MCID: OST080
MIFTS: 59

Osteogenesis Imperfecta, Type Ii

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Ii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Ii:

Name: Osteogenesis Imperfecta, Type Ii 53 51
Osteogenesis Imperfecta Type 2 12 49 55 28 14
Vrolik Type of Osteogenesis Imperfecta 53 12 49 71
Osteogenesis Imperfecta Congenita 53 49 71
Oi2 53 12 71
Osteogenesis Imperfecta Congenita Perinatal Lethal Form 49 71
Osteogenesis Imperfecta Type Ii 12 49
Lethal Osteogenesis Imperfecta 49 55
Oi, Type Ii 53 71
Oi Type 2 49 55
Oic 53 71
Osteogenesis Imperfecta Congenita, Perinatal Lethal Form 53
Perinatal Lethal Osteogenesis Imperfecta Congenita 12
Osteogenesis Imperfecta Type Ii Autosomal Dominant 71
Osteogenesis Imperfecta, Dominant Perinatal Lethal 69
Osteogenesis Imperfecta Congenita; Oic 53
Osteogenesis Imperfecta Type Iia 71
Osteogenesis Imperfecta 2 71
Perinatally Lethal Oi 49
Oi Type Iia 71
Oi Type Ii 13
Oi-Iia 71
Oi-Ii 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
osteogenesis imperfecta, type ii:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Ii

UniProtKB/Swiss-Prot : 71 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.

MalaCards based summary : Osteogenesis Imperfecta, Type Ii, also known as osteogenesis imperfecta type 2, is related to osteogenesis imperfecta, type vii and osteogenesis imperfecta, type v, and has symptoms including respiratory insufficiency, platyspondyly and thin skin. 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 Degradation of the extracellular matrix. The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related phenotypes are behavior/neurological and cellular

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.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Osteogenesis imperfecta.

OMIM : 53 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)

Related Diseases for Osteogenesis Imperfecta, Type Ii

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 Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type vii 31.9 CD36 COL1A1 COL1A2 CRTAP
2 osteogenesis imperfecta, type v 31.9 CD36 COL1A1 COL1A2
3 osteogenesis imperfecta, type viii 31.7 COL1A1 COL1A2 CRTAP P3H1
4 osteogenesis imperfecta, type iv 31.3 CD36 COL1A1 COL1A2 CRTAP PPIB
5 brittle bone disorder 30.0 CD36 COL1A1 COL1A2 CRTAP FGFR3 P3H1
6 osteogenesis imperfecta congenita, microcephaly, and cataracts 12.2
7 osteogenesis imperfecta, type xiii 11.0
8 osteogenesis imperfecta, type xiv 11.0
9 osteogenesis imperfecta, type xv 11.0
10 ehlers-danlos/osteogenesis imperfecta syndrome 10.5 COL1A1 COL1A2
11 ehlers-danlos syndrome, arthrochalasia type, 1 10.4 COL1A1 COL1A2
12 high bone mass osteogenesis imperfecta 10.4 COL1A1 COL1A2
13 larsen-like syndrome 10.3 COL1A1 COL1A2
14 scleroderma, familial progressive 10.3 CD36 COL1A1 COL1A2
15 ehlers-danlos syndrome, classic type, 1 10.3 CD36 COL1A1 COL1A2
16 cervical incompetence 10.2 CRTAP P3H1
17 caffey disease 10.2 CD36 COL1A1 COL1A2
18 blood group, i system 10.2
19 spondyloepiphyseal dysplasia congenita 10.2 COL1A1 COL1A2 FGFR3
20 osteogenesis imperfecta, type vi 10.2 COL1A1 COL1A2
21 otosclerosis 10.1 CD36 COL1A1 COL1A2
22 dentinogenesis imperfecta 10.1 COL1A1 COL1A2 CRTAP P3H1
23 thalassemia 10.1
24 constipation 10.1
25 osteogenesis imperfecta, type i 10.1 CD36 COL1A1 COL1A2 FGFR3
26 pfeiffer syndrome 10.0 ALPL COL1A1 FGFR3
27 connective tissue disease 10.0 COL1A1 COL1A2 P3H1 PPIB
28 thanatophoric dysplasia, type i 9.9
29 chondrodysplasia punctata syndrome 9.9
30 hydrocephalus 9.9
31 scoliosis 9.9 CHD7 COL1A1 COL1A2 FGFR3
32 luteoma 9.9 CYP21A2 FGFR3
33 synovial chondromatosis 9.8 COL1A1 FGFR3 SOX9
34 bruck syndrome 9.7 CD36 COL1A1 COL1A2 CRTAP P3H1 PPIB
35 osteogenesis imperfecta, type iii 9.7 CD36 COL1A1 COL1A2 CRTAP P3H1 PPIB
36 osteochondrodysplasia 9.6 ALPL FGFR3 SOX9
37 osteoporosis 9.5 ALPL CD36 COL1A1 COL1A2
38 bone development disease 9.1 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

