MCID: OST121
MIFTS: 49

Osteogenesis Imperfecta, Type Iv

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Iv

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Iv:

Name: Osteogenesis Imperfecta, Type Iv 57 40
Osteogenesis Imperfecta Type Iv 12 53 75 73
Osteogenesis Imperfecta with Normal Sclerae 57 53 75
Osteogenesis Imperfecta Type 4 12 59 15
Oi, Type Iv 57 75 55
Oi4 57 12 75
Oi Type Iv 53 13
Oi Type 4 53 59
Osteogenesis Imperfecta with Normal Sclera 12
Common Variable Oi with Normal Sclerae 53
Osteogenesis Imperfecta 4 75
Oi-Iv 75

Characteristics:

Orphanet epidemiological data:

59
osteogenesis imperfecta type 4
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
osteogenesis imperfecta, type iv:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 166220
Disease Ontology 12 DOID:0110340
ICD10 33 Q78.0
Orphanet 59 ORPHA216820
MESH via Orphanet 45 C536045
UMLS via Orphanet 74 C0268363
ICD10 via Orphanet 34 Q78.0
MedGen 42 C0268363
MeSH 44 D010013
UMLS 73 C0268363

Summaries for Osteogenesis Imperfecta, Type Iv

NIH Rare Diseases : 53 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 xiv and osteogenesis imperfecta, type v. 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 otosclerosis and hearing impairment

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)

UniProtKB/Swiss-Prot : 75 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 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 34)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type xiv 32.1 TMEM38B WNT1
2 osteogenesis imperfecta, type v 31.9 CD36 COL1A1 COL1A2 SP7
3 osteogenesis imperfecta, type viii 31.8 COL1A1 COL1A2 CRTAP
4 osteogenesis imperfecta, type iii 29.5 CD36 COL1A1 COL1A2 CRTAP FKBP10 PPIB
5 brittle bone disorder 27.1 CD36 COL1A1 COL1A2 CRTAP DSPP FKBP10
6 osteogenesis imperfecta, type xiii 11.1
7 osteogenesis imperfecta, type xv 11.1
8 ehlers-danlos/osteogenesis imperfecta syndrome 10.7 COL1A1 COL1A2
9 high bone mass osteogenesis imperfecta 10.7 COL1A1 COL1A2
10 larsen-like syndrome 10.7 COL1A1 COL1A2
11 osteogenesis imperfecta, type xii 10.5 FKBP10 SP7
12 prolapse of female genital organ 10.5 COL1A1 SPARC
13 scleroderma, familial progressive 10.4 CD36 COL1A1 COL1A2
14 caffey disease 10.4 CD36 COL1A1 COL1A2
15 osteogenesis imperfecta, type i 10.4 CD36 COL1A1 COL1A2
16 osteoporosis, juvenile 10.4 COL1A1 WNT1
17 type i 10.3
18 osteogenesis imperfecta, type xi 10.3 CRTAP FKBP10
19 ehlers-danlos syndrome, classic type 10.2 COL1A1 COL1A2
20 bone disease 10.1 CD36 COL1A1 SPARC
21 dental fluorosis 10.1 COL1A2 DSPP
22 connective tissue disease 10.1 COL1A1 COL1A2 PPIB
23 otosclerosis 10.1 CD36 COL1A1 COL1A2 SERPINF1
24 osteofibrous dysplasia 9.9 CD36 SPARC
25 osteogenesis imperfecta, type vii 9.8 CD36 COL1A1 COL1A2 CRTAP
26 ehlers-danlos syndrome, classic type, 1 9.7 CD36 COL1A1 COL1A2 DSPP
27 amyloid tumor 9.7 PKDREJ SPARC
28 pancreatic cystadenocarcinoma 9.3 GGT1 PKDREJ
29 osteogenesis imperfecta, type ii 9.3 CD36 COL1A1 COL1A2 CRTAP PPIB
30 bone development disease 9.3 COL1A1 COL1A2 CRTAP FKBP10 PPIB
31 osteoporosis 9.2 CD36 COL1A1 COL1A2 SP7 SPARC WNT1
32 dentinogenesis imperfecta 9.1 COL1A1 COL1A2 CRTAP DSPP FKBP10
33 osteogenesis imperfecta, type vi 8.4 COL1A1 CRTAP FKBP10 PPIB SERPINF1 SP7
34 bruck syndrome 8.1 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Osteogenesis Imperfecta, Type Iv:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 otosclerosis 32 HP:0000362
2 hearing impairment 32 HP:0000365
3 blue sclerae 32 very rare (1%) HP:0000592
4 dentinogenesis imperfecta 32 HP:0000703
5 wormian bones 32 HP:0002645
6 scoliosis 32 HP:0002650
7 recurrent fractures 32 HP:0002757
8 kyphosis 32 HP:0002808
9 bowing of limbs due to multiple fractures 32 HP:0003023
10 biconcave flattened vertebrae 32 HP:0003321
11 short stature 32 HP:0004322
12 reduced bone mineral density 32 HP:0004349
13 femoral bowing present at birth, straightening with time 32 HP:0005005

