OI4
MCID: OST121
MIFTS: 48

Osteogenesis Imperfecta, Type Iv (OI4)

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 Iv

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Iv:

Name: Osteogenesis Imperfecta, Type Iv 57 39
Osteogenesis Imperfecta Type Iv 12 20 72 70
Osteogenesis Imperfecta Type 4 12 58 6 15
Osteogenesis Imperfecta with Normal Sclerae 57 20 72
Oi, Type Iv 57 72 54
Oi4 57 12 72
Oi Type Iv 20 13
Oi Type 4 20 58
Osteogenesis Imperfecta with Normal Sclera 12
Common Variable Oi with Normal Sclerae 20
Osteogenesis Imperfecta 4 72
Oi-Iv 72

Characteristics:

Orphanet epidemiological data:

58
osteogenesis imperfecta type 4
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
often identified in newborn period
fractures can occur in utero, during labor and delivery, or in newborn period
fractures occur in first few months, then decrease in frequency and then occur with ambulation
fractures decrease after puberty but increase after menopause


HPO:

31
osteogenesis imperfecta, type iv:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0110340
OMIM® 57 166220
OMIM Phenotypic Series 57 PS166200
MeSH 44 D010013
ICD10 32 Q78.0
MESH via Orphanet 45 C536045
ICD10 via Orphanet 33 Q78.0
UMLS via Orphanet 71 C0268363
Orphanet 58 ORPHA216820
MedGen 41 C0268363
UMLS 70 C0268363

Summaries for Osteogenesis Imperfecta, Type Iv

GARD : 20 Osteogenesis imperfecta type IV (OI type IV) is a type of osteogenesis imperfecta, which refers to a group of conditions that affect the bones. OI type IV is the most variable form of the condition with symptoms ranging from moderately severe to so mild that it may be difficult to make the diagnosis. Although signs and symptoms can vary, affected people may experience easily broken bones, mild short stature, dentinogenesis imperfecta, adult-onset hearing loss, and normal-to-grey sclerae (the whites of the eye). OI type IV is caused by changes ( mutations ) in the COL1A1 or COL1A2 gene and is inherited in an autosomal dominant manner. There is currently no cure for OI type IV. Treatment is supportive and based on the signs and symptoms present in each person.

MalaCards based summary : Osteogenesis Imperfecta, Type Iv, also known as osteogenesis imperfecta type iv, is related to osteogenesis imperfecta, type v and osteogenesis imperfecta, type viii. An important gene associated with Osteogenesis Imperfecta, Type Iv 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 eye and bone, and related phenotypes are blue sclerae and scoliosis

Disease Ontology : 12 An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae 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 (OI) is a connective tissue disorder that is caused by an abnormality of type I collagen in over 90% of cases. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes: OI type I with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclera (259420); and OI type IV, with normal sclerae. Levin et al. (1978) suggested that OI subtypes could be further divided into types A and B based on the absence or presence of dentinogenesis imperfecta. (166220) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Osteogenesis imperfecta 4: 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. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta.

