OI2
MCID: OST080
MIFTS: 58

Osteogenesis Imperfecta, Type Ii (OI2)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Ii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Ii:

Name: Osteogenesis Imperfecta, Type Ii 58 56 41
Osteogenesis Imperfecta Type 2 12 54 60 30 15
Vrolik Type of Osteogenesis Imperfecta 58 12 54 76
Osteogenesis Imperfecta Congenita 58 54 76
Oi2 58 12 76
Osteogenesis Imperfecta Congenita Perinatal Lethal Form 54 76
Osteogenesis Imperfecta Type Ii 12 54
Lethal Osteogenesis Imperfecta 54 60
Oi, Type Ii 58 76
Oi Type 2 54 60
Oic 58 76
Osteogenesis Imperfecta Congenita, Perinatal Lethal Form 58
Perinatal Lethal Osteogenesis Imperfecta Congenita 12
Osteogenesis Imperfecta Type Ii Autosomal Dominant 76
Osteogenesis Imperfecta, Dominant Perinatal Lethal 74
Osteogenesis Imperfecta Congenita; Oic 58
Osteogenesis Imperfecta Type Iia 76
Osteogenesis Imperfecta 2 76
Perinatally Lethal Oi 54
Oi Type Iia 76
Oi Type Ii 13
Oi-Iia 76
Oi-Ii 76

Characteristics:

Orphanet epidemiological data:

60
osteogenesis imperfecta type 2
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
perinatal lethal
survival greater than one year rare
gonadal and somatic mosaicism reported in parent
ultrasound detection in second trimester of pregnancy


HPO:

33
osteogenesis imperfecta, type ii:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Ii

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 216804Disease definitionOsteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.EpidemiologyThe overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type II is unknown.Clinical descriptionThere are three subtypes of OI type II (A, B and C) that are characterized by different radiological features. Patients with OI type IIA present with broad ribs with multiple fractures, continuous beaded ribs and severe undermodeling of the femur, OI type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some undermodeling of the femur, and OI type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapulae and ischiae, and slender and twisted long bones. Type IIC is extremely rare and its existence is even doubted.EtiologyOI type IIA is caused by mutations of the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively) and transmission is autosomal dominant. Type IIB can be autosomal dominant and also caused by mutations of the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively) or it can be autosomal recessive and caused by mutations in the CRTAP gene (3p22) (sometimes described as OI type VII) or the LEPRE1 gene (1p34) (sometimes described as OI type VIII) or the PPIB gene (15q21-q22) (sometimes described as OI type IX).Visit the Orphanet disease page for more resources.

MalaCards based summary : Osteogenesis Imperfecta, Type Ii, also known as osteogenesis imperfecta type 2, is related to osteogenesis imperfecta, type v and osteogenesis imperfecta, type vii. An important gene associated with Osteogenesis Imperfecta, Type Ii is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Collagen chain trimerization and ECM-receptor interaction. The drugs Busulfan and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related phenotypes are respiratory insufficiency and platyspondyly

Disease Ontology : 12 An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

OMIM : 58 Osteogenesis imperfecta type II constitutes a disorder characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency (Sillence et al., 1979; Barnes et al., 2006). Also see osteogenesis imperfecta type VII (610682), an autosomal recessive form of lethal OI caused by mutation in the CRTAP gene (605497). (166210)

UniProtKB/Swiss-Prot : 76 Osteogenesis imperfecta 2: 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. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency.