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iv:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.91 COL1A1 COL1A2 FKBP10 GGT1 PPIB SP7
2 limbs/digits/tail MP:0005371 9.7 COL1A1 COL1A2 FKBP10 GGT1 PPIB SP7
3 skeleton MP:0005390 9.36 COL1A2 CRTAP FKBP10 GGT1 PPIB SERPINF1
4 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 Recruiting NCT03118570 Phase 2 BPS804;Placebo IV Infusion 5% Dextrose

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:

41
Bone, Eye

Publications for Osteogenesis Imperfecta, Type Iv

Articles related to Osteogenesis Imperfecta, Type Iv:

(show all 18)
# Title Authors Year
1
Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene. ( 28904723 )
2017
2
Muscle Function in Osteogenesis Imperfecta Type IV. ( 28474170 )
2017
3
Clinical Application of Antenatal Genetic Diagnosis of Osteogenesis Imperfecta Type IV. ( 25835785 )
2015
4
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
5
Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome. ( 22795107 )
2012
6
Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings. ( 22567450 )
2011
7
Distinctive tomographic abnormalities of the craniocervical region in a patient with osteogenesis imperfecta type IV B. ( 20613943 )
2010
8
A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV. ( 19751715 )
2009
9
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation. ( 11836364 )
2002
10
Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV. ( 11793376 )
2002
11
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
12
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
13
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
14
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
15
Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV. ( 1642148 )
1992
16
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
17
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. ( 2745420 )
1989
18
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

