MCID: OST135
MIFTS: 47

Osteogenesis Imperfecta, Type I

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

Aliases & Classifications for Osteogenesis Imperfecta, Type I

MalaCards integrated aliases for Osteogenesis Imperfecta, Type I:

Name: Osteogenesis Imperfecta, Type I 54 13
Osteogenesis Imperfecta Type I 12 50 71 29
Osteogenesis Imperfecta Type 1 12 56 14
Osteogenesis Imperfecta with Blue Sclerae 50 71
Non-Deforming Osteogenesis Imperfecta 50 56
Osteogenesis Imperfecta Tarda 50 71
Mild Osteogenesis Imperfecta 50 56
Adair-Dighton Syndrome 50 56
Van Der Hoeve Syndrome 50 56
Oi, Type I 71 52
Oi Type 1 50 56
Oi1 12 71
Classic Non-Deforming Oi with Blue Sclerae 50
Osteopenic Non-Fracture Syndrome 71
Osteogenesis Imperfecta 1 71
Lobstein's Disease 69
Oi-I 71

Characteristics:

Orphanet epidemiological data:

56
osteogenesis imperfecta type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Sweden); Age of onset: Childhood;

OMIM:

54
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:

32
osteogenesis imperfecta, type i:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type I

NIH Rare Diseases : 50 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. last updated: 12/2/2015

MalaCards based summary : Osteogenesis Imperfecta, Type I, also known as osteogenesis imperfecta type i, is related to classic non-deforming osteogenesis imperfecta with blue sclerae and osteogenesis imperfecta, type viii, and has symptoms including wormian bones, femoral bowing and thin skin. An important gene associated with Osteogenesis Imperfecta, Type I is COL1A1 (Collagen Type I Alpha 1 Chain). The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and skin.

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 : 54
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 : 71 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 family:

Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Xvii Osteogenesis Imperfecta, Type Iv
Osteogenesis Imperfecta, Type Iii Osteogenesis Imperfecta, Type Ii
Osteogenesis Imperfecta, Type Xiii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type V Osteogenesis Imperfecta, Type Xvi
Osteogenesis Imperfecta, Type X Osteogenesis Imperfecta, Type Xv
Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Vi Osteogenesis Imperfecta, Type Xi
Osteogenesis Imperfecta, Type I Bmp1-Related Osteogenesis Imperfecta
Crtap-Related Osteogenesis Imperfecta Fkbp10-Related Osteogenesis Imperfecta
Ifitm5-Related Osteogenesis Imperfecta P3h1-Related Osteogenesis Imperfecta
Ppib-Related Osteogenesis Imperfecta Serpinf1-Related Osteogenesis Imperfecta
Serpinh1-Related Osteogenesis Imperfecta Sp7-Related Osteogenesis Imperfecta
Tmem38b-Related Osteogenesis Imperfecta Sparc-Related Osteogenesis Imperfecta
Wnt1-Related Osteogenesis Imperfecta

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

(show all 14)
id Related Disease Score Top Affiliating Genes
1 classic non-deforming osteogenesis imperfecta with blue sclerae 11.0
2 osteogenesis imperfecta, type viii 10.9
3 osteogenesis imperfecta, type iv 10.9
4 osteogenesis imperfecta, type xiii 10.9
5 osteogenesis imperfecta, type xiv 10.9
6 osteogenesis imperfecta, type v 10.9
7 osteogenesis imperfecta, type xv 10.9
8 osteogenesis imperfecta 10.7
9 otosclerosis 10.1
10 kidney disease 9.8
11 autosomal dominant polycystic kidney disease 9.8
12 polycystic kidney disease 9.8
13 thrombosis 9.8
14 vaginitis 9.8

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

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Skull:
wormian bones

Cardiovascular- Heart:
mitral valve prolapse

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

Skeletal- Spine:
biconcave flattened vertebrae

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

Skin Nails & Hair- Skin:
thin skin
easy bruisability

Head And Neck- Eyes:
blue sclerae

Skeletal:
varying degree of multiple fractures
mild osteopenia

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

Skeletal- Limbs:
occasional femoral bowing
mild joint hypermobility


Clinical features from OMIM:

166200

Human phenotypes related to Osteogenesis Imperfecta, Type I:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 wormian bones 32 HP:0002645
2 femoral bowing 32 HP:0002980
3 thin skin 32 HP:0000963
4 joint hypermobility 32 HP:0001382
5 osteopenia 32 HP:0000938
6 recurrent fractures 32 HP:0002757
7 mitral valve prolapse 32 HP:0001634
8 blue sclerae 32 HP:0000592
9 aortic dilatation 32 HP:0001724
10 dentinogenesis imperfecta 32 occasional (7.5%) HP:0000703
11 hearing impairment 32 HP:0000365
12 increased susceptibility to fractures 32 HP:0002659
13 otosclerosis 32 HP:0000362
14 biconcave flattened vertebrae 32 HP:0003321
15 bruising susceptibility 32 HP:0000978
16 growth abnormality 32 HP:0001507

Drugs & Therapeutics for Osteogenesis Imperfecta, Type I

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

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 3
2 Hormones Phase 3
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
4 Pharmaceutical Solutions Phase 2
5 Antibodies Phase 1
6 Antibodies, Monoclonal Phase 1
7 Immunoglobulins Phase 1
8
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3 Humatrope;Nutropin;GRH
2 A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804 Recruiting NCT03118570 Phase 2 BPS804;Placebo IV Infusion 5% Dextrose
3 An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Recruiting NCT03216486 Phase 2 BPS804
4 Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta Recruiting NCT03064074 Phase 1 Fresolimumab
5 Whole Body Vibration Training in Children With Osteogenesis Imperfecta and Limited Mobility Completed NCT03029312
6 BBD Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625
7 Urinary Biomarkers of OI Pathobiology Recruiting NCT02531087

Search NIH Clinical Center for Osteogenesis Imperfecta, Type I

Genetic Tests for Osteogenesis Imperfecta, Type I

Genetic tests related to Osteogenesis Imperfecta, Type I:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type I 29

Anatomical Context for Osteogenesis Imperfecta, Type I

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

39
Bone, Eye, Skin, Testes, Kidney

Publications for Osteogenesis Imperfecta, Type I

Articles related to Osteogenesis Imperfecta, Type I:

(show top 50) (show all 59)
id Title Authors Year
1
Static postural control in youth with osteogenesis imperfecta type I. ( 28433416 )
2017
2
Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI). ( 28058531 )
2017
3
Isolated olecranon fractures in children affected by osteogenesis imperfecta type I treated with single screw or tension band wiring system: Outcomes and pitfalls in relation to bone mineral density. ( 28514292 )
2017
4
Application of nexta89generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I. ( 28901398 )
2017
5
Ultrasound findings of a fetus with osteogenesis imperfecta type I. ( 27040421 )
2016
6
Ultrasonographic early diagnosis of osteogenesis imperfecta type I: implications for pre and post-natal therapy. ( 27052443 )
2016
7
Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate. ( 26957348 )
2016
8
Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease. ( 27059743 )
2016
9
Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family. ( 25696019 )
2015
10
Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions. ( 26478226 )
2015
11
Osteogenesis imperfecta type I: A case report. ( 24926339 )
2014
12
A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1. ( 24682174 )
2014
13
Validity of an accelerometer as a vertical ground reaction force measuring device in healthy children and adolescents and in children and adolescents with osteogenesis imperfecta type I. ( 24879019 )
2014
14
Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I. ( 23293527 )
2013
15
Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations. ( 24296239 )
2013
16
Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I. ( 24248189 )
2013
17
Teriparatide treatment in adult patients with osteogenesis imperfecta type I. ( 23907723 )
2013
18
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. ( 22795108 )
2012
19
Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception. ( 22795118 )
2012
20
Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with osteogenesis imperfecta type I assessed by high-resolution pQCT. ( 22407910 )
2012
21
Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists. ( 21739105 )
2012
22
An unusual presentation of osteogenesis imperfecta type I. ( 23754901 )
2011
23
Ebstein's anomaly in a child with osteogenesis imperfecta type I. ( 22461818 )
2011
24
25-gauge sutureless vitrectomy in osteogenesis imperfecta type I. ( 25389586 )
2009
25
[Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I]. ( 19199251 )
2009
26
A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family. ( 18755172 )
2008
27
[Molecular diagnosis of osteogenesis imperfecta type I]. ( 19145934 )
2008
28
Femoral artery thrombosis after internal fixation of a transverse acetabular fracture in a patient with osteogenesis imperfecta type I. ( 18271949 )
2008
29
Stimulation of collagen biosynthesis by flavonoid glycosides in skin fibroblasts of osteogenesis imperfecta type I and the potential mechanism of their action. ( 17982699 )
2007
30
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. ( 16786509 )
2006
31
Single-dose pharmacokinetics and tolerability of alendronate 35- and 70-milligram tablets in children and adolescents with osteogenesis imperfecta type I. ( 15827104 )
2005
32
Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. ( 15580207 )
2004
33
Effect of treatment with alendronate in osteogenesis imperfecta type I: a case report. ( 15647630 )
2004
34
Gene symbol: COL1A1. Disease: Osteogenesis imperfecta type I. ( 15046069 )
2004
35
Hypercalciuria in osteogenesis imperfecta type I. ( 14520592 )
2003
36
Effects of treatment with etidronate and alfacalcidol for osteogenesis imperfecta type I: a case report. ( 12665966 )
2003
37
Increased bone resorption with decreased activity and increased recruitment of osteoblasts in osteogenesis imperfecta type I. ( 11984701 )
2002
38
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. ( 11317364 )
2001
39
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. ( 11113887 )
2000
40
MRI-visible pericochlear lesions in osteogenesis imperfecta type I. ( 11044947 )
2000
41
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV. ( 10942108 )
2000
42
Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains. ( 10686420 )
2000
43
Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing. ( 10521849 )
1999
44
Bone density measurements by computed tomography in osteogenesis imperfecta type I. ( 10550462 )
1999
45
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. ( 9443882 )
1998
46
A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I. ( 9503369 )
1998
47
Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I. ( 9228859 )
1997
48
Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. ( 8808594 )
1996
49
Scanning electron microscopy of teeth in osteogenesis imperfecta type I. ( 8734703 )
1996
50
Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I. ( 8544188 )
1995