Related Diseases for Osteogenesis Imperfecta, Type Ii

Diseases in the Osteogenesis Imperfecta, Type Ii family:

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

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type v 32.0 CD36 COL1A1 COL1A2
2 osteogenesis imperfecta, type vii 31.9 CD36 COL1A1 COL1A2 CRTAP
3 osteogenesis imperfecta, type viii 31.7 COL1A1 COL1A2 CRTAP P3H1
4 osteogenesis imperfecta, type iv 31.3 CD36 COL1A1 COL1A2 CRTAP PPIB
5 otosclerosis 30.4 COL1A1 COL1A2
6 brittle bone disorder 30.1 CD36 COL1A1 COL1A2 CRTAP FGFR3 P3H1
7 osteogenesis imperfecta, type iii 29.3 CD36 COL1A1 COL1A2 CRTAP P3H1 PPIB
8 osteogenesis imperfecta congenita, microcephaly, and cataracts 12.4
9 osteogenesis imperfecta, type xiii 11.2
10 osteogenesis imperfecta, type xiv 11.2
11 osteogenesis imperfecta, type xv 11.2
12 col1a1/2-related osteogenesis imperfecta 10.8
13 constipation 10.6
14 ehlers-danlos/osteogenesis imperfecta syndrome 10.3 COL1A1 COL1A2
15 high bone mass osteogenesis imperfecta 10.3 COL1A1 COL1A2
16 larsen-like syndrome 10.3 COL1A1 COL1A2
17 beta-thalassemia 10.3
18 thalassemia 10.3
19 classic ehlers-danlos syndrome 10.2 COL1A1 COL1A2
20 ehlers-danlos syndrome, classic type, 1 10.2 COL1A1 COL1A2
21 ehlers-danlos syndrome, classic type, 2 10.2 CD36 COL1A1
22 cervical incompetence 10.2 CRTAP P3H1
23 osteoporosis, juvenile 10.1 CD36 COL1A1
24 scleroderma, familial progressive 10.1 CD36 COL1A1 COL1A2
25 caffey disease 10.1 CD36 COL1A1 COL1A2
26 arterial tortuosity syndrome 10.1
27 insulin-like growth factor i 10.1
28 hypophosphatasia 10.1
29 cutis laxa 10.1
30 collagen disease 10.1 COL1A1 COL1A2
31 thanatophoric dysplasia, type i 10.1
32 chondrodysplasia punctata syndrome 10.1
33 hydrocephalus 10.1
34 congenital hydrocephalus 10.1
35 spondyloepiphyseal dysplasia congenita 10.1 COL1A1 COL1A2 FGFR3
36 intracranial aneurysm 10.0
37 bone disease 9.9 CD36 COL1A1 FGFR3
38 dentinogenesis imperfecta 9.9 COL1A1 COL1A2 CRTAP P3H1
39 osteogenesis imperfecta, type i 9.9 CD36 COL1A1 COL1A2 FGFR3
40 connective tissue disease 9.8 COL1A1 COL1A2 P3H1 PPIB
41 chondromyxoid fibroma 9.8 FGFR3 SOX9
42 synovial chondromatosis 9.8 COL1A1 FGFR3 SOX9
43 myopia 9.7 CACNA1F CHD7 COL1A1
44 scoliosis 9.7 CHD7 COL1A1 COL1A2 FGFR3
45 achondroplasia 9.6 FGFR3 SOX9
46 bruck syndrome 9.5 CD36 COL1A1 COL1A2 CRTAP P3H1 PPIB
47 bone development disease 9.0 COL1A1 COL1A2 CRTAP FGFR3 P3H1 PPIB

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



Diseases related to Osteogenesis Imperfecta, Type Ii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Ii

Human phenotypes related to Osteogenesis Imperfecta, Type Ii:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 33 HP:0002093
2 platyspondyly 33 HP:0000926
3 thin skin 33 HP:0000963
4 congestive heart failure 33 HP:0001635
5 wormian bones 33 HP:0002645
6 recurrent fractures 33 HP:0002757
7 abnormality of pelvic girdle bone morphology 33 HP:0002644
8 disproportionate short-limb short stature 33 HP:0008873
9 convex nasal ridge 33 HP:0000444
10 broad long bones 33 HP:0005622
11 large fontanelles 33 HP:0000239
12 blue sclerae 33 HP:0000592
13 premature birth 33 HP:0001622
14 multiple prenatal fractures 33 HP:0005855
15 tibial bowing 33 HP:0002982
16 small for gestational age 33 HP:0001518
17 crumpled long bones 33 HP:0006367
18 pulmonary insufficiency 33 HP:0010444
19 nonimmune hydrops fetalis 33 HP:0001790
20 beaded ribs 33 HP:0000923
21 absent ossification of calvaria 33 HP:0005623

