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OI3
MCID: OST122
MIFTS: 57

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 56 39
Osteogenesis Imperfecta Type Iii 12 52 73 29 6 71
Osteogenesis Imperfecta Type 3 12 58 15
Oi, Type Iii 56 73 54
Oi3 56 12 73
Progressive Deforming Osteogenesis Imperfecta 52 58
Severe Osteogenesis Imperfecta 52 58
Oi Type Iii 52 13
Oi Type 3 52 58
Osteogenesis Imperfecta, Progressively Deforming, with Normal Sclerae 56
Osteogenesis Imperfecta, Progressively Deforming with Normal Sclerae 52
Progressively Deforming Osteogenesis Imperfecta with Normal Sclerae 73
Progressively Deforming Osteogenesis Imperfecta with Normal Sclera 12
Progressively Deforming Oi 52
Osteogenesis Imperfecta 3 73
Oi-Iii 73

Characteristics:

Orphanet epidemiological data:

58
osteogenesis imperfecta type 3
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
osteogenesis imperfecta, type iii:
Inheritance autosomal dominant inheritance autosomal recessive 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: 32 33
Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0110339
OMIM 56 259420
OMIM Phenotypic Series 56 PS166200
MeSH 43 D010013
ICD10 32 Q78.0
MESH via Orphanet 44 C536044
ICD10 via Orphanet 33 Q78.0
UMLS via Orphanet 72 C0268362
Orphanet 58 ORPHA216812
MedGen 41 C0268362
UMLS 71 C0268362
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Summaries for Osteogenesis Imperfecta, Type Iii

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NIH Rare Diseases : 52 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 liver, and related phenotypes are hearing impairment 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 : 73 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.

More information from OMIM: 259420 PS166200
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Related Diseases for Osteogenesis Imperfecta, Type Iii

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Diseases in the Osteogenesis Imperfecta, Type Iii family:

Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta, Type Ii
Osteogenesis Imperfecta, Type Iv 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
Osteogenesis Imperfecta, Type Xx