Variations for Osteogenesis Imperfecta, Type Iv

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

75 (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 86)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL1A2 NM_000089.3(COL1A2): c.3034G> C (p.Gly1012Arg) single nucleotide variant Pathogenic rs72659319 GRCh37 Chromosome 7, 94055771: 94055771
2 COL1A2 NM_000089.3(COL1A2): c.3034G> C (p.Gly1012Arg) single nucleotide variant Pathogenic rs72659319 GRCh38 Chromosome 7, 94426459: 94426459
3 COL1A2 NM_000089.3(COL1A2): c.1936G> T (p.Gly646Cys) single nucleotide variant Pathogenic rs121912903 GRCh37 Chromosome 7, 94047108: 94047108
4 COL1A2 NM_000089.3(COL1A2): c.1936G> T (p.Gly646Cys) single nucleotide variant Pathogenic rs121912903 GRCh38 Chromosome 7, 94417796: 94417796
5 COL1A2 COL1A2, EX26DEL deletion Pathogenic
6 COL1A2 NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val) single nucleotide variant Pathogenic rs121912907 GRCh37 Chromosome 7, 94044575: 94044575
7 COL1A2 NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val) single nucleotide variant Pathogenic rs121912907 GRCh38 Chromosome 7, 94415263: 94415263
8 COL1A2 NM_000089.3(COL1A2): c.3279_3287delTCCCCCTGG (p.Pro1100_Gly1102del) deletion Pathogenic rs74315103 GRCh38 Chromosome 7, 94427638: 94427646
9 COL1A2 NM_000089.3(COL1A2): c.3279_3287delTCCCCCTGG (p.Pro1100_Gly1102del) deletion Pathogenic rs74315103 GRCh37 Chromosome 7, 94056950: 94056958
10 COL1A2 COL1A2, IVS21DS, G-A, +5 deletion Pathogenic
11 COL1A2 COL1A2, IVS26DS, A-G, +3 single nucleotide variant Pathogenic
12 COL1A2 NM_000089.3(COL1A2): c.1136G> C (p.Gly379Ala) single nucleotide variant Pathogenic rs121912912 GRCh37 Chromosome 7, 94039778: 94039778
13 COL1A2 NM_000089.3(COL1A2): c.1136G> C (p.Gly379Ala) single nucleotide variant Pathogenic rs121912912 GRCh38 Chromosome 7, 94410466: 94410466
14 COL1A1 NM_000088.3(COL1A1): c.1057G> T (p.Gly353Cys) single nucleotide variant Pathogenic rs66721653 GRCh37 Chromosome 17, 48273026: 48273026
15 COL1A1 NM_000088.3(COL1A1): c.1057G> T (p.Gly353Cys) single nucleotide variant Pathogenic rs66721653 GRCh38 Chromosome 17, 50195665: 50195665
16 COL1A1 NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys) single nucleotide variant Pathogenic rs67368147 GRCh37 Chromosome 17, 48269166: 48269166
17 COL1A1 NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys) single nucleotide variant Pathogenic rs67368147 GRCh38 Chromosome 17, 50191805: 50191805
18 COL1A1 NM_000088.3(COL1A1): c.3028G> A (p.Gly1010Ser) single nucleotide variant Pathogenic rs72653169 GRCh37 Chromosome 17, 48266281: 48266281
19 COL1A1 NM_000088.3(COL1A1): c.3028G> A (p.Gly1010Ser) single nucleotide variant Pathogenic rs72653169 GRCh38 Chromosome 17, 50188920: 50188920
20 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh37 Chromosome 17, 48273524: 48273524
21 COL1A1 NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg) single nucleotide variant Pathogenic rs72645357 GRCh38 Chromosome 17, 50196163: 50196163
22 COL1A1 NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser) single nucleotide variant Pathogenic rs72653131 GRCh37 Chromosome 17, 48267406: 48267406
23 COL1A1 NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser) single nucleotide variant Pathogenic rs72653131 GRCh38 Chromosome 17, 50190045: 50190045
24 COL1A1 COL1A1, IVS8DS, G-A, +1 single nucleotide variant Pathogenic
25 COL1A1 COL1A1, 3-BP DEL, 1964GGC deletion Pathogenic
26 COL1A1 COL1A1, IVS19DS, G-C, +1 single nucleotide variant Pathogenic
27 COL1A1 NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter) single nucleotide variant Pathogenic rs794726873 GRCh37 Chromosome 17, 48278784: 48278784
28 COL1A1 NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter) single nucleotide variant Pathogenic rs794726873 GRCh38 Chromosome 17, 50201423: 50201423
29 COL1A2 NM_000089.3(COL1A2): c.1971+1G> A single nucleotide variant Pathogenic rs72658151 GRCh37 Chromosome 7, 94047144: 94047144
30 COL1A2 NM_000089.3(COL1A2): c.1971+1G> A single nucleotide variant Pathogenic rs72658151 GRCh38 Chromosome 7, 94417832: 94417832
31 COL1A2 NM_000089.3(COL1A2): c.2099G> A (p.Gly700Asp) single nucleotide variant Pathogenic rs72658161 GRCh37 Chromosome 7, 94049564: 94049564
32 COL1A2 NM_000089.3(COL1A2): c.2099G> A (p.Gly700Asp) single nucleotide variant Pathogenic rs72658161 GRCh38 Chromosome 7, 94420252: 94420252
33 COL1A2 NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs768171831 GRCh37 Chromosome 7, 94055323: 94055323
34 COL1A2 NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs768171831 GRCh38 Chromosome 7, 94426011: 94426011
35 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh38 Chromosome 7, 94426459: 94426459
36 COL1A2 NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser) single nucleotide variant Pathogenic/Likely pathogenic rs72659319 GRCh37 Chromosome 7, 94055771: 94055771
37 COL1A2 NM_000089.3(COL1A2): c.2738G> T (p.Gly913Val) single nucleotide variant Likely pathogenic rs886042129 GRCh37 Chromosome 7, 94054493: 94054493
38 COL1A2 NM_000089.3(COL1A2): c.2738G> T (p.Gly913Val) single nucleotide variant Likely pathogenic rs886042129 GRCh38 Chromosome 7, 94425181: 94425181
39 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
40 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh38 Chromosome 17, 50198505: 50198505
41 COL1A1 NM_000088.3(COL1A1): c.2089C> T (p.Arg697Ter) single nucleotide variant Pathogenic rs72651642 GRCh37 Chromosome 17, 48269187: 48269187
42 COL1A1 NM_000088.3(COL1A1): c.2089C> T (p.Arg697Ter) single nucleotide variant Pathogenic rs72651642 GRCh38 Chromosome 17, 50191826: 50191826
43 COL1A2 NM_000089.3(COL1A2): c.2656G> A (p.Gly886Ser) single nucleotide variant Likely pathogenic rs886043796 GRCh37 Chromosome 7, 94053738: 94053738
44 COL1A2 NM_000089.3(COL1A2): c.2656G> A (p.Gly886Ser) single nucleotide variant Likely pathogenic rs886043796 GRCh38 Chromosome 7, 94424426: 94424426
45 COL1A2 NM_000089.3(COL1A2): c.794G> A (p.Gly265Asp) single nucleotide variant Pathogenic rs72656386 GRCh38 Chromosome 7, 94409323: 94409323
46 COL1A2 NM_000089.3(COL1A2): c.794G> A (p.Gly265Asp) single nucleotide variant Pathogenic rs72656386 GRCh37 Chromosome 7, 94038635: 94038635
47 COL1A2 NM_000089.3(COL1A2): c.874G> A (p.Gly292Ser) single nucleotide variant Pathogenic rs906553840 GRCh38 Chromosome 7, 94409403: 94409403
48 COL1A2 NM_000089.3(COL1A2): c.874G> A (p.Gly292Ser) single nucleotide variant Pathogenic rs906553840 GRCh37 Chromosome 7, 94038715: 94038715
49 COL1A2 NM_000089.3(COL1A2): c.1171G> A (p.Gly391Ser) single nucleotide variant Pathogenic rs67707918 GRCh38 Chromosome 7, 94410501: 94410501
50 COL1A2 NM_000089.3(COL1A2): c.1171G> A (p.Gly391Ser) single nucleotide variant Pathogenic rs67707918 GRCh37 Chromosome 7, 94039813: 94039813

