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MCID: OST122
MIFTS: 58

Osteogenesis Imperfecta, Type Iii

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral 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 57 40
Osteogenesis Imperfecta Type Iii 12 53 75 29 6 73
Osteogenesis Imperfecta Type 3 12 59 15
Oi, Type Iii 57 75 55
Oi3 57 12 75
Progressive Deforming Osteogenesis Imperfecta 53 59
Severe Osteogenesis Imperfecta 53 59
Oi Type Iii 53 13
Oi Type 3 53 59
Osteogenesis Imperfecta, Progressively Deforming, with Normal Sclerae 57
Osteogenesis Imperfecta, Progressively Deforming with Normal Sclerae 53
Progressively Deforming Osteogenesis Imperfecta with Normal Sclerae 75
Progressively Deforming Osteogenesis Imperfecta with Normal Sclera 12
Progressively Deforming Oi 53
Osteogenesis Imperfecta 3 75
Imperfecta, Type Iii 57
Oi-Iii 75

Characteristics:

Orphanet epidemiological data:

59
osteogenesis imperfecta type 3
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
osteogenesis imperfecta, type iii:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM 57 259420
Disease Ontology 12 DOID:0110339
ICD10 33 Q78.0
Orphanet 59 ORPHA216812
UMLS via Orphanet 74 C0268362
ICD10 via Orphanet 34 Q78.0
MESH via Orphanet 45 C536044
MedGen 42 C0268362
MeSH 44 D010013
UMLS 73 C0268362
Sources

Summaries for Osteogenesis Imperfecta, Type Iii

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NIH Rare Diseases : 53 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 dentinogenesis imperfecta 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 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 : 75 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 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 37)
# Related Disease Score Top Affiliating Genes
1 dentinogenesis imperfecta 32.0 COL1A1 COL1A2 CRTAP FKBP10 P3H1
2 osteogenesis imperfecta, type viii 32.0 COL1A1 COL1A2 CRTAP P3H1
3 osteogenesis imperfecta, type v 31.4 CD36 COL1A1 COL1A2 FDPS
4 osteogenesis imperfecta, type iv 30.3 CD36 COL1A1 COL1A2 CRTAP FKBP10 PPIB
5 osteogenesis imperfecta, type vi 29.7 BMP1 COL1A1 CRTAP FKBP10 P3H1 PPIB
6 brittle bone disorder 28.4 BGLAP CD36 COL1A1 COL1A2 CRTAP FKBP10
7 dentinogenesis imperfecta type 3 11.3
8 amelogenesis imperfecta, type iiia 11.3
9 osteogenesis imperfecta, type xiii 11.0
10 osteogenesis imperfecta, type xiv 11.0
11 osteogenesis imperfecta, type xv 11.0
12 ehlers-danlos/osteogenesis imperfecta syndrome 10.8 COL1A1 COL1A2
13 larsen-like syndrome 10.7 COL1A1 COL1A2
14 scleroderma, familial progressive 10.5 CD36 COL1A1 COL1A2
15 osteogenesis imperfecta, type xi 10.5 CRTAP FKBP10
16 myxofibrosarcoma 10.5 CD36 CREB3L1
17 caffey disease 10.5 CD36 COL1A1 COL1A2
18 osteoporosis, juvenile 10.5 BGLAP COL1A1 WNT1
19 high bone mass osteogenesis imperfecta 10.5 BMP1 COL1A1 COL1A2
20 ehlers-danlos syndrome, classic type, 1 10.5 CD36 COL1A1 COL1A2
21 type i 10.4
22 osteogenesis imperfecta, type vii 10.3 CD36 COL1A1 COL1A2 CRTAP
23 fibromatosis, gingival, 1 10.3 CD36 SERPINH1
24 cervical incompetence 10.2 CRTAP P3H1 SERPINH1
25 otosclerosis 10.2 CD36 COL1A1 COL1A2 SERPINF1
26 dental fluorosis 10.1 BGLAP COL1A2
27 cerebellar hypoplasia 9.9
28 brachydactyly 9.9
29 arachnoiditis 9.9
30 arachnoid cysts 9.9
31 adult fibrosarcoma 9.9 COL1A1 FDPS
32 osteogenesis imperfecta, type ii 9.7 CD36 COL1A1 COL1A2 CRTAP P3H1 PPIB
33 bone development disease 9.7 COL1A1 COL1A2 CRTAP FKBP10 P3H1 PPIB
34 connective tissue disease 9.3 COL1A1 COL1A2 P3H1 PLOD2 PPIB SERPINH1
35 osteogenesis imperfecta, type i 8.8 BGLAP CD36 COL1A1 COL1A2 IGFBP3 PEPD
36 osteoporosis 8.7 BGLAP CD36 COL1A1 COL1A2 FDPS IGFBP3
37 bruck syndrome 7.6 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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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Osteogenesis Imperfecta, Type Iii:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 32 HP:0002007
2 scoliosis 32 HP:0002650
3 kyphosis 32 HP:0002808
4 hearing impairment 32 HP:0000365
5 micrognathia 32 HP:0000347
6 pulmonary arterial hypertension 32 HP:0002092
7 dentinogenesis imperfecta 32 HP:0000703
8 abnormality of the thorax 32 HP:0000765
9 wormian bones 32 HP:0002645
10 protrusio acetabuli 32 HP:0003179
11 platybasia 32 HP:0002691
12 abnormality of the nervous system 32 HP:0000707
13 recurrent fractures 32 HP:0002757
14 neonatal short-limb short stature 32 HP:0008921
15 wide anterior fontanel 32 HP:0000260
16 triangular face 32 HP:0000325
17 blue sclerae 32 HP:0000592
18 decreased calvarial ossification 32 HP:0005474
19 slender long bone 32 HP:0003100
20 biconcave vertebral bodies 32 HP:0004586
21 tibial bowing 32 HP:0002982
22 basilar impression 32 HP:0005758
23 bowing of limbs due to multiple fractures 32 HP:0003023
24 multiple prenatal fractures 32 HP:0005855
25 severe generalized osteoporosis 32 HP:0005897