Related Diseases for Osteogenesis Imperfecta, Type Iv

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type v 32.6 COL1A2 COL1A1 CD36
2 osteogenesis imperfecta, type viii 32.3 P3H1 CRTAP
3 osteogenesis imperfecta, type i 30.9 KANSL3 CRTAP COL1A2 COL1A1 CD36
4 ehlers-danlos syndrome, classic type, 1 30.8 DSPP COL1A2 COL1A1
5 col1a1/2 osteogenesis imperfecta 30.8 COL1A2 COL1A1
6 classic ehlers-danlos syndrome 30.8 COL1A2 COL1A1
7 ehlers-danlos syndrome 30.7 COL1A2 COL1A1 CD36
8 brittle bone disorder 30.3 WNT1 TMEM38B SPARC SP7 SERPINF1 PPIB
9 dentinogenesis imperfecta 29.8 WNT1 TMEM38B SPARC SP7 SERPINF1 PPIB
10 osteogenesis imperfecta, type iii 29.7 WNT1 SERPINF1 PPIB P3H1 KANSL3 HMSD
11 osteogenesis imperfecta, type xiii 11.2
12 osteogenesis imperfecta, type xiv 11.2
13 osteogenesis imperfecta, type xv 11.2
14 osteogenesis imperfecta, type vi 10.4 SERPINF1 COL1A1
15 ehlers-danlos/osteogenesis imperfecta syndrome 10.4 COL1A2 COL1A1
16 high bone mass osteogenesis imperfecta 10.4 COL1A2 COL1A1
17 arthrochalasia ehlers-danlos syndrome 10.4 COL1A2 COL1A1
18 larsen-like syndrome 10.4 COL1A2 COL1A1
19 ehlers-danlos syndrome, arthrochalasia type, 2 10.4 COL1A2 COL1A1
20 scleroderma, familial progressive 10.4 COL1A2 COL1A1 CD36
21 diffuse scleroderma 10.4 COL1A2 COL1A1
22 caffey disease 10.4 COL1A2 COL1A1 CD36
23 pelvic organ prolapse 10.4 COL1A2 COL1A1 CD36
24 syndromic x-linked intellectual disability cabezas type 10.4 COL1A2 COL1A1
25 myositis ossificans 10.4 SPARC COL1A1
26 ehlers-danlos syndrome, cardiac valvular type 10.4 COL1A2 COL1A1
27 extraosseous osteosarcoma 10.3 SPARC SP7
28 osteogenesis imperfecta, type xii 10.3 SP7 SERPINF1 FKBP10
29 van buchem disease 10.3 WNT1 SP7 COL1A1
30 bone resorption disease 10.3 SP7 COL1A2 COL1A1
31 bone remodeling disease 10.3 SP7 COL1A2 COL1A1
32 otosclerosis 10.3 SERPINF1 COL1A2 COL1A1 CD36
33 macular degeneration, age-related, 13 10.3 LCE1B DEFB124
34 boomerang dysplasia 10.3 P3H1 CRTAP
35 endosteal hyperostosis, autosomal dominant 10.3 SP7 CRTAP COL1A2 COL1A1
36 fibrogenesis imperfecta ossium 10.3 P3H1 CRTAP COL1A2 COL1A1
37 cole-carpenter syndrome 10.3 TMEM38B SERPINF1 CRTAP COL1A2
38 helix syndrome 10.2
39 dermatitis, atopic, 2 10.2 LCE1B DEFB124
40 alport syndrome 10.2 GGT1 COL1A2 COL1A1
41 marfan syndrome 10.2 COL1A2 COL1A1 CD36
42 osteofibrous dysplasia 10.2 SPARC CD36
43 bone disease 10.2 SPARC SP7 CRTAP COL1A1 CD36
44 melorheostosis 10.2 SPARC CD36
45 osteogenesis imperfecta, type vii 10.1 PPIB P3H1 CRTAP COL1A2 COL1A1 CD36
46 trigeminal neuralgia 10.1
47 scoliosis 10.1
48 cough headache 10.1
49 connective tissue disease 10.1 PPIB P3H1 DSPP COL1A2 COL1A1 CD36
50 osteogenesis imperfecta, type ii 10.1 PPIB P3H1 FKBP10 CRTAP COL1A2 COL1A1

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



Diseases related to Osteogenesis Imperfecta, Type Iv

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Iv

Human phenotypes related to Osteogenesis Imperfecta, Type Iv:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 blue sclerae 31 very rare (1%) HP:0000592
2 scoliosis 31 HP:0002650
3 kyphosis 31 HP:0002808
4 hearing impairment 31 HP:0000365
5 short stature 31 HP:0004322
6 reduced bone mineral density 31 HP:0004349
7 recurrent fractures 31 HP:0002757
8 wormian bones 31 HP:0002645
9 otosclerosis 31 HP:0000362
10 dentinogenesis imperfecta 31 HP:0000703
11 biconcave flattened vertebrae 31 HP:0003321
12 bowing of limbs due to multiple fractures 31 HP:0003023
13 femoral bowing present at birth, straightening with time 31 HP:0005005

