OI4
MCID: OST121
MIFTS: 50

Osteogenesis Imperfecta, Type Iv (OI4)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Iv

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Iv:

Name: Osteogenesis Imperfecta, Type Iv 58 41
Osteogenesis Imperfecta Type Iv 12 54 76 74
Osteogenesis Imperfecta with Normal Sclerae 58 54 76
Osteogenesis Imperfecta Type 4 12 60 15
Oi, Type Iv 58 76 56
Oi4 58 12 76
Oi Type Iv 54 13
Oi Type 4 54 60
Osteogenesis Imperfecta with Normal Sclera 12
Common Variable Oi with Normal Sclerae 54
Osteogenesis Imperfecta 4 76
Oi-Iv 76

Characteristics:

Orphanet epidemiological data:

60
osteogenesis imperfecta type 4
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
osteogenesis imperfecta, type iv:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110340
OMIM 58 166220
MeSH 45 D010013
ICD10 34 Q78.0
MESH via Orphanet 46 C536045
ICD10 via Orphanet 35 Q78.0
UMLS via Orphanet 75 C0268363
Orphanet 60 ORPHA216820
MedGen 43 C0268363
UMLS 74 C0268363

Summaries for Osteogenesis Imperfecta, Type Iv

NIH Rare Diseases : 54 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 xiv. 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 bone and eye, 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 : 58 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)

UniProtKB/Swiss-Prot : 76 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 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 Iv via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type v 32.0 CD36 COL1A1 COL1A2 SP7
2 osteogenesis imperfecta, type xiv 32.0 TMEM38B WNT1
3 osteogenesis imperfecta, type viii 31.9 COL1A1 COL1A2 CRTAP
4 osteogenesis imperfecta, type iii 31.2 CD36 COL1A1 COL1A2 CRTAP FKBP10 PPIB
5 brittle bone disorder 28.8 CD36 COL1A1 COL1A2 CRTAP DSPP FKBP10
6 osteogenesis imperfecta, type xiii 11.2
7 osteogenesis imperfecta, type xv 11.2
8 col1a1/2-related osteogenesis imperfecta 10.5
9 ehlers-danlos/osteogenesis imperfecta syndrome 10.3 COL1A1 COL1A2
10 high bone mass osteogenesis imperfecta 10.3 COL1A1 COL1A2
11 larsen-like syndrome 10.3 COL1A1 COL1A2
12 classic ehlers-danlos syndrome 10.3 COL1A1 COL1A2
13 ehlers-danlos syndrome, classic type, 2 10.3 CD36 COL1A1
14 osteogenesis imperfecta, type i 10.2 CD36 COL1A1 COL1A2
15 prolapse of female genital organ 10.2 COL1A1 SPARC
16 osteogenesis imperfecta, type xii 10.2 FKBP10 SP7
17 scleroderma, familial progressive 10.2 CD36 COL1A1 COL1A2
18 caffey disease 10.2 CD36 COL1A1 COL1A2
19 extraosseous osteosarcoma 10.2 SP7 SPARC
20 osteogenesis imperfecta, type xi 10.1 CRTAP FKBP10
21 otosclerosis 10.1 COL1A1 COL1A2
22 osteofibrous dysplasia 10.1 CD36 SPARC
23 osteoporosis, juvenile 10.1 CD36 COL1A1 WNT1
24 spondyloepiphyseal dysplasia congenita 10.1 COL1A1 COL1A2
25 bone disease 10.0 CD36 COL1A1 SPARC
26 connective tissue disease 10.0 COL1A1 COL1A2 PPIB
27 collagen disease 10.0 COL1A1 COL1A2
28 osteogenesis imperfecta, type vi 9.9 COL1A1 SERPINF1 TMEM38B
29 dental fluorosis 9.9 COL1A2 DSPP
30 osteogenesis imperfecta, type vii 9.9 CD36 COL1A1 COL1A2 CRTAP
31 ehlers-danlos syndrome, classic type, 1 9.9 COL1A1 COL1A2 DSPP
32 osteogenesis imperfecta, type ii 9.6 CD36 COL1A1 COL1A2 CRTAP PPIB
33 bone development disease 9.6 COL1A1 COL1A2 CRTAP FKBP10 PPIB
34 osteoporosis 9.6 CD36 COL1A1 COL1A2 SP7 SPARC WNT1
35 dentinogenesis imperfecta 9.4 COL1A1 COL1A2 CRTAP DSPP FKBP10
36 bruck syndrome 9.1 CD36 COL1A1 COL1A2 CRTAP FKBP10 PPIB