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

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type vi 32.8 SERPINF1 COL1A2 COL1A1
2 osteogenesis imperfecta, type v 32.6 OSBP2 COL1A2 COL1A1 CD36
3 osteogenesis imperfecta, type iv 31.7 WNT1 SERPINF1 PPIB P3H1 OSBP2 FKBP10
4 col1a1/2 osteogenesis imperfecta 31.3 COL1A2 COL1A1
5 osteogenesis imperfecta, type viii 31.0 P3H1 OSBP2 CRTAP
6 bone resorption disease 30.9 COL1A2 COL1A1 BGLAP
7 ehlers-danlos syndrome 30.8 COL5A2 COL1A2 COL1A1 CD36
8 osteogenesis imperfecta, type i 30.7 CRTAP COL1A2 COL1A1 CD36 BGLAP
9 brittle bone disorder 30.5 WNT1 SERPINH1 SERPINF1 PPIB P3H1 FKBP10
10 osteogenesis imperfecta, type ii 30.2 PPIB P3H1 FKBP10 CRTAP COL5A2 COL1A2
11 dentinogenesis imperfecta 29.9 SERPINH1 SERPINF1 PPIB P3H1 FKBP10 CRTAP
12 osteogenesis imperfecta, type xiii 11.4
13 osteogenesis imperfecta, type xiv 11.4
14 osteogenesis imperfecta, type xv 11.4
15 ehlers-danlos/osteogenesis imperfecta syndrome 10.6 COL1A2 COL1A1
16 ehlers-danlos syndrome, arthrochalasia type, 2 10.6 COL1A2 COL1A1
17 type i ehlers-danlos syndrome 10.6 COL1A2 COL1A1
18 osteogenesis imperfecta, type vii 10.6 CRTAP CD36
19 high bone mass osteogenesis imperfecta 10.6 COL1A2 COL1A1 BMP1
20 larsen-like syndrome 10.5 COL5A2 COL1A2 COL1A1
21 scleroderma, familial progressive 10.5 COL1A2 COL1A1 CD36
22 classic ehlers-danlos syndrome 10.5 COL5A2 COL1A2 COL1A1
23 arthrochalasia ehlers-danlos syndrome 10.5 COL1A2 COL1A1
24 ehlers-danlos syndrome, classic type, 1 10.5 COL5A2 COL1A2 COL1A1
25 ehlers-danlos syndrome, classic type, 2 10.5 COL5A2 CD36
26 keloid disorder 10.5 SERPINH1 CD36
27 caffey disease 10.5 COL1A2 COL1A1 CD36
28 syndromic x-linked intellectual disability cabezas type 10.5 COL1A2 COL1A1
29 myositis ossificans 10.5 COL1A1 BMP1 BGLAP
30 spinal stenosis 10.5 COL1A2 COL1A1 COL11A1
31 collagen disease 10.5 COL5A2 COL1A2 COL1A1
32 fibromatosis, gingival, 1 10.5 SERPINH1 CD36
33 pelvic organ prolapse 10.5 COL1A2 COL1A1 CD36
34 van buchem disease 10.5 WNT1 COL1A1 BGLAP
35 diffuse scleroderma 10.4 COL1A2 COL1A1
36 endosteal hyperostosis, autosomal dominant 10.4 CRTAP COL1A2 COL1A1
37 fibrogenesis imperfecta ossium 10.4 SERPINF1 P3H1 CRTAP COL1A2
38 stickler syndrome 10.4 COL5A2 COL1A2 COL1A1 COL11A1
39 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.4 CREB3L1 COL5A2 COL11A1
40 bone remodeling disease 10.4 COL1A2 COL1A1 BGLAP
41 telecanthus 10.4 COL5A2 COL11A1
42 osteogenesis imperfecta, type x 10.4 SERPINH1 OSBP2
43 otosclerosis 10.4 SERPINF1 COL1A2 COL1A1 CD36
44 orthostatic intolerance 10.4 COL5A2 COL1A2 COL1A1
45 marfan syndrome 10.4 COL5A2 COL1A2 COL1A1 CD36
46 phenylketonuria 10.4 COL1A2 COL1A1 BGLAP
47 osteogenesis imperfecta, type xii 10.4 SERPINF1 FKBP10
48 boomerang dysplasia 10.4 P3H1 CRTAP
49 osteoporosis, juvenile 10.3 WNT1 COL1A2 COL1A1 CD36 BGLAP
50 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.3 COL5A2 COL11A1

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:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 scoliosis 31 HP:0002650
3 kyphosis 31 HP:0002808
4 frontal bossing 31 HP:0002007
5 pulmonary arterial hypertension 31 HP:0002092
6 micrognathia 31 HP:0000347
7 slender long bone 31 HP:0003100
8 protrusio acetabuli 31 HP:0003179
9 recurrent fractures 31 HP:0002757
10 abnormality of the thorax 31 HP:0000765
11 platybasia 31 HP:0002691
12 abnormality of the nervous system 31 HP:0000707
13 wormian bones 31 HP:0002645
14 blue sclerae 31 HP:0000592
15 neonatal short-limb short stature 31 HP:0008921
16 triangular face 31 HP:0000325
17 wide anterior fontanel 31 HP:0000260
18 decreased calvarial ossification 31 HP:0005474
19 dentinogenesis imperfecta 31 HP:0000703
20 biconcave vertebral bodies 31 HP:0004586
21 tibial bowing 31 HP:0002982
22 basilar impression 31 HP:0005758
23 multiple prenatal fractures 31 HP:0005855
24 bowing of limbs due to multiple fractures 31 HP:0003023
25 severe generalized osteoporosis 31 HP:0005897

