OI1
MCID: OST135
MIFTS: 57

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 58 13 41
Osteogenesis Imperfecta Type I 12 54 76 30 6
Osteogenesis Imperfecta Type 1 12 60 30 15
Osteogenesis Imperfecta with Blue Sclerae 58 54 76
Osteogenesis Imperfecta Tarda 58 54 76
Oi, Type I 58 76 56
Oi1 58 12 76
Non-Deforming Osteogenesis Imperfecta 54 60
Mild Osteogenesis Imperfecta 54 60
Adair-Dighton Syndrome 54 60
Van Der Hoeve Syndrome 54 60
Oi Type 1 54 60
Classic Non-Deforming Oi with Blue Sclerae 54
Osteopenic Non-Fracture Syndrome 76
Osteogenesis Imperfecta, Mild 6
Osteogenesis Imperfecta 1 76
Lobstein's Disease 74
Oi-I 76

Characteristics:

Orphanet epidemiological data:

60
osteogenesis imperfecta type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Sweden); Age of onset: Childhood;

OMIM:

58
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:

33
osteogenesis imperfecta, type i:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type I

NIH Rare Diseases : 54 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 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 : 58 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 : 76 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 63)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type viii 32.4 COL1A1 COL1A2
2 osteogenesis imperfecta, type v 32.3 CD36 COL1A1 COL1A2
3 osteogenesis imperfecta, type iv 32.3 CD36 COL1A1 COL1A2
4 brittle bone disorder 31.2 BGLAP CD36 COL1A1 COL1A2 FGFR3 PEPD
5 otosclerosis 30.7 COL1A1 COL1A2 TNFRSF11B
6 osteogenesis imperfecta, type iii 30.4 BGLAP CD36 COL1A1 COL1A2
7 bone resorption disease 29.4 BGLAP COL1A1 IGF1 LRP5 TNFRSF11B
8 bone disease 28.8 BGLAP CD36 COL1A1 FGFR3 IGF1 LRP5
9 osteoporosis 28.4 BGLAP CD36 COL1A1 COL1A2 IGF1 IGFBP3
10 osteogenesis imperfecta, type xiii 11.2
11 osteogenesis imperfecta, type xiv 11.2
12 osteogenesis imperfecta, type xv 11.2
13 col1a1/2-related osteogenesis imperfecta 11.0
14 ehlers-danlos/osteogenesis imperfecta syndrome 10.4 COL1A1 COL1A2
15 high bone mass osteogenesis imperfecta 10.4 COL1A1 COL1A2
16 larsen-like syndrome 10.4 COL1A1 COL1A2
17 osteogenesis imperfecta, type vii 10.3 CD36 COL1A1 COL1A2
18 ehlers-danlos syndrome, classic type, 2 10.3 CD36 COL1A1
19 scleroderma, familial progressive 10.3 CD36 COL1A1 COL1A2
20 caffey disease 10.3 CD36 COL1A1 COL1A2
21 classic ehlers-danlos syndrome 10.3 COL1A1 COL1A2
22 bruck syndrome 10.3 CD36 COL1A1 COL1A2
23 spondyloepiphyseal dysplasia congenita 10.2 COL1A1 COL1A2 FGFR3
24 bone development disease 10.2 COL1A1 COL1A2 FGFR3
25 osteogenic sarcoma 10.2
26 dentinogenesis imperfecta 10.2
27 sarcoma 10.2
28 mitral valve insufficiency 10.2
29 gout 10.2
30 hyperuricemia 10.2
31 mitral valve disease 10.2
32 hyper ige syndrome 10.2
33 amelogenesis imperfecta, type iv 10.1 DLX3 DLX4
34 osteoporotic fracture 10.1 COL1A1 TNFRSF11B
35 saethre-chotzen syndrome 10.1 BGLAP COL1A2 FGFR3
36 pfeiffer syndrome 10.1 BGLAP COL1A1 FGFR3
37 osteogenesis imperfecta, type ii 10.1 CD36 COL1A1 COL1A2 FGFR3
38 slipped capital femoral epiphysis 10.1 IGF1 IGFBP3
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
40 thrombosis 10.1
41 kidney disease 10.1
42 autosomal dominant polycystic kidney disease 10.1
43 polycystic kidney disease 10.1
44 enchondroma 10.1
45 ehlers-danlos syndrome 10.0
46 secondary adrenal insufficiency 10.0 IGF1 IGFBP3
47 differentiated thyroid carcinoma 10.0 BGLAP CD36 TNFRSF11B
48 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.0 IGF1 IGFBP3
49 osteopathia striata with cranial sclerosis 9.9 LRP5 TNFRSF11B
50 diffuse idiopathic skeletal hyperostosis 9.9 IGF1 IGFBP3

