OI2
MCID: OST080
MIFTS: 56

Osteogenesis Imperfecta, Type Ii (OI2)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Ii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Ii:

Name: Osteogenesis Imperfecta, Type Ii 57 54 39
Vrolik Type of Osteogenesis Imperfecta 57 12 20 73
Osteogenesis Imperfecta Type 2 12 20 58 15
Osteogenesis Imperfecta Congenita 57 20 73
Oi, Type Ii 57 73 6
Oi2 57 12 73
Osteogenesis Imperfecta Congenita Perinatal Lethal Form 20 73
Osteogenesis Imperfecta Type Ii 12 20
Lethal Osteogenesis Imperfecta 20 58
Oi Type 2 20 58
Oic 57 73
Osteogenesis Imperfecta Congenita, Perinatal Lethal Form 57
Perinatal Lethal Osteogenesis Imperfecta Congenita 12
Osteogenesis Imperfecta Type Ii Autosomal Dominant 73
Osteogenesis Imperfecta, Dominant Perinatal Lethal 71
Osteogenesis Imperfecta Congenita; Oic 57
Osteogenesis Imperfecta Type Iia 73
Osteogenesis Imperfecta 2 73
Perinatally Lethal Oi 20
Oi Type Iia 73
Oi Type Ii 13
Oi-Iia 73
Oi-Ii 73

Characteristics:

Orphanet epidemiological data:

58
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®:

57 (Updated 05-Mar-2021)
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:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110341
OMIM® 57 166210
OMIM Phenotypic Series 57 PS166200
MeSH 44 D010013
ICD10 32 Q78.0
ICD10 via Orphanet 33 Q78.0
UMLS via Orphanet 72 C0268358
Orphanet 58 ORPHA216804
UMLS 71 C0268358

Summaries for Osteogenesis Imperfecta, Type Ii

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 216804DefinitionOsteogenesis 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 vrolik type of osteogenesis imperfecta, is related to osteogenesis imperfecta, type v and osteogenesis imperfecta, type viii. 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. Affiliated tissues include bone, eye and heart, and related phenotypes are respiratory insufficiency and congestive heart failure

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® : 57 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) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 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 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 Osteogenesis Imperfecta, Type Xxi