Variations for Osteogenesis Imperfecta, Type I

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

71 (show all 26)
id Symbol AA change Variation ID SNP ID
1 COL1A1 p.Gly221Cys VAR_001644
2 COL1A1 p.Gly224Cys VAR_001645
3 COL1A1 p.Gly263Arg VAR_001646
4 COL1A1 p.Gly263Val VAR_001647
5 COL1A1 p.Gly272Cys VAR_001648
6 COL1A1 p.Gly1079Ser VAR_001714
7 COL1A1 p.Gly1195Cys VAR_001731
8 COL1A1 p.Gly194Arg VAR_063292
9 COL1A1 p.Gly200Val VAR_063294
10 COL1A1 p.Gly266Glu VAR_063298
11 COL1A1 p.Gly287Ser VAR_063299
12 COL1A1 p.Gly320Val VAR_063302
13 COL1A1 p.Val349Phe VAR_063304
14 COL1A1 p.Pro555Arg VAR_063313
15 COL1A1 p.Gly647Ser VAR_063319
16 COL1A1 p.Gly722Ser VAR_063321
17 COL1A1 p.Gly1157Asp VAR_063338
18 COL1A1 p.Asp1219Glu VAR_063339
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

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type I:

6 (show top 50) (show all 91)
id Gene Variation Type Significance SNP ID Assembly Location
1 COL1A1 COL1A1, IVS26DS, G-A, +1 single nucleotide variant Pathogenic
2 COL1A2 COL1A2, EX11DEL deletion Pathogenic
3 COL1A1 NM_000088.3(COL1A1): c.814G> T (p.Gly272Cys) single nucleotide variant Pathogenic rs72645331 GRCh37 Chromosome 17, 48274022: 48274022
4 COL1A1 NM_000088.3(COL1A1): c.4358_4362delAATTC (p.Glu1453Glyfs) deletion Pathogenic rs72656352 GRCh37 Chromosome 17, 48262896: 48262900
5 COL1A1 NM_000088.3(COL1A1): c.1066G> T (p.Gly356Cys) single nucleotide variant Pathogenic rs72645365 GRCh37 Chromosome 17, 48273017: 48273017
6 COL1A1 NM_000088.3(COL1A1): c.3235G> A (p.Gly1079Ser) single nucleotide variant Pathogenic rs72654802 GRCh37 Chromosome 17, 48265483: 48265483
7 COL1A1 NM_000088.3(COL1A1): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72656314 GRCh37 Chromosome 17, 48264847: 48264847
8 COL1A1 COL1A1, IVS19DS, G-C, +1 single nucleotide variant Pathogenic
9 COL1A1 NM_000088.3(COL1A1): c.2161C> T (p.Gln721Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922145 GRCh37 Chromosome 17, 48268818: 48268818
10 COL1A1 NM_000088.3(COL1A1): c.579delT (p.Gly194Valfs) deletion Pathogenic/Likely pathogenic rs72667023 GRCh37 Chromosome 17, 48275531: 48275531
11 COL1A1 NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter) single nucleotide variant Pathogenic rs794726873 GRCh37 Chromosome 17, 48278784: 48278784
12 COL1A1 NM_000088.3(COL1A1): c.959G> A (p.Gly320Asp) single nucleotide variant Likely pathogenic rs72645353 GRCh37 Chromosome 17, 48273559: 48273559
13 COL1A1 NM_000088.3(COL1A1): c.1767+2T> G single nucleotide variant Pathogenic rs794727394 GRCh37 Chromosome 17, 48271302: 48271302