Symptoms via clinical synopsis from OMIM:

53
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 RibsSternum 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

Human phenotypes related to Osteogenesis Imperfecta, Type Ii:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 HP:0002093
2 platyspondyly 31 HP:0000926
3 thin skin 31 HP:0000963
4 congestive heart failure 31 HP:0001635
5 wormian bones 31 HP:0002645
6 recurrent fractures 31 HP:0002757
7 abnormality of pelvic girdle bone morphology 31 HP:0002644
8 disproportionate short-limb short stature 31 HP:0008873
9 convex nasal ridge 31 HP:0000444
10 broad long bones 31 HP:0005622
11 large fontanelles 31 HP:0000239
12 blue sclerae 31 HP:0000592
13 premature birth 31 HP:0001622
14 tibial bowing 31 HP:0002982
15 small for gestational age 31 HP:0001518
16 crumpled long bones 31 HP:0006367
17 pulmonary insufficiency 31 HP:0010444
18 nonimmune hydrops fetalis 31 HP:0001790
19 beaded ribs 31 HP:0000923
20 multiple prenatal fractures 31 HP:0005855
21 absent ossification of calvaria 31 HP:0005623

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Ii:

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.26 ALPL CD36 CHD7 COL1A1 COL1A2 FGFR3
2 cellular MP:0005384 10.21 ALDH3A2 ALPL CD36 CHD7 COL1A1 COL1A2
3 growth/size/body region MP:0005378 10.2 ALPL CD36 CHD7 COL1A1 COL1A2 CRTAP
4 homeostasis/metabolism MP:0005376 10.1 ALDH3A2 ALPL CD36 CHD7 COL1A1 COL1A2
5 adipose tissue MP:0005375 10.08 ALPL CD36 CHD7 COL1A1 COL1A2 P3H1
6 craniofacial MP:0005382 10.04 CHD7 COL1A1 FGFR3 PPIB SLC27A4 SOX9
7 digestive/alimentary MP:0005381 10.02 FGFR3 SLC27A4 SOX9 ALPL CD36 CHD7
8 integument MP:0010771 9.97 ALDH3A2 COL1A1 COL1A2 FGFR3 P3H1 PPIB
9 mortality/aging MP:0010768 9.96 ALPL CD36 CHD7 COL1A1 COL1A2 FGFR3
10 limbs/digits/tail MP:0005371 9.92 ALPL CHD7 COL1A1 COL1A2 FGFR3 P3H1
11 hearing/vestibular/ear MP:0005377 9.83 CHD7 COL1A1 FGFR3 P3H1 SOX9
12 muscle MP:0005369 9.7 ALPL CD36 CHD7 COL1A1 COL1A2 P3H1
13 respiratory system MP:0005388 9.43 FGFR3 SLC27A4 SOX9 ALPL CHD7 COL1A1
14 skeleton MP:0005390 9.36 ALPL CD36 CHD7 COL1A1 COL1A2 CRTAP

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Ii

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
2
Busulfan Approved, Investigational Phase 1 55-98-1 2478
3
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
4 Alkylating Agents Phase 1
5 Cyclosporins Phase 1
6 Dermatologic Agents Phase 1
7 Anti-Infective Agents Phase 1
8 Antifungal Agents Phase 1
9 Immunosuppressive Agents Phase 1
10 Antirheumatic Agents Phase 1
11 Calcineurin Inhibitors 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 28