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
12.46 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 10.92 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 extracellular region GO:0005576 9.95 COL1A1 COL1A2 CRTAP DSPP SERPINF1 SPARC
2 endoplasmic reticulum GO:0005783 9.85 COL1A1 COL1A2 CRTAP FKBP10 PPIB TMEM38B
3 extracellular space GO:0005615 9.76 CD36 COL1A1 COL1A2 CRTAP GGT1 SERPINF1
4 collagen trimer GO:0005581 9.43 CD36 COL1A1 COL1A2
5 platelet alpha granule membrane GO:0031092 9.32 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 11)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.63 CD36 COL1A1 COL1A2
2 skeletal system development GO:0001501 9.61 COL1A1 COL1A2 DSPP
3 ossification GO:0001503 9.5 COL1A1 DSPP SPARC
4 collagen fibril organization GO:0030199 9.49 COL1A1 COL1A2
5 protein peptidyl-prolyl isomerization GO:0000413 9.48 FKBP10 PPIB
6 negative regulation of cell-substrate adhesion GO:0010812 9.4 COL1A1 WNT1
7 protein heterotrimerization GO:0070208 9.37 COL1A1 COL1A2
8 bone development GO:0060348 9.33 PPIB SPARC WNT1
9 skin morphogenesis GO:0043589 9.26 COL1A1 COL1A2
10 extracellular matrix organization GO:0030198 9.26 COL1A1 COL1A2 DSPP SPARC
11 chaperone-mediated protein folding GO:0061077 8.8 CRTAP FKBP10 PPIB

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

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor binding GO:0048407 9.16 COL1A1 COL1A2
2 extracellular matrix structural constituent GO:0005201 9.13 COL1A1 COL1A2 DSPP
3 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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