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:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 dentinogenesis imperfecta 33 occasional (7.5%) HP:0000703
2 osteopenia 33 HP:0000938
3 hearing impairment 33 HP:0000365
4 thin skin 33 HP:0000963
5 wormian bones 33 HP:0002645
6 mitral valve prolapse 33 HP:0001634
7 joint hypermobility 33 HP:0001382
8 recurrent fractures 33 HP:0002757
9 bruising susceptibility 33 HP:0000978
10 blue sclerae 33 HP:0000592
11 otosclerosis 33 HP:0000362
12 femoral bowing 33 HP:0002980
13 increased susceptibility to fractures 33 HP:0002659
14 aortic aneurysm 33 HP:0004942
15 biconcave flattened vertebrae 33 HP:0003321
16 growth abnormality 33 HP:0001507

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type I:

47 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.34 CACNA1G CD36 COL1A1 COL1A2 CUL3 DLX3
2 cardiovascular system MP:0005385 10.33 CACNA1G CD36 COL1A1 COL1A2 CUL3 DLX3
3 behavior/neurological MP:0005386 10.26 CACNA1G CD36 COL1A1 COL1A2 FGFR3 IGFBP3
4 homeostasis/metabolism MP:0005376 10.25 CACNA1G CD36 COL1A1 COL1A2 CUL3 FGFR3
5 cellular MP:0005384 10.24 CD36 COL1A1 COL1A2 CUL3 FGFR3 IGF1
6 hematopoietic system MP:0005397 10.16 CD36 COL1A1 FGFR3 IGF1 LRP5 PDE6B
7 endocrine/exocrine gland MP:0005379 10.11 CD36 COL1A1 DLX3 IGF1 IGFBP3 LRP5
8 mortality/aging MP:0010768 10.06 CD36 COL1A1 COL1A2 CUL3 DLX3 FGFR3
9 adipose tissue MP:0005375 10.04 CD36 COL1A1 COL1A2 IGF1 IGFBP3 PHEX
10 integument MP:0010771 10.01 COL1A1 COL1A2 DLX3 FGFR3 IGF1 IGFBP3
11 craniofacial MP:0005382 10 COL1A1 FGFR3 LRP5 PDE6B PHEX TNFRSF11B
12 limbs/digits/tail MP:0005371 9.97 COL1A1 COL1A2 FGFR3 IGF1 IGFBP3 LRP5
13 hearing/vestibular/ear MP:0005377 9.95 COL1A1 FGFR3 IGF1 PDE6B PHEX TNFRSF11B
14 muscle MP:0005369 9.8 CD36 COL1A1 COL1A2 CUL3 IGF1 IGFBP3
15 pigmentation MP:0001186 9.55 COL1A1 IGFBP3 LRP5 PDE6B PEPD
16 renal/urinary system MP:0005367 9.43 CD36 COL1A1 FGFR3 IGF1 PEPD PHEX
17 skeleton MP:0005390 9.32 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 Active, not recruiting NCT03118570 Phase 2 BPS804
2 Whole Body Vibration Training in Children With Osteogenesis Imperfecta and Limited Mobility Completed NCT03029312 Not Applicable

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 30 COL1A1
2 Osteogenesis Imperfecta Type 1 30

Anatomical Context for Osteogenesis Imperfecta, Type I

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

42
Bone, Eye, Kidney, Skin, Testes, Thyroid, Pineal

Publications for Osteogenesis Imperfecta, Type I

Articles related to Osteogenesis Imperfecta, Type I:

(show top 50) (show all 75)
# Title Authors Year
1
COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I. ( 30829463 )
2019
2
Otoscopic Manifestations of Osteogenesis Imperfecta Type I. ( 31072201 )
2019
3
Sequential traumatic corneal open globe rupture in a patient with osteogenesis imperfecta type I. ( 30128364 )
2018
4
Implant therapy for a patient with osteogenesis imperfecta type I: review of literature with a case report. ( 30467787 )
2018
5
Reverse total shoulder arthroplasty in a patient with osteogenesis imperfecta type I complicated by a proximal humeral enchondroma: a case report and review of the literature. ( 30675552 )
2017
6
Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI). ( 28058531 )
2017
7
Static Postural Control in Youth With Osteogenesis Imperfecta Type I. ( 28433416 )
2017
8
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
9
Gait Deviations in Children With Osteogenesis Imperfecta Type I. ( 28777275 )
2017
10
Application of next‑generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I. ( 28901398 )
2017
11
Efficacy of teriparatide vs neridronate in adults with osteogenesis imperfecta type I: a prospective randomized international clinical study. ( 29263724 )
2017
12
Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease. ( 27059743 )
2016
13
Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions. ( 26478226 )
2016
14
Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice. ( 26781260 )
2016
15
Ultrasound findings of a fetus with osteogenesis imperfecta type I. ( 27040421 )
2016
16
Ultrasonographic early diagnosis of osteogenesis imperfecta type I: implications for pre and post-natal therapy. ( 27052443 )
2016
17
Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family. ( 25696019 )
2015
18
The functional muscle-bone unit in patients with osteogenesis imperfecta type I. ( 26004918 )
2015
19
Physical activity in youth with osteogenesis imperfecta type I. ( 26032209 )
2015
20
Muscle anatomy and dynamic muscle function in osteogenesis imperfecta type I. ( 24248189 )
2014
21
Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations. ( 24296239 )
2014
22
A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1. ( 24682174 )
2014
23
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
24
Osteogenesis imperfecta type I: A case report. ( 24926339 )
2014
25
Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I. ( 23293527 )
2013
26
Teriparatide treatment in adult patients with osteogenesis imperfecta type I. ( 23907723 )
2013
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
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
29
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. ( 22795108 )
2012
30
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
31
Ebstein's anomaly in a child with osteogenesis imperfecta type I. ( 22461818 )
2011
32
An unusual presentation of osteogenesis imperfecta type I. ( 23754901 )
2011
33
25-gauge sutureless vitrectomy in osteogenesis imperfecta type I. ( 25389586 )
2009
34
[Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I]. ( 19199251 )
2009
35
Femoral artery thrombosis after internal fixation of a transverse acetabular fracture in a patient with osteogenesis imperfecta type I. ( 18271949 )
2008
36
A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family. ( 18755172 )
2008
37
[Molecular diagnosis of osteogenesis imperfecta type I]. ( 19145934 )
2008
38
Stimulation of collagen biosynthesis by flavonoid glycosides in skin fibroblasts of osteogenesis imperfecta type I and the potential mechanism of their action. ( 17982699 )
2007
39
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. ( 16786509 )
2006
40
Single-dose pharmacokinetics and tolerability of alendronate 35- and 70-milligram tablets in children and adolescents with osteogenesis imperfecta type I. ( 15827104 )
2005
41
Gene symbol: COL1A1. Disease: Osteogenesis imperfecta type I. ( 15046069 )
2004
42
Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. ( 15580207 )
2004
43
Effect of treatment with alendronate in osteogenesis imperfecta type I: a case report. ( 15647630 )
2004
44
High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. ( 15024692 )
2004
45
Effects of treatment with etidronate and alfacalcidol for osteogenesis imperfecta type I: a case report. ( 12665966 )
2003
46
Hypercalciuria in osteogenesis imperfecta type I. ( 14520592 )
2003
47
Increased bone resorption with decreased activity and increased recruitment of osteoblasts in osteogenesis imperfecta type I. ( 11984701 )
2002
48
Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains. ( 10686420 )
2000
49
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV. ( 10942108 )
2000
50
MRI-visible pericochlear lesions in osteogenesis imperfecta type I. ( 11044947 )
2000