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis
biconcave flattened vertebrae

Head And Neck Ears:
otosclerosis
hearing loss

Skeletal Limbs:
femoral bowing present at birth, straightening with time
bowed limbs due to multiple fractures

Growth Height:
short stature, often below 5th percentile

Skeletal Skull:
wormian bones

Head And Neck Teeth:
dentinogenesis imperfecta

Skeletal:
varying degree of multiple fractures
mild-moderate skeletal deformity

Head And Neck Eyes:
normal-greyish sclerae
pale blue sclerae (10% of the cases)

Clinical features from OMIM®:

166220 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iv:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.61 COL1A1 COL1A2 FKBP10 GGT1 P3H1 PLS3
2 skeleton MP:0005390 9.44 CD36 COL1A1 COL1A2 CRTAP FKBP10 GGT1

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Iv

Search Clinical Trials , NIH Clinical Center for Osteogenesis Imperfecta, Type Iv

Genetic Tests for Osteogenesis Imperfecta, Type Iv

Anatomical Context for Osteogenesis Imperfecta, Type Iv

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

40
Eye, Bone

Publications for Osteogenesis Imperfecta, Type Iv

Articles related to Osteogenesis Imperfecta, Type Iv:

(show top 50) (show all 84)
# Title Authors PMID Year
1
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation. 6 61 57 54
11836364 2002
2
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. 57 6 61
2745420 1989
3
Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. 6 57 61
2897363 1988
4
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV. 57 54
10942108 2000
5
Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability. 54 6
9268111 1997
6
Deletion of a Gly-Pro-Pro repeat in the pro alpha2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV. 61 6
8786065 1996
7
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method. 61 6
2064612 1991
8
Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen. 57 61
3782466 1986
9
Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen. 57 61
3759085 1986
10
Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. 57
26426884 2016
11
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 6
25944380 2015
12
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype. 6
22206639 2011
13
A new osteogenesis imperfecta with improvement over time maps to 11q. 57
18553516 2008
14
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 6
17078022 2007
15
Genetic evaluation of suspected osteogenesis imperfecta (OI). 57
16778601 2006
16
Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. 57
16434452 2006
17
High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. 6
15024692 2004
18
Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV. 57
12728084 2003
19
Osteogenesis imperfecta types I, III, and IV: effect of pamidronate therapy on bone and mineral metabolism. 57
12629073 2003
20
Modeling the benefits of pamidronate in children with osteogenesis imperfecta. 57
12417561 2002
21
The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta. 57
12417568 2002
22
Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta. 57
11970931 2002
23
Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. 57
10843163 2000
24
Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation. 6
10417276 1999
25
(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
26
The human type I collagen mutation database. 6
9016532 1997
27
Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1. 6
9007315 1996
28
Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta. 6
8829655 1996
29
Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta. 6
8829649 1996
30
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. 6
7881420 1994
31
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 6
7695699 1994
32
Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. 6
8456809 1993
33
Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta. 6
8456807 1993
34
The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen. 6
1718984 1991
35
Prenatal prediction of osteogenesis imperfecta (OI type IV): exclusion of inheritance using a collagen gene probe. 57
2886666 1987
36
The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains. 57
3722186 1986
37
Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta. 57
3006479 1986
38
Genetic heterogeneity in osteogenesis imperfecta. 57
458828 1979
39
A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of forty-two patients. 57
1117018 1975
40
Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV. 61 54
11793376 2002
41
Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation. 54 61
9367795 1997
42
Suitability of growth standards for growth monitoring in children with genetic diseases. 61
30648187 2019
43
Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation. 61
29636545 2018
44
A juvenile with compromised osteogenesis provides insights into past hunter-gatherer lives. 61
29496206 2018
45
A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1. 61
29344653 2018
46
Muscle Function in Osteogenesis Imperfecta Type IV. 61
28474170 2017
47
Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene. 61
28904723 2017
48
Recessive osteogenesis imperfecta caused by missense mutations in SPARC. 61
26027498 2015
49
Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV. 61
25835785 2015
50
Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome. 61
23548243 2013