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

(show top 50) (show all 162)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type v 32.3 COL1A2 COL1A1 CD36
2 osteogenesis imperfecta, type viii 32.3 P3H1 CRTAP
3 osteogenesis imperfecta, type vii 32.2 PPIB P3H1 CRTAP COL1A2 COL1A1 CD36
4 osteogenesis imperfecta, type iv 31.7 PPIB P3H1 FKBP10 CRTAP COL1A2 COL1A1
5 brittle bone disorder 31.3 PPIB P3H1 FKBP10 FGFR3 CRTAP CPZ
6 otosclerosis 30.9 COL1A2 COL1A1 CD36
7 col1a1/2 osteogenesis imperfecta 30.7 COL1A2 COL1A1
8 caffey disease 30.6 COL1A2 COL1A1 CD36
9 osteoporosis 30.3 P3H1 CRTAP COL1A2 COL1A1 CD36
10 dentinogenesis imperfecta 30.2 PPIB P3H1 FKBP10 CRTAP COL1A2 COL1A1
11 osteogenesis imperfecta, type i 30.1 SPIRE2 SPIRE1 CRTAP CPZ COL1A2 COL1A1
12 ehlers-danlos syndrome 30.1 COL5A2 COL5A1 COL1A2 COL1A1 CD36 ADAMTS2
13 osteogenesis imperfecta, type iii 29.8 PPIB P3H1 FKBP10 CRTAP COL5A2 COL1A2
14 osteogenesis imperfecta congenita, microcephaly, and cataracts 11.3
15 osteogenesis imperfecta, type xiii 11.1
16 osteogenesis imperfecta, type xv 11.1
17 skeletal dysplasias 10.4
18 ehlers-danlos/osteogenesis imperfecta syndrome 10.4 COL1A2 COL1A1
19 high bone mass osteogenesis imperfecta 10.4 COL1A2 COL1A1
20 arthrochalasia ehlers-danlos syndrome 10.4 COL1A2 COL1A1
21 helix syndrome 10.4
22 ehlers-danlos syndrome, arthrochalasia type, 2 10.4 COL1A2 COL1A1
23 scleroderma, familial progressive 10.4 COL1A2 COL1A1 CD36
24 cole-carpenter syndrome 10.3 P3H1 CRTAP COL1A2
25 tibialis tendinitis 10.3 COL5A2 ADAMTS2
26 larsen-like syndrome 10.3 COL5A2 COL1A2 COL1A1
27 osteoporosis, juvenile 10.3 COL1A2 COL1A1 CD36
28 dwarfism 10.3
29 endosteal hyperostosis, autosomal dominant 10.3 CRTAP COL1A2 COL1A1
30 synovial chondromatosis 10.3 FGFR3 COL1A1
31 fibrogenesis imperfecta ossium 10.3 P3H1 CRTAP COL1A2 COL1A1
32 syndromic x-linked intellectual disability cabezas type 10.3 COL1A2 COL1A1
33 constipation 10.3
34 osteogenesis imperfecta, type ix 10.3 PPIB FGFR3 COL1A2 COL1A1
35 epicondylitis 10.3 COL5A1 COL1A1
36 pelvic organ prolapse 10.3 COL1A2 COL1A1 CD36 ADAMTS2
37 diffuse scleroderma 10.3 COL1A2 COL1A1
38 hypermobile ehlers-danlos syndrome 10.3 COL5A2 COL5A1 COL1A1
39 hypermobility syndrome 10.3 COL5A2 COL5A1 COL1A1
40 ehlers-danlos syndrome, classic type, 2 10.2 COL5A2 COL5A1 CD36
41 bone disease 10.2
42 rickets 10.2
43 ehlers-danlos syndrome, cardiac valvular type 10.2 COL1A2 COL1A1
44 achondrogenesis, type ii 10.2 SOWAHB FAM189A1 CD36
45 hypochondrogenesis 10.2 SOWAHB FAM189A1
46 classic ehlers-danlos syndrome 10.2 COL5A2 COL5A1 COL1A2 COL1A1
47 insulin-like growth factor i 10.2
48 ehlers-danlos syndrome, classic type, 1 10.2 COL5A2 COL5A1 COL1A2 COL1A1
49 familial thoracic aortic aneurysm and aortic dissection 10.2 COL5A2 COL5A1 COL1A1
50 aortic dissection 10.2 COL5A2 COL5A1 COL1A1

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
congestive heart failure

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

Prenatal Manifestations Delivery:
premature birth

Skin Nails Hair Skin:
thin skin

Chest Ribs Sternum Clavicles And Scapulae:
beaded ribs

Growth Weight:
low birth weight

Skeletal:
numerous multiple fractures present at birth

Prenatal Manifestations:
nonimmune hydrops

Skeletal Spine:
platyspondyly

Head And Neck Eyes:
blue sclerae

Skeletal Limbs:
tibial bowing
broad crumpled long bones
telescoped femur

Respiratory Lung:
pulmonary insufficiency

Head And Neck Nose:
beaked nose

Growth Height:
short limb dwarfism

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

Clinical features from OMIM®:

166210 (Updated 05-Mar-2021)

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-10 9.53 KCNE2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.53 CACNA1F
3 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.53 CACNA1F COL5A2 KCNE2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.53 CACNA1F
5 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.53 COL5A2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.53 COL5A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.53 KCNE2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.53 KCNE2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.53 CACNA1F
10 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.53 CACNA1F COL5A2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.53 CACNA1F
12 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.53 KCNE2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.53 CACNA1F