14 COL1A1 NM_000088.3(COL1A1): c.2866G> A (p.Gly956Arg) single nucleotide variant Likely pathogenic rs797045033 GRCh37 Chromosome 17, 48266600: 48266600
15 COL1A1 NM_000088.3(COL1A1): c.2775delT (p.Gly926Valfs) deletion Pathogenic rs878853274 GRCh37 Chromosome 17, 48266792: 48266792
16 COL1A2 NM_000089.3(COL1A2): c.577G> A (p.Gly193Ser) single nucleotide variant Pathogenic rs72656370 GRCh37 Chromosome 7, 94035598: 94035598
17 COL1A1 NM_000088.3(COL1A1): c.1678G> A (p.Gly560Ser) single nucleotide variant Pathogenic rs67507747 GRCh38 Chromosome 17, 50194032: 50194032
18 COL1A1 NM_000088.3(COL1A1): c.3935G> A (p.Trp1312Ter) single nucleotide variant Likely pathogenic rs886039880 GRCh37 Chromosome 17, 48263748: 48263748
19 COL1A1 NM_000088.3(COL1A1): c.1875+1G> C single nucleotide variant Pathogenic rs72651622 GRCh37 Chromosome 17, 48270157: 48270157
20 COL1A1 NM_000088.3(COL1A1): c.2434G> A (p.Gly812Ser) single nucleotide variant Likely pathogenic rs886042260 GRCh37 Chromosome 17, 48267705: 48267705
21 COL1A1 NM_000088.3(COL1A1): c.3567delT (p.Gly1190Valfs) deletion Pathogenic rs886042286 GRCh37 Chromosome 17, 48264248: 48264248
22 COL1A1 NM_000088.3(COL1A1): c.2930G> T (p.Gly977Val) single nucleotide variant Likely pathogenic rs886042308 GRCh37 Chromosome 17, 48266536: 48266536
23 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
24 COL1A1 NM_000088.3(COL1A1): c.896delG (p.Gly299Valfs) deletion Pathogenic rs886042473 GRCh37 Chromosome 17, 48273852: 48273852
25 COL1A1 NM_000088.3(COL1A1): c.643-2A> G single nucleotide variant Pathogenic rs886042602 GRCh37 Chromosome 17, 48275148: 48275148
26 COL1A1 NM_000088.3(COL1A1): c.2991delT (p.Gly998Valfs) deletion Pathogenic rs886042603 GRCh37 Chromosome 17, 48266318: 48266318
27 COL1A1 NM_000088.3(COL1A1): c.3939C> A (p.Tyr1313Ter) single nucleotide variant Pathogenic rs886042609 GRCh37 Chromosome 17, 48263744: 48263744
28 COL1A1 NM_000088.3(COL1A1): c.3162delT (p.Gly1055Alafs) deletion Pathogenic rs72654794 GRCh37 Chromosome 17, 48265936: 48265936
29 COL1A1 NM_000088.3(COL1A1): c.2089C> T (p.Arg697Ter) single nucleotide variant Pathogenic rs72651642 GRCh37 Chromosome 17, 48269187: 48269187
30 COL1A2 NM_000089.3(COL1A2): c.2656G> A (p.Gly886Ser) single nucleotide variant Likely pathogenic rs886043796 GRCh37 Chromosome 7, 94053738: 94053738
31 COL1A1 NM_000088.3(COL1A1): c.1354-12G> A single nucleotide variant Pathogenic rs72648337 GRCh37 Chromosome 17, 48272201: 48272201
32 COL1A2 NM_000089.3(COL1A2): c.326G> A (p.Gly109Asp) single nucleotide variant Pathogenic rs1114167416 GRCh38 Chromosome 7, 94404694: 94404694
33 COL1A2 NM_000089.3(COL1A2): c.793G> C (p.Gly265Arg) single nucleotide variant Pathogenic rs1114167417 GRCh37 Chromosome 7, 94038634: 94038634