Variations for Osteogenesis Imperfecta, Type Iv

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Iv:

6 (show top 50) (show all 85)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL1A2 NM_000089.3(COL1A2):c.1936G>T (p.Gly646Cys) SNV Pathogenic 17243 rs121912903 GRCh37: 7:94047108-94047108
GRCh38: 7:94417796-94417796
2 COL1A2 COL1A2, EX26DEL Deletion Pathogenic 17244 GRCh37:
GRCh38:
3 COL1A2 NM_000089.3(COL1A2):c.1757G>T (p.Gly586Val) SNV Pathogenic 17253 rs121912907 GRCh37: 7:94044575-94044575
GRCh38: 7:94415263-94415263
4 COL1A2 NM_000089.3(COL1A2):c.3279_3287del (p.1091_1093PPG[3]) Deletion Pathogenic 17263 rs74315103 GRCh37: 7:94056942-94056950
GRCh38: 7:94427630-94427638
5 COL1A2 COL1A2, IVS21DS, G-A, +5 Deletion Pathogenic 17264 GRCh37:
GRCh38:
6 COL1A2 COL1A2, IVS26DS, A-G, +3 SNV Pathogenic 17268 GRCh37:
GRCh38:
7 COL1A2 NM_000089.3(COL1A2):c.1136G>C (p.Gly379Ala) SNV Pathogenic 17278 rs121912912 GRCh37: 7:94039778-94039778
GRCh38: 7:94410466-94410466
8 COL1A1 NM_000088.3(COL1A1):c.1057G>T (p.Gly353Cys) SNV Pathogenic 17286 rs66721653 GRCh37: 17:48273026-48273026
GRCh38: 17:50195665-50195665
9 COL1A1 NM_000088.3(COL1A1):c.3028G>A (p.Gly1010Ser) SNV Pathogenic 17295 rs72653169 GRCh37: 17:48266281-48266281
GRCh38: 17:50188920-50188920
10 COL1A1 NM_000088.3(COL1A1):c.642+1G>A SNV Pathogenic 17341 rs67364703 GRCh37: 17:48275309-48275309
GRCh38: 17:50197948-50197948
11 COL1A1 NM_000088.3(COL1A1):c.1845_1847del (p.Glu615_Ala616delinsAsp) Deletion Pathogenic 17345 rs72651618 GRCh37: 17:48270186-48270188
GRCh38: 17:50192825-50192827
12 COL1A1 NM_000088.3(COL1A1):c.1299+1G>C SNV Pathogenic 17346 rs66490707 GRCh37: 17:48272592-48272592
GRCh38: 17:50195231-50195231
13 COL1A1 NM_000088.3(COL1A1):c.2110G>T (p.Gly704Cys) SNV Pathogenic 17288 rs67368147 GRCh37: 17:48269166-48269166
GRCh38: 17:50191805-50191805
14 COL1A1 NM_000088.3(COL1A1):c.2335G>A (p.Gly779Ser) SNV Pathogenic 425608 rs72651661 GRCh37: 17:48268186-48268186
GRCh38: 17:50190825-50190825
15 COL1A1 NM_000088.3(COL1A1):c.1057G>A (p.Gly353Ser) SNV Pathogenic 425592 rs66721653 GRCh37: 17:48273026-48273026
GRCh38: 17:50195665-50195665
16 COL1A2 NM_000089.3(COL1A2):c.1406G>C (p.Gly469Ala) SNV Pathogenic 425648 rs72658119 GRCh37: 7:94041897-94041897
GRCh38: 7:94412585-94412585
17 COL1A1 NM_000088.3(COL1A1):c.2515G>A (p.Gly839Ser) SNV Pathogenic 17331 rs72653131 GRCh37: 17:48267406-48267406
