MCID: OST135
MIFTS: 56

Osteogenesis Imperfecta, Type I

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

Aliases & Classifications for Osteogenesis Imperfecta, Type I

MalaCards integrated aliases for Osteogenesis Imperfecta, Type I:

Name: Osteogenesis Imperfecta, Type I 53 13
Osteogenesis Imperfecta Type 1 12 55 28 14
Osteogenesis Imperfecta Type I 12 49 71 28
Osteogenesis Imperfecta with Blue Sclerae 53 49 71
Osteogenesis Imperfecta Tarda 53 49 71
Oi, Type I 53 71 51
Oi1 53 12 71
Non-Deforming Osteogenesis Imperfecta 49 55
Mild Osteogenesis Imperfecta 49 55
Adair-Dighton Syndrome 49 55
Van Der Hoeve Syndrome 49 55
Oi Type 1 49 55
Classic Non-Deforming Oi with Blue Sclerae 49
Osteopenic Non-Fracture Syndrome 71
Osteogenesis Imperfecta 1 71
Lobstein's Disease 69
Oi-I 71

Characteristics:

Orphanet epidemiological data:

55
osteogenesis imperfecta type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Sweden); Age of onset: Childhood;

OMIM:

53
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:



Summaries for Osteogenesis Imperfecta, Type I

NIH Rare Diseases : 49 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 1, is related to osteogenesis imperfecta, type viii and osteogenesis imperfecta, type v, and has symptoms including osteopenia, hearing impairment and dentinogenesis 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 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 cardiovascular system and growth/size/body region

OMIM : 53 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.

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.

Related Diseases for Osteogenesis Imperfecta, Type I

Diseases in the Osteogenesis Imperfecta, Type I family:

Osteogenesis Imperfecta, Type Ii Osteogenesis Imperfecta, Type Iv
Osteogenesis Imperfecta, Type Iii Osteogenesis Imperfecta, Type Ix
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

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type viii 32.2 COL1A1 COL1A2
2 osteogenesis imperfecta, type v 32.1 CD36 COL1A1 COL1A2
3 osteogenesis imperfecta, type iv 32.1 CD36 COL1A1 COL1A2
4 brittle bone disorder 30.8 BGLAP CD36 COL1A1 COL1A2 FGFR3 PEPD
5 otosclerosis 30.2 CD36 COL1A1 COL1A2 TNFRSF11B
6 osteogenesis imperfecta, type xiii 11.0
7 osteogenesis imperfecta, type xiv 11.0
8 osteogenesis imperfecta, type xv 11.0
9 ehlers-danlos/osteogenesis imperfecta syndrome 10.6 COL1A1 COL1A2
10 ehlers-danlos syndrome, arthrochalasia type, 1 10.5 COL1A1 COL1A2
11 high bone mass osteogenesis imperfecta 10.5 COL1A1 COL1A2
12 larsen-like syndrome 10.5 COL1A1 COL1A2
13 osteogenesis imperfecta, type vii 10.4 CD36 COL1A1 COL1A2
14 scleroderma, familial progressive 10.4 CD36 COL1A1 COL1A2
15 ehlers-danlos syndrome, classic type, 1 10.4 CD36 COL1A1 COL1A2
16 caffey disease 10.4 CD36 COL1A1 COL1A2
17 bruck syndrome 10.4 CD36 COL1A1 COL1A2
18 osteogenesis imperfecta, type vi 10.3 COL1A1 COL1A2
19 spondyloepiphyseal dysplasia congenita 10.2 COL1A1 COL1A2 FGFR3
20 bone development disease 10.2 COL1A1 COL1A2 FGFR3
21 amelogenesis imperfecta, type iv 10.2 DLX3 DLX4
22 osteoporotic fracture 10.2 COL1A1 TNFRSF11B
23 saethre-chotzen syndrome 10.2 BGLAP COL1A2 FGFR3
24 dental fluorosis 10.2 BGLAP COL1A2
25 osteogenesis imperfecta, type ii 10.1 CD36 COL1A1 COL1A2 FGFR3
26 slipped capital femoral epiphysis 10.1 IGF1 IGFBP3
27 scoliosis 10.1 COL1A1 COL1A2 FGFR3
28 cohen-gibson syndrome 10.1 BGLAP CD36 TNFRSF11B
29 secondary adrenal insufficiency 10.1 IGF1 IGFBP3
30 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.0 IGF1 IGFBP3
31 pituitary adenoma 1, multiple types 10.0 IGF1 IGFBP3
32 differentiated thyroid carcinoma 10.0 BGLAP CD36 TNFRSF11B
33 diffuse idiopathic skeletal hyperostosis 10.0 IGF1 IGFBP3
34 turner syndrome 9.9 BGLAP IGF1 IGFBP3
35 hypercalciuria, absorptive, 2 9.9
36 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.9
37 aging 9.9
38 body mass index quantitative trait locus 1 9.9
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
40 thrombosis 9.9
41 vaginitis 9.9
42 kidney disease 9.9
43 autosomal dominant polycystic kidney disease 9.9
44 polycystic kidney disease 9.9
45 hyperostosis 9.9 COL1A1 IGF1 TNFRSF11B
46 glucocorticoid-induced osteoporosis 9.9 BGLAP IGF1 TNFRSF11B
47 mammographic density 9.9 IGF1 IGFBP3
48 insulin-like growth factor i 9.9 BGLAP IGF1 IGFBP3
49 osteoporosis, juvenile 9.8 BGLAP COL1A1 IGF1 IGFBP3
50 hyperparathyroidism 9.8 BGLAP PHEX TNFRSF11B

