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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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Osteogenesis Imperfecta, Type Iii

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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 recessive inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Bone diseases Oral diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


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
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Summaries for Osteogenesis Imperfecta, Type Iii

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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 viii. 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 liver, 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
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Related Diseases for Osteogenesis Imperfecta, Type Iii

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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 42)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type vi 32.4 COL1A1 SERPINF1
2 osteogenesis imperfecta, type viii 31.9 COL1A1 COL1A2 CRTAP P3H1
3 osteogenesis imperfecta, type v 31.7 CD36 COL1A1 COL1A2 FDPS
4 osteogenesis imperfecta, type iv 31.2 CD36 COL1A1 COL1A2 CRTAP FKBP10 PPIB
5 brittle bone disorder 30.0 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 10.6
10 ehlers-danlos/osteogenesis imperfecta syndrome 10.4 COL1A1 COL1A2
11 larsen-like syndrome 10.3 COL1A1 COL1A2
12 ehlers-danlos syndrome, classic type, 2 10.3 CD36 COL1A1
13 osteogenesis imperfecta, type xi 10.3 CRTAP FKBP10
14 classic ehlers-danlos syndrome 10.3 COL1A1 COL1A2
15 scleroderma, familial progressive 10.3 CD36 COL1A1 COL1A2
16 caffey disease 10.2 CD36 COL1A1 COL1A2
17 myxofibrosarcoma 10.2 CD36 CREB3L1
18 high bone mass osteogenesis imperfecta 10.2 BMP1 COL1A1 COL1A2
19 cervical incompetence 10.2 CRTAP P3H1
20 fibromatosis, gingival, 1 10.2 CD36 SERPINH1
21 osteogenesis imperfecta, type vii 10.2 CD36 COL1A1 COL1A2 CRTAP
22 cerebellar hypoplasia 10.1
23 brachydactyly 10.1
24 hypogonadotropic hypogonadism 10.1
25 hypogonadism 10.1
26 hypogonadotropism 10.1
27 arachnoid cysts 10.1
28 dental fluorosis 10.0 BGLAP COL1A2
29 coxa vara 10.0
30 hypophosphatasia 10.0
31 intestinal obstruction 10.0
32 autoimmune progesterone dermatitis 10.0
33 nipah virus disease 10.0
34 adult fibrosarcoma 9.9 COL1A1 FDPS
35 osteoporosis, juvenile 9.9 BGLAP CD36 COL1A1 IGFBP3 WNT1
36 osteogenesis imperfecta, type ii 9.8 CD36 COL1A1 COL1A2 CRTAP P3H1 PPIB
37 bone development disease 9.8 COL1A1 COL1A2 CRTAP FKBP10 P3H1 PPIB
38 dentinogenesis imperfecta 9.8 BMP1 COL1A1 COL1A2 CRTAP FKBP10 P3H1
39 connective tissue disease 9.7 COL1A1 COL1A2 P3H1 PLOD2 PPIB SERPINH1
40 osteogenesis imperfecta, type i 9.4 BGLAP CD36 COL1A1 COL1A2 IGFBP3 PEPD
41 osteoporosis 9.4 BGLAP CD36 COL1A1 COL1A2 FDPS IGFBP3
42 bruck syndrome 8.8 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
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Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Iii

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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 10.1 BMP1 CD36 COL1A1 COL1A2 CREB3L1 CRTAP
2 cardiovascular system MP:0005385 10.07 BMP1 CD36 COL1A1 COL1A2 FKBP10 MCAM
3 hematopoietic system MP:0005397 9.96 BMP1 CD36 COL1A1 CREB3L1 FKBP10 MCAM
4 limbs/digits/tail MP:0005371 9.81 BMP1 COL1A1 COL1A2 FKBP10 IGFBP3 NOTO
5 adipose tissue MP:0005375 9.8 BMP1 CD36 COL1A1 IGFBP3 P3H1
6 muscle MP:0005369 9.56 BMP1 CD36 COL1A1 COL1A2 IGFBP3 P3H1
7 skeleton MP:0005390 9.47 BMP1 CD36 COL1A1 COL1A2 CREB3L1 CRTAP
Sources

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Iii

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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, Hormone Substitutes, and Hormone Antagonists Phase 3
4 Hormone Antagonists Phase 3
5 Hormones 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 6055-19-2, 50-18-0 2907
12 Antifungal Agents Phase 1
13 Alkylating Agents Phase 1
14 Dermatologic Agents Phase 1
15 Immunosuppressive Agents Phase 1
16 Cyclosporins Phase 1
17 Anti-Infective Agents Phase 1
18 Immunologic Factors Phase 1
19 Antirheumatic Agents Phase 1
20 Antineoplastic Agents, Alkylating Phase 1
21 Calcineurin Inhibitors 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