GRCh38: 17:50190045-50190045
18 COL1A1 NM_000088.3(COL1A1):c.4292C>T (p.Thr1431Ile) SNV Pathogenic 425629 rs1114167403 GRCh37: 17:48262966-48262966
GRCh38: 17:50185605-50185605
19 COL1A2 NM_000089.3(COL1A2):c.1171G>A (p.Gly391Ser) SNV Pathogenic 425645 rs67707918 GRCh37: 7:94039813-94039813
GRCh38: 7:94410501-94410501
20 COL1A1 NM_000088.3(COL1A1):c.3815G>T (p.Gly1272Val) SNV Pathogenic 425626 rs1114167402 GRCh37: 17:48263868-48263868
GRCh38: 17:50186507-50186507
21 COL1A2 NM_000089.3(COL1A2):c.794G>A (p.Gly265Asp) SNV Pathogenic 425661 rs72656386 GRCh37: 7:94038635-94038635
GRCh38: 7:94409323-94409323
22 COL1A1 NM_000088.3(COL1A1):c.3655G>A (p.Asp1219Asn) SNV Pathogenic 425622 rs72656338 GRCh37: 17:48264160-48264160
GRCh38: 17:50186799-50186799
23 COL1A1 NM_000088.3(COL1A1):c.3897C>G (p.Cys1299Trp) SNV Pathogenic 425627 rs34940368 GRCh37: 17:48263786-48263786
GRCh38: 17:50186425-50186425
24 COL1A1 NM_000088.3(COL1A1):c.1201G>A (p.Gly401Ser) SNV Pathogenic 425596 rs72648322 GRCh37: 17:48272691-48272691
GRCh38: 17:50195330-50195330
25 COL1A2 NM_000089.3(COL1A2):c.3106G>C (p.Gly1036Arg) SNV Pathogenic 425657 rs72659325 GRCh37: 7:94056320-94056320
GRCh38: 7:94427008-94427008
26 COL1A1 NM_000088.3(COL1A1):c.4239T>A (p.Asp1413Glu) SNV Pathogenic 425628 rs754555549 GRCh37: 17:48263148-48263148
GRCh38: 17:50185787-50185787
27 COL1A1 NM_000088.3(COL1A1):c.2461G>A (p.Gly821Ser) SNV Pathogenic 425610 rs67693970 GRCh37: 17:48267460-48267460
GRCh38: 17:50190099-50190099
28 COL1A2 NM_000089.3(COL1A2):c.3089G>A (p.Gly1030Asp) SNV Pathogenic 431081 rs1114167415 GRCh37: 7:94055826-94055826
GRCh38: 7:94426514-94426514
29 COL1A1 NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) SNV Pathogenic 447141 rs67879854 GRCh37: 17:48267939-48267939
GRCh38: 17:50190578-50190578
30 COL1A1 NM_000088.3(COL1A1):c.1299+1G>A SNV Pathogenic 425599 rs66490707 GRCh37: 17:48272592-48272592
GRCh38: 17:50195231-50195231
31 COL1A1 NM_000088.4(COL1A1):c.2523del (p.Gly842fs) Deletion Pathogenic 637038 rs72653133 GRCh37: 17:48267398-48267398
GRCh38: 17:50190037-50190037
32 COL1A1 NM_000088.4(COL1A1):c.727G>T (p.Glu243Ter) SNV Pathogenic 931153 GRCh37: 17:48274564-48274564
GRCh38: 17:50197203-50197203
33 COL1A1 NM_000088.4(COL1A1):c.2490del (p.Asp831fs) Deletion Pathogenic 931602 GRCh37: 17:48267431-48267431
GRCh38: 17:50190070-50190070
34 COL1A1 NM_000088.3(COL1A1):c.804+1G>C SNV Pathogenic 374149 rs1057518930 GRCh37: 17:48274370-48274370
