OI4
MCID: OST121
MIFTS: 48

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 56 39
Osteogenesis Imperfecta Type Iv 12 52 73 71
Osteogenesis Imperfecta with Normal Sclerae 56 52 73
Osteogenesis Imperfecta Type 4 12 58 15
Oi, Type Iv 56 73 54
Oi4 56 12 73
Oi Type Iv 52 13
Oi Type 4 52 58
Osteogenesis Imperfecta with Normal Sclera 12
Common Variable Oi with Normal Sclerae 52
Osteogenesis Imperfecta 4 73
Oi-Iv 73

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:

56
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 56 166220
OMIM Phenotypic Series 56 PS166200
MeSH 43 D010013
ICD10 32 Q78.0
MESH via Orphanet 44 C536045
ICD10 via Orphanet 33 Q78.0
UMLS via Orphanet 72 C0268363
Orphanet 58 ORPHA216820
MedGen 41 C0268363
UMLS 71 C0268363

Summaries for Osteogenesis Imperfecta, Type Iv

NIH Rare Diseases : 52 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 bone, eye and kidney, and related phenotypes are blue sclerae 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 : 56 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 : 73 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 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

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 32.9 OSBP2 COL1A2 COL1A1 CD36
2 osteogenesis imperfecta, type viii 32.7 P3H1 OSBP2 CRTAP
3 col1a1/2 osteogenesis imperfecta 31.0 COL1A2 COL1A1
4 ehlers-danlos syndrome 30.9 COL1A2 COL1A1 CD36
5 brittle bone disorder 30.3 WNT1 TMEM38B SPARC SP7 SERPINF1 PPIB
6 dentinogenesis imperfecta 29.9 TMEM38B SP7 SERPINF1 PPIB P3H1 FKBP10
7 osteogenesis imperfecta, type iii 29.3 WNT1 SLC38A5 SERPINF1 PPIB P3H1 OSBP2
8 osteogenesis imperfecta, type xiii 11.4
9 osteogenesis imperfecta, type xiv 11.4
10 osteogenesis imperfecta, type xv 11.4
11 osteogenesis imperfecta, type vii 10.6 CRTAP CD36
12 ehlers-danlos/osteogenesis imperfecta syndrome 10.6 COL1A2 COL1A1
13 high bone mass osteogenesis imperfecta 10.6 COL1A2 COL1A1
14 larsen-like syndrome 10.6 COL1A2 COL1A1
15 ehlers-danlos syndrome, arthrochalasia type, 2 10.5 COL1A2 COL1A1
16 type i ehlers-danlos syndrome 10.5 COL1A2 COL1A1
17 scleroderma, familial progressive 10.5 COL1A2 COL1A1 CD36
18 osteogenesis imperfecta, type vi 10.5 SERPINF1 COL1A2 COL1A1
19 arthrochalasia ehlers-danlos syndrome 10.5 COL1A2 COL1A1
20 caffey disease 10.5 COL1A2 COL1A1 CD36
21 pelvic organ prolapse 10.5 COL1A2 COL1A1 CD36
22 myositis ossificans 10.5 SPARC SP7 COL1A1
23 osteogenesis imperfecta, type xii 10.5 SP7 SERPINF1 FKBP10
24 classic ehlers-danlos syndrome 10.5 COL1A2 COL1A1
25 ehlers-danlos syndrome, classic type, 1 10.4 DSPP COL1A2 COL1A1
26 syndromic x-linked intellectual disability cabezas type 10.4 COL1A2 COL1A1
27 van buchem disease 10.4 WNT1 SP7 COL1A1
28 extraosseous osteosarcoma 10.4 SPARC SP7
29 osteogenesis imperfecta, type xvii 10.4 SPARC KANSL3
30 bone resorption disease 10.4 SP7 COL1A2 COL1A1
31 bone remodeling disease 10.4 SP7 COL1A2 COL1A1
32 otosclerosis 10.4 SERPINF1 COL1A2 COL1A1 CD36
33 endosteal hyperostosis, autosomal dominant 10.4 SP7 CRTAP COL1A2 COL1A1
34 diffuse scleroderma 10.4 COL1A2 COL1A1
35 fibrogenesis imperfecta ossium 10.4 SERPINF1 P3H1 CRTAP COL1A2
36 marfan syndrome 10.3 COL1A2 COL1A1 CD36
37 tooth erosion 10.3 SLC38A5 DSPP
38 osteogenesis imperfecta, type i 10.3 KANSL3 CRTAP COL1A2 COL1A1 CD36
39 boomerang dysplasia 10.3 P3H1 CRTAP
40 bone disease 10.3 SPARC SP7 COL1A1 CD36
41 melorheostosis 10.3 SPARC CD36
42 cole-carpenter syndrome 10.3 TMEM38B SERPINF1 P3H1 CRTAP COL1A2
43 helix syndrome 10.2
44 x-linked alport syndrome 10.2 COL1A2 COL1A1
45 osteoporosis, juvenile 10.2 WNT1 SPARC SP7 COL1A2 COL1A1 CD36
46 trigeminal neuralgia 10.1
47 scoliosis 10.1
48 cough headache 10.1
49 headache 10.1
50 connective tissue disease 10.1 PPIB P3H1 DSPP COL1A2 COL1A1 CD36