Anatomical Context for Osteogenesis Imperfecta, Type Ii

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

38
Bone, Skin, Heart, Bone Marrow

Publications for Osteogenesis Imperfecta, Type Ii

Articles related to Osteogenesis Imperfecta, Type Ii:

(show all 16)
# Title Authors Year
1
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
2
A case of osteogenesis imperfecta type II caused by a novel COL1A2 gene mutation: endoscopic third ventriculostomy to prevent hydrocephalus. ( 22911485 )
2012
3
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
4
Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: the current state of fetal computed tomography. ( 23181495 )
2012
5
Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium. ( 22795121 )
2012
6
Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional ultrasound and computed tomography. ( 21450031 )
2011
7
The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study. ( 22375084 )
2010
8
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. ( 18996919 )
2009
9
Osteogenesis imperfecta type II: fetal magnetic resonance imaging findings. ( 18931501 )
2008
10
A case of chondrodysplasia punctata with features of osteogenesis imperfecta type II. ( 11400945 )
2001
11
Abnormalities in central nervous system development in osteogenesis imperfecta type II. ( 9949218 )
1999
12
Osteogenesis imperfecta type II: microvascular changes in the CNS. ( 7671457 )
1995
13
Caudal block in a child with osteogenesis imperfecta, type II. ( 7489444 )
1995
14
First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography. ( 8415424 )
1993
15
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. ( 8100209 )
1993
16
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:

71 (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 61)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A2 NC_000007.14: g.94418886_94423301del4416 deletion Pathogenic rs74315138 GRCh37 Chromosome 7, 94048198: 94052613
2 COL1A2 NM_000089.3(COL1A2): c.2720G> A (p.Gly907Asp) single nucleotide variant Pathogenic rs121912900 GRCh37 Chromosome 7, 94054475: 94054475
3 COL1A2 COL1A2, EX33DEL deletion Pathogenic
4 COL1A2 NM_000089.3(COL1A2): c.1640G> A (p.Gly547Asp) single nucleotide variant Pathogenic rs121912901 GRCh37 Chromosome 7, 94043234: 94043234
5 COL1A2 NM_000089.3(COL1A2): c.2593G> A (p.Gly865Ser) single nucleotide variant Pathogenic rs121912902 GRCh37 Chromosome 7, 94053675: 94053675
6 COL1A2 COL1A2, GLY976ASP undetermined variant Pathogenic
7 COL1A2 NM_000089.3(COL1A2): c.2414G> A (p.Gly805Asp) single nucleotide variant Pathogenic rs121912904 GRCh37 Chromosome 7, 94052279: 94052279
8 COL1A2 COL1A2, EX28DEL deletion Pathogenic
9 COL1A2 NM_000089.3(COL1A2): c.1414G> T (p.Gly472Cys) single nucleotide variant Pathogenic rs121912906 GRCh37 Chromosome 7, 94041905: 94041905
10 COL1A2 COL1A2, IVS33DS, G-A, +5 single nucleotide variant Pathogenic
11 COL1A2 NM_000089.3(COL1A2): c.2080G> C (p.Gly694Arg) single nucleotide variant Pathogenic rs121912908 GRCh37 Chromosome 7, 94049545: 94049545
12 COL1A2 NM_000089.3(COL1A2): c.1739G> A (p.Gly580Asp) single nucleotide variant Pathogenic rs121912909 GRCh37 Chromosome 7, 94044557: 94044557
13 COL1A2 NM_000089.3(COL1A2): c.1504G> A (p.Gly502Ser) single nucleotide variant Pathogenic rs121912910 GRCh37 Chromosome 7, 94042395: 94042395
14 COL1A2 NM_000089.3(COL1A2): c.1262G> A (p.Gly421Asp) single nucleotide variant Pathogenic rs267606741 GRCh37 Chromosome 7, 94040378: 94040378
15 COL1A1 NM_000088.3(COL1A1): c.824G> A (p.Gly275Asp) single nucleotide variant Pathogenic rs72645333 GRCh37 Chromosome 17, 48274012: 48274012
16 COL1A1 NM_000088.3(COL1A1): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs72648363 GRCh37 Chromosome 17, 48271366: 48271366
17 COL1A1 NM_000088.3(COL1A1): c.2210G> A (p.Gly737Asp) single nucleotide variant Pathogenic rs72651651 GRCh37 Chromosome 17, 48268769: 48268769
18 COL1A1 NM_000088.3(COL1A1): c.2552G> A (p.Gly851Asp) single nucleotide variant Pathogenic rs72653137 GRCh37 Chromosome 17, 48267369: 48267369
19 COL1A1 NM_000088.3(COL1A1): c.2533G> A (p.Gly845Arg) single nucleotide variant Pathogenic rs72653136 GRCh37 Chromosome 17, 48267388: 48267388
20 COL1A1 NM_000088.3(COL1A1): c.2605G> T (p.Gly869Cys) single nucleotide variant Pathogenic rs72653143 GRCh37 Chromosome 17, 48267228: 48267228
21 COL1A1 NM_000088.3(COL1A1): c.2686G> T (p.Gly896Cys) single nucleotide variant Pathogenic rs72653152 GRCh37 Chromosome 17, 48266881: 48266881
22 COL1A1 NM_000088.3(COL1A1): c.2776G> T (p.Gly926Cys) single nucleotide variant Pathogenic rs72653154 GRCh37 Chromosome 17, 48266791: 48266791
23 COL1A1 NM_000088.3(COL1A1): c.3073G> A (p.Gly1025Arg) single nucleotide variant Pathogenic rs72653172 GRCh37 Chromosome 17, 48266129: 48266129
24 COL1A1 NM_000088.3(COL1A1): c.3182G> A (p.Gly1061Asp) single nucleotide variant Pathogenic rs72654797 GRCh37 Chromosome 17, 48265916: 48265916
25 COL1A1 NM_000088.3(COL1A1): c.3244G> T (p.Gly1082Cys) single nucleotide variant Pathogenic rs72656303 GRCh37 Chromosome 17, 48265474: 48265474
26 COL1A1 NM_000088.3(COL1A1): c.3271G> A (p.Gly1091Ser) single nucleotide variant Pathogenic rs72656306 GRCh37 Chromosome 17, 48265335: 48265335
27 COL1A1 NM_000088.3(COL1A1): c.3496G> T (p.Gly1166Cys) single nucleotide variant Pathogenic rs72656324 GRCh37 Chromosome 17, 48264411: 48264411
28 COL1A1 NM_000088.3(COL1A1): c.3559G> A (p.Gly1187Ser) single nucleotide variant Pathogenic rs72656332 GRCh37 Chromosome 17, 48264256: 48264256
29 COL1A1 COL1A1, 9-BP DEL deletion Pathogenic
30 COL1A1 COL1A1, 1-BP INS, 4088T insertion Pathogenic
31 COL1A1 NM_000088.3(COL1A1): c.2156G> A (p.Gly719Asp) single nucleotide variant Pathogenic rs72651646 GRCh37 Chromosome 17, 48268823: 48268823
32 COL1A1 NM_000088.3(COL1A1): c.3541G> A (p.Gly1181Ser) single nucleotide variant Pathogenic rs72656330 GRCh37 Chromosome 17, 48264274: 48264274
33 COL1A1 NM_000088.3(COL1A1): c.2444G> T (p.Gly815Val) single nucleotide variant Pathogenic rs66929517 GRCh37 Chromosome 17, 48267695: 48267695
34 COL1A1 NM_000088.3(COL1A1): c.3452G> T (p.Gly1151Val) single nucleotide variant Pathogenic rs72656321 GRCh37 Chromosome 17, 48264455: 48264455
35 COL1A1 NM_000088.3(COL1A1): c.1301G> T (p.Gly434Val) single nucleotide variant Pathogenic rs72648333 GRCh37 Chromosome 17, 48272460: 48272460
36 COL1A1 COL1A1, IVS14DS, G-A, +5 single nucleotide variant Pathogenic
37 COL1A1 NM_000088.3(COL1A1): c.2939G> T (p.Gly980Val) single nucleotide variant Pathogenic rs72653166 GRCh37 Chromosome 17, 48266370: 48266370
38 COL1A1 COL1A1, EX15-16DUP duplication Pathogenic
39 COL1A1 NM_000088.3(COL1A1): c.1777G> A (p.Gly593Ser) single nucleotide variant Pathogenic rs66527965 GRCh37 Chromosome 17, 48270399: 48270399
40 COL1A1 NM_000088.3(COL1A1): c.2228G> T (p.Gly743Val) single nucleotide variant Pathogenic rs72651653 GRCh37 Chromosome 17, 48268751: 48268751
41 COL1A1 NM_000088.3(COL1A1): c.1598G> A (p.Gly533Asp) single nucleotide variant Pathogenic rs72648356 GRCh37 Chromosome 17, 48271726: 48271726
42 COL1A1 NM_000088.3(COL1A1): c.2291G> T (p.Gly764Val) single nucleotide variant Pathogenic rs72651657 GRCh37 Chromosome 17, 48268230: 48268230
43 COL1A1 COL1A1, 9-BP DUP duplication Pathogenic
44 COL1A1 NM_000088.3(COL1A1): c.4247delC (p.Thr1416Argfs) deletion Pathogenic rs398122835 GRCh37 Chromosome 17, 48263140: 48263140
45 COL1A1 NM_000088.3(COL1A1): c.4160C> T (p.Ala1387Val) single nucleotide variant Pathogenic rs397514672 GRCh37 Chromosome 17, 48263227: 48263227
46 COL1A1 NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter) single nucleotide variant Pathogenic rs794726873 GRCh37 Chromosome 17, 48278784: 48278784
47 COL1A1 NM_000088.3(COL1A1): c.959G> A (p.Gly320Asp) single nucleotide variant Likely pathogenic rs72645353 GRCh37 Chromosome 17, 48273559: 48273559
48 COL1A1 NM_000088.3(COL1A1): c.1767+2T> G single nucleotide variant Pathogenic rs794727394 GRCh37 Chromosome 17, 48271302: 48271302
49 COL1A2 NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu) single nucleotide variant Likely pathogenic rs768171831 GRCh37 Chromosome 7, 94055323: 94055323
50 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh38 Chromosome 7, 94426459: 94426459