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:

53
SkinNailsHairSkin:
thin skin
easy bruisability

CardiovascularHeart:
mitral valve prolapse

HeadAndNeckEars:
otosclerosis
hearing loss, progressive conductive and/or sensorineural, during adulthood

HeadAndNeckTeeth:
normal teeth (in most patients)
dentinogenesis imperfecta (rare)
opalescent teeth (rare)

SkeletalSpine:
biconcave flattened vertebrae

SkeletalSkull:
wormian bones

HeadAndNeckEyes:
blue sclerae

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

Skeletal:
mild osteopenia
varying degree of multiple fractures

SkeletalLimbs:
occasional femoral bowing
mild joint hypermobility


Clinical features from OMIM:

166200

Human phenotypes related to Osteogenesis Imperfecta, Type I:

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

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type I:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 ADCY10 CACNA1G CD2AP CD36 COL1A1 COL1A2
2 growth/size/body region MP:0005378 10.1 CACNA1G CD2AP CD36 COL1A1 COL1A2 DLX3
3 homeostasis/metabolism MP:0005376 10.07 MGAM PEPD PHEX PLS3 ADCY10 CACNA1G
4 adipose tissue MP:0005375 9.88 CD36 COL1A1 COL1A2 IGF1 IGFBP3 PHEX
5 limbs/digits/tail MP:0005371 9.7 IGFBP3 PHEX TNFRSF11B COL1A1 COL1A2 FGFR3
6 renal/urinary system MP:0005367 9.56 CD2AP CD36 COL1A1 FGFR3 IGF1 IGFBP3
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;Placebo IV Infusion 5% Dextrose

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 28 COL1A1
2 Osteogenesis Imperfecta Type 1 28

Anatomical Context for Osteogenesis Imperfecta, Type I

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

38
Bone, Eye, Skin, Testes, Kidney

Publications for Osteogenesis Imperfecta, Type I

Articles related to Osteogenesis Imperfecta, Type I:

(show top 50) (show all 61)
# Title Authors Year
1
Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI). ( 28058531 )
2017
2
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
3
Application of nexta89generation sequencing for molecular diagnosis in a large family with osteogenesis imperfecta type I. ( 28901398 )
2017
4
Static postural control in youth with osteogenesis imperfecta type I. ( 28433416 )
2017
5
Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate. ( 26957348 )
2016
6
Ultrasonographic early diagnosis of osteogenesis imperfecta type I: implications for pre and post-natal therapy. ( 27052443 )
2016
7
Ultrasound findings of a fetus with osteogenesis imperfecta type I. ( 27040421 )
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 COL1A1 Deletions. ( 26478226 )
2015
10
Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family. ( 25696019 )
2015
11
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
12
A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1. ( 24682174 )
2014
13
Osteogenesis imperfecta type I: A case report. ( 24926339 )
2014
14
Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I. ( 24248189 )
2013
15
Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations. ( 24296239 )
2013
16
Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I. ( 23293527 )
2013
17
Teriparatide treatment in adult patients with osteogenesis imperfecta type I. ( 23907723 )
2013
18
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
19
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. ( 22795108 )
2012
20
Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists. ( 21739105 )
2012
21
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
22
Ebstein's anomaly in a child with osteogenesis imperfecta type I. ( 22461818 )
2011
23
An unusual presentation of osteogenesis imperfecta type I. ( 23754901 )
2011
24
[Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I]. ( 19199251 )
2009
25
25-gauge sutureless vitrectomy in osteogenesis imperfecta type I. ( 25389586 )
2009
26
[Molecular diagnosis of osteogenesis imperfecta type I]. ( 19145934 )
2008
27
A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family. ( 18755172 )
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
Prospective comparative case study of uterine collagen in a woman with osteogenesis imperfecta type 1 who had previously ruptured her uterus. ( 17999312 )
2007
31
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. ( 16786509 )
2006
32
Single-dose pharmacokinetics and tolerability of alendronate 35- and 70-milligram tablets in children and adolescents with osteogenesis imperfecta type I. ( 15827104 )
2005
33
Effect of treatment with alendronate in osteogenesis imperfecta type I: a case report. ( 15647630 )
2004
34
[Osteogenesis imperfecta Type 1: a case presentation with a new mutation in gene COL1A1]. ( 15106082 )
2004
35
Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. ( 15580207 )
2004
36
Gene symbol: COL1A1. Disease: Osteogenesis imperfecta type I. ( 15046069 )
2004
37
Hypercalciuria in osteogenesis imperfecta type I. ( 14520592 )
2003
38
Effects of treatment with etidronate and alfacalcidol for osteogenesis imperfecta type I: a case report. ( 12665966 )
2003
39
Increased bone resorption with decreased activity and increased recruitment of osteoblasts in osteogenesis imperfecta type I. ( 11984701 )
2002
40
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. ( 11317364 )
2001
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 a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. ( 11113887 )
2000
44
MRI-visible pericochlear lesions in osteogenesis imperfecta type I. ( 11044947 )
2000
45
Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing. ( 10521849 )
1999
46
Bone density measurements by computed tomography in osteogenesis imperfecta type I. ( 10550462 )
1999
47
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
48
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
49
Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I. ( 9228859 )
1997
50
Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. ( 8808594 )
1996

