 73

Characteristics:

Orphanet epidemiological data:

58
osteogenesis imperfecta type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Sweden); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset of fracture usually when child begins to walk
fracture frequency constant through childhood, decreases after puberty
fractures often heal without deformity
fracture frequency increases after menopause and in men ages 60-80


HPO:

31
osteogenesis imperfecta, type i:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Osteogenesis Imperfecta, Type I

NIH Rare Diseases : 52 Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. Affected individuals are usually of normal or near normal height. Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene . These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily. OI type 1 exhibits an autosomal dominant pattern of inheritance.

MalaCards based summary : Osteogenesis Imperfecta, Type I, also known as osteogenesis imperfecta type i, is related to brittle bone disorder and col1a1/2 osteogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta, Type I is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Binding and Uptake of Ligands by Scavenger Receptors and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. The drugs Risedronate and Calcium have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and kidney, and related phenotypes are dentinogenesis imperfecta and osteopenia

Disease Ontology : 12 An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

OMIM : 56 Osteogenesis imperfecta type I is a dominantly inherited, generalized connective tissue disorder characterized mainly by bone fragility and blue sclerae. In most cases, 'functional null' alleles of COL1A1 on chromosome 17 or COL1A2 on chromosome 7 lead to reduced amounts of normal collagen I. (166200)

UniProtKB/Swiss-Prot : 73 Osteogenesis imperfecta 1: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta.

Related Diseases for Osteogenesis Imperfecta, Type I

Diseases in the Osteogenesis Imperfecta, Type Iii family:

Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta, Type Ii
Osteogenesis Imperfecta, Type Iv Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Xix Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type V
Osteogenesis Imperfecta, Type Xi Osteogenesis Imperfecta, Type X
Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Vi
Osteogenesis Imperfecta, Type Xiii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type Xv Osteogenesis Imperfecta, Type Xvi
Osteogenesis Imperfecta, Type Xvii Osteogenesis Imperfecta, Type Xviii
Osteogenesis Imperfecta, Type Xx

Diseases related to Osteogenesis Imperfecta, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 brittle bone disorder 32.8 PEPD CRTAP COL1A2 COL1A1 CD36 BGLAP
2 col1a1/2 osteogenesis imperfecta 31.3 COL1A2 COL1A1
3 osteogenesis imperfecta, type vi 31.3 COL1A2 COL1A1
4 osteogenesis imperfecta, type v 31.1 COL1A2 COL1A1 CD36
5 dentinogenesis imperfecta 31.1 CRTAP COL1A2 COL1A1
6 bone resorption disease 31.0 COL1A2 COL1A1 BGLAP
7 osteogenesis imperfecta, type vii 30.8 CRTAP COL1A2 COL1A1 CD36
8 osteogenesis imperfecta, type iv 30.8 KANSL3 CRTAP COL1A2 COL1A1 CD36
9 ehlers-danlos syndrome 30.7 COL1A2 COL1A1 CD36
10 otosclerosis 30.6 CRTAP COL1A2 COL1A1 CD36
11 osteogenesis imperfecta, type iii 30.6 KANSL3 CRTAP COL1A2 COL1A1 CD36 BGLAP
12 connective tissue disease 30.5 PEPD COL1A2 COL1A1 CD36 BGLAP
13 osteogenesis imperfecta, type ii 29.4 VIT PLEKHB1 KLHDC7A KANSL3 CRTAP CPZ
14 ehlers-danlos/osteogenesis imperfecta syndrome 10.5 COL1A2 COL1A1
15 arthrochalasia ehlers-danlos syndrome 10.5 COL1A2 COL1A1
16 high bone mass osteogenesis imperfecta 10.5 COL1A2 COL1A1
17 bone disease 10.5
18 larsen-like syndrome 10.5 COL1A2 COL1A1
19 type i ehlers-danlos syndrome 10.5 COL1A2 COL1A1
20 classic ehlers-danlos syndrome 10.4 COL1A2 COL1A1
21 scleroderma, familial progressive 10.4 COL1A2 COL1A1 CD36
22 gliofibroma 10.4 COL1A2 COL1A1
23 ehlers-danlos syndrome, classic type, 1 10.4 COL1A2 COL1A1
24 caffey disease 10.4 COL1A2 COL1A1 CD36
25 myositis ossificans 10.4 COL1A1 BGLAP
26 diffuse scleroderma 10.4 COL1A2 COL1A1
27 bone mineral density quantitative trait locus 3 10.4
28 pelvic organ prolapse 10.4 COL1A2 COL1A1 CD36
29 fibrogenesis imperfecta ossium 10.4 CRTAP COL1A2 COL1A1
30 cole-carpenter syndrome 10.3 CRTAP COL1A2 COL1A1
31 achondroplasia 10.3
32 branchiootic syndrome 1 10.3
33 osteogenic sarcoma 10.3
34 rickets 10.3
35 sarcoma 10.3
36 mitral valve insufficiency 10.3
37 spindle cell sarcoma 10.3
38 bone remodeling disease 10.3 COL1A2 COL1A1 BGLAP
39 phenylketonuria 10.3 COL1A2 COL1A1 BGLAP
40 osteogenesis imperfecta, type ix 10.3
41 osteogenesis imperfecta, type xix 10.3
42 osteogenesis imperfecta, type viii 10.3
43 osteogenesis imperfecta, type xi 10.3
44 osteogenesis imperfecta, type x 10.3
45 osteogenesis imperfecta, type xii 10.3
46 osteogenesis imperfecta, type xiii 10.3
47 osteogenesis imperfecta, type xiv 10.3
48 osteogenesis imperfecta, type xv 10.3
49 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
50 osteogenesis imperfecta, type xvi 10.3