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis
codfish vertebrae

Skeletal Pelvis:
protrusio acetabuli

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

Head And Neck Face:
frontal bossing
micrognathia
triangular face

Skeletal Skull:
wormian bones
large anterior fontanelle
undermineralized calvarium

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 BMP1 CD36 COL11A1 COL1A1 COL1A2 COL5A2
2 cardiovascular system MP:0005385 10.07 BMP1 CD36 COL1A1 COL1A2 COL5A2 FKBP10
3 adipose tissue MP:0005375 9.95 BGLAP BMP1 CD36 COL1A1 COL1A2 KCTD1
4 craniofacial MP:0005382 9.87 BMP1 COL11A1 COL1A1 FKBP10 PPIB SERPINH1
5 limbs/digits/tail MP:0005371 9.76 BMP1 COL11A1 COL1A1 COL1A2 FKBP10 P3H1
6 skeleton MP:0005390 9.53 BGLAP BMP1 CD36 COL11A1 COL1A1 COL1A2
7 muscle MP:0005369 9.5 BMP1 CD36 COL1A1 COL1A2 P3H1 SLC34A1
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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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zoledronic Acid Approved Phase 3 118072-93-8 68740
2
Pamidronate Approved Phase 3 40391-99-9 4674
3 Diphosphonates Phase 3
4 Hormones Phase 3
5 Liver Extracts Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An International, Multicenter, Open-label, 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
2 A Trial of Pamidronate in Children With Osteogenesis Imperfecta Completed NCT00005901 Phase 3 Pamidronate (Aredia)
3 Studies of Growth Deficiency and Growth Hormone Treatment in Children With Osteogenesis Imperfecta Types III and IV Completed NCT00001305 Phase 3 Humatrope
4 Efficacy and Safety of Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
5 An Exploratory, Open Label, Multiple Dose, Multicentre Phase I/II Trial Evaluating Safety and Efficacy of Postnatal or Prenatal and Postnatal Intravenous Administration of Allogeneic Expanded Fetal Mesenchymal Stem Cells for the Treatment of Severe Osteogenesis Imperfecta Compared With a Combination of Historical and Untreated Prospective Controls Recruiting NCT03706482 Phase 1, Phase 2
6 Multicenter Study to Evaluate Safety of Fresolimumab in Adults With Moderate-to-severe Osteogenesis Imperfecta Recruiting NCT03064074 Phase 1 Fresolimumab
7 Dental Malocclusion and Craniofacial Development in OI Active, not recruiting NCT02934451

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
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Anatomical Context for Osteogenesis Imperfecta, Type Iii

About this section

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

40
Bone, Eye, Liver, Skin, Colon
Sources

Publications for Osteogenesis Imperfecta, Type Iii

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Articles related to Osteogenesis Imperfecta, Type Iii:

(show top 50) (show all 120)
# Title Authors PMID Year
1
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. 61 54 6 56
19208385 2009
2
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. 6 56 54 61
8444468 1993
3
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. 56 6 61
8728690 1996
4
On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa. 61 56 6
3995789 1985
5
High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. 56 6
15024692 2004
6
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. 56 6
11286507 2001
7
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 6 56
2037280 1991
8
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. 56 6
2794057 1989
9
A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. 61 54 6
7749416 1995
10
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. 6 54 61
8081394 1994
11
Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation. 6 54
10807697 2000
12
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. 54 6
8723681 1996
13
Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1). 54 6
7789952 1995
14
Osteogenesis imperfecta type III: an ancient mutation in Africa? 56 61
3425600 1987
15
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. 61 56
3953678 1986
16
Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. 56
26426884 2016
17
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 6
19358256 2009
18
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 6
18996919 2009
19
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. 6
18311573 2008
20
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 6
17078022 2007
21
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 6
16879195 2006
22
Genetic evaluation of suspected osteogenesis imperfecta (OI). 56
16778601 2006
23
Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. 56
16434452 2006
24
COL1A1/2 Osteogenesis Imperfecta 6
20301472 2005
25
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 6
15241796 2004
26
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 6
15024745 2004
27
Gene targeting in stem cells from individuals with osteogenesis imperfecta. 56
14976317 2004
28
Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV. 56
12728084 2003
29
Osteogenesis imperfecta types I, III, and IV: effect of pamidronate therapy on bone and mineral metabolism. 56
12629073 2003
30
Modeling the benefits of pamidronate in children with osteogenesis imperfecta. 56
12417561 2002
31
The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta. 56
12417568 2002
32
Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta. 56
11970931 2002
33
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 6
11317364 2001
34
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 6
11113887 2000
35
Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. 56
10843163 2000
36
Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes. 56
9099837 1997
37
(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta? 6
9143923 1997
38
Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta. 6
8910493 1996
39
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. 6
8786074 1996
40
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. 6
8669434 1996
41
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. 6
7881420 1994
42
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 6
7942841 1994
43
Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. 6
8456809 1993
44
Dominant mutations in familial lethal and severe osteogenesis imperfecta. 56
1864604 1991
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. 6
2064612 1991
46
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. 6
2511192 1989
47
Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis. 56
3402997 1988
48
Organization of the human pro-alpha 2(I) collagen gene. 6
2824475 1987
49
Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I. 6
3023615 1986
50
The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains. 6
3722186 1986
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Variations for Osteogenesis Imperfecta, Type Iii

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ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Iii:

6 (show top 50) (show all 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL1A2 NM_000089.3(COL1A2):c.992G>A (p.Gly331Asp)SNV Pathogenic 425664 rs67729041 7:94039090-94039090 7:94409778-94409778
2 COL1A2 NM_000089.3(COL1A2):c.1009G>A (p.Gly337Ser)SNV Pathogenic 425643 rs67865220 7:94039107-94039107 7:94409795-94409795
3 COL1A2 NM_000089.3(COL1A2):c.1162G>C (p.Gly388Arg)SNV Pathogenic 425644 rs1114167412 7:94039804-94039804 7:94410492-94410492
4 COL1A2 NM_000089.3(COL1A2):c.1937G>T (p.Gly646Val)SNV Pathogenic 425650 rs72658150 7:94047109-94047109 7:94417797-94417797
5 COL1A2 NM_000089.3(COL1A2):c.2918G>T (p.Gly973Val)SNV Pathogenic 425654 rs67609234 7:94055144-94055144 7:94425832-94425832
6 COL1A2 NM_000089.3(COL1A2):c.3008G>A (p.Gly1003Asp)SNV Pathogenic 425655 rs1114167414 7:94055745-94055745 7:94426433-94426433
7 COL1A2 NM_000089.3(COL1A2):c.3089G>C (p.Gly1030Ala)SNV Pathogenic 425656 rs1114167415 7:94055826-94055826 7:94426514-94426514
8 COL1A1 NM_000088.3(COL1A1):c.3226G>A (p.Gly1076Ser)SNV Pathogenic 425618 rs67394386 17:48265492-48265492 17:50188131-50188131
9 COL1A1 NM_000088.3(COL1A1):c.2596G>A (p.Gly866Ser)SNV Pathogenic 425612 rs67445413 17:48267237-48267237 17:50189876-50189876
10 COL1A1 NM_000088.3(COL1A1):c.2235+1G>ASNV Pathogenic 425607 rs1114167390 17:48268743-48268743 17:50191382-50191382
11 COL1A1 NM_000088.3(COL1A1):c.2155G>A (p.Gly719Ser)SNV Pathogenic 425606 rs72651645 17:48268824-48268824 17:50191463-50191463
12 COL1A1 NM_000088.3(COL1A1):c.2075G>C (p.Gly692Ala)SNV Pathogenic 425604 rs1114167388 17:48269201-48269201 17:50191840-50191840
13 COL1A1 NM_000088.3(COL1A1):c.1821+1G>ASNV Pathogenic 425580 rs66555264 17:48270354-48270354 17:50192993-50192993
14 COL1A1 NM_000088.3(COL1A1):c.1299+1G>ASNV Pathogenic 425599 rs66490707 17:48272592-48272592 17:50195231-50195231
15 COL1A1 NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter)SNV Pathogenic 425597 rs72648326 17:48272649-48272649 17:50195288-50195288
16 COL1A1 NM_000088.3(COL1A1):c.65_70del (p.Gly22_Gln23del)deletion Pathogenic 425636 rs1114167409 17:48278805-48278810 17:50201444-50201449
17 COL1A2 LRG_2t1:c.(?_-471)_(738+1_739-1)deldeletion Pathogenic 425665
18 COL1A1 NM_000088.3(COL1A1):c.3443G>A (p.Gly1148Asp)SNV Pathogenic 431028 rs1131692320 17:48264464-48264464 17:50187103-50187103
19 COL1A1 NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser)SNV Pathogenic 447141 rs67879854 17:48267939-48267939 17:50190578-50190578
20 COL1A2 NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser)SNV Pathogenic 456848 rs66612022 7:94039080-94039080 7:94409768-94409768
21 COL1A2 NM_000089.3(COL1A2):c.1127G>T (p.Gly376Val)SNV Pathogenic 579070 rs67543427 7:94039769-94039769 7:94410457-94410457
22 COL1A2 NM_000089.3(COL1A2):c.4001_4004deldeletion Pathogenic 17236 rs72659345 7:94059603-94059606 7:94430291-94430294
23 COL1A2 NM_000089.3(COL1A2):c.775G>T (p.Gly259Cys)SNV Pathogenic 17247 rs121912905 7:94038118-94038118 7:94408806-94408806
24 COL1A2 NM_000089.3(COL1A2):c.1757G>T (p.Gly586Val)SNV Pathogenic 17253 rs121912907 7:94044575-94044575 7:94415263-94415263
25 COL1A2 COL1A2, VAL255DELdeletion Pathogenic 17259
26 COL1A2 NM_000089.3(COL1A2):c.2575G>A (p.Gly859Ser)SNV Pathogenic 17261 rs72658200 7:94053657-94053657 7:94424345-94424345
27 COL1A2 NM_000089.3(COL1A2):c.3017G>C (p.Gly1006Ala)SNV Pathogenic 17265 rs121912911 7:94055754-94055754 7:94426442-94426442
28 COL1A2 NM_000089.3(COL1A2):c.2251G>A (p.Gly751Ser)SNV Pathogenic 17267 rs72658176 7:94049916-94049916 7:94420604-94420604
29 COL1A2 NM_000089.3(COL1A2):c.1099G>T (p.Gly367Trp)SNV Pathogenic 17272 rs72656402 7:94039741-94039741 7:94410429-94410429
30 COL1A2 NM_000089.3(COL1A2):c.3269G>A (p.Gly1090Asp)SNV Pathogenic 17282 rs267606742 7:94056940-94056940 7:94427628-94427628
31 COL1A2 NM_000089.3(COL1A2):c.3295G>A (p.Gly1099Arg)SNV Pathogenic 17283 rs72659338 7:94056966-94056966 7:94427654-94427654
32 COL1A1 NM_000088.3(COL1A1):c.2110G>T (p.Gly704Cys)SNV Pathogenic 17288 rs67368147 17:48269166-48269166 17:50191805-50191805
33 COL1A1 NM_000088.3(COL1A1):c.3064G>A (p.Gly1022Ser)SNV Pathogenic 17296 rs66523073 17:48266138-48266138 17:50188777-50188777
34 COL1A1 COL1A1, EX22DELdeletion Pathogenic 17303
35 COL1A1 NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg)SNV Pathogenic 17312 rs72645357 17:48273524-48273524 17:50196163-50196163
36 COL1A1 NM_000088.3(COL1A1):c.1588G>A (p.Gly530Ser)SNV Pathogenic 17324 rs67682641 17:48271736-48271736 17:50194375-50194375
37 COL1A1 NM_000088.3(COL1A1):c.3118G>A (p.Gly1040Ser)SNV Pathogenic 17330 rs72653178 17:48265980-48265980 17:50188619-50188619
38 COL1A1 NM_000088.3(COL1A1):c.2515G>A (p.Gly839Ser)SNV Pathogenic 17331 rs72653131 17:48267406-48267406 17:50190045-50190045
39 COL1A1 NM_000088.3(COL1A1):c.4391T>C (p.Leu1464Pro)SNV Pathogenic 17332 rs72656353 17:48262867-48262867 17:50185506-50185506
40 COL1A1 COL1A1, 562-BP DELdeletion Pathogenic 17336
41 COL1A1 NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys)SNV Pathogenic 17347 rs72653170 17:48266269-48266269 17:50188908-50188908
42 COL1A1 NM_000088.3(COL1A1):c.761G>A (p.Gly254Glu)SNV Pathogenic 17349 rs72645320 17:48274414-48274414 17:50197053-50197053
43 COL1A1 NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter)SNV Pathogenic 287320 rs72651642 17:48269187-48269187 17:50191826-50191826
44 COL1A2 NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)SNV Pathogenic/Likely pathogenic 216908 rs72659319 7:94055771-94055771 7:94426459-94426459
45 COL1A1 NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg)SNV Pathogenic/Likely pathogenic 450546 rs1555574303 17:48273533-48273533 17:50196172-50196172
46 COL1A2 NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg)SNV Pathogenic/Likely pathogenic 644457 7:94040458-94040458 7:94411146-94411146
47 P3H1 NM_022356.4(P3H1):c.2131dup (p.Leu711fs)duplication Likely pathogenic 684744 1:43212447-43212448 1:42746776-42746777
48 P3H1 NM_022356.4(P3H1):c.1980dup (p.Val661fs)duplication Likely pathogenic 684745 1:43213017-43213018 1:42747346-42747347
49 SLC34A1 NM_003052.5(SLC34A1):c.156_175delinsA (p.Gly53fs)indel Likely pathogenic 684754 5:176813034-176813053 5:177386033-177386052
50 COL1A2 NM_000089.3(COL1A2):c.1235G>T (p.Gly412Val)SNV Likely pathogenic 520400 rs1554396283 7:94040238-94040238 7:94410926-94410926

