OI3
MCID: OST122
MIFTS: 58

Osteogenesis Imperfecta, Type Iii (OI3)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Iii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Iii:

Name: Osteogenesis Imperfecta, Type Iii 58 41
Osteogenesis Imperfecta Type Iii 12 54 76 30 6 74
Osteogenesis Imperfecta Type 3 12 60 15
Oi, Type Iii 58 76 56
Oi3 58 12 76
Progressive Deforming Osteogenesis Imperfecta 54 60
Severe Osteogenesis Imperfecta 54 60
Oi Type Iii 54 13
Oi Type 3 54 60
Osteogenesis Imperfecta, Progressively Deforming, with Normal Sclerae 58
Osteogenesis Imperfecta, Progressively Deforming with Normal Sclerae 54
Progressively Deforming Osteogenesis Imperfecta with Normal Sclerae 76
Progressively Deforming Osteogenesis Imperfecta with Normal Sclera 12
Progressively Deforming Oi 54
Osteogenesis Imperfecta 3 76
Oi-Iii 76

Characteristics:

Orphanet epidemiological data:

60
osteogenesis imperfecta type 3
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
some mutations have been found in homozygosity and the phenotype is more severe than that of the heterozygous parents


HPO:

33
osteogenesis imperfecta, type iii:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110339
OMIM 58 259420
MeSH 45 D010013
ICD10 34 Q78.0
MESH via Orphanet 46 C536044
ICD10 via Orphanet 35 Q78.0
UMLS via Orphanet 75 C0268362
Orphanet 60 ORPHA216812
MedGen 43 C0268362
UMLS 74 C0268362

Summaries for Osteogenesis Imperfecta, Type Iii

NIH Rare Diseases : 54 Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. Other signs and symptoms vary significantly from person to person but may include severe bone fragility, bone malformations, short stature, dental problems (dentinogenesis imperfect), macrocephaly (unusually large head), hearing loss, and blue sclerae (whites of the eyes). Most affected people are unable to walk without assistance. OI type III is caused by changes (mutations) in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Osteogenesis Imperfecta, Type Iii, also known as osteogenesis imperfecta type iii, is related to osteogenesis imperfecta, type vi and osteogenesis imperfecta, type v. An important gene associated with Osteogenesis Imperfecta, Type Iii is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. The drugs Zoledronic Acid and Pamidronate have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and bone marrow, and related phenotypes are frontal bossing and scoliosis

Disease Ontology : 12 An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has material basis in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

UniProtKB/Swiss-Prot : 76 Osteogenesis imperfecta 3: 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. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta.

