OI1
MCID: OST135
MIFTS: 56

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 57 13 40
Osteogenesis Imperfecta Type I 12 53 75 29 6
Osteogenesis Imperfecta Type 1 12 59 29 15
Osteogenesis Imperfecta with Blue Sclerae 57 53 75
Osteogenesis Imperfecta Tarda 57 53 75
Oi, Type I 57 75 55
Oi1 57 12 75
Non-Deforming Osteogenesis Imperfecta 53 59
Mild Osteogenesis Imperfecta 53 59
Adair-Dighton Syndrome 53 59
Van Der Hoeve Syndrome 53 59
Oi Type 1 53 59
Classic Non-Deforming Oi with Blue Sclerae 53
Osteopenic Non-Fracture Syndrome 75
Osteogenesis Imperfecta, Mild 6
Osteogenesis Imperfecta 1 75
Lobstein's Disease 73
Oi-I 75

Characteristics:

Orphanet epidemiological data:

59
osteogenesis imperfecta type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Sweden); Age of onset: Childhood;

OMIM:

57
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 : 53 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 osteogenesis imperfecta, type viii and osteogenesis imperfecta, type v. An important gene associated with Osteogenesis Imperfecta, Type I is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Senescence and Autophagy in Cancer and Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include bone, eye and skin, and related phenotypes are osteopenia and hearing impairment

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 : 57 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 : 75 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 Ii family:

Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta, Type Iv
Osteogenesis Imperfecta, Type Iii 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

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type viii 32.1 COL1A2 COL1A1
2 osteogenesis imperfecta, type v 32.1 COL1A2 COL1A1 CD36
3 osteogenesis imperfecta, type iv 32.0 COL1A2 COL1A1 CD36
4 brittle bone disorder 31.2 PEPD FGFR3 COL1A2 COL1A1 CD36 BGLAP
5 otosclerosis 30.6 TNFRSF11B COL1A2 COL1A1 CD36
6 bone resorption disease 29.9 TNFRSF11B IGF1 COL1A1 BGLAP
7 osteoporosis 29.1 TNFRSF11B PLS3 IGFBP3 IGF1 COL1A2 COL1A1
8 osteogenesis imperfecta, type xiii 11.2
9 osteogenesis imperfecta, type xiv 11.2
10 osteogenesis imperfecta, type xv 11.2
11 col1a1/2-related osteogenesis imperfecta 10.5
12 otosclerosis 1 10.4
13 ehlers-danlos/osteogenesis imperfecta syndrome 10.3 COL1A2 COL1A1
14 high bone mass osteogenesis imperfecta 10.3 COL1A2 COL1A1
15 larsen-like syndrome 10.2 COL1A2 COL1A1
16 ehlers-danlos syndrome, classic type, 2 10.2 COL1A1 CD36
17 classic ehlers-danlos syndrome 10.2 COL1A2 COL1A1
18 osteogenesis imperfecta, type vii 10.2 COL1A2 COL1A1 CD36
19 scleroderma, familial progressive 10.2 COL1A2 COL1A1 CD36
20 caffey disease 10.2 COL1A2 COL1A1 CD36
21 bruck syndrome 10.2 COL1A2 COL1A1 CD36
22 osteogenic sarcoma 10.1
23 dentinogenesis imperfecta 10.1
24 sarcoma 10.1
25 mitral valve insufficiency 10.1
26 mitral valve disease 10.1
27 hyper ige syndrome 10.1
28 osteoporotic fracture 10.1 TNFRSF11B COL1A1
29 spondyloepiphyseal dysplasia congenita 10.1 FGFR3 COL1A2 COL1A1
30 bone development disease 10.1 FGFR3 COL1A2 COL1A1
31 osteogenesis imperfecta, type iii 10.1 COL1A2 COL1A1 CD36 BGLAP
32 amelogenesis imperfecta, type iv 10.1 DLX4 DLX3
33 saethre-chotzen syndrome 10.1 FGFR3 COL1A2 BGLAP
34 pfeiffer syndrome 10.1 FGFR3 COL1A1 BGLAP
35 dental fluorosis 10.1 COL1A2 BGLAP
36 slipped capital femoral epiphysis 10.1 IGFBP3 IGF1
37 osteogenesis imperfecta, type ii 10.1 FGFR3 COL1A2 COL1A1 CD36
38 secondary adrenal insufficiency 10.0 IGFBP3 IGF1
39 osteochondrodysplasia 10.0 FGFR3 COL1A2 COL1A1 BGLAP
40 fasting hypoglycemia 10.0 IGF1 CD36
41 differentiated thyroid carcinoma 10.0 TNFRSF11B CD36 BGLAP
42 ehlers-danlos syndrome 10.0
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
44 thrombosis 10.0
45 polycystic kidney disease 10.0
46 kidney disease 10.0
47 autosomal dominant polycystic kidney disease 10.0
48 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.0 IGFBP3 IGF1
49 diffuse idiopathic skeletal hyperostosis 10.0 IGFBP3 IGF1
50 hyperostosis 10.0 TNFRSF11B IGF1 COL1A1