Variations for Osteogenesis Imperfecta, Type I

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

71 (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 162)
# 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 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.1588G> A (p.Gly530Ser) single nucleotide variant Pathogenic rs67682641 GRCh37 Chromosome 17, 48271736: 48271736
8 COL1A1 COL1A1, IVS26DS, G-A, +1 single nucleotide variant Pathogenic
9 COL1A1 NM_000088.3(COL1A1): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72656314 GRCh37 Chromosome 17, 48264847: 48264847
10 COL1A1 COL1A1, IVS19DS, G-C, +1 single nucleotide variant Pathogenic
11 COL1A1 NM_000088.3(COL1A1): c.2161C> T (p.Gln721Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922145 GRCh37 Chromosome 17, 48268818: 48268818
12 COL1A1 NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter) single nucleotide variant Pathogenic rs72653173 GRCh37 Chromosome 17, 48266126: 48266126
13 COL1A1 NM_000088.3(COL1A1): c.579delT (p.Gly194Valfs) deletion Pathogenic/Likely pathogenic rs72667023 GRCh37 Chromosome 17, 48275531: 48275531
14 COL1A1 NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter) single nucleotide variant Pathogenic rs794726873 GRCh37 Chromosome 17, 48278784: 48278784
15 COL1A1 NM_000088.3(COL1A1): c.959G> A (p.Gly320Asp) single nucleotide variant Likely pathogenic rs72645353 GRCh37 Chromosome 17, 48273559: 48273559
16 COL1A1 NM_000088.3(COL1A1): c.1767+2T> G single nucleotide variant Pathogenic rs794727394 GRCh37 Chromosome 17, 48271302: 48271302
17 COL1A1 NM_000088.3(COL1A1): c.2866G> A (p.Gly956Arg) single nucleotide variant Likely pathogenic rs797045033 GRCh37 Chromosome 17, 48266600: 48266600
18 COL1A1 NM_000088.3(COL1A1): c.2775delT (p.Gly926Valfs) deletion Pathogenic rs878853274 GRCh37 Chromosome 17, 48266792: 48266792
19 COL1A2 NM_000089.3(COL1A2): c.577G> A (p.Gly193Ser) single nucleotide variant Pathogenic rs72656370 GRCh37 Chromosome 7, 94035598: 94035598
20 COL1A1 NM_000088.3(COL1A1): c.1678G> A (p.Gly560Ser) single nucleotide variant Pathogenic rs67507747 GRCh38 Chromosome 17, 50194032: 50194032
21 COL1A1 NM_000088.3(COL1A1): c.3935G> A (p.Trp1312Ter) single nucleotide variant Likely pathogenic rs886039880 GRCh37 Chromosome 17, 48263748: 48263748
22 COL1A1 NM_000088.3(COL1A1): c.1875+1G> C single nucleotide variant Pathogenic rs72651622 GRCh37 Chromosome 17, 48270157: 48270157
23 COL1A1 NM_000088.3(COL1A1): c.2434G> A (p.Gly812Ser) single nucleotide variant Likely pathogenic rs886042260 GRCh37 Chromosome 17, 48267705: 48267705
24 COL1A1 NM_000088.3(COL1A1): c.3567delT (p.Gly1190Valfs) deletion Pathogenic rs886042286 GRCh37 Chromosome 17, 48264248: 48264248
25 COL1A1 NM_000088.3(COL1A1): c.2930G> T (p.Gly977Val) single nucleotide variant Likely pathogenic rs886042308 GRCh37 Chromosome 17, 48266536: 48266536
26 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
27 COL1A1 NM_000088.3(COL1A1): c.896delG (p.Gly299Valfs) deletion Pathogenic rs886042473 GRCh37 Chromosome 17, 48273852: 48273852
28 COL1A1 NM_000088.3(COL1A1): c.643-2A> G single nucleotide variant Pathogenic rs886042602 GRCh37 Chromosome 17, 48275148: 48275148
29 COL1A1 NM_000088.3(COL1A1): c.2991delT (p.Gly998Valfs) deletion Pathogenic rs886042603 GRCh37 Chromosome 17, 48266318: 48266318
30 COL1A1 NM_000088.3(COL1A1): c.3939C> A (p.Tyr1313Ter) single nucleotide variant Pathogenic rs886042609 GRCh37 Chromosome 17, 48263744: 48263744
31 COL1A1 NM_000088.3(COL1A1): c.3162delT (p.Gly1055Alafs) deletion Pathogenic rs72654794 GRCh37 Chromosome 17, 48265936: 48265936
32 COL1A1 NM_000088.3(COL1A1): c.2089C> T (p.Arg697Ter) single nucleotide variant Pathogenic rs72651642 GRCh37 Chromosome 17, 48269187: 48269187