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Genetic Tests for Osteogenesis Imperfecta, Type Iii

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Genetic tests related to Osteogenesis Imperfecta, Type Iii:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type Iii 30 COL1A1 COL1A2
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Anatomical Context for Osteogenesis Imperfecta, Type Iii

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

42
Bone, Eye, Liver, Bone Marrow, Skin, Colon
Sources

Publications for Osteogenesis Imperfecta, Type Iii

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Articles related to Osteogenesis Imperfecta, Type Iii:

(show all 39)
# 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 SouthA 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
Comparison of nanoindentation measurements between osteogenesis imperfecta Type III and Type IV and between different anatomic locations (femur/tibia versus iliac crest). ( 17453908 )
2007
17
Carcinoma of left colon presenting as mechanical obstruction in a patient with osteogenesis imperfecta type III. ( 17171434 )
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
Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen. ( 12870654 )
2003
22
Calcium kinetics in children with osteogenesis imperfecta type III and IV: pre- and post-growth hormone therapy. ( 10920211 )
2000
23
Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV. ( 10511119 )
1999
24
Histopathologic and electron-microscopic features of corneal and scleral collagen fibers in osteogenesis imperfecta type III. ( 9248835 )
1997
25
Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. ( 9240878 )
1997
26
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
27
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. ( 7860070 )
1995
28
Type 1 collagen synthesis by skin fibroblasts from 17 patients with osteogenesis imperfecta type III. ( 8747514 )
1995
29
A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. ( 7749416 )
1995
30
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
31
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
32
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. ( 8100856 )
1993
33
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. ( 8444468 )
1993
34
Collagen studies in an osteogenesis imperfecta type III family. ( 3214053 )
1988
35
Prenatal diagnosis of osteogenesis imperfecta type III. ( 3547385 )
1987
36
Osteogenesis imperfecta type III: an ancient mutation in Africa? ( 3425600 )
1987
37
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. ( 3953678 )
1986
38
Abnormal procollagen synthesis in fibroblasts from three patients of the same family with a severe form of osteogenesis imperfecta (type III). ( 3768427 )
1986
39
On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa. ( 3995789 )
1985
Sources