34 COL1A2 NM_000089.3(COL1A2): c.856G> A (p.Gly286Ser) single nucleotide variant Pathogenic rs1114167418 GRCh37 Chromosome 7, 94038697: 94038697
35 COL1A2 NM_000089.3(COL1A2): c.1009G> A (p.Gly337Ser) single nucleotide variant Pathogenic rs67865220 GRCh37 Chromosome 7, 94039107: 94039107
36 COL1A2 NM_000089.3(COL1A2): c.1197+5G> A single nucleotide variant Pathogenic rs68132885 GRCh38 Chromosome 7, 94410532: 94410532
37 COL1A2 NM_000089.3(COL1A2): c.1801G> A (p.Gly601Ser) single nucleotide variant Pathogenic rs72658143 GRCh37 Chromosome 7, 94045753: 94045753
38 COL1A2 NM_000089.3(COL1A2): c.2835+1G> A single nucleotide variant Pathogenic rs72659310 GRCh38 Chromosome 7, 94425664: 94425664
39 COL1A2 NM_000089.3(COL1A2): c.3304G> T (p.Gly1102Cys) single nucleotide variant Pathogenic rs67768540 GRCh38 Chromosome 7, 94427663: 94427663
40 COL1A1 NM_000088.3(COL1A1): c.4386delC (p.Phe1463Serfs) deletion Pathogenic rs1114167406 GRCh37 Chromosome 17, 48262872: 48262872
41 COL1A1 NM_000088.3(COL1A1): c.4332dup (p.Asp1446Glyfs) duplication Pathogenic rs1114167405 GRCh37 Chromosome 17, 48262926: 48262926
42 COL1A1 NM_000088.3(COL1A1): c.3815G> T (p.Gly1272Val) single nucleotide variant Pathogenic rs1114167402 GRCh38 Chromosome 17, 50186507: 50186507
43 COL1A1 NM_000088.3(COL1A1): c.3790A> G (p.Met1264Val) single nucleotide variant Pathogenic rs72656340 GRCh38 Chromosome 17, 50186664: 50186664
44 COL1A1 NM_000088.3(COL1A1): c.3788delA (p.Lys1263Argfs) deletion Pathogenic rs1114167401 GRCh38 Chromosome 17, 50186666: 50186666
45 COL1A1 NM_000088.3(COL1A1): c.3748_3752dup (p.Ser1251Argfs) duplication Pathogenic rs1114167400 GRCh38 Chromosome 17, 50186702: 50186706
46 COL1A1 NM_000088.3(COL1A1): c.3607C> T (p.Gln1203Ter) single nucleotide variant Pathogenic rs1114167399 GRCh38 Chromosome 17, 50186847: 50186847
47 COL1A1 NM_000088.3(COL1A1): c.3505G> A (p.Gly1169Ser) single nucleotide variant Pathogenic rs67815019 GRCh37 Chromosome 17, 48264402: 48264402
48 COL1A1 NM_000088.3(COL1A1): c.3424-6C> G single nucleotide variant Pathogenic rs370865189 GRCh38 Chromosome 17, 50187128: 50187128
49 COL1A1 NM_000088.3(COL1A1): c.3233_3236delTCGG (p.Val1078Alafs) deletion Pathogenic rs1114167398 GRCh37 Chromosome 17, 48265482: 48265485
50 COL1A1 NM_000088.3(COL1A1): c.3045+1G> A single nucleotide variant Pathogenic rs1114167382 GRCh37 Chromosome 17, 48266263: 48266263

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

Sources for Osteogenesis Imperfecta, Type I

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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