33 COL1A2 NM_000089.3(COL1A2): c.2656G> A (p.Gly886Ser) single nucleotide variant Likely pathogenic rs886043796 GRCh37 Chromosome 7, 94053738: 94053738
34 COL1A1 NM_000088.3(COL1A1): c.1354-12G> A single nucleotide variant Pathogenic rs72648337 GRCh37 Chromosome 17, 48272201: 48272201
35 COL1A2 NM_000089.3(COL1A2): c.2314G> A (p.Gly772Ser) single nucleotide variant Pathogenic rs72658185 GRCh37 Chromosome 7, 94050339: 94050339
36 COL1A2 NM_000089.3(COL1A2): c.326G> A (p.Gly109Asp) single nucleotide variant Pathogenic rs1114167416 GRCh38 Chromosome 7, 94404694: 94404694
37 COL1A2 NM_000089.3(COL1A2): c.793G> C (p.Gly265Arg) single nucleotide variant Pathogenic rs1114167417 GRCh37 Chromosome 7, 94038634: 94038634
38 COL1A2 NM_000089.3(COL1A2): c.856G> A (p.Gly286Ser) single nucleotide variant Pathogenic rs1114167418 GRCh37 Chromosome 7, 94038697: 94038697
39 COL1A2 NM_000089.3(COL1A2): c.874G> A (p.Gly292Ser) single nucleotide variant Pathogenic rs906553840 GRCh38 Chromosome 7, 94409403: 94409403
40 COL1A2 NM_000089.3(COL1A2): c.1009G> A (p.Gly337Ser) single nucleotide variant Pathogenic/Likely pathogenic rs67865220 GRCh37 Chromosome 7, 94039107: 94039107
41 COL1A2 NM_000089.3(COL1A2): c.1197+5G> A single nucleotide variant Pathogenic rs68132885 GRCh38 Chromosome 7, 94410532: 94410532
42 COL1A2 NM_000089.3(COL1A2): c.1801G> A (p.Gly601Ser) single nucleotide variant Pathogenic rs72658143 GRCh37 Chromosome 7, 94045753: 94045753
43 COL1A2 NM_000089.3(COL1A2): c.2835+1G> A single nucleotide variant Pathogenic rs72659310 GRCh38 Chromosome 7, 94425664: 94425664
44 COL1A1 NM_000088.3(COL1A1): c.3424-6C> G single nucleotide variant Pathogenic rs370865189 GRCh37 Chromosome 17, 48264489: 48264489
45 COL1A2 NM_000089.3(COL1A2): c.3304G> T (p.Gly1102Cys) single nucleotide variant Pathogenic rs67768540 GRCh38 Chromosome 7, 94427663: 94427663
46 COL1A1 NM_000088.3(COL1A1): c.4386delC (p.Phe1463Serfs) deletion Pathogenic rs1114167406 GRCh37 Chromosome 17, 48262872: 48262872
47 COL1A1 NM_000088.3(COL1A1): c.4332dup (p.Asp1446Glyfs) duplication Pathogenic rs1114167405 GRCh37 Chromosome 17, 48262926: 48262926
48 COL1A1 NM_000088.3(COL1A1): c.3233_3236delTCGG (p.Val1078Alafs) deletion Pathogenic rs1114167398 GRCh37 Chromosome 17, 48265482: 48265485
49 COL1A1 NM_000088.3(COL1A1): c.3815G> T (p.Gly1272Val) single nucleotide variant Pathogenic rs1114167402 GRCh38 Chromosome 17, 50186507: 50186507
50 COL1A1 NM_000088.3(COL1A1): c.3790A> G (p.Met1264Val) single nucleotide variant Pathogenic rs72656340 GRCh38 Chromosome 17, 50186664: 50186664

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 9.62 BGLAP COL1A1 COL1A2 IGFBP3
2 collagen trimer GO:0005581 9.43 CD36 COL1A1 COL1A2
3 insulin-like growth factor ternary complex GO:0042567 9.16 IGF1 IGFBP3
4 insulin-like growth factor binding protein complex GO:0016942 8.96 IGF1 IGFBP3
5 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 9.69 BGLAP COL1A1 IGFBP3
2 collagen catabolic process GO:0030574 9.54 COL1A1 COL1A2 PEPD
3 response to vitamin D GO:0033280 9.52 BGLAP PHEX
4 bone development GO:0060348 9.5 BGLAP PHEX PLS3
5 response to inorganic substance GO:0010035 9.49 BGLAP TNFRSF11B
6 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.48 IGF1 IGFBP3
7 protein heterotrimerization GO:0070208 9.46 COL1A1 COL1A2
8 cellular response to vitamin D GO:0071305 9.43 BGLAP PHEX
9 blood vessel development GO:0001568 9.43 COL1A1 COL1A2 DLX3
10 skin morphogenesis GO:0043589 9.4 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
11 DGIdb
16 ExPASy
18 FMA
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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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