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 BMP1 CD36 COL1A1 COL1A2 FKBP10 IGFBP3
2 growth/size/body region MP:0005378 10.1 CD36 COL1A1 COL1A2 CREB3L1 CRTAP FKBP10
3 hematopoietic system MP:0005397 9.96 BMP1 CD36 COL1A1 CREB3L1 FKBP10 MCAM
4 adipose tissue MP:0005375 9.88 BMP1 CD36 COL1A1 COL1A2 IGFBP3 P3H1
5 limbs/digits/tail MP:0005371 9.81 COL1A1 COL1A2 FKBP10 IGFBP3 NOTO 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 22)
# 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 Hormone Antagonists Phase 3
4 Hormones 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
Busulfan Approved, Investigational Phase 1 55-98-1 2478
9
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
10
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
11 Alkylating Agents Phase 1
12 Antifungal Agents Phase 1
13 Anti-Infective Agents Phase 1
14 Antineoplastic Agents, Alkylating Phase 1
15 Antirheumatic Agents Phase 1
16 Calcineurin Inhibitors Phase 1
17 Cyclosporins Phase 1
18 Dermatologic Agents Phase 1
19 Immunosuppressive Agents Phase 1
20 Antibodies Phase 1
21 Antibodies, Monoclonal Phase 1
22 Immunoglobulins Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3 Humatrope;Nutropin;GRH
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 Recruiting NCT03118570 Phase 2 BPS804;Placebo IV Infusion 5% Dextrose
6 Repeated Infusions of Mesenchymal Stromal Cells in Children With Osteogenesis Imperfecta Completed NCT01061099 Phase 1
7 Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation Completed NCT00705120 Phase 1 Cyclophosphamide;Cyclosporin;Busulfan
8 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 29 COL1A1 COL1A2
Sources