Description from OMIM: 259420

Related Diseases for Osteogenesis Imperfecta, Type Iii

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 Iii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type vi 32.3 COL1A1 SERPINF1
2 osteogenesis imperfecta, type v 32.2 CD36 COL1A1 COL1A2
3 osteogenesis imperfecta, type viii 31.7 COL1A1 COL1A2 CRTAP P3H1
4 osteogenesis imperfecta, type iv 30.9 CD36 COL1A1 COL1A2 CRTAP FKBP10 PPIB
5 brittle bone disorder 30.2 BGLAP CD36 COL1A1 COL1A2 CRTAP FKBP10
6 osteogenesis imperfecta, type xiii 11.2
7 osteogenesis imperfecta, type xiv 11.2
8 osteogenesis imperfecta, type xv 11.2
9 col1a1/2-related osteogenesis imperfecta 10.9
10 ehlers-danlos/osteogenesis imperfecta syndrome 10.3 COL1A1 COL1A2
11 larsen-like syndrome 10.3 COL1A1 COL1A2
12 ehlers-danlos syndrome, classic type, 2 10.3 CD36 COL1A1
13 classic ehlers-danlos syndrome 10.3 COL1A1 COL1A2
14 osteogenesis imperfecta, type xi 10.3 CRTAP FKBP10
15 scleroderma, familial progressive 10.2 CD36 COL1A1 COL1A2
16 caffey disease 10.2 CD36 COL1A1 COL1A2
17 myxofibrosarcoma 10.2 CD36 CREB3L1
18 dental fluorosis 10.2 BGLAP COL1A2
19 fibromatosis, gingival, 1 10.1 CD36 SERPINH1
20 ehlers-danlos syndrome, classic type, 1 10.1 COL1A1 COL1A2
21 osteogenesis imperfecta, type i 10.1 BGLAP CD36 COL1A1 COL1A2
22 high bone mass osteogenesis imperfecta 10.1 BMP1 COL1A1 COL1A2
23 cervical incompetence 10.1 CRTAP P3H1
24 cerebellar hypoplasia 10.1
25 brachydactyly 10.1
26 hypogonadotropic hypogonadism 10.1
27 hypogonadism 10.1
28 hypogonadotropism 10.1
29 arachnoid cysts 10.1
30 osteogenesis imperfecta, type vii 10.1 CD36 COL1A1 COL1A2 CRTAP
31 osteoporosis, juvenile 10.0 BGLAP CD36 COL1A1 WNT1
32 coxa vara 10.0
33 osteogenesis imperfecta, type ix 10.0
34 osteogenesis imperfecta, type xvi 10.0
35 hypophosphatasia 10.0
36 intestinal obstruction 10.0
37 autoimmune progesterone dermatitis 10.0
38 osteoporosis 9.9 BGLAP CD36 COL1A1 COL1A2 WNT1
39 bone disease 9.9 BGLAP CD36 COL1A1
40 osteogenesis imperfecta, type ii 9.6 CD36 COL1A1 COL1A2 CRTAP P3H1 PPIB
41 bone development disease 9.6 COL1A1 COL1A2 CRTAP FKBP10 P3H1 PPIB
42 dentinogenesis imperfecta 9.5 BMP1 COL1A1 COL1A2 CRTAP FKBP10 P3H1
43 connective tissue disease 9.3 COL1A1 COL1A2 P3H1 PLOD2 PPIB SERPINH1
44 bruck syndrome 8.2 BMP1 CD36 COL1A1 COL1A2 CRTAP FKBP10

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



Diseases related to Osteogenesis Imperfecta, Type Iii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Iii

Human phenotypes related to Osteogenesis Imperfecta, Type Iii:

33 (show all 25)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 33 HP:0002007
2 scoliosis 33 HP:0002650
3 kyphosis 33 HP:0002808
4 hearing impairment 33 HP:0000365
5 micrognathia 33 HP:0000347
6 pulmonary arterial hypertension 33 HP:0002092
7 dentinogenesis imperfecta 33 HP:0000703
8 abnormality of the thorax 33 HP:0000765
9 wormian bones 33 HP:0002645
10 protrusio acetabuli 33 HP:0003179
11 platybasia 33 HP:0002691
12 abnormality of the nervous system 33 HP:0000707
13 recurrent fractures 33 HP:0002757
14 neonatal short-limb short stature 33 HP:0008921
15 wide anterior fontanel 33 HP:0000260
16 triangular face 33 HP:0000325
17 blue sclerae 33 HP:0000592
18 multiple prenatal fractures 33 HP:0005855
19 decreased calvarial ossification 33 HP:0005474
20 slender long bone 33 HP:0003100
21 biconcave vertebral bodies 33 HP:0004586
22 tibial bowing 33 HP:0002982
23 basilar impression 33 HP:0005758
24 bowing of limbs due to multiple fractures 33 HP:0003023
25 severe generalized osteoporosis 33 HP:0005897

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
frontal bossing
micrognathia
triangular face

Skeletal Skull:
wormian bones
large anterior fontanelle
undermineralized calvarium

Skeletal Limbs:
tibial bowing
bowing of limbs due to multiple fractures
long bone deformity evident at birth or in the first 2 years of life
thin gracile long bones
short deformed femurs
more
Respiratory Lung:
pulmonary hypertension

Growth Height:
short limb dwarfism recognizable at birth
adult height 92-108 cm

Head And Neck Teeth:
dentinogenesis imperfecta (both primary and secondary teeth)

Skeletal:
severe, generalized osteoporosis
multiple fractures present at birth

Skeletal Spine:
scoliosis
kyphosis
codfish vertebrae

Skeletal Pelvis:
protrusio acetabuli

Neurologic Central Nervous System:
basilar impression

Head And Neck Ears:
hearing loss

Head And Neck Eyes:
blue sclerae at birth becoming normal with age

Chest Ribs Sternum Clavicles And Scapulae:
thin gracile ribs

Clinical features from OMIM:

259420

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iii:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 BMP1 CD36 COL1A1 COL1A2 CREB3L1 CRTAP
2 cardiovascular system MP:0005385 10.01 BMP1 CD36 COL1A1 COL1A2 FKBP10 MCAM
3 hematopoietic system MP:0005397 9.91 BMP1 CD36 COL1A1 CREB3L1 FKBP10 MCAM
4 craniofacial MP:0005382 9.85 BMP1 COL1A1 FKBP10 PPIB SERPINH1 WNT1
5 limbs/digits/tail MP:0005371 9.7 BMP1 COL1A1 COL1A2 FKBP10 P3H1 PPIB
6 muscle MP:0005369 9.43 BMP1 CD36 COL1A1 COL1A2 P3H1 WNT1
7 skeleton MP:0005390 9.4 BMP1 CD36 COL1A1 COL1A2 CREB3L1 CRTAP

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Iii

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zoledronic Acid Approved Phase 3,Phase 2 118072-93-8 68740
2
Pamidronate Approved Phase 3 40391-99-9 4674
3 Hormones Phase 3
4 Hormone Antagonists Phase 3
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
6 Bone Density Conservation Agents Phase 3,Phase 2
7 Diphosphonates Phase 3,Phase 2
8 Liver Extracts Phase 1, Phase 2
9
Busulfan Approved, Investigational Phase 1 55-98-1 2478
10
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
11
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
12 Immunosuppressive Agents Phase 1
13 Antineoplastic Agents, Alkylating Phase 1
14 Cyclosporins Phase 1
15 Antirheumatic Agents Phase 1
16 Dermatologic Agents Phase 1
17 Immunologic Factors Phase 1
18 Anti-Infective Agents Phase 1
19 Calcineurin Inhibitors Phase 1
20 Alkylating Agents Phase 1
21 Antifungal Agents Phase 1
22 Antibodies, Monoclonal Phase 1
23 Antibodies Phase 1
24 Immunoglobulins Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3 Humatrope
2 An Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis Imperfecta Completed NCT00982124 Phase 3 Zoledronic Acid
3 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3 Pamidronate (Aredia)
4 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
5 A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804 Active, not recruiting NCT03118570 Phase 2 BPS804
6 Boost Brittle Bones Before Birth Not yet recruiting NCT03706482 Phase 1, Phase 2
7 Repeated Infusions of Mesenchymal Stromal Cells in Children With Osteogenesis Imperfecta Completed NCT01061099 Phase 1
8 Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation Completed NCT00705120 Phase 1 Cyclophosphamide;Cyclosporin;Busulfan
9 Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta Recruiting NCT03064074 Phase 1 Fresolimumab

Search NIH Clinical Center for Osteogenesis Imperfecta, Type Iii

Genetic Tests for Osteogenesis Imperfecta, Type Iii

Genetic tests related to Osteogenesis Imperfecta, Type Iii:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type Iii 30 COL1A1 COL1A2

Anatomical Context for Osteogenesis Imperfecta, Type Iii

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

42
Bone, Eye, Bone Marrow, Skin, Colon

Publications for Osteogenesis Imperfecta, Type Iii

Articles related to Osteogenesis Imperfecta, Type Iii:

(show top 50) (show all 57)
# Title Authors Year
1
Treatment of tibial deformities with the Fassier-Duval telescopic nail and minimally invasive percutaneous osteotomies in patients with osteogenesis imperfecta type III. ( 30212425 )
2019
2
Personalized surgery approach in severe form of osteogenesis imperfecta type III: point of view. ( 30720562 )
2019
3
Intraoperative bleeding in patients with osteogenesis imperfecta type III treated by Fassier-Duval femoral rodding: analysis of risk factors. ( 28723699 )
2018
4
Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man. ( 29552444 )
2018
5
Pregnancies complicated by maternal osteogenesis imperfecta type III: a case report and review of literature. ( 29988651 )
2018
6
Combined Spinal-Epidural Anesthesia With Dexmedetomidine-Based Sedation for Multiple Corrective Osteotomies in a Child With Osteogenesis Imperfecta Type III: A Case Report. ( 28448325 )
2017
7
Craniofacial manifestations in osteogenesis imperfecta type III in South Africa. ( 29607091 )
2017
8
Osteogenesis imperfecta type III in South Africa: Psychosocial challenges. ( 27245537 )
2016
9
Osteogenesis imperfecta type III and hypogonadotropic hypogonadism result in severe bone loss: a case report. ( 26193843 )
2015
10
Severe osteogenesis imperfecta Type-III and its challenging treatment in newborn and preschool children. A systematic review. ( 25943292 )
2015
11
Increased nuchal translucency and short femur length as possible early signs of osteogenesis imperfecta type III. ( 23741540 )
2013
12
Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III. ( 23072183 )
2012
13
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. ( 19208385 )
2009
14
New trends in the treatment of osteogenesis imperfecta type III - own experience. ( 19153548 )
2008
15
Severe cerebellar hypoplasia associated with osteogenesis imperfecta type III. ( 17719950 )
2007
16
Carcinoma of left colon presenting as mechanical obstruction in a patient with osteogenesis imperfecta type III. ( 17171434 )
2007
17
Comparison of nanoindentation measurements between osteogenesis imperfecta Type III and Type IV and between different anatomic locations (femur/tibia versus iliac crest). ( 17453908 )
2007
18
Further safety enhancement of a specialized power assisted tricycle for a child with osteogenesis imperfecta type III and design of an adjustble hand power tricycle. ( 16817593 )
2006
19
Safety enhancement of a specialized power assisted tricycle for a child with osteogenesis imperfecta type III. ( 15850131 )
2005
20
Treatment of poor linear growth in a patient with osteogenesis imperfecta type III. ( 15598484 )
2004
21
High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. ( 15024692 )
2004
22
Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen. ( 12870654 )
2003
23
G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha1(I) chain and alters folding of the N-terminal end of the helix. ( 11286507 )
2001
24
Calcium kinetics in children with osteogenesis imperfecta type III and IV: pre- and post-growth hormone therapy. ( 10920211 )
2000
25
Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation. ( 10807697 )
2000
26
Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV. ( 10511119 )
1999
27
Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. ( 9240878 )
1997
28
Histopathologic and electron-microscopic features of corneal and scleral collagen fibers in osteogenesis imperfecta type III. ( 9248835 )
1997
29
(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta? ( 9143923 )
1997
30
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen. ( 8728690 )
1996
31
Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta. ( 8910493 )
1996
32
Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. ( 8669434 )
1996
33
Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding. ( 8723681 )
1996
34
Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes. ( 8786074 )
1996
35
A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. ( 7749416 )
1995
36
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. ( 7860070 )
1995
37
Type 1 collagen synthesis by skin fibroblasts from 17 patients with osteogenesis imperfecta type III. ( 8747514 )
1995
38
Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1). ( 7789952 )
1995
39
Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III. ( 8019571 )
1994
40
A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals. ( 8081394 )
1994
41
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. ( 7881420 )
1994
42
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. ( 8100856 )
1993
43
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. ( 8444468 )
1993
44
Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. ( 8456809 )
1993
45
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method. ( 2064612 )
1991
46
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. ( 2037280 )
1991
47
Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific. ( 2511192 )
1989
48
Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype. ( 2794057 )
1989
49
Collagen studies in an osteogenesis imperfecta type III family. ( 3214053 )
1988
50
Osteogenesis imperfecta type III: an ancient mutation in Africa? ( 3425600 )
1987