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:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 blue sclerae 33 very rare (1%) HP:0000592
2 scoliosis 33 HP:0002650
3 kyphosis 33 HP:0002808
4 hearing impairment 33 HP:0000365
5 short stature 33 HP:0004322
6 dentinogenesis imperfecta 33 HP:0000703
7 wormian bones 33 HP:0002645
8 reduced bone mineral density 33 HP:0004349
9 recurrent fractures 33 HP:0002757
10 otosclerosis 33 HP:0000362
11 biconcave flattened vertebrae 33 HP:0003321
12 femoral bowing present at birth, straightening with time 33 HP:0005005
13 bowing of limbs due to multiple fractures 33 HP:0003023

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
kyphosis
biconcave flattened vertebrae

Skeletal Skull:
wormian bones

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

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

Head And Neck Teeth:
dentinogenesis imperfecta

Head And Neck Ears:
otosclerosis
hearing loss

Growth Height:
short stature, often below 5th percentile

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

Clinical features from OMIM:

166220

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iv:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 CD36 COL1A1 COL1A2 FKBP10 GGT1 PPIB
2 mortality/aging MP:0010768 9.81 CD36 COL1A1 COL1A2 FKBP10 GGT1 PPIB
3 limbs/digits/tail MP:0005371 9.8 COL1A1 COL1A2 FKBP10 GGT1 PPIB SP7
4 craniofacial MP:0005382 9.77 COL1A1 FKBP10 PPIB SPARC WNT1
5 skeleton MP:0005390 9.36 CD36 COL1A1 COL1A2 CRTAP FKBP10 GGT1
6 pigmentation MP:0001186 9.26 COL1A1 GGT1 SERPINF1 SPARC

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Iv

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804 Active, not recruiting NCT03118570 Phase 2 BPS804

Search 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:

42
Bone, Eye

Publications for Osteogenesis Imperfecta, Type Iv

Articles related to Osteogenesis Imperfecta, Type Iv:

(show all 24)
# Title Authors Year
1
A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1. ( 29344653 )
2018
2
Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene. ( 28904723 )
2017
3
Muscle Function in Osteogenesis Imperfecta Type IV. ( 28474170 )
2017
4
Clinical Application of Antenatal Genetic Diagnosis of Osteogenesis Imperfecta Type IV. ( 25835785 )
2015
5
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. ( 23548243 )
2013
6
Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome. ( 22795107 )
2012
7
Enhanced Callus Formation After Six Weeks of Parathyroid Hormone Treatment in a Man with Multiple Pelvic Fractures and Osteogenesis Imperfecta Type IV: A Case Report. ( 29252370 )
2012
8
Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings. ( 22567450 )
2011
9
Distinctive tomographic abnormalities of the craniocervical region in a patient with osteogenesis imperfecta type IV B. ( 20613943 )
2010
10
A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV. ( 19751715 )
2009
11
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation. ( 11836364 )
2002
12
Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV. ( 11793376 )
2002
13
Basilar impression complicating osteogenesis imperfecta type IV: the clinical and neuroradiological findings in four cases. ( 10084535 )
1999
14
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. ( 9600458 )
1998
15
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. ( 9367795 )
1997
16
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. ( 8786065 )
1996
17
Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N- proteinase. ( 7982948 )
1994
18
Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV. ( 1642148 )
1992
19
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. ( 2064612 )
1991
20
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. ( 2745420 )
1989
21
Biochemical analysis of callus tissue in osteogenesis imperfecta type IV. Evidence for transient overmodification in collagen types I and III. ( 2760218 )
1989
22
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. ( 2897363 )
1988
23
Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen. ( 3759085 )
1986
24
Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen. ( 3782466 )
1986