Anatomical Context for Osteogenesis Imperfecta, Type Iii

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

41
Bone, Eye, Bone Marrow, Skin, Colon
Sources

Publications for Osteogenesis Imperfecta, Type Iii

About this section

Articles related to Osteogenesis Imperfecta, Type Iii:

(show all 31)
# Title Authors Year
1
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
2
Osteogenesis imperfecta type III in SouthA Africa: Psychosocial challenges. ( 27245537 )
2016
3
Increased nuchal translucency and short femur length as possible early signs of osteogenesis imperfecta type III. ( 23741540 )
2013
4
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
5
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. ( 19208385 )
2009
6
New trends in the treatment of osteogenesis imperfecta type III - own experience. ( 19153548 )
2008
7
Severe cerebellar hypoplasia associated with osteogenesis imperfecta type III. ( 17719950 )
2007
8
Comparison of nanoindentation measurements between osteogenesis imperfecta Type III and Type IV and between different anatomic locations (femur/tibia versus iliac crest). ( 17453908 )
2007
9
Carcinoma of left colon presenting as mechanical obstruction in a patient with osteogenesis imperfecta type III. ( 17171434 )
2007
10
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
11
Safety enhancement of a specialized power assisted tricycle for a child with osteogenesis imperfecta type III. ( 15850131 )
2005
12
Treatment of poor linear growth in a patient with osteogenesis imperfecta type III. ( 15598484 )
2004
13
Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen. ( 12870654 )
2003
14
Calcium kinetics in children with osteogenesis imperfecta type III and IV: pre- and post-growth hormone therapy. ( 10920211 )
2000
15
Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV. ( 10511119 )
1999
16
Histopathologic and electron-microscopic features of corneal and scleral collagen fibers in osteogenesis imperfecta type III. ( 9248835 )
1997
17
Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. ( 9240878 )
1997
18
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
19
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. ( 7860070 )
1995
20
Type 1 collagen synthesis by skin fibroblasts from 17 patients with osteogenesis imperfecta type III. ( 8747514 )
1995
21
A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. ( 7749416 )
1995
22
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
23
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
24
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. ( 8100856 )
1993
25
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. ( 8444468 )
1993
26
Collagen studies in an osteogenesis imperfecta type III family. ( 3214053 )
1988
27
Prenatal diagnosis of osteogenesis imperfecta type III. ( 3547385 )
1987
28
Osteogenesis imperfecta type III: an ancient mutation in Africa? ( 3425600 )
1987
29
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. ( 3953678 )
1986
30
Abnormal procollagen synthesis in fibroblasts from three patients of the same family with a severe form of osteogenesis imperfecta (type III). ( 3768427 )
1986
31
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:

75 (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 84)
# 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.3118G> A (p.Gly1040Ser) single nucleotide variant Pathogenic rs72653178 GRCh37 Chromosome 17, 48265980: 48265980
30 COL1A1 NM_000088.3(COL1A1): c.3118G> A (p.Gly1040Ser) single nucleotide variant Pathogenic rs72653178 GRCh38 Chromosome 17, 50188619: 50188619
31 COL1A1 NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser) single nucleotide variant Pathogenic rs72653131 GRCh37 Chromosome 17, 48267406: 48267406
32 COL1A1 NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser) single nucleotide variant Pathogenic rs72653131 GRCh38 Chromosome 17, 50190045: 50190045
33 COL1A1 NM_000088.3(COL1A1): c.4391T> C (p.Leu1464Pro) single nucleotide variant Pathogenic rs72656353 GRCh37 Chromosome 17, 48262867: 48262867
34 COL1A1 NM_000088.3(COL1A1): c.4391T> C (p.Leu1464Pro) single nucleotide variant Pathogenic rs72656353 GRCh38 Chromosome 17, 50185506: 50185506
35 COL1A1 COL1A1, 562-BP DEL deletion Pathogenic
36 COL1A1 NM_000088.3(COL1A1): c.761G> A (p.Gly254Glu) single nucleotide variant Pathogenic rs72645320 GRCh37 Chromosome 17, 48274414: 48274414
37 COL1A1 NM_000088.3(COL1A1): c.761G> A (p.Gly254Glu) single nucleotide variant Pathogenic rs72645320 GRCh38 Chromosome 17, 50197053: 50197053
38 COL1A1 NM_000088.3(COL1A1): c.959G> A (p.Gly320Asp) single nucleotide variant Likely pathogenic rs72645353 GRCh37 Chromosome 17, 48273559: 48273559
39 COL1A1 NM_000088.3(COL1A1): c.959G> A (p.Gly320Asp) single nucleotide variant Likely pathogenic rs72645353 GRCh38 Chromosome 17, 50196198: 50196198
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.2099G> A (p.Gly700Asp) single nucleotide variant Pathogenic rs72658161 GRCh37 Chromosome 7, 94049564: 94049564
43 COL1A2 NM_000089.3(COL1A2): c.2099G> A (p.Gly700Asp) single nucleotide variant Pathogenic rs72658161 GRCh38 Chromosome 7, 94420252: 94420252
44 COL1A2 NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs768171831 GRCh37 Chromosome 7, 94055323: 94055323
45 COL1A2 NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs768171831 GRCh38 Chromosome 7, 94426011: 94426011
46 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh38 Chromosome 7, 94426459: 94426459
47 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh37 Chromosome 7, 94055771: 94055771
48 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
49 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh38 Chromosome 17, 50198505: 50198505
50 COL1A2 NM_000089.3(COL1A2): c.1550G> A (p.Gly517Asp) single nucleotide variant Pathogenic rs1057516053 GRCh37 Chromosome 7, 94042441: 94042441
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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 66
Show member pathways
 12.28 BMP1 COL1A1 COL1A2 CRTAP P3H1 PLOD2
2
Degradation of the extracellular matrix 66
Show member pathways
 11.88 BMP1 COL1A1 COL1A2 CRTAP P3H1 PLOD2
3
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.56 CD36 COL1A1 COL1A2
4
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 61
11.14 CD36 COL1A1 COL1A2
5
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
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 endoplasmic reticulum GO:0005783 9.81 COL1A1 COL1A2 CREB3L1 CRTAP FKBP10 P3H1
2 extracellular space GO:0005615 9.7 BGLAP BMP1 CD36 COL1A1 COL1A2 CRTAP
3 collagen trimer GO:0005581 9.56 CD36 COL1A1 COL1A2 SERPINH1
4 collagen type I trimer GO:0005584 9.32 COL1A1 COL1A2
5 endoplasmic reticulum lumen GO:0005788 9.32 BGLAP COL1A1 COL1A2 CRTAP FKBP10 IGFBP3
6 extracellular region GO:0005576 10.07 BGLAP BMP1 COL1A1 COL1A2 CRTAP IGFBP3
7 extracellular exosome GO:0070062 10.06 COL1A2 IGFBP3 P3H1 PEPD PLOD2 PPIB

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 9.69 BGLAP BMP1 COL1A1
2 skeletal system development GO:0001501 9.67 BGLAP BMP1 COL1A1 COL1A2
3 collagen catabolic process GO:0030574 9.58 COL1A1 COL1A2 PEPD
4 osteoblast differentiation GO:0001649 9.56 BGLAP COL1A1 CREB3L1 IGFBP3
5 negative regulation of cell-substrate adhesion GO:0010812 9.52 COL1A1 WNT1
6 collagen fibril organization GO:0030199 9.5 COL1A1 COL1A2 SERPINH1
7 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.49 IGFBP3 WNT1
8 protein heterotrimerization GO:0070208 9.48 COL1A1 COL1A2
9 skin morphogenesis GO:0043589 9.46 COL1A1 COL1A2
10 collagen biosynthetic process GO:0032964 9.43 COL1A1 SERPINH1
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 chaperone-mediated protein folding GO:0061077 8.92 CRTAP FKBP10 P3H1 PPIB

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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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