Variations for Osteogenesis Imperfecta, Type Iii

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

76 (show all 41)
# Symbol AA change Variation ID SNP ID
1 COL1A1 p.Gly332Arg VAR_001650
2 COL1A1 p.Gly350Arg VAR_001651
3 COL1A1 p.Gly530Ser VAR_001666
4 COL1A1 p.Gly593Cys VAR_001673
5 COL1A1 p.Gly593Ser VAR_001674
6 COL1A1 p.Gly704Cys VAR_001678
7 COL1A1 p.Gly719Ser VAR_001680
8 COL1A1 p.Gly767Ser VAR_001686
9 COL1A1 p.Gly821Ser VAR_001690
10 COL1A1 p.Gly884Ser VAR_001697
11 COL1A1 p.Gly1022Ser VAR_001702
12 COL1A1 p.Gly1040Ser VAR_001705
13 COL1A1 p.Gly1049Ser VAR_001708
14 COL1A1 p.Gly1058Ser VAR_001709
15 COL1A1 p.Gly1076Ser VAR_001713
16 COL1A1 p.Gly1151Ser VAR_001722
17 COL1A1 p.Gly1187Ser VAR_001729
18 COL1A1 p.Leu1464Pro VAR_001737
19 COL1A1 p.Gly866Ser VAR_008118
20 COL1A1 p.Gly203Val VAR_063295
21 COL1A2 p.Gly337Cys VAR_001857 rs67865220
22 COL1A2 p.Gly337Ser VAR_001858 rs67865220
23 COL1A2 p.Gly349Cys VAR_001860 rs66773001
24 COL1A2 p.Gly460Ser VAR_001863 rs72658118
25 COL1A2 p.Gly517Arg VAR_001865 rs72658126
26 COL1A2 p.Gly676Val VAR_001875 rs66883877
27 COL1A2 p.Gly778Ser VAR_001884 rs72658186
28 COL1A2 p.Gly892Asp VAR_001892 rs72659304
29 COL1A2 p.Gly949Ser VAR_001894 rs72659312
30 COL1A2 p.Gly1012Ser VAR_001897 rs72659319
31 COL1A2 p.Gly1096Ala VAR_001901 rs72659337
32 COL1A2 p.Thr1148Pro VAR_001904 rs1800250
33 COL1A2 p.Gly331Asp VAR_008119 rs67729041
34 COL1A2 p.Gly973Val VAR_008120 rs67609234
35 COL1A2 p.Gly358Ser VAR_063352 rs66619856
36 COL1A2 p.Gly676Asp VAR_063361 rs66883877
37 COL1A2 p.Gly820Ser VAR_063370 rs72658191
38 COL1A2 p.Gly835Cys VAR_063371
39 COL1A2 p.Gly856Arg VAR_063372
40 COL1A2 p.Gly991Val VAR_063377 rs72659316
41 COL1A2 p.Gly1087Asp VAR_063381 rs72659335

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Iii:

6 (show top 50) (show all 114)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A2 NM_000089.3(COL1A2): c.4001_4004delATAA (p.Asn1334Serfs) deletion Pathogenic rs72659345 GRCh37 Chromosome 7, 94059605: 94059608
2 COL1A2 NM_000089.3(COL1A2): c.4001_4004delATAA (p.Asn1334Serfs) deletion Pathogenic rs72659345 GRCh38 Chromosome 7, 94430293: 94430296
3 COL1A2 NM_000089.3(COL1A2): c.775G> T (p.Gly259Cys) single nucleotide variant Pathogenic rs121912905 GRCh37 Chromosome 7, 94038118: 94038118
4 COL1A2 NM_000089.3(COL1A2): c.775G> T (p.Gly259Cys) single nucleotide variant Pathogenic rs121912905 GRCh38 Chromosome 7, 94408806: 94408806
5 COL1A2 NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val) single nucleotide variant Pathogenic rs121912907 GRCh37 Chromosome 7, 94044575: 94044575
6 COL1A2 NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val) single nucleotide variant Pathogenic rs121912907 GRCh38 Chromosome 7, 94415263: 94415263
7 COL1A2 COL1A2, VAL255DEL deletion Pathogenic
8 COL1A2 NM_000089.3(COL1A2): c.2575G> A (p.Gly859Ser) single nucleotide variant Pathogenic rs72658200 GRCh37 Chromosome 7, 94053657: 94053657
9 COL1A2 NM_000089.3(COL1A2): c.2575G> A (p.Gly859Ser) single nucleotide variant Pathogenic rs72658200 GRCh38 Chromosome 7, 94424345: 94424345
10 COL1A2 NM_000089.3(COL1A2): c.3017G> C (p.Gly1006Ala) single nucleotide variant Pathogenic rs121912911 GRCh37 Chromosome 7, 94055754: 94055754
11 COL1A2 NM_000089.3(COL1A2): c.3017G> C (p.Gly1006Ala) single nucleotide variant Pathogenic rs121912911 GRCh38 Chromosome 7, 94426442: 94426442
12 COL1A2 NM_000089.3(COL1A2): c.2251G> A (p.Gly751Ser) single nucleotide variant Pathogenic rs72658176 GRCh37 Chromosome 7, 94049916: 94049916
13 COL1A2 NM_000089.3(COL1A2): c.2251G> A (p.Gly751Ser) single nucleotide variant Pathogenic rs72658176 GRCh38 Chromosome 7, 94420604: 94420604
14 COL1A2 NM_000089.3(COL1A2): c.1099G> T (p.Gly367Trp) single nucleotide variant Pathogenic rs72656402 GRCh37 Chromosome 7, 94039741: 94039741
15 COL1A2 NM_000089.3(COL1A2): c.1099G> T (p.Gly367Trp) single nucleotide variant Pathogenic rs72656402 GRCh38 Chromosome 7, 94410429: 94410429
16 COL1A2 NM_000089.3(COL1A2): c.3269G> A (p.Gly1090Asp) single nucleotide variant Pathogenic rs267606742 GRCh37 Chromosome 7, 94056940: 94056940
17 COL1A2 NM_000089.3(COL1A2): c.3269G> A (p.Gly1090Asp) single nucleotide variant Pathogenic rs267606742 GRCh38 Chromosome 7, 94427628: 94427628
18 COL1A2 NM_000089.3(COL1A2): c.3295G> A (p.Gly1099Arg) single nucleotide variant Pathogenic rs72659338 GRCh37 Chromosome 7, 94056966: 94056966
19 COL1A2 NM_000089.3(COL1A2): c.3295G> A (p.Gly1099Arg) single nucleotide variant Pathogenic rs72659338 GRCh38 Chromosome 7, 94427654: 94427654
20 COL1A1 NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys) single nucleotide variant Pathogenic rs67368147 GRCh37 Chromosome 17, 48269166: 48269166
21 COL1A1 NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys) single nucleotide variant Pathogenic rs67368147 GRCh38 Chromosome 17, 50191805: 50191805
22 COL1A1 NM_000088.3(COL1A1): c.3064G> A (p.Gly1022Ser) single nucleotide variant Pathogenic rs66523073 GRCh37 Chromosome 17, 48266138: 48266138
23 COL1A1 NM_000088.3(COL1A1): c.3064G> A (p.Gly1022Ser) single nucleotide variant Pathogenic rs66523073 GRCh38 Chromosome 17, 50188777: 50188777
24 COL1A1 COL1A1, EX22DEL deletion Pathogenic
25 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh37 Chromosome 17, 48273524: 48273524
26 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh38 Chromosome 17, 50196163: 50196163
27 COL1A1 NM_000088.3(COL1A1): c.1588G> A (p.Gly530Ser) single nucleotide variant Pathogenic rs67682641 GRCh37 Chromosome 17, 48271736: 48271736
28 COL1A1 NM_000088.3(COL1A1): c.1588G> A (p.Gly530Ser) single nucleotide variant Pathogenic rs67682641 GRCh38 Chromosome 17, 50194375: 50194375
29 COL1A1 NM_000088.3(COL1A1): c.4391T> C (p.Leu1464Pro) single nucleotide variant Pathogenic rs72656353 GRCh37 Chromosome 17, 48262867: 48262867
30 COL1A1 NM_000088.3(COL1A1): c.4391T> C (p.Leu1464Pro) single nucleotide variant Pathogenic rs72656353 GRCh38 Chromosome 17, 50185506: 50185506
31 COL1A1 NM_000088.3(COL1A1): c.3118G> A (p.Gly1040Ser) single nucleotide variant Pathogenic rs72653178 GRCh37 Chromosome 17, 48265980: 48265980
32 COL1A1 NM_000088.3(COL1A1): c.3118G> A (p.Gly1040Ser) single nucleotide variant Pathogenic rs72653178 GRCh38 Chromosome 17, 50188619: 50188619
33 COL1A1 NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser) single nucleotide variant Pathogenic rs72653131 GRCh37 Chromosome 17, 48267406: 48267406
34 COL1A1 NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser) single nucleotide variant Pathogenic rs72653131 GRCh38 Chromosome 17, 50190045: 50190045
35 COL1A1 COL1A1, 562-BP DEL deletion Pathogenic
36 COL1A1 NM_000088.3(COL1A1): c.3040C> T (p.Arg1014Cys) single nucleotide variant Pathogenic rs72653170 GRCh37 Chromosome 17, 48266269: 48266269
37 COL1A1 NM_000088.3(COL1A1): c.3040C> T (p.Arg1014Cys) single nucleotide variant Pathogenic rs72653170 GRCh38 Chromosome 17, 50188908: 50188908
38 COL1A1 NM_000088.3(COL1A1): c.761G> A (p.Gly254Glu) single nucleotide variant Pathogenic rs72645320 GRCh37 Chromosome 17, 48274414: 48274414
39 COL1A1 NM_000088.3(COL1A1): c.761G> A (p.Gly254Glu) single nucleotide variant Pathogenic rs72645320 GRCh38 Chromosome 17, 50197053: 50197053
40 COL1A2 NM_000089.3(COL1A2): c.1971+1G> A single nucleotide variant Pathogenic rs72658151 GRCh37 Chromosome 7, 94047144: 94047144
41 COL1A2 NM_000089.3(COL1A2): c.1971+1G> A single nucleotide variant Pathogenic rs72658151 GRCh38 Chromosome 7, 94417832: 94417832
42 COL1A2 NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs768171831 GRCh37 Chromosome 7, 94055323: 94055323
43 COL1A2 NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs768171831 GRCh38 Chromosome 7, 94426011: 94426011
44 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh38 Chromosome 7, 94426459: 94426459
45 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh37 Chromosome 7, 94055771: 94055771
46 COL1A2 NM_000089.3(COL1A2): c.3047C> A (p.Pro1016His) single nucleotide variant Uncertain significance rs377278762 GRCh37 Chromosome 7, 94055784: 94055784
47 COL1A2 NM_000089.3(COL1A2): c.3047C> A (p.Pro1016His) single nucleotide variant Uncertain significance rs377278762 GRCh38 Chromosome 7, 94426472: 94426472
48 COL1A1 NM_000088.3(COL1A1): c.2089C> T (p.Arg697Ter) single nucleotide variant Pathogenic rs72651642 GRCh37 Chromosome 17, 48269187: 48269187
49 COL1A1 NM_000088.3(COL1A1): c.2089C> T (p.Arg697Ter) single nucleotide variant Pathogenic rs72651642 GRCh38 Chromosome 17, 50191826: 50191826
50 COL1A1 NM_000088.3(COL1A1): c.3233T> C (p.Val1078Ala) single nucleotide variant Uncertain significance rs767525556 GRCh37 Chromosome 17, 48265485: 48265485