Variations for Osteogenesis Imperfecta, Type Iv

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

76 (show all 31)
# Symbol AA change Variation ID SNP ID
1 COL1A1 p.Gly353Cys VAR_001652
2 COL1A1 p.Gly356Cys VAR_001653
3 COL1A1 p.Gly383Cys VAR_001654
4 COL1A1 p.Gly398Ala VAR_001657
5 COL1A1 p.Gly401Cys VAR_001659
6 COL1A1 p.Gly527Cys VAR_001665
7 COL1A1 p.Gly530Ser VAR_001666
8 COL1A1 p.Gly560Ser VAR_001668
9 COL1A1 p.Gly560Cys VAR_001669
10 COL1A1 p.Gly593Cys VAR_001673
11 COL1A1 p.Gly701Cys VAR_001677
12 COL1A1 p.Gly1010Ser VAR_001701
13 COL1A1 p.Gly1058Ser VAR_001709
14 COL1A1 p.Gly1061Ser VAR_001711
15 COL1A1 p.Gly197Arg VAR_063293
16 COL1A1 p.Gly257Arg VAR_063297
17 COL1A1 p.Gly338Cys VAR_063303
18 COL1A1 p.Gly353Ser VAR_063306
19 COL1A1 p.Gly683Ser VAR_063320
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

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Iv:

6 (show top 50) (show all 73)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A2 NM_000089.3(COL1A2): c.2099G> A (p.Gly700Asp) single nucleotide variant Pathogenic rs72658161 GRCh37 Chromosome 7, 94049564: 94049564
2 COL1A2 NM_000089.3(COL1A2): c.2099G> A (p.Gly700Asp) single nucleotide variant Pathogenic rs72658161 GRCh38 Chromosome 7, 94420252: 94420252
3 COL1A2 NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs768171831 GRCh37 Chromosome 7, 94055323: 94055323
4 COL1A2 NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs768171831 GRCh38 Chromosome 7, 94426011: 94426011
5 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh38 Chromosome 7, 94426459: 94426459
6 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh37 Chromosome 7, 94055771: 94055771
7 COL1A2 NM_000089.3(COL1A2): c.3034G> C (p.Gly1012Arg) single nucleotide variant Pathogenic rs72659319 GRCh37 Chromosome 7, 94055771: 94055771
8 COL1A2 NM_000089.3(COL1A2): c.3034G> C (p.Gly1012Arg) single nucleotide variant Pathogenic rs72659319 GRCh38 Chromosome 7, 94426459: 94426459
9 COL1A2 NM_000089.3(COL1A2): c.1936G> T (p.Gly646Cys) single nucleotide variant Pathogenic rs121912903 GRCh37 Chromosome 7, 94047108: 94047108
10 COL1A2 NM_000089.3(COL1A2): c.1936G> T (p.Gly646Cys) single nucleotide variant Pathogenic rs121912903 GRCh38 Chromosome 7, 94417796: 94417796
11 COL1A2 COL1A2, EX26DEL deletion Pathogenic
12 COL1A2 NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val) single nucleotide variant Pathogenic rs121912907 GRCh37 Chromosome 7, 94044575: 94044575
13 COL1A2 NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val) single nucleotide variant Pathogenic rs121912907 GRCh38 Chromosome 7, 94415263: 94415263
14 COL1A2 NM_000089.3(COL1A2): c.3279_3287delTCCCCCTGG (p.Pro1100_Gly1102del) deletion Pathogenic rs74315103 GRCh37 Chromosome 7, 94056950: 94056958
15 COL1A2 NM_000089.3(COL1A2): c.3279_3287delTCCCCCTGG (p.Pro1100_Gly1102del) deletion Pathogenic rs74315103 GRCh38 Chromosome 7, 94427638: 94427646
16 COL1A2 COL1A2, IVS21DS, G-A, +5 deletion Pathogenic
17 COL1A2 COL1A2, IVS26DS, A-G, +3 single nucleotide variant Pathogenic
18 COL1A2 NM_000089.3(COL1A2): c.1136G> C (p.Gly379Ala) single nucleotide variant Pathogenic rs121912912 GRCh37 Chromosome 7, 94039778: 94039778
19 COL1A2 NM_000089.3(COL1A2): c.1136G> C (p.Gly379Ala) single nucleotide variant Pathogenic rs121912912 GRCh38 Chromosome 7, 94410466: 94410466
20 COL1A1 NM_000088.3(COL1A1): c.1057G> T (p.Gly353Cys) single nucleotide variant Pathogenic rs66721653 GRCh37 Chromosome 17, 48273026: 48273026
21 COL1A1 NM_000088.3(COL1A1): c.1057G> T (p.Gly353Cys) single nucleotide variant Pathogenic rs66721653 GRCh38 Chromosome 17, 50195665: 50195665
22 COL1A1 NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys) single nucleotide variant Pathogenic rs67368147 GRCh37 Chromosome 17, 48269166: 48269166
23 COL1A1 NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys) single nucleotide variant Pathogenic rs67368147 GRCh38 Chromosome 17, 50191805: 50191805
24 COL1A1 NM_000088.3(COL1A1): c.3028G> A (p.Gly1010Ser) single nucleotide variant Pathogenic rs72653169 GRCh37 Chromosome 17, 48266281: 48266281
25 COL1A1 NM_000088.3(COL1A1): c.3028G> A (p.Gly1010Ser) single nucleotide variant Pathogenic rs72653169 GRCh38 Chromosome 17, 50188920: 50188920
26 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh37 Chromosome 17, 48273524: 48273524
27 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh38 Chromosome 17, 50196163: 50196163
28 COL1A1 NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser) single nucleotide variant Pathogenic rs72653131 GRCh37 Chromosome 17, 48267406: 48267406
29 COL1A1 NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser) single nucleotide variant Pathogenic rs72653131 GRCh38 Chromosome 17, 50190045: 50190045
30 COL1A1 NM_000088.3(COL1A1): c.642+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 48275309: 48275309
31 COL1A1 NM_000088.3(COL1A1): c.642+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 17, 50197948: 50197948
32 COL1A1 NM_000088.3(COL1A1): c.1845_1847delGGC (p.Glu615_Ala616delinsAsp) deletion Pathogenic GRCh38 Chromosome 17, 50192825: 50192827
33 COL1A1 NM_000088.3(COL1A1): c.1845_1847delGGC (p.Glu615_Ala616delinsAsp) deletion Pathogenic GRCh37 Chromosome 17, 48270186: 48270188
34 COL1A1 NM_000088.3(COL1A1): c.1299+1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 17, 50195231: 50195231
35 COL1A1 NM_000088.3(COL1A1): c.1299+1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 17, 48272592: 48272592
36 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
37 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh38 Chromosome 17, 50198505: 50198505
38 COL1A1 NM_000088.3(COL1A1): c.2089C> T (p.Arg697Ter) single nucleotide variant Pathogenic rs72651642 GRCh37 Chromosome 17, 48269187: 48269187
39 COL1A1 NM_000088.3(COL1A1): c.2089C> T (p.Arg697Ter) single nucleotide variant Pathogenic rs72651642 GRCh38 Chromosome 17, 50191826: 50191826
40 COL1A2 NM_000089.3(COL1A2): c.2656G> A (p.Gly886Ser) single nucleotide variant Likely pathogenic rs886043796 GRCh37 Chromosome 7, 94053738: 94053738
41 COL1A2 NM_000089.3(COL1A2): c.2656G> A (p.Gly886Ser) single nucleotide variant Likely pathogenic rs886043796 GRCh38 Chromosome 7, 94424426: 94424426
42 COL1A2 NM_000089.3(COL1A2): c.794G> A (p.Gly265Asp) single nucleotide variant Pathogenic rs72656386 GRCh38 Chromosome 7, 94409323: 94409323
43 COL1A2 NM_000089.3(COL1A2): c.794G> A (p.Gly265Asp) single nucleotide variant Pathogenic rs72656386 GRCh37 Chromosome 7, 94038635: 94038635
44 COL1A2 NM_000089.3(COL1A2): c.874G> A (p.Gly292Ser) single nucleotide variant Pathogenic rs906553840 GRCh38 Chromosome 7, 94409403: 94409403
45 COL1A2 NM_000089.3(COL1A2): c.874G> A (p.Gly292Ser) single nucleotide variant Pathogenic rs906553840 GRCh37 Chromosome 7, 94038715: 94038715
46 COL1A2 NM_000089.3(COL1A2): c.1171G> A (p.Gly391Ser) single nucleotide variant Pathogenic rs67707918 GRCh38 Chromosome 7, 94410501: 94410501
47 COL1A2 NM_000089.3(COL1A2): c.1171G> A (p.Gly391Ser) single nucleotide variant Pathogenic rs67707918 GRCh37 Chromosome 7, 94039813: 94039813
48 COL1A2 NM_000089.3(COL1A2): c.1406G> C (p.Gly469Ala) single nucleotide variant Pathogenic rs72658119 GRCh38 Chromosome 7, 94412585: 94412585
49 COL1A2 NM_000089.3(COL1A2): c.1406G> C (p.Gly469Ala) single nucleotide variant Pathogenic rs72658119 GRCh37 Chromosome 7, 94041897: 94041897
50 COL1A2 NM_000089.3(COL1A2): c.2835+1G> A single nucleotide variant Pathogenic rs72659310 GRCh38 Chromosome 7, 94425664: 94425664