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
platyspondyly

Cardiovascular Heart:
congestive heart failure

Head And Neck Eyes:
blue sclerae

Skeletal Limbs:
tibial bowing
broad crumpled long bones
telescoped femur

Head And Neck Nose:
beaked nose

Growth Height:
short limb dwarfism

Skeletal:
numerous multiple fractures present at birth

Prenatal Manifestations:
nonimmune hydrops

Skin Nails Hair Skin:
thin skin

Skeletal Skull:
wormian bones
large fontanelles
soft calvaria
absent calvarial mineralization

Prenatal Manifestations Delivery:
premature birth

Respiratory Lung:
pulmonary insufficiency

Growth Weight:
low birth weight

Chest Ribs Sternum Clavicles And Scapulae:
beaded ribs

Skeletal Pelvis:
hips usually flexed and abducted (frog-leg position)
flattened acetabulae and iliac wings

Clinical features from OMIM:

166210

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Ii:

47 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.09 CD36 CHD7 COL1A1 COL1A2 CRTAP FGFR3
2 behavior/neurological MP:0005386 10.05 CD36 CHD7 COL1A1 COL1A2 FGFR3 P3H1
3 cellular MP:0005384 10.04 CACNA1F CD36 CHD7 COL1A1 COL1A2 FGFR3
4 adipose tissue MP:0005375 10 CD36 CHD7 COL1A1 COL1A2 P3H1 SOX9
5 craniofacial MP:0005382 9.88 CHD7 COL1A1 FGFR3 PPIB SOX9
6 limbs/digits/tail MP:0005371 9.87 CHD7 COL1A1 COL1A2 FGFR3 P3H1 PPIB
7 digestive/alimentary MP:0005381 9.85 CD36 CHD7 COL1A1 FGFR3 SOX9
8 integument MP:0010771 9.85 COL1A1 COL1A2 FGFR3 P3H1 PPIB SOX9
9 muscle MP:0005369 9.73 CD36 CHD7 COL1A1 COL1A2 P3H1 SOX9
10 hearing/vestibular/ear MP:0005377 9.71 CHD7 COL1A1 FGFR3 SOX9
11 skeleton MP:0005390 9.61 CD36 CHD7 COL1A1 COL1A2 CRTAP FGFR3
12 no phenotypic analysis MP:0003012 9.55 CACNA1F COL1A1 FGFR3 PPIB SOX9
13 vision/eye MP:0005391 9.1 CACNA1F CD36 CHD7 COL1A1 FGFR3 SOX9

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Ii

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 1 55-98-1 2478
2
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
3
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
4 Immunosuppressive Agents Phase 1
5 Antineoplastic Agents, Alkylating Phase 1
6 Cyclosporins Phase 1
7 Antirheumatic Agents Phase 1
8 Dermatologic Agents Phase 1
9 Immunologic Factors Phase 1
10 Anti-Infective Agents Phase 1
11 Calcineurin Inhibitors Phase 1
12 Alkylating Agents Phase 1
13 Antifungal Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Repeated Infusions of Mesenchymal Stromal Cells in Children With Osteogenesis Imperfecta Completed NCT01061099 Phase 1
2 Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation Completed NCT00705120 Phase 1 Cyclophosphamide;Cyclosporin;Busulfan

Search NIH Clinical Center for Osteogenesis Imperfecta, Type Ii

Genetic Tests for Osteogenesis Imperfecta, Type Ii

Genetic tests related to Osteogenesis Imperfecta, Type Ii:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 2 30

Anatomical Context for Osteogenesis Imperfecta, Type Ii

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

42
Bone, Skin, Heart, Eye, Bone Marrow

Publications for Osteogenesis Imperfecta, Type Ii

Articles related to Osteogenesis Imperfecta, Type Ii:

(show all 40)
# Title Authors Year
1
A Case of Osteogenesis Imperfecta Type II With Additional Balanced Translocation t(1;20)(p13;p11.2). ( 30942118 )
2019
2
A Non-Lethal Osteogenesis Imperfecta Type II Mutation. ( 30408804 )
2019
3
Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis. ( 28674909 )
2017
4
Mutation Analysis of COL1A1 and COL1A2 in Fetuses with Osteogenesis Imperfecta Type II/III. ( 25633413 )
2015
5
Rare sonographic finding of osteogenesis imperfecta type 2: fluid retention in the subarachnoid space. ( 27277461 )
2013
6
A case of osteogenesis imperfecta type II caused by a novel COL1A2 gene mutation: endoscopic third ventriculostomy to prevent hydrocephalus. ( 22911485 )
2012
7
Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium. ( 22795121 )
2012
8
Identification of a COL1A2 mutation with a deletion spanning coding and intronic sequence in exon 19 and intron 19 in a fetus with osteogenesis imperfecta type II. ( 22795120 )
2012
9
Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II. ( 22795119 )
2012
10
Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: the current state of fetal computed tomography. ( 23181495 )
2012
11
Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional ultrasound and computed tomography. ( 21450031 )
2011
12
The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study. ( 22375084 )
2010
13
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. ( 18996919 )
2009
14
Osteogenesis imperfecta type II: fetal magnetic resonance imaging findings. ( 18931501 )
2008
15
Gene symbol: COL1A2. Disease: osteogenesis imperfecta type II. ( 17128474 )
2006
16
First-trimester diagnosis of osteogenesis imperfecta type II by three-dimensional sonography. ( 12636334 )
2003
17
Initial experience using magnetic resonance imaging in prenatal diagnosis of osteogenesis imperfecta type II: a case report. ( 12504324 )
2003
18
[Update on prenatal diagnosis of osteogenesis imperfecta type II : an index case report diagnosed by ultrasonography in the first trimester]. ( 12457140 )
2002
19
A case of chondrodysplasia punctata with features of osteogenesis imperfecta type II. ( 11400945 )
2001
20
Chest compressions in an infant with osteogenesis imperfecta type II: No new rib fractures. ( 11061808 )
2000
21
Abnormalities in central nervous system development in osteogenesis imperfecta type II. ( 9949218 )
1999
22
Prenatal diagnosis of osteogenesis imperfecta type II. ( 9622170 )
1998
23
Caudal block in a child with osteogenesis imperfecta, type II. ( 7489444 )
1995
24
Osteogenesis imperfecta type II: microvascular changes in the CNS. ( 7671457 )
1995
25
Osteogenesis imperfecta type II in one of a pair of twins. ( 7896347 )
1994
26
First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography. ( 8415424 )
1993
27
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. ( 8100209 )
1993
28
Perinatal pathology casebook. Osteogenesis imperfecta type II. ( 2037894 )
1991
29
An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II. ( 2298750 )
1990
30
Analysis of cultured chorionic villi in a case of osteogenesis imperfecta type II: implications for prenatal diagnosis. ( 2368816 )
1990
31
Osteogenesis imperfecta type II: prenatal sonographic diagnosis. ( 2403681 )
1990
32
Pulmonary hypoplasia and osteogenesis imperfecta type II with defective synthesis of alpha I(1) procollagen. ( 2803853 )
1989
33
Osteogenesis imperfecta type II. ( 3251845 )
1988
34
Upper cervical cord compression as cause of death in osteogenesis imperfecta type II. ( 3958833 )
1986
35
Aortic elastin abnormalities in osteogenesis imperfecta type II. ( 3816142 )
1986
36
Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II. ( 4022126 )
1985
37
Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity. ( 6702894 )
1984
38
Simple ultrasonic diagnosis of osteogenesis imperfecta type II in early second trimester. ( 6463030 )
1984
39
Prenatal diagnosis of osteogenesis imperfecta type II by real-time ultrasound. ( 6885059 )
1983
40
Midtrimester diagnosis of osteogenesis imperfecta, type II. ( 7126785 )
1982