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 hearing impairment 31 HP:0000365
3 scoliosis 31 HP:0002650
4 kyphosis 31 HP:0002808
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:

56
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

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iv:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.76 COL1A1 COL1A2 FKBP10 GGT1 P3H1 PPIB
2 skeleton MP:0005390 9.4 CD36 COL1A1 COL1A2 CRTAP FKBP10 GGT1
3 pigmentation MP:0001186 9.35 COL1A1 GGT1 SERPINF1 SPARC TMEM79

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
Bone, Eye, Kidney

Publications for Osteogenesis Imperfecta, Type Iv

Articles related to Osteogenesis Imperfecta, Type Iv:

(show top 50) (show all 92)
# Title Authors PMID Year
1
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation. 6 56 61 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. 61 56 6
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. 61 56 6
2897363 1988
4
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. 6 56
3722186 1986
5
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV. 56 54
10942108 2000
6
Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability. 6 54
9268111 1997
7
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
8
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
9
Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen. 61 56
3782466 1986
10
Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen. 56 61
3759085 1986
11
Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. 56
26426884 2016
12
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 6
19358256 2009
13
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 6
18996919 2009
14
A new osteogenesis imperfecta with improvement over time maps to 11q. 56
18553516 2008
15
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. 6
18311573 2008
16
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
17
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 6
16879195 2006
18
Genetic evaluation of suspected osteogenesis imperfecta (OI). 56
16778601 2006
19
Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. 56
16434452 2006
20
COL1A1/2 Osteogenesis Imperfecta 6
20301472 2005
21
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 6
15241796 2004
22
High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. 6
15024692 2004
23
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 6
15024745 2004
24
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. 56
12728084 2003
25
Osteogenesis imperfecta types I, III, and IV: effect of pamidronate therapy on bone and mineral metabolism. 56
12629073 2003
26
Modeling the benefits of pamidronate in children with osteogenesis imperfecta. 56
12417561 2002
27
The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta. 56
12417568 2002
28
Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta. 56
11970931 2002
29
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 6
11317364 2001
30
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 6
11113887 2000
31
Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. 56
10843163 2000
32
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
33
(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
34
Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1. 6
9007315 1996
35
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
36
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
37
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. 6
7881420 1994
38
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 6
7942841 1994
39
Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta. 6
8456807 1993
40
Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. 6
8456809 1993
41
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
42
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 6
2037280 1991
43
Prenatal prediction of osteogenesis imperfecta (OI type IV): exclusion of inheritance using a collagen gene probe. 56
2886666 1987
44
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. 56
3006479 1986
45
Genetic heterogeneity in osteogenesis imperfecta. 56
458828 1979
46
Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. 6
1137656 1975
47
A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of forty-two patients. 56
1117018 1975
48
Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV. 61 54
11793376 2002
49
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. 61 54
9367795 1997
50
Suitability of growth standards for growth monitoring in children with genetic diseases. 61
30648187 2019

Variations for Osteogenesis Imperfecta, Type Iv

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Iv:

6 (show top 50) (show all 56) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL1A2 NM_000089.3(COL1A2):c.794G>A (p.Gly265Asp)SNV Pathogenic 425661 rs72656386 7:94038635-94038635 7:94409323-94409323
2 COL1A2 NM_000089.3(COL1A2):c.874G>A (p.Gly292Ser)SNV Pathogenic 425663 rs906553840 7:94038715-94038715 7:94409403-94409403
3 COL1A2 NM_000089.3(COL1A2):c.1171G>A (p.Gly391Ser)SNV Pathogenic 425645 rs67707918 7:94039813-94039813 7:94410501-94410501
4 COL1A2 NM_000089.3(COL1A2):c.1406G>C (p.Gly469Ala)SNV Pathogenic 425648 rs72658119 7:94041897-94041897 7:94412585-94412585
5 COL1A2 NM_000089.3(COL1A2):c.2835+1G>ASNV Pathogenic 425653 rs72659310 7:94054976-94054976 7:94425664-94425664
6 COL1A2 NM_000089.3(COL1A2):c.3106G>C (p.Gly1036Arg)SNV Pathogenic 425657 rs72659325 7:94056320-94056320 7:94427008-94427008
7 COL1A1 NM_000088.3(COL1A1):c.4292C>T (p.Thr1431Ile)SNV Pathogenic 425629 rs1114167403 17:48262966-48262966 17:50185605-50185605
8 COL1A1 NM_000088.3(COL1A1):c.3897C>G (p.Cys1299Trp)SNV Pathogenic 425627 rs34940368 17:48263786-48263786 17:50186425-50186425
9 COL1A1 NM_000088.3(COL1A1):c.3815G>T (p.Gly1272Val)SNV Pathogenic 425626 rs1114167402 17:48263868-48263868 17:50186507-50186507
10 COL1A1 NM_000088.3(COL1A1):c.3655G>A (p.Asp1219Asn)SNV Pathogenic 425622 rs72656338 17:48264160-48264160 17:50186799-50186799
11 COL1A1 NM_000088.3(COL1A1):c.2461G>A (p.Gly821Ser)SNV Pathogenic 425610 rs67693970 17:48267460-48267460 17:50190099-50190099
12 COL1A1 NM_000088.3(COL1A1):c.2335G>A (p.Gly779Ser)SNV Pathogenic 425608 rs72651661 17:48268186-48268186 17:50190825-50190825
13 COL1A1 NM_000088.3(COL1A1):c.1821+1G>ASNV Pathogenic 425580 rs66555264 17:48270354-48270354 17:50192993-50192993
14 COL1A1 NM_000088.3(COL1A1):c.1299+1G>ASNV Pathogenic 425599 rs66490707 17:48272592-48272592 17:50195231-50195231
15 COL1A1 NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter)SNV Pathogenic 425597 rs72648326 17:48272649-48272649 17:50195288-50195288
16 COL1A1 NM_000088.3(COL1A1):c.1201G>A (p.Gly401Ser)SNV Pathogenic 425596 rs72648322 17:48272691-48272691 17:50195330-50195330
17 COL1A1 NM_000088.3(COL1A1):c.1057G>A (p.Gly353Ser)SNV Pathogenic 425592 rs66721653 17:48273026-48273026 17:50195665-50195665
18 COL1A2 NM_000089.3(COL1A2):c.3089G>A (p.Gly1030Asp)SNV Pathogenic 431081 rs1114167415 7:94055826-94055826 7:94426514-94426514
19 COL1A1 NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser)SNV Pathogenic 447141 rs67879854 17:48267939-48267939 17:50190578-50190578
20 COL1A2 NM_000089.4(COL1A2):c.3088G>A (p.Gly1030Ser)SNV Pathogenic 807555 7:94055825-94055825 7:94426513-94426513
21 COL1A2 NM_000089.3(COL1A2):c.3034G>C (p.Gly1012Arg)SNV Pathogenic 17235 rs72659319 7:94055771-94055771 7:94426459-94426459
22 COL1A2 NM_000089.3(COL1A2):c.1936G>T (p.Gly646Cys)SNV Pathogenic 17243 rs121912903 7:94047108-94047108 7:94417796-94417796
23 COL1A2 COL1A2, EX26DELdeletion Pathogenic 17244
24 COL1A2 NM_000089.3(COL1A2):c.1757G>T (p.Gly586Val)SNV Pathogenic 17253 rs121912907 7:94044575-94044575 7:94415263-94415263
25 COL1A2 NM_000089.3(COL1A2):c.3279_3287del (p.1091_1093PPG[3])deletion Pathogenic 17263 rs74315103 7:94056942-94056950 7:94427630-94427638
26 COL1A2 COL1A2, IVS21DS, G-A, +5deletion Pathogenic 17264
27 COL1A2 COL1A2, IVS26DS, A-G, +3SNV Pathogenic 17268
28 COL1A2 NM_000089.3(COL1A2):c.1136G>C (p.Gly379Ala)SNV Pathogenic 17278 rs121912912 7:94039778-94039778 7:94410466-94410466
29 COL1A1 NM_000088.3(COL1A1):c.1057G>T (p.Gly353Cys)SNV Pathogenic 17286 rs66721653 17:48273026-48273026 17:50195665-50195665
30 COL1A1 NM_000088.3(COL1A1):c.2110G>T (p.Gly704Cys)SNV Pathogenic 17288 rs67368147 17:48269166-48269166 17:50191805-50191805
31 COL1A1 NM_000088.3(COL1A1):c.3028G>A (p.Gly1010Ser)SNV Pathogenic 17295 rs72653169 17:48266281-48266281 17:50188920-50188920
32 COL1A1 NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg)SNV Pathogenic 17312 rs72645357 17:48273524-48273524 17:50196163-50196163
33 COL1A1 NM_000088.3(COL1A1):c.2515G>A (p.Gly839Ser)SNV Pathogenic 17331 rs72653131 17:48267406-48267406 17:50190045-50190045
34 COL1A1 NM_000088.3(COL1A1):c.642+1G>ASNV Pathogenic 17341 rs67364703 17:48275309-48275309 17:50197948-50197948
35 COL1A1 NM_000088.3(COL1A1):c.1845_1847del (p.Glu615_Ala616delinsAsp)deletion Pathogenic 17345 rs72651618 17:48270186-48270188 17:50192825-50192827
36 COL1A1 NM_000088.3(COL1A1):c.1299+1G>CSNV Pathogenic 17346 rs66490707 17:48272592-48272592 17:50195231-50195231
37 COL1A1 NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys)SNV Pathogenic 17347 rs72653170 17:48266269-48266269 17:50188908-50188908
38 COL1A2 NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser)SNV Pathogenic 456848 rs66612022 7:94039080-94039080 7:94409768-94409768
39 COL1A2 NM_000089.3(COL1A2):c.1127G>T (p.Gly376Val)SNV Pathogenic 579070 rs67543427 7:94039769-94039769 7:94410457-94410457
40 COL1A1 NM_000088.4(COL1A1):c.2523del (p.Gly842fs)deletion Pathogenic 637038 17:48267398-48267398 17:50190037-50190037
41 COL1A1 NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter)SNV Pathogenic 287320 rs72651642 17:48269187-48269187 17:50191826-50191826
42 COL1A2 NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)SNV Pathogenic/Likely pathogenic 216908 rs72659319 7:94055771-94055771 7:94426459-94426459
43 COL1A2 NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg)SNV Pathogenic/Likely pathogenic 644457 7:94040458-94040458 7:94411146-94411146
44 COL1A1 NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg)SNV Pathogenic/Likely pathogenic 450546 rs1555574303 17:48273533-48273533 17:50196172-50196172
45 COL1A2 NM_000089.3(COL1A2):c.2405G>T (p.Gly802Val)SNV Likely pathogenic 638318 7:94052270-94052270 7:94422958-94422958
46 COL1A2 NM_000089.3(COL1A2):c.671G>A (p.Arg224His)SNV Conflicting interpretations of pathogenicity 526896 rs771139732 7:94037526-94037526 7:94408214-94408214
47 COL1A2 NM_000089.3(COL1A2):c.3047C>A (p.Pro1016His)SNV Conflicting interpretations of pathogenicity 281098 rs377278762 7:94055784-94055784 7:94426472-94426472
48 COL1A1 NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala)SNV Conflicting interpretations of pathogenicity 324102 rs767525556 17:48265485-48265485 17:50188124-50188124
49 COL1A1 NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile)SNV Conflicting interpretations of pathogenicity 324103 rs575285203 17:48265929-48265929 17:50188568-50188568
50 COL1A2 NM_000089.3(COL1A2):c.3853A>C (p.Asn1285His)SNV Conflicting interpretations of pathogenicity 373178 rs144797861 7:94058641-94058641 7:94429329-94429329