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.16 ADAMTS2 CACNA1F CD36 COL1A1 COL1A2 COL5A1
2 cardiovascular system MP:0005385 10.02 CACNA1F CD36 COL1A1 COL1A2 COL5A1 COL5A2
3 integument MP:0010771 9.85 ADAMTS2 COL1A1 COL1A2 COL5A1 COL5A2 FGFR3
4 limbs/digits/tail MP:0005371 9.5 COL1A1 COL1A2 FGFR3 FKBP10 P3H1 PPIB
5 skeleton MP:0005390 9.44 ADAMTS2 CACNA1F CD36 COL1A1 COL1A2 COL5A2

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Ii

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study to Assess the Safety and Feasibility of Repeated Infusions of Mesenchymal Stromal Cells (MSC) in Children With Osteogenesis Imperfecta Completed NCT01061099 Phase 1

Search NIH Clinical Center for Osteogenesis Imperfecta, Type Ii

Genetic Tests for Osteogenesis Imperfecta, Type Ii

Anatomical Context for Osteogenesis Imperfecta, Type Ii

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

40
Bone, Eye, Heart, Skin, Placenta, Lung, Fetal Lung

Publications for Osteogenesis Imperfecta, Type Ii

Articles related to Osteogenesis Imperfecta, Type Ii:

(show top 50) (show all 163)
# Title Authors PMID Year
1
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. 61 57 6
2298750 1990
2
Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity. 57 6 61
6702894 1984
3
Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variant. 6 57
21834035 2011
4
The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen. 6 57
1613761 1992
5
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease. 57 6
1301191 1992
6
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). 6 57
2309707 1990
7
Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta. 57 6
2777764 1989
8
A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen. 6 57
2913053 1989
9
Homozygous osteogenesis imperfecta unlinked to collagen I genes. 57 6
2894346 1988
10
Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen. 6 57
3108247 1987
11
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. 6 57
3016737 1986
12
Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild forms. 57 6
3722184 1986
13
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 61 54 57
18996919 2009
14
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. 6 61
8100209 1993
15
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. 6 54
8364588 1993
16
Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene. 61 57
2450280 1988
17
Prenatal diagnosis of osteogenesis imperfecta type II by real-time ultrasound. 61 57
6885059 1983
18
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome. 6
28261977 2017
19
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. 57
17192541 2006
20
Genetic evaluation of suspected osteogenesis imperfecta (OI). 57
16778601 2006
21
An alpha2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta. 6
9923651 1998
22
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. 6
9295084 1997
23
(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
24
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
25
Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. 57
8588588 1995
26
Perinatal lethal osteogenesis imperfecta. 57
7643358 1995
27
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. 6
7881420 1994
28
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen. 6
7959683 1994
29
Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsies. 6
7816518 1994
30
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. 6
8100856 1993
31
Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta. 6
8097422 1993
32
Incorporation of type I collagen molecules that contain a mutant alpha 2(I) chain (Gly580-->Asp) into bone matrix in a lethal case of osteogenesis imperfecta. 6
1385413 1992
33
A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta. 6
1511982 1992
34
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta. 6
1939261 1991
35
Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix. 6
1874719 1991
36
Dominant mutations in familial lethal and severe osteogenesis imperfecta. 6
1864604 1991
37
Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutation. 6
1711048 1991
38
A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR. 6
2035536 1991
39
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 6
2037280 1991
40
Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1). 6
2220807 1990
41
The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues. 6
2121988 1990
42
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent. 6
2339700 1990
43
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. 6
2794057 1989
44
A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta. 6
2500431 1989
45
A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix. 6
2914942 1989
46
A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away. 6
3198624 1988
47
Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA. 6
3403550 1988
48
Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain. 6
2839839 1988
49
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. 6
3372533 1988
50
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. 57
3260032 1988

Variations for Osteogenesis Imperfecta, Type Ii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Ii:

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.2720G>A (p.Gly907Asp) SNV Pathogenic 17239 rs121912900 7:94054475-94054475 7:94425163-94425163
2 COL1A2 COL1A2, EX33DEL Deletion Pathogenic 17240
3 COL1A2 NM_000089.3(COL1A2):c.1640G>A (p.Gly547Asp) SNV Pathogenic 17241 rs121912901 7:94043234-94043234 7:94413922-94413922
4 COL1A2 NM_000089.3(COL1A2):c.2593G>A (p.Gly865Ser) SNV Pathogenic 17242 rs121912902 7:94053675-94053675 7:94424363-94424363
5 COL1A2 COL1A2, GLY976ASP Variation Pathogenic 17245
6 COL1A2 NM_000089.3(COL1A2):c.2414G>A (p.Gly805Asp) SNV Pathogenic 17246 rs121912904 7:94052279-94052279 7:94422967-94422967
7 COL1A2 COL1A2, EX28DEL Deletion Pathogenic 17248
8 COL1A2 NM_000089.3(COL1A2):c.1414G>T (p.Gly472Cys) SNV Pathogenic 17249 rs121912906 7:94041905-94041905 7:94412593-94412593
9 COL1A2 NM_000089.4(COL1A2):c.2025+5G>A SNV Pathogenic 17252 rs72658157 7:94047869-94047869 7:94418557-94418557
10 COL1A2 NM_000089.3(COL1A2):c.2080G>C (p.Gly694Arg) SNV Pathogenic 17254 rs121912908 7:94049545-94049545 7:94420233-94420233
11 COL1A2 NM_000089.3(COL1A2):c.1739G>A (p.Gly580Asp) SNV Pathogenic 17257 rs121912909 7:94044557-94044557 7:94415245-94415245
12 COL1A2 NM_000089.3(COL1A2):c.1504G>A (p.Gly502Ser) SNV Pathogenic 17262 rs121912910 7:94042395-94042395 7:94413083-94413083
13 COL1A2 NM_000089.3(COL1A2):c.1262G>A (p.Gly421Asp) SNV Pathogenic 17281 rs267606741 7:94040378-94040378 7:94411066-94411066
14 COL1A1 NM_000088.3(COL1A1):c.824G>A (p.Gly275Asp) SNV Pathogenic 17284 rs72645333 17:48274012-48274012 17:50196651-50196651
15 COL1A1 NM_000088.3(COL1A1):c.1705G>C (p.Gly569Arg) SNV Pathogenic 17287 rs72648363 17:48271366-48271366 17:50194005-50194005
16 COL1A1 NM_000088.3(COL1A1):c.2210G>A (p.Gly737Asp) SNV Pathogenic 17289 rs72651651 17:48268769-48268769 17:50191408-50191408
17 COL1A1 NM_000088.3(COL1A1):c.2552G>A (p.Gly851Asp) SNV Pathogenic 17290 rs72653137 17:48267369-48267369 17:50190008-50190008
18 COL1A1 NM_000088.3(COL1A1):c.2605G>T (p.Gly869Cys) SNV Pathogenic 17292 rs72653143 17:48267228-48267228 17:50189867-50189867
19 COL1A1 NM_000088.3(COL1A1):c.2686G>T (p.Gly896Cys) SNV Pathogenic 17293 rs72653152 17:48266881-48266881 17:50189520-50189520
20 COL1A1 NM_000088.3(COL1A1):c.2776G>T (p.Gly926Cys) SNV Pathogenic 17294 rs72653154 17:48266791-48266791 17:50189430-50189430
21 COL1A1 NM_000088.3(COL1A1):c.3073G>A (p.Gly1025Arg) SNV Pathogenic 17297 rs72653172 17:48266129-48266129 17:50188768-50188768
22 COL1A1 NM_000088.3(COL1A1):c.3182G>A (p.Gly1061Asp) SNV Pathogenic 17298 rs72654797 17:48265916-48265916 17:50188555-50188555
23 COL1A1 NM_000088.3(COL1A1):c.3244G>T (p.Gly1082Cys) SNV Pathogenic 17299 rs72656303 17:48265474-48265474 17:50188113-50188113
24 COL1A1 NM_000088.3(COL1A1):c.3271G>A (p.Gly1091Ser) SNV Pathogenic 17300 rs72656306 17:48265335-48265335 17:50187974-50187974
25 COL1A1 NM_000088.3(COL1A1):c.3496G>T (p.Gly1166Cys) SNV Pathogenic 17301 rs72656324 17:48264411-48264411 17:50187050-50187050
