MCID: OST122
MIFTS: 57

Osteogenesis Imperfecta, Type Iii

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Iii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Iii:

Name: Osteogenesis Imperfecta, Type Iii 53
Osteogenesis Imperfecta Type Iii 12 49 71 28 69
Osteogenesis Imperfecta Type 3 12 55 14
Oi, Type Iii 53 71 51
Oi3 53 12 71
Progressive Deforming Osteogenesis Imperfecta 49 55
Severe Osteogenesis Imperfecta 49 55
Oi Type Iii 49 13
Oi Type 3 49 55
Osteogenesis Imperfecta, Progressively Deforming, with Normal Sclerae 53
Osteogenesis Imperfecta, Progressively Deforming with Normal Sclerae 49
Progressively Deforming Osteogenesis Imperfecta with Normal Sclerae 71
Progressively Deforming Osteogenesis Imperfecta with Normal Sclera 12
Progressively Deforming Oi 49
Osteogenesis Imperfecta 3 71
Imperfecta, Type Iii 53
Oi-Iii 71

Characteristics:

Orphanet epidemiological data:

55
osteogenesis imperfecta type 3
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Sweden); Age of onset: Infancy,Neonatal;

OMIM:

53
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 recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 259420
Disease Ontology 12 DOID:0110339
ICD10 32 Q78.0
Orphanet 55 ORPHA216812
MESH via Orphanet 42 C536044
UMLS via Orphanet 70 C0268362
ICD10 via Orphanet 33 Q78.0
MedGen 39 C0268362
MeSH 41 D010013
UMLS 69 C0268362

Summaries for Osteogenesis Imperfecta, Type Iii

NIH Rare Diseases : 49 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. Last updated: 3/24/2016

MalaCards based summary : Osteogenesis Imperfecta, Type Iii, also known as osteogenesis imperfecta type iii, is related to dentinogenesis imperfecta and osteogenesis imperfecta, type vi, and has symptoms including frontal bossing, scoliosis and kyphosis. 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 skin, and related phenotypes are cardiovascular system and growth/size/body region

UniProtKB/Swiss-Prot : 71 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.

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.

Description from OMIM: 259420

Related Diseases for Osteogenesis Imperfecta, Type Iii

Diseases in the Osteogenesis Imperfecta, Type I family:

Osteogenesis Imperfecta, Type Ii Osteogenesis Imperfecta, Type Iv
Osteogenesis Imperfecta, Type Iii Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Vii Osteogenesis Imperfecta, Type Viii
Osteogenesis Imperfecta, Type V Osteogenesis Imperfecta, Type Xi
Osteogenesis Imperfecta, Type X Osteogenesis Imperfecta, Type Xii
Osteogenesis Imperfecta, Type Vi Osteogenesis Imperfecta, Type Xiii
Osteogenesis Imperfecta, Type Xiv Osteogenesis Imperfecta, Type Xv
Osteogenesis Imperfecta, Type Xvi Osteogenesis Imperfecta, Type Xvii

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 dentinogenesis imperfecta 32.1 COL1A1 COL1A2 CRTAP FKBP10 P3H1
2 osteogenesis imperfecta, type vi 32.1 COL1A1 COL1A2 SERPINF1
3 osteogenesis imperfecta, type viii 31.9 COL1A1 COL1A2 CRTAP P3H1
4 osteogenesis imperfecta, type v 31.5 CD36 COL1A1 COL1A2 FDPS
5 osteogenesis imperfecta, type iv 30.8 CD36 COL1A1 COL1A2 CRTAP FKBP10 PPIB
6 brittle bone disorder 29.4 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 11.1
10 osteogenesis imperfecta, type xiv 11.1
11 osteogenesis imperfecta, type xv 11.1
12 ehlers-danlos/osteogenesis imperfecta syndrome 10.5 COL1A1 COL1A2
13 ehlers-danlos syndrome, arthrochalasia type, 1 10.5 COL1A1 COL1A2
14 high bone mass osteogenesis imperfecta 10.5 COL1A1 COL1A2
15 larsen-like syndrome 10.4 COL1A1 COL1A2
16 osteogenesis imperfecta, type xi 10.4 CRTAP FKBP10
17 scleroderma, familial progressive 10.4 CD36 COL1A1 COL1A2
18 myxofibrosarcoma 10.4 CD36 CREB3L1
19 ehlers-danlos syndrome, classic type, 1 10.4 CD36 COL1A1 COL1A2
20 caffey disease 10.3 CD36 COL1A1 COL1A2
21 fibromatosis, gingival, 1 10.3 CD36 SERPINH1
22 ossification of the posterior longitudinal ligament of spine 10.3 BGLAP CREB3L1
23 osteogenesis imperfecta, type vii 10.2 CD36 COL1A1 COL1A2 CRTAP
24 cohen-gibson syndrome 10.2 BGLAP CD36
25 cervical incompetence 10.2 CRTAP P3H1 SERPINH1
26 otosclerosis 10.2 CD36 COL1A1 COL1A2 SERPINF1
27 dental fluorosis 10.1 BGLAP COL1A2
28 adult fibrosarcoma 10.0 COL1A1 FDPS
29 osteoporosis, juvenile 10.0 BGLAP COL1A1 IGFBP3 WNT1
30 cerebellar hypoplasia 9.9
31 brachydactyly 9.9
32 arachnoiditis 9.9
33 arachnoid cysts 9.9
34 osteogenesis imperfecta, type ii 9.8 CD36 COL1A1 COL1A2 CRTAP P3H1 PPIB
35 bone development disease 9.8 COL1A1 COL1A2 CRTAP FKBP10 P3H1 PPIB
36 connective tissue disease 9.6 COL1A1 COL1A2 P3H1 PLOD2 PPIB SERPINH1
37 osteogenesis imperfecta, type i 9.3 BGLAP CD36 COL1A1 COL1A2 IGFBP3 PEPD
38 osteoporosis 9.2 BGLAP CD36 COL1A1 COL1A2 FDPS IGFBP3
39 bruck syndrome 8.9 CD36 COL1A1 COL1A2 CRTAP FKBP10 P3H1