Variations for Osteogenesis Imperfecta, Type Ii

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

76 (show top 50) (show all 121)
# Symbol AA change Variation ID SNP ID
1 COL1A1 p.Gly275Asp VAR_001649
2 COL1A1 p.Gly389Arg VAR_001656
3 COL1A1 p.Gly398Asp VAR_001658
4 COL1A1 p.Gly422Cys VAR_001661
5 COL1A1 p.Gly425Ser VAR_001662
6 COL1A1 p.Gly434Val VAR_001663
7 COL1A1 p.Gly476Arg VAR_001664 rs57377812
8 COL1A1 p.Gly530Ser VAR_001666
9 COL1A1 p.Gly533Asp VAR_001667
10 COL1A1 p.Gly560Arg VAR_001670
11 COL1A1 p.Gly569Arg VAR_001672
12 COL1A1 p.Gly593Ser VAR_001674
13 COL1A1 p.Gly656Ser VAR_001676
14 COL1A1 p.Gly719Asp VAR_001679
15 COL1A1 p.Gly728Arg VAR_001681
16 COL1A1 p.Gly737Asp VAR_001682
17 COL1A1 p.Gly743Ser VAR_001683
18 COL1A1 p.Gly743Val VAR_001684
19 COL1A1 p.Gly764Val VAR_001685
20 COL1A1 p.Gly776Ser VAR_001687
21 COL1A1 p.Gly809Ser VAR_001688
22 COL1A1 p.Gly815Val VAR_001689
23 COL1A1 p.Gly839Ser VAR_001692
24 COL1A1 p.Gly842Arg VAR_001693
25 COL1A1 p.Gly845Arg VAR_001694
26 COL1A1 p.Gly851Asp VAR_001695
27 COL1A1 p.Gly869Cys VAR_001696
28 COL1A1 p.Gly884Ser VAR_001697
29 COL1A1 p.Gly896Cys VAR_001698
30 COL1A1 p.Gly926Cys VAR_001699
31 COL1A1 p.Gly980Val VAR_001700
32 COL1A1 p.Gly1022Val VAR_001703
33 COL1A1 p.Gly1025Arg VAR_001704
34 COL1A1 p.Gly1040Ser VAR_001705
35 COL1A1 p.Gly1043Ser VAR_001706
36 COL1A1 p.Gly1061Asp VAR_001710
37 COL1A1 p.Gly1079Ser VAR_001714
38 COL1A1 p.Gly1082Cys VAR_001715
39 COL1A1 p.Gly1088Ala VAR_001716
40 COL1A1 p.Gly1091Ser VAR_001717
41 COL1A1 p.Gly1100Asp VAR_001718
42 COL1A1 p.Gly1106Ala VAR_001719
43 COL1A1 p.Gly1124Cys VAR_001720
44 COL1A1 p.Gly1142Ser VAR_001721
45 COL1A1 p.Gly1151Val VAR_001723
46 COL1A1 p.Gly1154Arg VAR_001724
47 COL1A1 p.Gly1166Cys VAR_001725
48 COL1A1 p.Gly1172Asp VAR_001726
49 COL1A1 p.Gly1181Ser VAR_001727
50 COL1A1 p.Gly1184Val VAR_001728

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Ii:

6 (show top 50) (show all 151)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A2 NC_000007.14: g.94418886_94423301del4416 deletion Pathogenic GRCh37 Chromosome 7, 94048198: 94052613
2 COL1A2 NC_000007.14: g.94418886_94423301del4416 deletion Pathogenic GRCh38 Chromosome 7, 94418886: 94423301
3 COL1A2 NM_000089.3(COL1A2): c.2720G> A (p.Gly907Asp) single nucleotide variant Pathogenic rs121912900 GRCh37 Chromosome 7, 94054475: 94054475
4 COL1A2 NM_000089.3(COL1A2): c.2720G> A (p.Gly907Asp) single nucleotide variant Pathogenic rs121912900 GRCh38 Chromosome 7, 94425163: 94425163
5 COL1A2 COL1A2, EX33DEL deletion Pathogenic
6 COL1A2 NM_000089.3(COL1A2): c.1640G> A (p.Gly547Asp) single nucleotide variant Pathogenic rs121912901 GRCh37 Chromosome 7, 94043234: 94043234
7 COL1A2 NM_000089.3(COL1A2): c.1640G> A (p.Gly547Asp) single nucleotide variant Pathogenic rs121912901 GRCh38 Chromosome 7, 94413922: 94413922
8 COL1A2 NM_000089.3(COL1A2): c.2593G> A (p.Gly865Ser) single nucleotide variant Pathogenic rs121912902 GRCh37 Chromosome 7, 94053675: 94053675
9 COL1A2 NM_000089.3(COL1A2): c.2593G> A (p.Gly865Ser) single nucleotide variant Pathogenic rs121912902 GRCh38 Chromosome 7, 94424363: 94424363
10 COL1A2 COL1A2, GLY976ASP undetermined variant Pathogenic
11 COL1A2 NM_000089.3(COL1A2): c.2414G> A (p.Gly805Asp) single nucleotide variant Pathogenic rs121912904 GRCh37 Chromosome 7, 94052279: 94052279
12 COL1A2 NM_000089.3(COL1A2): c.2414G> A (p.Gly805Asp) single nucleotide variant Pathogenic rs121912904 GRCh38 Chromosome 7, 94422967: 94422967
13 COL1A2 COL1A2, EX28DEL deletion Pathogenic
14 COL1A2 NM_000089.3(COL1A2): c.1414G> T (p.Gly472Cys) single nucleotide variant Pathogenic rs121912906 GRCh37 Chromosome 7, 94041905: 94041905
15 COL1A2 NM_000089.3(COL1A2): c.1414G> T (p.Gly472Cys) single nucleotide variant Pathogenic rs121912906 GRCh38 Chromosome 7, 94412593: 94412593
16 COL1A2 COL1A2, IVS33DS, G-A, +5 single nucleotide variant Pathogenic
17 COL1A2 NM_000089.3(COL1A2): c.2080G> C (p.Gly694Arg) single nucleotide variant Pathogenic rs121912908 GRCh37 Chromosome 7, 94049545: 94049545
18 COL1A2 NM_000089.3(COL1A2): c.2080G> C (p.Gly694Arg) single nucleotide variant Pathogenic rs121912908 GRCh38 Chromosome 7, 94420233: 94420233
19 COL1A2 NM_000089.3(COL1A2): c.1739G> A (p.Gly580Asp) single nucleotide variant Pathogenic rs121912909 GRCh37 Chromosome 7, 94044557: 94044557
20 COL1A2 NM_000089.3(COL1A2): c.1739G> A (p.Gly580Asp) single nucleotide variant Pathogenic rs121912909 GRCh38 Chromosome 7, 94415245: 94415245
21 COL1A2 NM_000089.3(COL1A2): c.1504G> A (p.Gly502Ser) single nucleotide variant Pathogenic rs121912910 GRCh37 Chromosome 7, 94042395: 94042395
22 COL1A2 NM_000089.3(COL1A2): c.1504G> A (p.Gly502Ser) single nucleotide variant Pathogenic rs121912910 GRCh38 Chromosome 7, 94413083: 94413083
23 COL1A2 NM_000089.3(COL1A2): c.1262G> A (p.Gly421Asp) single nucleotide variant Pathogenic rs267606741 GRCh37 Chromosome 7, 94040378: 94040378
24 COL1A2 NM_000089.3(COL1A2): c.1262G> A (p.Gly421Asp) single nucleotide variant Pathogenic rs267606741 GRCh38 Chromosome 7, 94411066: 94411066
25 COL1A1 NM_000088.3(COL1A1): c.824G> A (p.Gly275Asp) single nucleotide variant Pathogenic rs72645333 GRCh37 Chromosome 17, 48274012: 48274012
26 COL1A1 NM_000088.3(COL1A1): c.824G> A (p.Gly275Asp) single nucleotide variant Pathogenic rs72645333 GRCh38 Chromosome 17, 50196651: 50196651