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

73 (show all 41)
# Symbol AA change Variation ID SNP ID
1 COL1A1 p.Gly332Arg VAR_001650 rs72645357
2 COL1A1 p.Gly350Arg VAR_001651 rs72645363
3 COL1A1 p.Gly530Ser VAR_001666 rs67682641
4 COL1A1 p.Gly593Cys VAR_001673 rs66527965
5 COL1A1 p.Gly593Ser VAR_001674 rs66527965
6 COL1A1 p.Gly704Cys VAR_001678 rs67368147
7 COL1A1 p.Gly719Ser VAR_001680 rs72651645
8 COL1A1 p.Gly767Ser VAR_001686 rs72651658
9 COL1A1 p.Gly821Ser VAR_001690 rs67693970
10 COL1A1 p.Gly884Ser VAR_001697
11 COL1A1 p.Gly1022Ser VAR_001702 rs66523073
12 COL1A1 p.Gly1040Ser VAR_001705 rs72653178
13 COL1A1 p.Gly1049Ser VAR_001708 rs67641695
14 COL1A1 p.Gly1058Ser VAR_001709 rs72654795
15 COL1A1 p.Gly1076Ser VAR_001713 rs67394386
16 COL1A1 p.Gly1151Ser VAR_001722 rs72656320
17 COL1A1 p.Gly1187Ser VAR_001729 rs72656332
18 COL1A1 p.Leu1464Pro VAR_001737 rs72656353
19 COL1A1 p.Gly866Ser VAR_008118 rs67445413
20 COL1A1 p.Gly203Val VAR_063295 rs72667031
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