Variations for Osteogenesis Imperfecta, Type Iii

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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 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A2 NM_000089.3(COL1A2): c.1971+1G> A single nucleotide variant Pathogenic rs72658151 GRCh37 Chromosome 7, 94047144: 94047144
2 COL1A2 NM_000089.3(COL1A2): c.1971+1G> A single nucleotide variant Pathogenic rs72658151 GRCh38 Chromosome 7, 94417832: 94417832
3 COL1A2 NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs768171831 GRCh37 Chromosome 7, 94055323: 94055323
4 COL1A2 NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs768171831 GRCh38 Chromosome 7, 94426011: 94426011
5 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh38 Chromosome 7, 94426459: 94426459
6 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh37 Chromosome 7, 94055771: 94055771
7 COL1A2 NM_000089.3(COL1A2): c.4001_4004delATAA (p.Asn1334Serfs) deletion Pathogenic rs72659345 GRCh37 Chromosome 7, 94059605: 94059608
8 COL1A2 NM_000089.3(COL1A2): c.4001_4004delATAA (p.Asn1334Serfs) deletion Pathogenic rs72659345 GRCh38 Chromosome 7, 94430293: 94430296
9 COL1A2 NM_000089.3(COL1A2): c.775G> T (p.Gly259Cys) single nucleotide variant Pathogenic rs121912905 GRCh37 Chromosome 7, 94038118: 94038118
10 COL1A2 NM_000089.3(COL1A2): c.775G> T (p.Gly259Cys) single nucleotide variant Pathogenic rs121912905 GRCh38 Chromosome 7, 94408806: 94408806
11 COL1A2 NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val) single nucleotide variant Pathogenic rs121912907 GRCh37 Chromosome 7, 94044575: 94044575
12 COL1A2 NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val) single nucleotide variant Pathogenic rs121912907 GRCh38 Chromosome 7, 94415263: 94415263
13 COL1A2 COL1A2, VAL255DEL deletion Pathogenic
14 COL1A2 NM_000089.3(COL1A2): c.2575G> A (p.Gly859Ser) single nucleotide variant Pathogenic rs72658200 GRCh37 Chromosome 7, 94053657: 94053657
15 COL1A2 NM_000089.3(COL1A2): c.2575G> A (p.Gly859Ser) single nucleotide variant Pathogenic rs72658200 GRCh38 Chromosome 7, 94424345: 94424345
16 COL1A2 NM_000089.3(COL1A2): c.3017G> C (p.Gly1006Ala) single nucleotide variant Pathogenic rs121912911 GRCh37 Chromosome 7, 94055754: 94055754
17 COL1A2 NM_000089.3(COL1A2): c.3017G> C (p.Gly1006Ala) single nucleotide variant Pathogenic rs121912911 GRCh38 Chromosome 7, 94426442: 94426442
18 COL1A2 NM_000089.3(COL1A2): c.2251G> A (p.Gly751Ser) single nucleotide variant Pathogenic rs72658176 GRCh37 Chromosome 7, 94049916: 94049916
19 COL1A2 NM_000089.3(COL1A2): c.2251G> A (p.Gly751Ser) single nucleotide variant Pathogenic rs72658176 GRCh38 Chromosome 7, 94420604: 94420604
20 COL1A2 NM_000089.3(COL1A2): c.1099G> T (p.Gly367Trp) single nucleotide variant Pathogenic rs72656402 GRCh37 Chromosome 7, 94039741: 94039741
21 COL1A2 NM_000089.3(COL1A2): c.1099G> T (p.Gly367Trp) single nucleotide variant Pathogenic rs72656402 GRCh38 Chromosome 7, 94410429: 94410429
22 COL1A2 NM_000089.3(COL1A2): c.3269G> A (p.Gly1090Asp) single nucleotide variant Pathogenic rs267606742 GRCh37 Chromosome 7, 94056940: 94056940
23 COL1A2 NM_000089.3(COL1A2): c.3269G> A (p.Gly1090Asp) single nucleotide variant Pathogenic rs267606742 GRCh38 Chromosome 7, 94427628: 94427628
24 COL1A2 NM_000089.3(COL1A2): c.3295G> A (p.Gly1099Arg) single nucleotide variant Pathogenic rs72659338 GRCh37 Chromosome 7, 94056966: 94056966
25 COL1A2 NM_000089.3(COL1A2): c.3295G> A (p.Gly1099Arg) single nucleotide variant Pathogenic rs72659338 GRCh38 Chromosome 7, 94427654: 94427654
26 COL1A1 NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys) single nucleotide variant Pathogenic rs67368147 GRCh37 Chromosome 17, 48269166: 48269166
27 COL1A1 NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys) single nucleotide variant Pathogenic rs67368147 GRCh38 Chromosome 17, 50191805: 50191805
28 COL1A1 NM_000088.3(COL1A1): c.3064G> A (p.Gly1022Ser) single nucleotide variant Pathogenic rs66523073 GRCh37 Chromosome 17, 48266138: 48266138
29 COL1A1 NM_000088.3(COL1A1): c.3064G> A (p.Gly1022Ser) single nucleotide variant Pathogenic rs66523073 GRCh38 Chromosome 17, 50188777: 50188777
30 COL1A1 COL1A1, EX22DEL deletion Pathogenic
31 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh37 Chromosome 17, 48273524: 48273524
32 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh38 Chromosome 17, 50196163: 50196163
33 COL1A1 NM_000088.3(COL1A1): c.1588G> A (p.Gly530Ser) single nucleotide variant Pathogenic rs67682641 GRCh37 Chromosome 17, 48271736: 48271736
34 COL1A1 NM_000088.3(COL1A1): c.1588G> A (p.Gly530Ser) single nucleotide variant Pathogenic rs67682641 GRCh38 Chromosome 17, 50194375: 50194375
35 COL1A1 NM_000088.3(COL1A1): c.3118G> A (p.Gly1040Ser) single nucleotide variant Pathogenic rs72653178 GRCh37 Chromosome 17, 48265980: 48265980
36 COL1A1 NM_000088.3(COL1A1): c.3118G> A (p.Gly1040Ser) single nucleotide variant Pathogenic rs72653178 GRCh38 Chromosome 17, 50188619: 50188619
37 COL1A1 NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser) single nucleotide variant Pathogenic rs72653131 GRCh37 Chromosome 17, 48267406: 48267406
38 COL1A1 NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser) single nucleotide variant Pathogenic rs72653131 GRCh38 Chromosome 17, 50190045: 50190045
39 COL1A1 NM_000088.3(COL1A1): c.4391T> C (p.Leu1464Pro) single nucleotide variant Pathogenic rs72656353 GRCh37 Chromosome 17, 48262867: 48262867
40 COL1A1 NM_000088.3(COL1A1): c.4391T> C (p.Leu1464Pro) single nucleotide variant Pathogenic rs72656353 GRCh38 Chromosome 17, 50185506: 50185506
41 COL1A1 COL1A1, 562-BP DEL deletion Pathogenic
42 COL1A1 NM_000088.3(COL1A1): c.761G> A (p.Gly254Glu) single nucleotide variant Pathogenic rs72645320 GRCh37 Chromosome 17, 48274414: 48274414
43 COL1A1 NM_000088.3(COL1A1): c.761G> A (p.Gly254Glu) single nucleotide variant Pathogenic rs72645320 GRCh38 Chromosome 17, 50197053: 50197053
44 COL1A2 NM_000089.3(COL1A2): c.992G> A (p.Gly331Asp) single nucleotide variant Pathogenic rs67729041 GRCh37 Chromosome 7, 94039090: 94039090
45 COL1A2 NM_000089.3(COL1A2): c.992G> A (p.Gly331Asp) single nucleotide variant Pathogenic rs67729041 GRCh38 Chromosome 7, 94409778: 94409778
46 COL1A2 NM_000089.3(COL1A2): c.2918G> T (p.Gly973Val) single nucleotide variant Pathogenic rs67609234 GRCh37 Chromosome 7, 94055144: 94055144
47 COL1A2 NM_000089.3(COL1A2): c.1162G> C (p.Gly388Arg) single nucleotide variant Pathogenic rs1114167412 GRCh37 Chromosome 7, 94039804: 94039804
48 COL1A2 NM_000089.3(COL1A2): c.1162G> C (p.Gly388Arg) single nucleotide variant Pathogenic rs1114167412 GRCh38 Chromosome 7, 94410492: 94410492
49 COL1A2 NM_000089.3(COL1A2): c.1268G> A (p.Arg423His) single nucleotide variant Uncertain significance rs764780528 GRCh37 Chromosome 7, 94040384: 94040384
50 COL1A2 NM_000089.3(COL1A2): c.1268G> A (p.Arg423His) single nucleotide variant Uncertain significance rs764780528 GRCh38 Chromosome 7, 94411072: 94411072
Sources