Expression for Osteogenesis Imperfecta, Type Iv

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

Pathways for Osteogenesis Imperfecta, Type Iv

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.43 COL1A1 COL1A2 CRTAP PPIB
2
Show member pathways
11.75 COL1A1 COL1A2 CRTAP DSPP PPIB SPARC
3
Show member pathways
11.67 CD36 COL1A1 COL1A2
4
Show member pathways
11.27 CD36 COL1A1 COL1A2 SPARC
5 11.22 COL1A1 COL1A2 SPARC
6 11.08 COL1A1 COL1A2
7 11.05 COL1A1 COL1A2
8 11.04 CD36 COL1A1 COL1A2
9 10.95 COL1A1 COL1A2
10 10.73 COL1A1 COL1A2

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 9.88 COL1A1 COL1A2 CRTAP FKBP10 PPIB TMEM38B
2 extracellular space GO:0005615 9.76 CD36 COL1A1 COL1A2 CRTAP GGT1 SERPINF1
3 extracellular matrix GO:0031012 9.62 COL1A1 COL1A2 DSPP SPARC
4 collagen-containing extracellular matrix GO:0062023 9.56 COL1A1 COL1A2 SERPINF1 SPARC
5 platelet alpha granule membrane GO:0031092 9.37 CD36 SPARC
6 endoplasmic reticulum lumen GO:0005788 9.1 COL1A1 COL1A2 CRTAP FKBP10 PPIB WNT1
7 collagen type I trimer GO:0005584 8.96 COL1A1 COL1A2

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 blood coagulation GO:0007596 9.63 CD36 COL1A1 COL1A2
2 skeletal system development GO:0001501 9.58 COL1A1 COL1A2 DSPP
3 collagen fibril organization GO:0030199 9.51 COL1A1 COL1A2
4 protein peptidyl-prolyl isomerization GO:0000413 9.49 FKBP10 PPIB
5 cellular response to dexamethasone stimulus GO:0071549 9.48 DSPP SERPINF1
6 chaperone-mediated protein folding GO:0061077 9.43 CRTAP PPIB
7 ossification GO:0001503 9.43 COL1A1 DSPP SPARC
8 negative regulation of cell-substrate adhesion GO:0010812 9.37 COL1A1 WNT1
9 protein heterotrimerization GO:0070208 9.32 COL1A1 COL1A2
10 extracellular matrix organization GO:0030198 9.26 COL1A1 COL1A2 DSPP SPARC
11 skin morphogenesis GO:0043589 9.16 COL1A1 COL1A2
12 bone development GO:0060348 8.8 PPIB SPARC WNT1

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 9.33 COL1A1 COL1A2 DSPP
2 peptidyl-prolyl cis-trans isomerase activity GO:0003755 9.32 FKBP10 PPIB
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.26 COL1A1 COL1A2
4 platelet-derived growth factor binding GO:0048407 8.96 COL1A1 COL1A2
5 collagen binding GO:0005518 8.8 DSPP PPIB SPARC

Sources for Osteogenesis Imperfecta, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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29 GO
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70 SNOMED-CT via HPO
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