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:

57
Skin Nails Hair Skin:
thin skin
easy bruisability

Cardiovascular Heart:
mitral valve prolapse

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

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

Skeletal Spine:
biconcave flattened vertebrae

Skeletal Skull:
wormian bones

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 Limbs:
occasional femoral bowing
mild joint hypermobility


Clinical features from OMIM:

166200

Human phenotypes related to Osteogenesis Imperfecta, Type I:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 hearing impairment 32 HP:0000365
3 dentinogenesis imperfecta 32 occasional (7.5%) HP:0000703
4 thin skin 32 HP:0000963
5 wormian bones 32 HP:0002645
6 joint hypermobility 32 HP:0001382
7 mitral valve prolapse 32 HP:0001634
8 recurrent fractures 32 HP:0002757
9 bruising susceptibility 32 HP:0000978
10 blue sclerae 32 HP:0000592
11 otosclerosis 32 HP:0000362
12 femoral bowing 32 HP:0002980
13 increased susceptibility to fractures 32 HP:0002659
14 aortic aneurysm 32 HP:0004942
15 biconcave flattened vertebrae 32 HP:0003321
16 growth abnormality 32 HP:0001507

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 ADCY10 CACNA1G CD36 COL1A1 COL1A2 DLX3
2 growth/size/body region MP:0005378 10.06 CACNA1G CD36 COL1A1 COL1A2 DLX3 FGFR3
3 homeostasis/metabolism MP:0005376 10.03 ADCY10 CACNA1G CD36 COL1A1 COL1A2 FGFR3
4 adipose tissue MP:0005375 9.88 CD36 COL1A1 COL1A2 IGF1 IGFBP3 PHEX
5 limbs/digits/tail MP:0005371 9.7 COL1A1 COL1A2 FGFR3 IGF1 IGFBP3 PHEX
6 renal/urinary system MP:0005367 9.5 CD36 COL1A1 FGFR3 IGF1 IGFBP3 PEPD
7 skeleton MP:0005390 9.28 CD36 COL1A1 COL1A2 FGFR3 IGF1 IGFBP3

Drugs & Therapeutics for Osteogenesis Imperfecta, Type I

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804 Recruiting NCT03118570 Phase 2 BPS804

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:

41
Bone, Eye, Skin, Testes, Kidney, Thyroid, Pineal

Publications for Osteogenesis Imperfecta, Type I

Articles related to Osteogenesis Imperfecta, Type I:

(show top 50) (show all 64)
# Title Authors Year
1
Sequential traumatic corneal open globe rupture in a patient with osteogenesis imperfecta type I. ( 30128364 )
2018
2
Implant therapy for a patient with osteogenesis imperfecta type I: review of literature with a case report. ( 30467787 )
2018
3
Application of nexta89generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I. ( 28901398 )
2017
4
Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI). ( 28058531 )
2017
5
Static postural control in youth with osteogenesis imperfecta type I. ( 28433416 )
2017
6
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
7
Gait Deviations in Children With Osteogenesis Imperfecta Type I. ( 28777275 )
2017
8
Efficacy of teriparatide vs neridronate in adults with osteogenesis imperfecta type I: a prospective randomized international clinical study. ( 29263724 )
2017
9
Ultrasound findings of a fetus with osteogenesis imperfecta type I. ( 27040421 )
2016
10
Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease. ( 27059743 )
2016
11
Ultrasonographic early diagnosis of osteogenesis imperfecta type I: implications for pre and post-natal therapy. ( 27052443 )
2016
12
Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice. ( 26781260 )
2016
13
Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions. ( 26478226 )
2015
14
Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family. ( 25696019 )
2015
15
The functional muscle-bone unit in patients with osteogenesis imperfecta type I. ( 26004918 )
2015
16
Physical activity in youth with osteogenesis imperfecta type I. ( 26032209 )
2015
17
Osteogenesis imperfecta type I: A case report. ( 24926339 )
2014
18
A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1. ( 24682174 )
2014
19
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
20
Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I. ( 24248189 )
2013
21
Teriparatide treatment in adult patients with osteogenesis imperfecta type I. ( 23907723 )
2013
22
Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I. ( 23293527 )
2013
23
Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations. ( 24296239 )
2013
24
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
25
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. ( 22795108 )
2012
26
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
27
Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists. ( 21739105 )
2012
28
Ebstein's anomaly in a child with osteogenesis imperfecta type I. ( 22461818 )
2011
29
An unusual presentation of osteogenesis imperfecta type I. ( 23754901 )
2011
30
25-gauge sutureless vitrectomy in osteogenesis imperfecta type I. ( 25389586 )
2009
31
[Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I]. ( 19199251 )
2009
32
A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family. ( 18755172 )
2008
33
[Molecular diagnosis of osteogenesis imperfecta type I]. ( 19145934 )
2008
34
Femoral artery thrombosis after internal fixation of a transverse acetabular fracture in a patient with osteogenesis imperfecta type I. ( 18271949 )
2008
35
Stimulation of collagen biosynthesis by flavonoid glycosides in skin fibroblasts of osteogenesis imperfecta type I and the potential mechanism of their action. ( 17982699 )
2007
36
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. ( 16786509 )
2006
37
Single-dose pharmacokinetics and tolerability of alendronate 35- and 70-milligram tablets in children and adolescents with osteogenesis imperfecta type I. ( 15827104 )
2005
38
Gene symbol: COL1A1. Disease: Osteogenesis imperfecta type I. ( 15046069 )
2004
39
Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. ( 15580207 )
2004
40
Effect of treatment with alendronate in osteogenesis imperfecta type I: a case report. ( 15647630 )
2004
41
Effects of treatment with etidronate and alfacalcidol for osteogenesis imperfecta type I: a case report. ( 12665966 )
2003
42
Hypercalciuria in osteogenesis imperfecta type I. ( 14520592 )
2003
43
Increased bone resorption with decreased activity and increased recruitment of osteoblasts in osteogenesis imperfecta type I. ( 11984701 )
2002
44
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. ( 11113887 )
2000
45
MRI-visible pericochlear lesions in osteogenesis imperfecta type I. ( 11044947 )
2000
46
Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains. ( 10686420 )
2000
47
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV. ( 10942108 )
2000
48
Bone density measurements by computed tomography in osteogenesis imperfecta type I. ( 10550462 )
1999
49
Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing. ( 10521849 )
1999
50
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