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



Diseases related to Osteogenesis Imperfecta, Type I

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type I

Human phenotypes related to Osteogenesis Imperfecta, Type I:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 dentinogenesis imperfecta 31 occasional (7.5%) HP:0000703
2 osteopenia 31 HP:0000938
3 hearing impairment 31 HP:0000365
4 thin skin 31 HP:0000963
5 wormian bones 31 HP:0002645
6 mitral valve prolapse 31 HP:0001634
7 joint hypermobility 31 HP:0001382
8 recurrent fractures 31 HP:0002757
9 increased susceptibility to fractures 31 HP:0002659
10 otosclerosis 31 HP:0000362
11 bruising susceptibility 31 HP:0000978
12 blue sclerae 31 HP:0000592
13 femoral bowing 31 HP:0002980
14 aortic aneurysm 31 HP:0004942
15 growth abnormality 31 HP:0001507
16 biconcave flattened vertebrae 31 HP:0003321

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
thin skin
easy bruisability

Cardiovascular Heart:
mitral valve prolapse

Head And Neck Eyes:
blue sclerae

Growth Height:
normal to near normal stature
height often shorter than unaffected family members

Skeletal:
mild osteopenia
varying degree of multiple fractures

Skeletal Skull:
wormian bones

Head And Neck Ears:
otosclerosis
hearing loss, progressive conductive and/or sensorineural, during adulthood

Skeletal Spine:
biconcave flattened vertebrae

Head And Neck Teeth:
normal teeth (in most patients)
dentinogenesis imperfecta (rare)
opalescent teeth (rare)

Skeletal Limbs:
occasional femoral bowing
mild joint hypermobility

Clinical features from OMIM:

166200

Drugs & Therapeutics for Osteogenesis Imperfecta, Type I

Drugs for Osteogenesis Imperfecta, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
2
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
3 Diphosphonates Phase 4
4 Calcium, Dietary Phase 4
5 calcium channel blockers Phase 4
6 Hormones Phase 4
7 Antibodies, Monoclonal Phase 2
8 Immunologic Factors Phase 2
9 Antibodies Phase 2
10 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study Not yet recruiting NCT04152551 Phase 4 Risedronate Oral Tablet
2 Protocol Title: A Phase 2b, Multicentre, Multinational, Double-blind, Dose-finding Study, Incorporating an Open Label Substudy, in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With Setrusumab (BPS804). Active, not recruiting NCT03118570 Phase 2 BPS804
3 Whole Body Vibration as an Osteogenic Treatment for Children With Osteogenesis Imperfecta With Limited Mobility: A Randomised Controlled Pilot Trial Completed NCT03029312