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

73 (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
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 extracellular space GO:0005615 9.97 WNT1 SPARC SERPINF1 GGT1 CRTAP COL1A2
2 extracellular region GO:0005576 9.97 WNT1 SPARC SERPINF1 P3H1 DSPP DEFB124
3 endoplasmic reticulum GO:0005783 9.86 TMEM38B SLN PPIB P3H1 FKBP10 CRTAP
4 extracellular matrix GO:0031012 9.73 SPARC DSPP COL1A2 COL1A1
5 collagen trimer GO:0005581 9.58 COL1A2 COL1A1 CD36
6 collagen-containing extracellular matrix GO:0062023 9.55 SPARC SERPINF1 P3H1 COL1A2 COL1A1
7 platelet alpha granule membrane GO:0031092 9.46 SPARC CD36
8 endoplasmic reticulum lumen GO:0005788 9.17 WNT1 PPIB P3H1 FKBP10 CRTAP COL1A2
9 collagen type I trimer GO:0005584 8.96 COL1A2 COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.71 SPARC DSPP COL1A2 COL1A1
2 collagen fibril organization GO:0030199 9.5 CRTAP COL1A2 COL1A1
3 negative regulation of cell-substrate adhesion GO:0010812 9.46 WNT1 COL1A1
4 collagen metabolic process GO:0032963 9.43 P3H1 COL1A2
5 skin morphogenesis GO:0043589 9.37 COL1A2 COL1A1
6 chaperone-mediated protein folding GO:0061077 9.33 PPIB P3H1 CRTAP
7 negative regulation of post-translational protein modification GO:1901874 9.26 P3H1 CRTAP
8 ossification GO:0001503 9.26 TMEM38B SPARC DSPP COL1A1
9 bone development GO:0060348 9.02 WNT1 TMEM38B SPARC PPIB 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
28 GO
29 GTR
30 HMDB
31 HPO
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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