Variations for Osteogenesis Imperfecta, Type I

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

75 (show all 26)
# 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 976)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A2 NM_000089.3(COL1A2): c.279+2T> C single nucleotide variant Pathogenic rs72656357 GRCh37 Chromosome 7, 94030934: 94030934
2 COL1A2 NM_000089.3(COL1A2): c.279+2T> C single nucleotide variant Pathogenic rs72656357 GRCh38 Chromosome 7, 94401622: 94401622
3 COL1A2 COL1A2, EX11DEL deletion Pathogenic
4 COL1A2 NM_000089.3(COL1A2): c.2123G> A (p.Arg708Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs72658163 GRCh37 Chromosome 7, 94049588: 94049588
5 COL1A2 NM_000089.3(COL1A2): c.2123G> A (p.Arg708Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs72658163 GRCh38 Chromosome 7, 94420276: 94420276
6 COL1A1 NM_000088.3(COL1A1): c.814G> T (p.Gly272Cys) single nucleotide variant Pathogenic rs72645331 GRCh37 Chromosome 17, 48274022: 48274022
7 COL1A1 NM_000088.3(COL1A1): c.814G> T (p.Gly272Cys) single nucleotide variant Pathogenic rs72645331 GRCh38 Chromosome 17, 50196661: 50196661
8 COL1A1 NM_000088.3(COL1A1): c.4358_4362delAATTC (p.Glu1453Glyfs) deletion Pathogenic rs72656352 GRCh37 Chromosome 17, 48262896: 48262900
9 COL1A1 NM_000088.3(COL1A1): c.4358_4362delAATTC (p.Glu1453Glyfs) deletion Pathogenic rs72656352 GRCh38 Chromosome 17, 50185535: 50185539
10 COL1A1 NM_000088.3(COL1A1): c.1066G> T (p.Gly356Cys) single nucleotide variant Pathogenic rs72645365 GRCh37 Chromosome 17, 48273017: 48273017
11 COL1A1 NM_000088.3(COL1A1): c.1066G> T (p.Gly356Cys) single nucleotide variant Pathogenic rs72645365 GRCh38 Chromosome 17, 50195656: 50195656
12 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh37 Chromosome 17, 48273524: 48273524
13 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh38 Chromosome 17, 50196163: 50196163
14 COL1A1 NM_000088.3(COL1A1): c.3235G> A (p.Gly1079Ser) single nucleotide variant Pathogenic rs72654802 GRCh37 Chromosome 17, 48265483: 48265483
15 COL1A1 NM_000088.3(COL1A1): c.3235G> A (p.Gly1079Ser) single nucleotide variant Pathogenic rs72654802 GRCh38 Chromosome 17, 50188122: 50188122
16 COL1A1 NM_000088.3(COL1A1): c.1588G> A (p.Gly530Ser) single nucleotide variant Pathogenic rs67682641 GRCh37 Chromosome 17, 48271736: 48271736
17 COL1A1 NM_000088.3(COL1A1): c.1588G> A (p.Gly530Ser) single nucleotide variant Pathogenic rs67682641 GRCh38 Chromosome 17, 50194375: 50194375
18 COL1A1 COL1A1, IVS26DS, G-A, +1 single nucleotide variant Pathogenic
19 COL1A1 NM_000088.3(COL1A1): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72656314 GRCh37 Chromosome 17, 48264847: 48264847
20 COL1A1 NM_000088.3(COL1A1): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72656314 GRCh38 Chromosome 17, 50187486: 50187486
21 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh37 Chromosome 17, 48273698: 48273698
22 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh38 Chromosome 17, 50196337: 50196337
23 COL1A1 NM_000088.3(COL1A1): c.1299+1G> C single nucleotide variant Pathogenic rs66490707 GRCh38 Chromosome 17, 50195231: 50195231
24 COL1A1 NM_000088.3(COL1A1): c.1299+1G> C single nucleotide variant Pathogenic rs66490707 GRCh37 Chromosome 17, 48272592: 48272592
25 COL1A1 NM_000088.3(COL1A1): c.3040C> T (p.Arg1014Cys) single nucleotide variant Pathogenic rs72653170 GRCh37 Chromosome 17, 48266269: 48266269
26 COL1A1 NM_000088.3(COL1A1): c.3040C> T (p.Arg1014Cys) single nucleotide variant Pathogenic rs72653170 GRCh38 Chromosome 17, 50188908: 50188908
27 COL1A1 NM_000088.3(COL1A1): c.1042G> A (p.Ala348Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139955975 GRCh37 Chromosome 17, 48273298: 48273298
28 COL1A1 NM_000088.3(COL1A1): c.1042G> A (p.Ala348Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139955975 GRCh38 Chromosome 17, 50195937: 50195937
29 COL1A1 NM_000088.3(COL1A1): c.1299+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs193922139 GRCh37 Chromosome 17, 48272588: 48272588
30 COL1A1 NM_000088.3(COL1A1): c.1299+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs193922139 GRCh38 Chromosome 17, 50195227: 50195227
31 COL1A1 NM_000088.3(COL1A1): c.1882G> A (p.Ala628Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs113950465 GRCh37 Chromosome 17, 48270048: 48270048
32 COL1A1 NM_000088.3(COL1A1): c.1882G> A (p.Ala628Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs113950465 GRCh38 Chromosome 17, 50192687: 50192687
33 COL1A1 NM_000088.3(COL1A1): c.2161C> T (p.Gln721Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922145 GRCh37 Chromosome 17, 48268818: 48268818
34 COL1A1 NM_000088.3(COL1A1): c.2161C> T (p.Gln721Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922145 GRCh38 Chromosome 17, 50191457: 50191457
35 COL1A1 NM_000088.3(COL1A1): c.2450delC (p.Pro817Leufs) deletion Pathogenic/Likely pathogenic rs193922149 GRCh37 Chromosome 17, 48267689: 48267689
36 COL1A1 NM_000088.3(COL1A1): c.2450delC (p.Pro817Leufs) deletion Pathogenic/Likely pathogenic rs193922149 GRCh38 Chromosome 17, 50190328: 50190328
37 COL1A1 NM_000088.3(COL1A1): c.2595C> T (p.Arg865=) single nucleotide variant Conflicting interpretations of pathogenicity rs117672175 GRCh37 Chromosome 17, 48267238: 48267238
38 COL1A1 NM_000088.3(COL1A1): c.2595C> T (p.Arg865=) single nucleotide variant Conflicting interpretations of pathogenicity rs117672175 GRCh38 Chromosome 17, 50189877: 50189877
39 COL1A1 NM_000088.3(COL1A1): c.2932C> T (p.Pro978Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs193922153 GRCh37 Chromosome 17, 48266534: 48266534
40 COL1A1 NM_000088.3(COL1A1): c.2932C> T (p.Pro978Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs193922153 GRCh38 Chromosome 17, 50189173: 50189173
41 COL1A1 NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter) single nucleotide variant Pathogenic rs72653173 GRCh37 Chromosome 17, 48266126: 48266126
42 COL1A1 NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter) single nucleotide variant Pathogenic rs72653173 GRCh38 Chromosome 17, 50188765: 50188765
43 COL1A1 NM_000088.3(COL1A1): c.3897C> T (p.Cys1299=) single nucleotide variant Benign/Likely benign rs34940368 GRCh37 Chromosome 17, 48263786: 48263786
44 COL1A1 NM_000088.3(COL1A1): c.3897C> T (p.Cys1299=) single nucleotide variant Benign/Likely benign rs34940368 GRCh38 Chromosome 17, 50186425: 50186425
45 COL1A1 NM_000088.3(COL1A1): c.579delT (p.Gly194Valfs) deletion Pathogenic/Likely pathogenic rs72667023 GRCh37 Chromosome 17, 48275531: 48275531
46 COL1A1 NM_000088.3(COL1A1): c.579delT (p.Gly194Valfs) deletion Pathogenic/Likely pathogenic rs72667023 GRCh38 Chromosome 17, 50198170: 50198170
47 COL1A1 NM_000088.3(COL1A1): c.612C> T (p.Pro204=) single nucleotide variant Benign/Likely benign rs138078016 GRCh37 Chromosome 17, 48275340: 48275340
48 COL1A1 NM_000088.3(COL1A1): c.612C> T (p.Pro204=) single nucleotide variant Benign/Likely benign rs138078016 GRCh38 Chromosome 17, 50197979: 50197979
49 COL1A1 NM_000088.3(COL1A1): c.904-9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs141726413 GRCh37 Chromosome 17, 48273737: 48273737
50 COL1A1 NM_000088.3(COL1A1): c.904-9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs141726413 GRCh38 Chromosome 17, 50196376: 50196376