Search NIH Clinical Center for Osteogenesis Imperfecta, Type I

Genetic Tests for Osteogenesis Imperfecta, Type I

Genetic tests related to Osteogenesis Imperfecta, Type I:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type I 29 COL1A1
2 Osteogenesis Imperfecta Type 1 29

Anatomical Context for Osteogenesis Imperfecta, Type I

MalaCards organs/tissues related to Osteogenesis Imperfecta, Type I:

40
Bone, Eye, Kidney, Skin, Testes, Breast

Publications for Osteogenesis Imperfecta, Type I

Articles related to Osteogenesis Imperfecta, Type I:

(show top 50) (show all 225)
# Title Authors PMID Year
1
Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. 54 61 56 6
2295701 1990
2
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 54 56 6
15241796 2004
3
Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta. 54 56 6
8408653 1993
4
Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype. 56 6
2794057 1989
5
Detection of mutations in human type I collagen mRNA in osteogenesis imperfecta by indirect RNase protection. 56 6
2542316 1989
6
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 54 61 6
11113887 2000
7
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV. 54 61 56
10942108 2000
8
Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I. 54 61 56
8544188 1995
9
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 54 61 6
7942841 1994
10
Molecular heterogeneity in osteogenesis imperfecta type I. 54 61 56
8456806 1993
11
Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. 54 61 56
1353940 1992
12
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. 61 6
18311573 2008
13
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 54 6
15024745 2004
14
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent. 54 6
9067755 1997
15
Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta. 61 56
7916744 1993
16
Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I. 61 56
1952595 1991
17
Transgenic mouse model of the mild dominant form of osteogenesis imperfecta. 61 56
2402497 1990
18
Segregation analysis of dominant osteogenesis imperfecta in Italy. 54 56
1972760 1990
19
Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. 54 56
1967900 1990
20
Osteogenesis imperfecta type I with unusual dental abnormalities. 61 56
3239581 1988
21
Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I. 61 56
3023615 1986
22
Heterogeneity of osteogenesis imperfecta type I. 61 56
6876111 1983
23
Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. 56
26426884 2016
24
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 6
19358256 2009
25
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 6
18996919 2009
26
Skeletal dysplasia in ancient Egypt. 56
19006207 2008
27
Synthetic collagen heterotrimers: structural mimics of wild-type and mutant collagen type I. 56
18481852 2008
28
Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfecta. 56
18073209 2008
29
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 6
17078022 2007
30
Nosology and classification of genetic skeletal disorders: 2006 revision. 56
17120245 2007
31
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 6
16879195 2006
32
Genetic evaluation of suspected osteogenesis imperfecta (OI). 56
16778601 2006
33
Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. 56
16434452 2006
34
Pamidronate in children with osteogenesis imperfecta: histomorphometric effects of long-term therapy. 56
16291701 2006
35
Craniofacial features in osteogenesis imperfecta: a cephalometric study. 56
15666304 2005
36
COL1A1/2 Osteogenesis Imperfecta 6
20301472 2005
37
Targeting gene therapy for osteogenesis imperfecta. 56
15163783 2004
38
High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. 6
15024692 2004
39
Gene targeting in stem cells from individuals with osteogenesis imperfecta. 56
14976317 2004
40
One strategy for cell and gene therapy: harnessing the power of adult stem cells to repair tissues. 56
13679583 2003
41
Vestibular dysfunction in adult patients with osteogenesis imperfecta. 56
12838554 2003
42
Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV. 56
12728084 2003
43
Ocular hypertension in mice with a targeted type I collagen mutation. 56
12657595 2003
44
Osteogenesis imperfecta types I, III, and IV: effect of pamidronate therapy on bone and mineral metabolism. 56
12629073 2003
45
Modeling the benefits of pamidronate in children with osteogenesis imperfecta. 56
12417561 2002
46
The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta. 56
12417568 2002
47
The mechanical properties of skin in osteogenesis imperfecta. 56
12071818 2002
48
Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: Implications for cell therapy of bone. 56
12084934 2002
49
Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta. 56
11970931 2002
50
Cyclic pamidronate infusion improves bone mineralisation and reduces fracture incidence in osteogenesis imperfecta. 56
11760017 2001