27 COL1A1 NM_000088.3(COL1A1): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs72648363 GRCh37 Chromosome 17, 48271366: 48271366
28 COL1A1 NM_000088.3(COL1A1): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs72648363 GRCh38 Chromosome 17, 50194005: 50194005
29 COL1A1 NM_000088.3(COL1A1): c.2210G> A (p.Gly737Asp) single nucleotide variant Pathogenic rs72651651 GRCh37 Chromosome 17, 48268769: 48268769
30 COL1A1 NM_000088.3(COL1A1): c.2210G> A (p.Gly737Asp) single nucleotide variant Pathogenic rs72651651 GRCh38 Chromosome 17, 50191408: 50191408
31 COL1A1 NM_000088.3(COL1A1): c.2552G> A (p.Gly851Asp) single nucleotide variant Pathogenic rs72653137 GRCh37 Chromosome 17, 48267369: 48267369
32 COL1A1 NM_000088.3(COL1A1): c.2552G> A (p.Gly851Asp) single nucleotide variant Pathogenic rs72653137 GRCh38 Chromosome 17, 50190008: 50190008
33 COL1A1 NM_000088.3(COL1A1): c.2533G> A (p.Gly845Arg) single nucleotide variant Pathogenic rs72653136 GRCh37 Chromosome 17, 48267388: 48267388
34 COL1A1 NM_000088.3(COL1A1): c.2533G> A (p.Gly845Arg) single nucleotide variant Pathogenic rs72653136 GRCh38 Chromosome 17, 50190027: 50190027
35 COL1A1 NM_000088.3(COL1A1): c.2605G> T (p.Gly869Cys) single nucleotide variant Pathogenic rs72653143 GRCh37 Chromosome 17, 48267228: 48267228
36 COL1A1 NM_000088.3(COL1A1): c.2605G> T (p.Gly869Cys) single nucleotide variant Pathogenic rs72653143 GRCh38 Chromosome 17, 50189867: 50189867
37 COL1A1 NM_000088.3(COL1A1): c.2686G> T (p.Gly896Cys) single nucleotide variant Pathogenic rs72653152 GRCh37 Chromosome 17, 48266881: 48266881
38 COL1A1 NM_000088.3(COL1A1): c.2686G> T (p.Gly896Cys) single nucleotide variant Pathogenic rs72653152 GRCh38 Chromosome 17, 50189520: 50189520
39 COL1A1 NM_000088.3(COL1A1): c.2776G> T (p.Gly926Cys) single nucleotide variant Pathogenic rs72653154 GRCh37 Chromosome 17, 48266791: 48266791
40 COL1A1 NM_000088.3(COL1A1): c.2776G> T (p.Gly926Cys) single nucleotide variant Pathogenic rs72653154 GRCh38 Chromosome 17, 50189430: 50189430
41 COL1A1 NM_000088.3(COL1A1): c.3073G> A (p.Gly1025Arg) single nucleotide variant Pathogenic rs72653172 GRCh37 Chromosome 17, 48266129: 48266129
42 COL1A1 NM_000088.3(COL1A1): c.3073G> A (p.Gly1025Arg) single nucleotide variant Pathogenic rs72653172 GRCh38 Chromosome 17, 50188768: 50188768
43 COL1A1 NM_000088.3(COL1A1): c.3182G> A (p.Gly1061Asp) single nucleotide variant Pathogenic rs72654797 GRCh37 Chromosome 17, 48265916: 48265916
44 COL1A1 NM_000088.3(COL1A1): c.3182G> A (p.Gly1061Asp) single nucleotide variant Pathogenic rs72654797 GRCh38 Chromosome 17, 50188555: 50188555
45 COL1A1 NM_000088.3(COL1A1): c.3244G> T (p.Gly1082Cys) single nucleotide variant Pathogenic rs72656303 GRCh37 Chromosome 17, 48265474: 48265474
46 COL1A1 NM_000088.3(COL1A1): c.3244G> T (p.Gly1082Cys) single nucleotide variant Pathogenic rs72656303 GRCh38 Chromosome 17, 50188113: 50188113
47 COL1A1 NM_000088.3(COL1A1): c.3271G> A (p.Gly1091Ser) single nucleotide variant Pathogenic rs72656306 GRCh37 Chromosome 17, 48265335: 48265335
48 COL1A1 NM_000088.3(COL1A1): c.3271G> A (p.Gly1091Ser) single nucleotide variant Pathogenic rs72656306 GRCh38 Chromosome 17, 50187974: 50187974
49 COL1A1 NM_000088.3(COL1A1): c.3496G> T (p.Gly1166Cys) single nucleotide variant Pathogenic rs72656324 GRCh37 Chromosome 17, 48264411: 48264411
50 COL1A1 NM_000088.3(COL1A1): c.3496G> T (p.Gly1166Cys) single nucleotide variant Pathogenic rs72656324 GRCh38 Chromosome 17, 50187050: 50187050