26 COL1A1 NM_000088.3(COL1A1):c.3559G>A (p.Gly1187Ser) SNV Pathogenic 17302 rs72656332 17:48264256-48264256 17:50186895-50186895
27 COL1A1 COL1A1, 9-BP DEL Deletion Pathogenic 17306
28 COL1A1 COL1A1, 1-BP INS, 4088T Insertion Pathogenic 17308
29 COL1A1 NM_000088.3(COL1A1):c.2156G>A (p.Gly719Asp) SNV Pathogenic 17310 rs72651646 17:48268823-48268823 17:50191462-50191462
30 COL1A1 NM_000088.3(COL1A1):c.2444G>T (p.Gly815Val) SNV Pathogenic 17314 rs66929517 17:48267695-48267695 17:50190334-50190334
31 COL1A1 NM_000088.3(COL1A1):c.3452G>T (p.Gly1151Val) SNV Pathogenic 17318 rs72656321 17:48264455-48264455 17:50187094-50187094
32 COL1A1 NM_000088.3(COL1A1):c.1301G>T (p.Gly434Val) SNV Pathogenic 17319 rs72648333 17:48272460-48272460 17:50195099-50195099
33 COL1A1 NM_000088.3(COL1A1):c.957+5G>A SNV Pathogenic 17321 rs72645350 17:48273670-48273670 17:50196309-50196309
34 COL1A1 NM_000088.3(COL1A1):c.2939G>T (p.Gly980Val) SNV Pathogenic 17323 rs72653166 17:48266370-48266370 17:50189009-50189009
35 COL1A1 COL1A1, EX15-16DUP Duplication Pathogenic 17325
36 COL1A1 NM_000088.3(COL1A1):c.2228G>T (p.Gly743Val) SNV Pathogenic 17327 rs72651653 17:48268751-48268751 17:50191390-50191390
37 COL1A1 NM_000088.3(COL1A1):c.1598G>A (p.Gly533Asp) SNV Pathogenic 17329 rs72648356 17:48271726-48271726 17:50194365-50194365
38 COL1A1 NM_000088.3(COL1A1):c.2291G>T (p.Gly764Val) SNV Pathogenic 17338 rs72651657 17:48268230-48268230 17:50190869-50190869
39 COL1A1 COL1A1, 9-BP DUP Duplication Pathogenic 17344
40 COL1A1 NM_000088.3(COL1A1):c.4247del (p.Thr1416fs) Deletion Pathogenic 41469 rs398122835 17:48263140-48263140 17:50185779-50185779
41 COL1A1 NM_000088.3(COL1A1):c.4160C>T (p.Ala1387Val) SNV Pathogenic 41470 rs397514672 17:48263227-48263227 17:50185866-50185866
42 COL1A2 NM_000089.3(COL1A2):c.1216G>A (p.Gly406Ser) SNV Pathogenic 599144 rs72658108 7:94040219-94040219 7:94410907-94410907
43 COL1A1 NM_000088.4(COL1A1):c.1922G>T (p.Gly641Val) SNV Pathogenic 812584 rs1598293646 17:48270008-48270008 17:50192647-50192647
44 COL1A2 COL1A2, DEL 7EX, CODONS 586-765 Deletion Pathogenic 17238 7:94048198-94052613 7:94418886-94423301
45 COL1A1 NM_000088.3(COL1A1):c.1777G>A (p.Gly593Ser) SNV Pathogenic 17326 rs66527965 17:48270399-48270399 17:50193038-50193038
46 COL1A1 NM_000088.3(COL1A1):c.2533G>A (p.Gly845Arg) SNV Pathogenic 17291 rs72653136 17:48267388-48267388 17:50190027-50190027
47 COL1A1 NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) SNV Pathogenic 447141 rs67879854 17:48267939-48267939 17:50190578-50190578
48 COL1A1 NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) SNV Pathogenic 287320 rs72651642 17:48269187-48269187 17:50191826-50191826
49 COL1A1 NM_000088.3(COL1A1):c.1821+1G>A SNV Pathogenic 425580 rs66555264 17:48270354-48270354 17:50192993-50192993
50 COL1A1 NM_000088.3(COL1A1):c.1299+1G>A SNV Pathogenic 425599 rs66490707 17:48272592-48272592 17:50195231-50195231