Variations for Osteogenesis Imperfecta, Type I

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type I:

6 (show top 50) (show all 502) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL1A1 COL1A1, IVS26DS, G-A, +1SNV Pathogenic 17328
2 COL1A2 NM_000089.3(COL1A2):c.279+2T>CSNV Pathogenic 17233 rs72656357 7:94030934-94030934 7:94401622-94401622
3 COL1A2 COL1A2, EX11DELdeletion Pathogenic 17237
4 COL1A1 NM_000088.3(COL1A1):c.814G>T (p.Gly272Cys)SNV Pathogenic 17285 rs72645331 17:48274022-48274022 17:50196661-50196661
5 COL1A1 NM_000088.3(COL1A1):c.4358_4362deldeletion Pathogenic 17307 rs72656352 17:48262896-48262900 17:50185535-50185539
6 COL1A1 NM_000088.3(COL1A1):c.1066G>T (p.Gly356Cys)SNV Pathogenic 17309 rs72645365 17:48273017-48273017 17:50195656-50195656
7 COL1A1 NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg)SNV Pathogenic 17312 rs72645357 17:48273524-48273524 17:50196163-50196163
8 COL1A1 NM_000088.3(COL1A1):c.3235G>A (p.Gly1079Ser)SNV Pathogenic 17322 rs72654802 17:48265483-48265483 17:50188122-50188122
9 COL1A1 NM_000088.3(COL1A1):c.1588G>A (p.Gly530Ser)SNV Pathogenic 17324 rs67682641 17:48271736-48271736 17:50194375-50194375
10 COL1A1 NM_000088.3(COL1A1):c.3421C>T (p.Arg1141Ter)SNV Pathogenic 17337 rs72656314 17:48264847-48264847 17:50187486-50187486
11 COL1A1 NM_000088.3(COL1A1):c.1299+1G>CSNV Pathogenic 17346 rs66490707 17:48272592-48272592 17:50195231-50195231
12 COL1A1 NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys)SNV Pathogenic 17347 rs72653170 17:48266269-48266269 17:50188908-50188908
13 COL1A1 NM_000088.3(COL1A1):c.3076C>T (p.Arg1026Ter)SNV Pathogenic 35920 rs72653173 17:48266126-48266126 17:50188765-50188765
14 COL1A2 NM_000089.3(COL1A2):c.838G>A (p.Gly280Ser)SNV Pathogenic 35957 rs72656387 7:94038679-94038679 7:94409367-94409367
15 COL1A1 NM_000088.3(COL1A1):c.2775del (p.Gly926fs)deletion Pathogenic 236248 rs878853274 17:48266792-48266792 17:50189431-50189431
16 COL1A2 NM_000089.3(COL1A2):c.577G>A (p.Gly193Ser)SNV Pathogenic 265387 rs72656370 7:94035598-94035598 7:94406286-94406286
17 COL1A1 NM_000088.3(COL1A1):c.1678G>A (p.Gly560Ser)SNV Pathogenic 265433 rs67507747 17:48271393-48271393 17:50194032-50194032
18 COL1A1 NM_000088.3(COL1A1):c.1405C>T (p.Arg469Ter)SNV Pathogenic 265434 rs762428889 17:48272138-48272138 17:50194777-50194777
19 COL1A1 NM_000088.3(COL1A1):c.757C>T (p.Arg253Ter)SNV Pathogenic 265435 rs72645318 17:48274418-48274418 17:50197057-50197057
20 COL1A1 NM_000088.3(COL1A1):c.3567del (p.Gly1190fs)deletion Pathogenic 282016 rs886042286 17:48264248-48264248 17:50186887-50186887
21 COL1A1 NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter)SNV Pathogenic 287320 rs72651642 17:48269187-48269187 17:50191826-50191826
22 COL1A1 NM_000088.3(COL1A1):c.1354-12G>ASNV Pathogenic 372754 rs72648337 17:48272201-48272201 17:50194840-50194840
23 COL1A2 NM_000089.3(COL1A2):c.2314G>A (p.Gly772Ser)SNV Pathogenic 420022 rs72658185 7:94050339-94050339 7:94421027-94421027
24 COL1A2 NM_000089.3(COL1A2):c.326G>A (p.Gly109Asp)SNV Pathogenic 425658 rs1114167416 7:94034006-94034006 7:94404694-94404694
25 COL1A2 NM_000089.3(COL1A2):c.793G>C (p.Gly265Arg)SNV Pathogenic 425660 rs1114167417 7:94038634-94038634 7:94409322-94409322