Expression for Osteogenesis Imperfecta, Type Iii

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

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

# Super pathways Score Top Affiliating Genes
1
Collagen chain trimerization 67
Show member pathways
 12.28 BMP1 COL1A1 COL1A2 CRTAP P3H1 PLOD2
2
Degradation of the extracellular matrix 67
Show member pathways
 11.88 BMP1 COL1A1 COL1A2 CRTAP P3H1 PLOD2
3
Binding and Uptake of Ligands by Scavenger Receptors 67
Show member pathways
 11.56 CD36 COL1A1 COL1A2
4
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 62
11.14 CD36 COL1A1 COL1A2
5
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
10.92 BGLAP COL1A1 COL1A2
6
VEGFR3 signaling in lymphatic endothelium 1
10.77 COL1A1 COL1A2
7
Osteoblast Signaling 1
10.47 BGLAP COL1A1
Sources

GO Terms for Osteogenesis Imperfecta, Type Iii

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 BGLAP BMP1 COL1A1 COL1A2 IGFBP3 MCAM
2 endoplasmic reticulum GO:0005783 9.81 COL1A1 COL1A2 CREB3L1 CRTAP FKBP10 P3H1
3 collagen-containing extracellular matrix GO:0062023 9.71 COL1A1 COL1A2 SERPINF1 SERPINH1
4 extracellular space GO:0005615 9.7 BGLAP BMP1 CD36 COL1A1 COL1A2 CRTAP
5 collagen trimer GO:0005581 9.54 COL1A1 COL1A2 SERPINH1
6 endoplasmic reticulum lumen GO:0005788 9.32 BGLAP COL1A1 COL1A2 CRTAP FKBP10 IGFBP3
7 collagen type I trimer GO:0005584 9.26 COL1A1 COL1A2

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 ossification GO:0001503 9.67 BGLAP BMP1 COL1A1
2 skeletal system development GO:0001501 9.67 BGLAP BMP1 COL1A1 COL1A2
3 osteoblast differentiation GO:0001649 9.56 BGLAP COL1A1 CREB3L1 IGFBP3
4 negative regulation of cell-substrate adhesion GO:0010812 9.52 COL1A1 WNT1
5 collagen metabolic process GO:0032963 9.51 P3H1 PLOD2
6 chaperone-mediated protein folding GO:0061077 9.5 CRTAP P3H1 PPIB
7 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.48 IGFBP3 WNT1
8 protein heterotrimerization GO:0070208 9.46 COL1A1 COL1A2
9 collagen biosynthetic process GO:0032964 9.43 COL1A1 SERPINH1
10 skin morphogenesis GO:0043589 9.4 COL1A1 COL1A2
11 bone development GO:0060348 9.26 BGLAP P3H1 PPIB WNT1
12 negative regulation of post-translational protein modification GO:1901874 9.16 CRTAP P3H1
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

Sources for Osteogenesis Imperfecta, Type Iii

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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