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 9.56 BGLAP COL1A1 COL1A2 IGFBP3
2 insulin-like growth factor ternary complex GO:0042567 9.16 IGF1 IGFBP3
3 insulin-like growth factor binding protein complex GO:0016942 8.96 IGF1 IGFBP3
4 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 9.67 BGLAP COL1A1 IGFBP3
2 response to vitamin D GO:0033280 9.51 BGLAP PHEX
3 bone development GO:0060348 9.5 BGLAP PHEX PLS3
4 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.48 IGF1 IGFBP3
5 protein heterotrimerization GO:0070208 9.46 COL1A1 COL1A2
6 response to inorganic substance GO:0010035 9.43 BGLAP TNFRSF11B
7 blood vessel development GO:0001568 9.43 COL1A1 COL1A2 DLX3
8 cellular response to vitamin D GO:0071305 9.4 BGLAP PHEX
9 skin morphogenesis GO:0043589 9.37 COL1A1 COL1A2
10 bone mineralization GO:0030282 9.33 BGLAP FGFR3 PHEX
11 positive regulation of MAPK cascade GO:0043410 9.26 CD36 FGFR3 IGF1 IGFBP3
12 skeletal system development GO:0001501 9.17 BGLAP COL1A1 COL1A2 FGFR3 IGF1 PHEX

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 COL1A1 COL1A2

Sources for Osteogenesis Imperfecta, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....