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 65
Show member pathways
 12.33 SERPINH1 PPIB P3H1 CRTAP COL5A2 COL1A2
2
Degradation of the extracellular matrix 65
Show member pathways
 11.93 SERPINH1 PPIB P3H1 CRTAP COL5A2 COL1A2
3
Parathyroid hormone synthesis, secretion and action 36
11.63 SLC34A1 CREB3L1 BGLAP
4
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.6 COL1A2 COL1A1 CD36
5
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.14 COL1A2 COL1A1 CD36
6
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
10.92 COL1A2 COL1A1 BGLAP
7
VEGFR3 signaling in lymphatic endothelium 1
10.82 COL1A2 COL1A1
8
G-protein signaling_Rap2B regulation pathway 22
10.62 COL5A2 COL1A2 COL1A1 COL11A1 BMP1
9
Osteoblast Signaling 1
10.51 COL1A1 BGLAP
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 10.06 WNT1 SERPINF1 P3H1 CRTAP COL5A2 COL1A2
2 endoplasmic reticulum GO:0005783 10.01 SERPINH1 PPIB P3H1 FKBP10 CRTAP CREB3L1
3 extracellular space GO:0005615 10 WNT1 SERPINH1 SERPINF1 CRTAP COL5A2 COL1A2
4 extracellular matrix GO:0031012 9.73 COL5A2 COL1A2 COL1A1 COL11A1
5 collagen-containing extracellular matrix GO:0062023 9.7 SERPINH1 SERPINF1 P3H1 COL5A2 COL1A2 COL1A1
6 collagen trimer GO:0005581 9.43 SERPINH1 COL5A2 COL1A2 COL1A1 COL11A1 CD36
7 collagen type I trimer GO:0005584 9.37 COL1A2 COL1A1
8 endoplasmic reticulum lumen GO:0005788 9.36 WNT1 SERPINH1 PPIB P3H1 FKBP10 CRTAP

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.78 COL5A2 COL1A2 COL1A1 COL11A1
2 osteoblast differentiation GO:0001649 9.69 CREB3L1 COL1A1 BGLAP
3 cellular response to amino acid stimulus GO:0071230 9.58 COL5A2 COL1A2 COL1A1
4 bone development GO:0060348 9.56 WNT1 PPIB P3H1 BGLAP
5 skeletal system development GO:0001501 9.55 COL5A2 COL1A2 COL1A1 BMP1 BGLAP
6 cartilage condensation GO:0001502 9.54 COL11A1 BMP1
7 negative regulation of cell-substrate adhesion GO:0010812 9.52 WNT1 COL1A1
8 chaperone-mediated protein folding GO:0061077 9.5 PPIB P3H1 CRTAP
9 collagen metabolic process GO:0032963 9.49 P3H1 COL1A2
10 skin morphogenesis GO:0043589 9.46 COL1A2 COL1A1
11 collagen biosynthetic process GO:0032964 9.43 SERPINH1 COL1A1
12 ossification GO:0001503 9.43 SLC34A1 COL5A2 COL1A1 COL11A1 BMP1 BGLAP
13 negative regulation of post-translational protein modification GO:1901874 9.37 P3H1 CRTAP
14 collagen fibril organization GO:0030199 9.1 SERPINH1 CRTAP COL5A2 COL1A2 COL1A1 COL11A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.46 COL5A2 COL1A2 COL1A1 COL11A1
2 SMAD binding GO:0046332 9.43 CREB3L1 COL5A2 COL1A2
3 platelet-derived growth factor binding GO:0048407 9.32 COL1A2 COL1A1
4 collagen binding GO:0005518 9.26 SERPINH1 PPIB P3H1 CRTAP
5 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL5A2 COL1A2 COL1A1 COL11A1
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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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