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



Diseases related to Osteogenesis Imperfecta, Type Iii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Iii

Symptoms via clinical synopsis from OMIM:

53
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 RibsSternum Clavicles And Scapulae:
thin gracile ribs


Clinical features from OMIM:

259420

Human phenotypes related to Osteogenesis Imperfecta, Type Iii:

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

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iii:

43
# 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 BMP1 CD36 COL1A1 COL1A2 CREB3L1 CRTAP
3 hematopoietic system MP:0005397 9.96 BMP1 CD36 COL1A1 CREB3L1 FKBP10 MCAM
4 adipose tissue MP:0005375 9.88 IGFBP3 P3H1 BMP1 CD36 COL1A1 COL1A2
5 limbs/digits/tail MP:0005371 9.81 BMP1 COL1A1 COL1A2 FKBP10 IGFBP3 NOTO
6 muscle MP:0005369 9.56 CD36 COL1A1 COL1A2 IGFBP3 P3H1 PEPD
7 skeleton MP:0005390 9.47 IGFBP3 NOTO P3H1 PPIB SERPINF1 SERPINH1

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Iii

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

(show all 21)
# 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 Antirheumatic Agents Phase 1
15 Calcineurin Inhibitors Phase 1
16 Cyclosporins Phase 1
17 Dermatologic Agents Phase 1
18 Immunosuppressive Agents Phase 1
19 Antibodies Phase 1
20 Antibodies, Monoclonal Phase 1
21 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

Genetic Tests for Osteogenesis Imperfecta, Type Iii

Genetic tests related to Osteogenesis Imperfecta, Type Iii:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type Iii 28 COL1A1 COL1A2

Anatomical Context for Osteogenesis Imperfecta, Type Iii

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

38
Bone, Eye, Skin, Colon

Publications for Osteogenesis Imperfecta, Type Iii

Articles related to Osteogenesis Imperfecta, Type Iii:

(show all 30)
# 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
Increased nuchal translucency and short femur length as possible early signs of osteogenesis imperfecta type III. ( 23741540 )
2013
3
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
4
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. ( 19208385 )
2009
5
New trends in the treatment of osteogenesis imperfecta type III - own experience. ( 19153548 )
2008
6
Carcinoma of left colon presenting as mechanical obstruction in a patient with osteogenesis imperfecta type III. ( 17171434 )
2007
7
Comparison of nanoindentation measurements between osteogenesis imperfecta Type III and Type IV and between different anatomic locations (femur/tibia versus iliac crest). ( 17453908 )
2007
8
Severe cerebellar hypoplasia associated with osteogenesis imperfecta type III. ( 17719950 )
2007
9
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
10
Safety enhancement of a specialized power assisted tricycle for a child with osteogenesis imperfecta type III. ( 15850131 )
2005
11
Treatment of poor linear growth in a patient with osteogenesis imperfecta type III. ( 15598484 )
2004
12
Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen. ( 12870654 )
2003
13
Calcium kinetics in children with osteogenesis imperfecta type III and IV: pre- and post-growth hormone therapy. ( 10920211 )
2000
14
Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV. ( 10511119 )
1999
15
Histopathologic and electron-microscopic features of corneal and scleral collagen fibers in osteogenesis imperfecta type III. ( 9248835 )
1997
16
Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. ( 9240878 )
1997
17
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
18
Type 1 collagen synthesis by skin fibroblasts from 17 patients with osteogenesis imperfecta type III. ( 8747514 )
1995
19
A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. ( 7749416 )
1995
20
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. ( 7860070 )
1995
21
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
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
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. ( 8100856 )
1993
24
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. ( 8444468 )
1993
25
Collagen studies in an osteogenesis imperfecta type III family. ( 3214053 )
1988
26
Prenatal diagnosis of osteogenesis imperfecta type III. ( 3547385 )
1987
27
Osteogenesis imperfecta type III: an ancient mutation in Africa? ( 3425600 )
1987
28
Abnormal procollagen synthesis in fibroblasts from three patients of the same family with a severe form of osteogenesis imperfecta (type III). ( 3768427 )
1986
29
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. ( 3953678 )
1986
30
On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa. ( 3995789 )
1985