26 COL1A2 NM_000089.3(COL1A2):c.856G>A (p.Gly286Ser)SNV Pathogenic 425662 rs1114167418 7:94038697-94038697 7:94409385-94409385
27 COL1A2 NM_000089.3(COL1A2):c.874G>A (p.Gly292Ser)SNV Pathogenic 425663 rs906553840 7:94038715-94038715 7:94409403-94409403
28 COL1A2 NM_000089.3(COL1A2):c.1009G>A (p.Gly337Ser)SNV Pathogenic 425643 rs67865220 7:94039107-94039107 7:94409795-94409795
29 COL1A2 NM_000089.3(COL1A2):c.1197+5G>ASNV Pathogenic 425646 rs68132885 7:94039844-94039844 7:94410532-94410532
30 COL1A2 NM_000089.3(COL1A2):c.1801G>A (p.Gly601Ser)SNV Pathogenic 425649 rs72658143 7:94045753-94045753 7:94416441-94416441
31 COL1A2 NM_000089.3(COL1A2):c.2835+1G>ASNV Pathogenic 425653 rs72659310 7:94054976-94054976 7:94425664-94425664
32 COL1A2 NM_000089.3(COL1A2):c.3304G>T (p.Gly1102Cys)SNV Pathogenic 425659 rs67768540 7:94056975-94056975 7:94427663-94427663
33 COL1A1 NM_000088.3(COL1A1):c.4386del (p.Phe1463fs)deletion Pathogenic 425632 rs1114167406 17:48262872-48262872 17:50185511-50185511
34 COL1A1 NM_000088.3(COL1A1):c.4332dup (p.Asp1446fs)duplication Pathogenic 425631 rs1114167405 17:48262925-48262926 17:50185564-50185565
35 COL1A1 NM_000088.3(COL1A1):c.3815G>T (p.Gly1272Val)SNV Pathogenic 425626 rs1114167402 17:48263868-48263868 17:50186507-50186507
36 COL1A1 NM_000088.3(COL1A1):c.3790A>G (p.Met1264Val)SNV Pathogenic 425625 rs72656340 17:48264025-48264025 17:50186664-50186664
37 COL1A1 NM_000088.3(COL1A1):c.3788del (p.Lys1263fs)deletion Pathogenic 425624 rs1114167401 17:48264027-48264027 17:50186666-50186666
38 COL1A1 NM_000088.3(COL1A1):c.3748_3752dup (p.Ser1251fs)duplication Pathogenic 425623 rs1114167400 17:48264062-48264063 17:50186701-50186702
39 COL1A1 NM_000088.3(COL1A1):c.3607C>T (p.Gln1203Ter)SNV Pathogenic 425621 rs1114167399 17:48264208-48264208 17:50186847-50186847
40 COL1A1 NM_000088.3(COL1A1):c.3505G>A (p.Gly1169Ser)SNV Pathogenic 425589 rs67815019 17:48264402-48264402 17:50187041-50187041
41 COL1A1 NM_000088.3(COL1A1):c.3424-6C>GSNV Pathogenic 425620 rs370865189 17:48264489-48264489 17:50187128-50187128
42 COL1A1 NM_000088.3(COL1A1):c.3233_3236del (p.Val1078fs)deletion Pathogenic 425619 rs1114167398 17:48265482-48265485 17:50188121-50188124
43 COL1A1 NM_000088.3(COL1A1):c.3045+1G>ASNV Pathogenic 425587 rs1114167382 17:48266263-48266263 17:50188902-50188902
44 COL1A1 NM_000088.3(COL1A1):c.3026del (p.Pro1009fs)deletion Pathogenic 425616 rs1114167396 17:48266283-48266283 17:50188922-50188922
45 COL1A1 NM_000088.3(COL1A1):c.2934del (p.Ser979fs)deletion Pathogenic 425615 rs1114167395 17:48266532-48266532 17:50189171-50189171
46 COL1A1 NM_000088.3(COL1A1):c.2881del (p.Val961fs)deletion Pathogenic 425586 rs1114167381 17:48266585-48266585 17:50189224-50189224
47 COL1A1 NM_000088.3(COL1A1):c.2668-1G>ASNV Pathogenic 425614 rs1114167394 17:48266900-48266900 17:50189539-50189539
48 COL1A1 NM_000088.3(COL1A1):c.2667+3_2667+6deldeletion Pathogenic 425613 rs1114167393 17:48267034-48267037 17:50189673-50189676
49 COL1A1 NM_000088.3(COL1A1):c.2550del (p.Gly851fs)deletion Pathogenic 425585 rs1114167380 17:48267371-48267371 17:50190010-50190010
50 COL1A1 NM_000088.3(COL1A1):c.2549del (p.Pro850fs)deletion Pathogenic 425584 rs1114167379 17:48267372-48267372 17:50190011-50190011

UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type I:

73 (show all 26)
# Symbol AA change Variation ID SNP ID
1 COL1A1 p.Gly221Cys VAR_001644 rs72667037
2 COL1A1 p.Gly224Cys VAR_001645 rs72667038
3 COL1A1 p.Gly263Arg VAR_001646 rs72645323
4 COL1A1 p.Gly263Val VAR_001647 rs72645324
5 COL1A1 p.Gly272Cys VAR_001648 rs72645331
6 COL1A1 p.Gly1079Ser VAR_001714 rs72654802
7 COL1A1 p.Gly1195Cys VAR_001731 rs72656334
8 COL1A1 p.Gly194Arg VAR_063292 rs72667024
9 COL1A1 p.Gly200Val VAR_063294 rs72667029
10 COL1A1 p.Gly266Glu VAR_063298 rs72645325
11 COL1A1 p.Gly287Ser VAR_063299 rs72645340
12 COL1A1 p.Gly320Val VAR_063302 rs72645353
13 COL1A1 p.Val349Phe VAR_063304 rs72645362
14 COL1A1 p.Pro555Arg VAR_063313 rs72648359
15 COL1A1 p.Gly647Ser VAR_063319 rs72651627
16 COL1A1 p.Gly722Ser VAR_063321 rs72651647
17 COL1A1 p.Gly1157Asp VAR_063338 rs72656323
18 COL1A1 p.Asp1219Glu VAR_063339 rs72656339
19 COL1A2 p.Gly211Asp VAR_001852 rs72656378
20 COL1A2 p.Gly328Ser VAR_001855 rs66612022
21 COL1A2 p.Gly736Cys VAR_001879 rs72658173
22 COL1A2 p.Gly835Ser VAR_001890 rs72658193
23 COL1A2 p.Gly247Arg VAR_063346
24 COL1A2 p.Gly319Arg VAR_063350 rs72656393
25 COL1A2 p.Gly733Cys VAR_063363 rs72658172
26 COL1A2 p.Cys1195Tyr VAR_063383 rs72659342

Expression for Osteogenesis Imperfecta, Type I

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

Pathways for Osteogenesis Imperfecta, Type I

GO Terms for Osteogenesis Imperfecta, Type I

Cellular components related to Osteogenesis Imperfecta, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.46 CRTAP COL1A2 COL1A1 BGLAP
2 collagen trimer GO:0005581 9.13 COL1A2 COL1A1 CD36
3 collagen type I trimer GO:0005584 8.62 COL1A2 COL1A1

Biological processes related to Osteogenesis Imperfecta, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.13 COL1A2 COL1A1 BGLAP
2 skin morphogenesis GO:0043589 8.62 COL1A2 COL1A1

Molecular functions related to Osteogenesis Imperfecta, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor binding GO:0048407 8.62 COL1A2 COL1A1

Sources for Osteogenesis Imperfecta, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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