Expression for Osteogenesis Imperfecta, Type Iii

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

Pathways for Osteogenesis Imperfecta, Type Iii

GO Terms for Osteogenesis Imperfecta, Type Iii

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.81 COL1A1 COL1A2 CREB3L1 CRTAP FKBP10 P3H1
2 collagen-containing extracellular matrix GO:0062023 9.67 COL1A1 COL1A2 SERPINF1 SERPINH1
3 extracellular space GO:0005615 9.65 BGLAP BMP1 CD36 COL1A1 COL1A2 CRTAP
4 collagen trimer GO:0005581 9.5 COL1A1 COL1A2 SERPINH1
5 endoplasmic reticulum lumen GO:0005788 9.28 BGLAP COL1A1 COL1A2 CRTAP FKBP10 P3H1
6 collagen type I trimer GO:0005584 9.26 COL1A1 COL1A2
7 extracellular region GO:0005576 10.01 BGLAP BMP1 COL1A1 COL1A2 MCAM P3H1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 9.7 CRTAP P3H1 PPIB
2 osteoblast differentiation GO:0001649 9.67 BGLAP COL1A1 CREB3L1
3 skeletal system development GO:0001501 9.62 BGLAP BMP1 COL1A1 COL1A2
4 ossification GO:0001503 9.61 BGLAP BMP1 COL1A1
5 negative regulation of cell-substrate adhesion GO:0010812 9.51 COL1A1 WNT1
6 collagen metabolic process GO:0032963 9.48 P3H1 PLOD2
7 protein heterotrimerization GO:0070208 9.46 COL1A1 COL1A2
8 collagen biosynthetic process GO:0032964 9.4 COL1A1 SERPINH1
9 skin morphogenesis GO:0043589 9.37 COL1A1 COL1A2
10 chaperone-mediated protein folding GO:0061077 9.33 CRTAP P3H1 PPIB
11 negative regulation of post-translational protein modification GO:1901874 9.26 CRTAP P3H1
12 bone development GO:0060348 9.26 BGLAP P3H1 PPIB WNT1
13 collagen fibril organization GO:0030199 8.92 COL1A1 COL1A2 PLOD2 SERPINH1

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

# Name GO ID Score Top Affiliating Genes
1 L-ascorbic acid binding GO:0031418 9.16 P3H1 PLOD2
2 platelet-derived growth factor binding GO:0048407 8.96 COL1A1 COL1A2
3 collagen binding GO:0005518 8.8 P3H1 PPIB SERPINH1

Sources for Osteogenesis Imperfecta, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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34 ICD10
35 ICD10 via Orphanet
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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