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

73 (show top 50) (show all 121)
# Symbol AA change Variation ID SNP ID
1 COL1A1 p.Gly275Asp VAR_001649 rs72645333
2 COL1A1 p.Gly389Arg VAR_001656 rs66548636
3 COL1A1 p.Gly398Asp VAR_001658 rs66501246
4 COL1A1 p.Gly422Cys VAR_001661 rs72648328
5 COL1A1 p.Gly425Ser VAR_001662 rs72648330
6 COL1A1 p.Gly434Val VAR_001663 rs72648333
7 COL1A1 p.Gly476Arg VAR_001664 rs57377812
8 COL1A1 p.Gly530Ser VAR_001666 rs67682641
9 COL1A1 p.Gly533Asp VAR_001667 rs72648356
10 COL1A1 p.Gly560Arg VAR_001670 rs67507747
11 COL1A1 p.Gly569Arg VAR_001672 rs72648363
12 COL1A1 p.Gly593Ser VAR_001674 rs66527965
13 COL1A1 p.Gly656Ser VAR_001676 rs72651629
14 COL1A1 p.Gly719Asp VAR_001679 rs72651646
15 COL1A1 p.Gly728Arg VAR_001681 rs72651648
16 COL1A1 p.Gly737Asp VAR_001682 rs72651651
17 COL1A1 p.Gly743Ser VAR_001683 rs72651652
18 COL1A1 p.Gly743Val VAR_001684 rs72651653
19 COL1A1 p.Gly764Val VAR_001685 rs72651657
20 COL1A1 p.Gly776Ser VAR_001687 rs72651660
21 COL1A1 p.Gly809Ser VAR_001688 rs72651663
22 COL1A1 p.Gly815Val VAR_001689 rs66929517
23 COL1A1 p.Gly839Ser VAR_001692 rs72653131
24 COL1A1 p.Gly842Arg VAR_001693 rs72653134
25 COL1A1 p.Gly845Arg VAR_001694 rs72653136
26 COL1A1 p.Gly851Asp VAR_001695 rs72653137
27 COL1A1 p.Gly869Cys VAR_001696 rs72653143
28 COL1A1 p.Gly884Ser VAR_001697 rs156775560
29 COL1A1 p.Gly896Cys VAR_001698 rs72653152
30 COL1A1 p.Gly926Cys VAR_001699 rs72653154
31 COL1A1 p.Gly980Val VAR_001700 rs72653166
32 COL1A1 p.Gly1022Val VAR_001703 rs67771061
33 COL1A1 p.Gly1025Arg VAR_001704 rs72653172
34 COL1A1 p.Gly1040Ser VAR_001705 rs72653178
35 COL1A1 p.Gly1043Ser VAR_001706
36 COL1A1 p.Gly1061Asp VAR_001710 rs72654797
37 COL1A1 p.Gly1079Ser VAR_001714 rs72654802
38 COL1A1 p.Gly1082Cys VAR_001715 rs72656303
39 COL1A1 p.Gly1088Ala VAR_001716 rs72656305
40 COL1A1 p.Gly1091Ser VAR_001717 rs72656306
41 COL1A1 p.Gly1100Asp VAR_001718 rs72656308
42 COL1A1 p.Gly1106Ala VAR_001719 rs72656311
43 COL1A1 p.Gly1124Cys VAR_001720 rs72656312
44 COL1A1 p.Gly1142Ser VAR_001721 rs72656317
45 COL1A1 p.Gly1151Val VAR_001723 rs72656321
46 COL1A1 p.Gly1154Arg VAR_001724 rs72656322
47 COL1A1 p.Gly1166Cys VAR_001725 rs72656324
48 COL1A1 p.Gly1172Asp VAR_001726 rs72656325
49 COL1A1 p.Gly1181Ser VAR_001727 rs72656330
50 COL1A1 p.Gly1184Val VAR_001728 rs72656331