GRCh38: 17:50197009-50197009
35 COL1A2 NM_000089.4(COL1A2):c.3305G>C (p.Gly1102Ala) SNV Pathogenic 975940 GRCh37: 7:94056976-94056976
GRCh38: 7:94427664-94427664
36 COL1A1 NM_000088.4(COL1A1):c.459del (p.Gly154fs) Deletion Pathogenic 982088 GRCh37: 17:48276599-48276599
GRCh38: 17:50199238-50199238
37 COL1A2 NM_000089.4(COL1A2):c.758G>T (p.Gly253Val) SNV Pathogenic 872907 GRCh37:
GRCh38:
38 COL1A2 NM_000089.3(COL1A2):c.2835+1G>A SNV Pathogenic 425653 rs72659310 GRCh37: 7:94054976-94054976
GRCh38: 7:94425664-94425664
39 COL1A2 NM_000089.3(COL1A2):c.874G>A (p.Gly292Ser) SNV Pathogenic 425663 rs906553840 GRCh37: 7:94038715-94038715
GRCh38: 7:94409403-94409403
40 COL1A2 NM_000089.4(COL1A2):c.3088G>A (p.Gly1030Ser) SNV Pathogenic 807555 rs1584330396 GRCh37: 7:94055825-94055825
GRCh38: 7:94426513-94426513
41 COL1A2 NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) SNV Pathogenic 216908 rs72659319 GRCh37: 7:94055771-94055771
GRCh38: 7:94426459-94426459
42 COL1A2 NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser) SNV Pathogenic 456848 rs66612022 GRCh37: 7:94039080-94039080
GRCh38: 7:94409768-94409768
43 COL1A2 NM_000089.3(COL1A2):c.1127G>T (p.Gly376Val) SNV Pathogenic 579070 rs67543427 GRCh37: 7:94039769-94039769
GRCh38: 7:94410457-94410457
44 COL1A2 NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) SNV Pathogenic 216908 rs72659319 GRCh37: 7:94055771-94055771
GRCh38: 7:94426459-94426459
45 COL1A2 NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser) SNV Pathogenic 456848 rs66612022 GRCh37: 7:94039080-94039080
GRCh38: 7:94409768-94409768
46 COL1A2 NM_000089.3(COL1A2):c.3034G>C (p.Gly1012Arg) SNV Pathogenic 17235 rs72659319 GRCh37: 7:94055771-94055771
GRCh38: 7:94426459-94426459
47 COL1A1 NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) SNV Pathogenic 287320 rs72651642 GRCh37: 17:48269187-48269187
GRCh38: 17:50191826-50191826
48 COL1A1 NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) SNV Pathogenic 17312 rs72645357 GRCh37: 17:48273524-48273524
GRCh38: 17:50196163-50196163
49 COL1A1 NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) SNV Pathogenic 17347 rs72653170 GRCh37: 17:48266269-48266269
GRCh38: 17:50188908-50188908
50 COL1A1 NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) SNV Pathogenic 287320 rs72651642 GRCh37: 17:48269187-48269187
GRCh38: 17:50191826-50191826