Expression for Osteogenesis Imperfecta, Type Ii

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

Pathways for Osteogenesis Imperfecta, Type Ii

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 proteinaceous extracellular matrix GO:0005578 9.72 ALPL COL1A1 COL1A2 CRTAP P3H1
2 endoplasmic reticulum lumen GO:0005788 9.65 COL1A1 COL1A2 CRTAP P3H1 PPIB
3 endoplasmic reticulum GO:0005783 9.61 ALDH3A2 COL1A1 COL1A2 CRTAP CYP21A2 FGFR3
4 collagen trimer GO:0005581 9.54 CD36 COL1A1 COL1A2
5 collagen type I trimer GO:0005584 9.16 COL1A1 COL1A2
6 macromolecular complex GO:0032991 8.8 CRTAP P3H1 PPIB

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 9.67 CRTAP P3H1 PPIB
2 central nervous system development GO:0007417 9.65 ALDH3A2 CHD7 SOX9
3 protein localization to nucleus GO:0034504 9.51 COL1A1 SOX9
4 chaperone-mediated protein folding GO:0061077 9.5 CRTAP P3H1 PPIB
5 protein heterotrimerization GO:0070208 9.46 COL1A1 COL1A2
6 lung epithelial cell differentiation GO:0060487 9.43 NUMA1 SOX9
7 blood vessel development GO:0001568 9.43 CHD7 COL1A1 COL1A2
8 skin morphogenesis GO:0043589 9.4 COL1A1 COL1A2
9 long-chain fatty acid import GO:0044539 9.37 CD36 SLC27A4
10 negative regulation of post-translational protein modification GO:1901874 9.16 CRTAP P3H1
11 endochondral ossification GO:0001958 9.13 ALPL COL1A1 FGFR3
12 skeletal system development GO:0001501 9.1 ALPL 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 platelet-derived growth factor binding GO:0048407 8.96 COL1A1 COL1A2
2 protein complex binding GO:0032403 8.92 CRTAP NUMA1 P3H1 PPIB

Sources for Osteogenesis Imperfecta, Type Ii

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