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 extracellular region GO:0005576 10.09 P3H1 FGFR3 CRTAP CPZ COL5A2 COL5A1
2 endoplasmic reticulum GO:0005783 9.85 ZMPSTE24 SSR1 PPIB P3H1 KCNE2 FKBP10
3 extracellular matrix GO:0031012 9.77 COL5A2 COL5A1 COL1A2 COL1A1 ADAMTS2
4 collagen-containing extracellular matrix GO:0062023 9.73 P3H1 COL5A2 COL5A1 COL1A2 COL1A1 ADAMTS2
5 collagen type V trimer GO:0005588 9.4 COL5A2 COL5A1
6 collagen trimer GO:0005581 9.35 COL5A2 COL5A1 COL1A2 COL1A1 CD36
7 collagen type I trimer GO:0005584 9.32 COL1A2 COL1A1
8 endoplasmic reticulum lumen GO:0005788 9.23 PPIB P3H1 FKBP10 CRTAP COL5A2 COL5A1

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.76 FGFR3 COL5A2 COL1A2 COL1A1
2 protein processing GO:0016485 9.75 ZMPSTE24 CPZ ADAMTS2
3 blood vessel development GO:0001568 9.72 COL5A1 COL1A2 COL1A1
4 extracellular matrix organization GO:0030198 9.72 COL5A2 COL5A1 COL1A2 COL1A1 ADAMTS2
5 cellular response to amino acid stimulus GO:0071230 9.71 COL5A2 COL1A2 COL1A1
6 cardiac conduction GO:0061337 9.7 ZMPSTE24 KCNE2 CACNA1F
7 bone mineralization GO:0030282 9.69 ZMPSTE24 FGFR3 COL1A2
8 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.63 ZMPSTE24 KCNE2
9 Golgi vesicle transport GO:0048193 9.62 SPIRE2 SPIRE1
10 positive regulation of double-strand break repair GO:2000781 9.62 SPIRE2 SPIRE1
11 actin nucleation GO:0045010 9.61 SPIRE2 SPIRE1
12 actin filament network formation GO:0051639 9.61 SPIRE2 SPIRE1
13 collagen metabolic process GO:0032963 9.6 P3H1 COL1A2
14 extracellular matrix assembly GO:0085029 9.59 FKBP10 COL1A2
15 skin morphogenesis GO:0043589 9.58 COL1A2 COL1A1
16 collagen biosynthetic process GO:0032964 9.57 COL5A1 COL1A1
17 cleavage furrow formation GO:0036089 9.56 SPIRE2 SPIRE1
18 chaperone-mediated protein folding GO:0061077 9.54 PPIB P3H1 CRTAP
19 establishment of meiotic spindle localization GO:0051295 9.49 SPIRE2 SPIRE1
20 polar body extrusion after meiotic divisions GO:0040038 9.48 SPIRE2 SPIRE1
21 formin-nucleated actin cable assembly GO:0070649 9.43 SPIRE2 SPIRE1
22 eye morphogenesis GO:0048592 9.4 COL5A2 COL5A1
23 negative regulation of endodermal cell differentiation GO:1903225 9.26 COL5A2 COL5A1
24 skin development GO:0043588 9.26 COL5A2 COL5A1 COL1A1 ADAMTS2
25 collagen fibril organization GO:0030199 9.17 FKBP10 CRTAP COL5A2 COL5A1 COL1A2 COL1A1
26 negative regulation of post-translational protein modification GO:1901874 9.16 P3H1 CRTAP

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 GO:0005201 9.46 COL5A2 COL5A1 COL1A2 COL1A1
2 collagen binding GO:0005518 9.43 PPIB P3H1 CRTAP
3 platelet-derived growth factor binding GO:0048407 9.13 COL5A1 COL1A2 COL1A1
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL5A2 COL5A1 COL1A2 COL1A1

Sources for Osteogenesis Imperfecta, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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