Variations for Osteogenesis Imperfecta, Type Iii

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

71 (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 all 41)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A1 COL1A1, EX22DEL deletion Pathogenic
2 COL1A2 NM_000089.3(COL1A2): c.4001_4004delATAA (p.Asn1334Serfs) deletion Pathogenic rs72659345 GRCh37 Chromosome 7, 94059605: 94059608
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.1757G> T (p.Gly586Val) single nucleotide variant Pathogenic rs121912907 GRCh37 Chromosome 7, 94044575: 94044575
5 COL1A2 COL1A2, VAL255DEL deletion Pathogenic
6 COL1A2 NM_000089.3(COL1A2): c.2575G> A (p.Gly859Ser) single nucleotide variant Pathogenic rs72658200 GRCh37 Chromosome 7, 94053657: 94053657
7 COL1A2 NM_000089.3(COL1A2): c.3017G> C (p.Gly1006Ala) single nucleotide variant Pathogenic rs121912911 GRCh37 Chromosome 7, 94055754: 94055754
8 COL1A2 NM_000089.3(COL1A2): c.2251G> A (p.Gly751Ser) single nucleotide variant Pathogenic rs72658176 GRCh37 Chromosome 7, 94049916: 94049916
9 COL1A2 NM_000089.3(COL1A2): c.1099G> T (p.Gly367Trp) single nucleotide variant Pathogenic rs72656402 GRCh37 Chromosome 7, 94039741: 94039741
10 COL1A2 NM_000089.3(COL1A2): c.3269G> A (p.Gly1090Asp) single nucleotide variant Pathogenic rs267606742 GRCh37 Chromosome 7, 94056940: 94056940
11 COL1A2 NM_000089.3(COL1A2): c.3295G> A (p.Gly1099Arg) single nucleotide variant Pathogenic rs72659338 GRCh37 Chromosome 7, 94056966: 94056966
12 COL1A1 NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys) single nucleotide variant Pathogenic rs67368147 GRCh37 Chromosome 17, 48269166: 48269166
13 COL1A1 NM_000088.3(COL1A1): c.3064G> A (p.Gly1022Ser) single nucleotide variant Pathogenic rs66523073 GRCh37 Chromosome 17, 48266138: 48266138
14 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh37 Chromosome 17, 48273524: 48273524
15 COL1A1 NM_000088.3(COL1A1): c.1588G> A (p.Gly530Ser) single nucleotide variant Pathogenic rs67682641 GRCh37 Chromosome 17, 48271736: 48271736
16 COL1A1 NM_000088.3(COL1A1): c.3118G> A (p.Gly1040Ser) single nucleotide variant Pathogenic rs72653178 GRCh37 Chromosome 17, 48265980: 48265980
17 COL1A1 NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser) single nucleotide variant Pathogenic rs72653131 GRCh37 Chromosome 17, 48267406: 48267406
18 COL1A1 NM_000088.3(COL1A1): c.4391T> C (p.Leu1464Pro) single nucleotide variant Pathogenic rs72656353 GRCh37 Chromosome 17, 48262867: 48262867
19 COL1A1 COL1A1, 562-BP DEL deletion Pathogenic
20 COL1A1 NM_000088.3(COL1A1): c.761G> A (p.Gly254Glu) single nucleotide variant Pathogenic rs72645320 GRCh37 Chromosome 17, 48274414: 48274414
21 COL1A1 NM_000088.3(COL1A1): c.959G> A (p.Gly320Asp) single nucleotide variant Likely pathogenic rs72645353 GRCh37 Chromosome 17, 48273559: 48273559
22 COL1A2 NM_000089.3(COL1A2): c.1971+1G> A single nucleotide variant Pathogenic rs72658151 GRCh37 Chromosome 7, 94047144: 94047144
23 COL1A2 NM_000089.3(COL1A2): c.2099G> A (p.Gly700Asp) single nucleotide variant Pathogenic rs72658161 GRCh37 Chromosome 7, 94049564: 94049564
24 COL1A2 NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu) single nucleotide variant Likely pathogenic rs768171831 GRCh37 Chromosome 7, 94055323: 94055323
25 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh38 Chromosome 7, 94426459: 94426459