Expression for Osteogenesis Imperfecta, Type Ii

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

Pathways for Osteogenesis Imperfecta, Type Ii

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 COL1A1 COL1A2 CRTAP P3H1 PPIB
2
Show member pathways
11.69 CD36 COL1A1 COL1A2
3
Show member pathways
11.67 COL1A1 COL1A2 CRTAP P3H1 PPIB
4
Show member pathways
11.45 CD36 COL1A1 COL1A2
5 11.06 COL1A1 COL1A2
6 11.02 COL1A1 COL1A2
7 10.92 COL1A1 COL1A2
8 10.84 CD36 COL1A1 COL1A2
9 10.73 COL1A1 COL1A2

GO Terms for Osteogenesis Imperfecta, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.63 COL1A1 COL1A2 CRTAP FGFR3 P3H1 PPIB
2 protein-containing complex GO:0032991 9.56 CRTAP P3H1 PPIB SOX9
3 endoplasmic reticulum lumen GO:0005788 9.02 COL1A1 COL1A2 CRTAP P3H1 PPIB
4 collagen type I trimer GO:0005584 8.96 COL1A1 COL1A2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.65 COL1A1 COL1A2 SOX9
2 blood coagulation GO:0007596 9.63 CD36 COL1A1 COL1A2
3 protein stabilization GO:0050821 9.58 CRTAP P3H1 PPIB
4 cellular response to epidermal growth factor stimulus GO:0071364 9.55 COL1A1 SOX9
5 collagen fibril organization GO:0030199 9.54 COL1A1 COL1A2
6 chondrocyte differentiation GO:0002062 9.52 FGFR3 SOX9
7 positive regulation of multicellular organism growth GO:0040018 9.51 CHD7 PPIB
8 protein localization to nucleus GO:0034504 9.49 COL1A1 SOX9
9 endochondral ossification GO:0001958 9.43 COL1A1 FGFR3
10 blood vessel development GO:0001568 9.43 CHD7 COL1A1 COL1A2
11 protein heterotrimerization GO:0070208 9.37 COL1A1 COL1A2
12 skin morphogenesis GO:0043589 9.32 COL1A1 COL1A2
13 negative regulation of post-translational protein modification GO:1901874 9.16 CRTAP P3H1
14 chaperone-mediated protein folding GO:0061077 9.13 CRTAP P3H1 PPIB
15 skeletal system development GO:0001501 9.02 CHD7 COL1A1 COL1A2 FGFR3 SOX9

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL1A1 COL1A2
2 platelet-derived growth factor binding GO:0048407 8.62 COL1A1 COL1A2

Sources for Osteogenesis Imperfecta, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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