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

72 (show all 31)
# Symbol AA change Variation ID SNP ID
1 COL1A1 p.Gly353Cys VAR_001652 rs66721653
2 COL1A1 p.Gly356Cys VAR_001653 rs72645365
3 COL1A1 p.Gly383Cys VAR_001654 rs67182491
4 COL1A1 p.Gly398Ala VAR_001657 rs66501246
5 COL1A1 p.Gly401Cys VAR_001659 rs72648322
6 COL1A1 p.Gly527Cys VAR_001665 rs72648353
7 COL1A1 p.Gly530Ser VAR_001666 rs67682641
8 COL1A1 p.Gly560Ser VAR_001668 rs67507747
9 COL1A1 p.Gly560Cys VAR_001669 rs67507747
10 COL1A1 p.Gly593Cys VAR_001673 rs66527965
11 COL1A1 p.Gly701Cys VAR_001677 rs68114505
12 COL1A1 p.Gly1010Ser VAR_001701 rs72653169
13 COL1A1 p.Gly1058Ser VAR_001709 rs72654795
14 COL1A1 p.Gly1061Ser VAR_001711 rs72654796
15 COL1A1 p.Gly197Arg VAR_063293
16 COL1A1 p.Gly257Arg VAR_063297 rs72645321
17 COL1A1 p.Gly338Cys VAR_063303 rs66664580
18 COL1A1 p.Gly353Ser VAR_063306 rs66721653
19 COL1A1 p.Gly683Ser VAR_063320 rs72651636
20 COL1A2 p.Gly634Val VAR_001871 rs72658147
21 COL1A2 p.Gly676Val VAR_001875 rs66883877
22 COL1A2 p.Gly751Ser VAR_001881 rs72658176
23 COL1A2 p.Gly766Val VAR_001883 rs72658183
24 COL1A2 p.Gly892Asp VAR_001892 rs72659304
25 COL1A2 p.Gly1012Ser VAR_001897 rs72659319
26 COL1A2 p.Gly1102Arg VAR_001902 rs67768540
27 COL1A2 p.Gly193Ser VAR_063343 rs72656370
28 COL1A2 p.Gly202Arg VAR_063344 rs72656376
29 COL1A2 p.Gly256Val VAR_063348 rs67525025
30 COL1A2 p.Gly325Glu VAR_063351 rs72656395
31 COL1A2 p.Gly754Cys VAR_063366 rs72658177

Expression for Osteogenesis Imperfecta, Type Iv

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

Pathways for Osteogenesis Imperfecta, Type Iv

GO Terms for Osteogenesis Imperfecta, Type Iv

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.98 TMEM38B PPIB P3H1 FKBP10 CRTAP COL1A2
2 extracellular space GO:0005615 9.91 WNT1 SPARC SERPINF1 HMSD GGT1 CRTAP
3 extracellular region GO:0005576 9.85 WNT1 SPARC SERPINF1 P3H1 HMSD DSPP
4 collagen-containing extracellular matrix GO:0062023 9.72 SPARC SERPINF1 P3H1 COL1A2 COL1A1
5 collagen trimer GO:0005581 9.54 COL1A2 COL1A1 CD36
6 platelet alpha granule membrane GO:0031092 9.4 SPARC CD36
7 endoplasmic reticulum lumen GO:0005788 9.17 WNT1 PPIB P3H1 FKBP10 CRTAP COL1A2
8 collagen type I trimer GO:0005584 8.96 COL1A2 COL1A1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.76 SPARC DSPP COL1A2 COL1A1
2 skeletal system development GO:0001501 9.69 DSPP COL1A2 COL1A1
3 wound healing GO:0042060 9.65 SPARC FKBP10 COL1A1
4 ossification GO:0001503 9.56 TMEM38B SPARC DSPP COL1A1
5 chaperone-mediated protein folding GO:0061077 9.5 PPIB P3H1 CRTAP
6 negative regulation of cell-substrate adhesion GO:0010812 9.49 WNT1 COL1A1
7 collagen metabolic process GO:0032963 9.43 P3H1 COL1A2
8 extracellular matrix assembly GO:0085029 9.4 FKBP10 COL1A2
9 skin morphogenesis GO:0043589 9.37 COL1A2 COL1A1
10 collagen fibril organization GO:0030199 9.26 FKBP10 CRTAP COL1A2 COL1A1
11 negative regulation of post-translational protein modification GO:1901874 9.16 P3H1 CRTAP
12 bone development GO:0060348 9.02 WNT1 TMEM38B PPIB PLS3 P3H1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.26 SPARC DSPP COL1A2 COL1A1
2 platelet-derived growth factor binding GO:0048407 9.16 COL1A2 COL1A1
3 collagen binding GO:0005518 9.02 SPARC PPIB P3H1 DSPP CRTAP

Sources for Osteogenesis Imperfecta, Type Iv

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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