26 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
27 COL1A2 NM_000089.3(COL1A2): c.1550G> A (p.Gly517Asp) single nucleotide variant Pathogenic rs1057516053 GRCh37 Chromosome 7, 94042441: 94042441
28 COL1A2 NM_000089.3(COL1A2): c.992G> A (p.Gly331Asp) single nucleotide variant Pathogenic rs67729041 GRCh37 Chromosome 7, 94039090: 94039090
29 COL1A2 NM_000089.3(COL1A2): c.1162G> C (p.Gly388Arg) single nucleotide variant Pathogenic rs1114167412 GRCh37 Chromosome 7, 94039804: 94039804
30 COL1A2 NM_000089.3(COL1A2): c.1937G> T (p.Gly646Val) single nucleotide variant Pathogenic rs72658150 GRCh38 Chromosome 7, 94417797: 94417797
31 COL1A2 NM_000089.3(COL1A2): c.2918G> T (p.Gly973Val) single nucleotide variant Pathogenic rs67609234 GRCh38 Chromosome 7, 94425832: 94425832
32 COL1A2 NM_000089.3(COL1A2): c.3008G> A (p.Gly1003Asp) single nucleotide variant Pathogenic rs1114167414 GRCh38 Chromosome 7, 94426433: 94426433
33 COL1A2 NM_000089.3(COL1A2): c.3089G> C (p.Gly1030Ala) single nucleotide variant Pathogenic rs1114167415 GRCh38 Chromosome 7, 94426514: 94426514
34 COL1A1 NM_000088.3(COL1A1): c.3226G> A (p.Gly1076Ser) single nucleotide variant Pathogenic rs67394386 GRCh37 Chromosome 17, 48265492: 48265492
35 COL1A1 NM_000088.3(COL1A1): c.2596G> A (p.Gly866Ser) single nucleotide variant Pathogenic rs67445413 GRCh37 Chromosome 17, 48267237: 48267237
36 COL1A1 NM_000088.3(COL1A1): c.2235+1G> A single nucleotide variant Pathogenic rs1114167390 GRCh37 Chromosome 17, 48268743: 48268743
37 COL1A1 NM_000088.3(COL1A1): c.2155G> A (p.Gly719Ser) single nucleotide variant Pathogenic rs72651645 GRCh38 Chromosome 17, 50191463: 50191463
38 COL1A1 NM_000088.3(COL1A1): c.2075G> C (p.Gly692Ala) single nucleotide variant Pathogenic rs1114167388 GRCh38 Chromosome 17, 50191840: 50191840
39 COL1A1 NM_000088.3(COL1A1): c.65_70delGCCAAG (p.Gly22_Gln23del) deletion Pathogenic rs1114167409 GRCh38 Chromosome 17, 50201444: 50201449
40 COL1A2 LRG_2t1: c.(?_-471)_(738+1_739-1)del deletion Pathogenic
41 COL1A1 NM_000088.3(COL1A1): c.3443G> A (p.Gly1148Asp) single nucleotide variant Pathogenic rs1131692320 GRCh37 Chromosome 17, 48264464: 48264464

Expression for Osteogenesis Imperfecta, Type Iii

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

Pathways for Osteogenesis Imperfecta, Type Iii

GO Terms for Osteogenesis Imperfecta, Type Iii

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.97 COL1A1 COL1A2 CREB3L1 CRTAP FKBP10 P3H1
2 proteinaceous extracellular matrix GO:0005578 9.73 BMP1 COL1A1 COL1A2 CRTAP P3H1 WNT1
3 extracellular space GO:0005615 9.7 BGLAP BMP1 CD36 COL1A1 COL1A2 CRTAP
4 collagen trimer GO:0005581 9.67 CD36 COL1A1 COL1A2 SERPINH1
5 collagen type I trimer GO:0005584 9.4 COL1A1 COL1A2
6 macromolecular complex GO:0032991 9.33 CRTAP P3H1 PPIB
7 endoplasmic reticulum lumen GO:0005788 9.32 BGLAP COL1A1 COL1A2 CRTAP FKBP10 IGFBP3
8 extracellular region GO:0005576 10.09 BGLAP BMP1 COL1A1 COL1A2 IGFBP3 MCAM

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 9.61 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 9.4 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 for Osteogenesis Imperfecta, Type Iii

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
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60 QIAGEN
65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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