Variations for Osteogenesis Imperfecta, Type I

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

76 (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 962)
# 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 GRCh38 Chromosome 17, 50195231: 50195231
24 COL1A1 NM_000088.3(COL1A1): c.1299+1G> C single nucleotide variant Pathogenic 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 Uncertain significance rs139955975 GRCh37 Chromosome 17, 48273298: 48273298
28 COL1A1 NM_000088.3(COL1A1): c.1042G> A (p.Ala348Thr) single nucleotide variant Uncertain significance rs139955975 GRCh38 Chromosome 17, 50195937: 50195937
29 COL1A1 NM_000088.3(COL1A1): c.1299+5G> A single nucleotide variant Likely pathogenic rs193922139 GRCh37 Chromosome 17, 48272588: 48272588
30 COL1A1 NM_000088.3(COL1A1): c.1299+5G> A single nucleotide variant Likely pathogenic 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.2450delC (p.Pro817Leufs) deletion Pathogenic/Likely pathogenic rs193922149 GRCh37 Chromosome 17, 48267689: 48267689
34 COL1A1 NM_000088.3(COL1A1): c.2450delC (p.Pro817Leufs) deletion Pathogenic/Likely pathogenic rs193922149 GRCh38 Chromosome 17, 50190328: 50190328
35 COL1A1 NM_000088.3(COL1A1): c.2595C> T (p.Arg865=) single nucleotide variant Conflicting interpretations of pathogenicity rs117672175 GRCh37 Chromosome 17, 48267238: 48267238
36 COL1A1 NM_000088.3(COL1A1): c.2595C> T (p.Arg865=) single nucleotide variant Conflicting interpretations of pathogenicity rs117672175 GRCh38 Chromosome 17, 50189877: 50189877
37 COL1A1 NM_000088.3(COL1A1): c.2932C> T (p.Pro978Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs193922153 GRCh37 Chromosome 17, 48266534: 48266534
38 COL1A1 NM_000088.3(COL1A1): c.2932C> T (p.Pro978Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs193922153 GRCh38 Chromosome 17, 50189173: 50189173
39 COL1A1 NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter) single nucleotide variant Pathogenic rs72653173 GRCh37 Chromosome 17, 48266126: 48266126
40 COL1A1 NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter) single nucleotide variant Pathogenic rs72653173 GRCh38 Chromosome 17, 50188765: 50188765
41 COL1A1 NM_000088.3(COL1A1): c.3897C> T (p.Cys1299=) single nucleotide variant Benign/Likely benign rs34940368 GRCh37 Chromosome 17, 48263786: 48263786
42 COL1A1 NM_000088.3(COL1A1): c.3897C> T (p.Cys1299=) single nucleotide variant Benign/Likely benign rs34940368 GRCh38 Chromosome 17, 50186425: 50186425
43 COL1A1 NM_000088.3(COL1A1): c.579delT (p.Gly194Valfs) deletion Pathogenic/Likely pathogenic rs72667023 GRCh37 Chromosome 17, 48275531: 48275531
44 COL1A1 NM_000088.3(COL1A1): c.579delT (p.Gly194Valfs) deletion Pathogenic/Likely pathogenic rs72667023 GRCh38 Chromosome 17, 50198170: 50198170
45 COL1A1 NM_000088.3(COL1A1): c.612C> T (p.Pro204=) single nucleotide variant Benign/Likely benign rs138078016 GRCh37 Chromosome 17, 48275340: 48275340
46 COL1A1 NM_000088.3(COL1A1): c.612C> T (p.Pro204=) single nucleotide variant Benign/Likely benign rs138078016 GRCh38 Chromosome 17, 50197979: 50197979
47 COL1A1 NM_000088.3(COL1A1): c.904-9G> T single nucleotide variant Benign/Likely benign rs141726413 GRCh37 Chromosome 17, 48273737: 48273737
48 COL1A1 NM_000088.3(COL1A1): c.904-9G> T single nucleotide variant Benign/Likely benign rs141726413 GRCh38 Chromosome 17, 50196376: 50196376
49 COL1A2 NM_000089.3(COL1A2): c.1295G> A (p.Arg432Gln) single nucleotide variant Uncertain significance rs139446305 GRCh37 Chromosome 7, 94040411: 94040411
50 COL1A2 NM_000089.3(COL1A2): c.1295G> A (p.Arg432Gln) single nucleotide variant Uncertain significance rs139446305 GRCh38 Chromosome 7, 94411099: 94411099

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 13)
# Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 9.67 BGLAP COL1A1 IGFBP3
2 response to vitamin D GO:0033280 9.52 BGLAP PHEX
3 osteoblast development GO:0002076 9.51 BGLAP LRP5
4 bone development GO:0060348 9.5 BGLAP PHEX PLS3
5 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.48 IGF1 IGFBP3
6 protein heterotrimerization GO:0070208 9.46 COL1A1 COL1A2
7 response to inorganic substance GO:0010035 9.43 BGLAP TNFRSF11B
8 blood vessel development GO:0001568 9.43 COL1A1 COL1A2 DLX3
9 cellular response to vitamin D GO:0071305 9.4 BGLAP PHEX
10 skin morphogenesis GO:0043589 9.37 COL1A1 COL1A2
11 bone mineralization GO:0030282 9.33 BGLAP FGFR3 PHEX
12 positive regulation of MAPK cascade GO:0043410 9.26 CD36 FGFR3 IGF1 IGFBP3
13 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
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10 dbSNP
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