OI5
MCID: OST124
MIFTS: 42

Osteogenesis Imperfecta, Type V (OI5)

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 V

MalaCards integrated aliases for Osteogenesis Imperfecta, Type V:

Name: Osteogenesis Imperfecta, Type V 57 13 39
Osteogenesis Imperfecta Type 5 12 58 29 6 15
Osteogenesis Imperfecta Type V 12 20 72
Oi5 57 12 72
Oi Type 5 20 58
Oi Type V 20 72
Oi with Calcification in Interosseous Membranes 20
Osteogenesis Imperfecta 5 72
Oi, Type V 57
Type V Oi 20
Oi-V 72

Characteristics:

Orphanet epidemiological data:

58
osteogenesis imperfecta type 5
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype within and between oi5 families
highly variable degree of bone fragility, even among patients carrying the same mutation
bone anomalies may be seen on prenatal ultrasound (in some patients)


HPO:

31
osteogenesis imperfecta, type v:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110344
OMIM® 57 610967
OMIM Phenotypic Series 57 PS166200
MeSH 44 D010013
ICD10 32 Q78.0
MESH via Orphanet 45 C536046
ICD10 via Orphanet 33 Q78.0
UMLS via Orphanet 71 C1970414 C2931093
Orphanet 58 ORPHA216828

Summaries for Osteogenesis Imperfecta, Type V

OMIM® : 57 Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: 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 sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Glorieux et al. (2000) described a novel autosomal dominant form of OI, which they designated OI type V, in 7 patients. The disorder was similar to OI type IV but had distinctive clinical, histologic, and molecular characteristics. OI type V is characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation (summary by Cho et al., 2012). (610967) (Updated 20-May-2021)

MalaCards based summary : Osteogenesis Imperfecta, Type V, also known as osteogenesis imperfecta type 5, is related to dentinogenesis imperfecta and brittle bone disorder. An important gene associated with Osteogenesis Imperfecta, Type V is IFITM5 (Interferon Induced Transmembrane Protein 5), and among its related pathways/superpathways are ECM-receptor interaction and IL4-mediated signaling events. Affiliated tissues include bone and eye, and related phenotypes are joint hypermobility and dentinogenesis imperfecta

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the IFITM5 gene on chromosome 11p15.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 216828 Definition Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term). Epidemiology To date 47 cases have been reported. Etiology The causal gene for OI type V is not known Differential diagnosis A clinically similar but histologically different type of OI type V (sometimes described as OI type VI) has been described and is thought to be autosomal recessive but the causal gene is not known. Genetic counseling Transmission is thought to be autosomal dominant.

UniProtKB/Swiss-Prot : 72 Osteogenesis imperfecta 5: 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. OI5 patients manifest moderate to severe bone fragility, calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation.

Related Diseases for Osteogenesis Imperfecta, Type V

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 dentinogenesis imperfecta 30.7 IFITM5 COL1A2 COL1A1
2 brittle bone disorder 30.7 IFITM5 FKBP11 COL1A2 COL1A1 CD36
3 col1a1/2 osteogenesis imperfecta 30.4 COL1A2 COL1A1
4 osteogenic sarcoma 10.3
5 scoliosis 10.3
6 osteogenesis imperfecta, type vi 10.2 IFITM5 COL1A1
7 ehlers-danlos/osteogenesis imperfecta syndrome 10.1 COL1A2 COL1A1
8 high bone mass osteogenesis imperfecta 10.1 COL1A2 COL1A1
9 arthrochalasia ehlers-danlos syndrome 10.1 COL1A2 COL1A1
10 larsen-like syndrome 10.1 COL1A2 COL1A1
11 myositis 10.1
12 osteoporosis 10.1
13 bone mineral density quantitative trait locus 8 10.1
14 bone mineral density quantitative trait locus 15 10.1
15 sclerosteosis 10.1
16 bone disease 10.1
17 osteomyelitis 10.1
18 ankylosis 10.1
19 periosteal osteogenic sarcoma 10.1
20 myositis ossificans 10.1
21 periostitis 10.1
22 overgrowth syndrome 10.1
23 fibrogenesis imperfecta ossium 10.1 COL1A2 COL1A1
24 ehlers-danlos syndrome, arthrochalasia type, 2 10.1 COL1A2 COL1A1
25 cerebellar hypoplasia 10.1
26 diffuse scleroderma 10.1 COL1A2 COL1A1
27 syndromic x-linked intellectual disability cabezas type 10.1 COL1A2 COL1A1
28 ehlers-danlos syndrome, cardiac valvular type 10.1 COL1A2 COL1A1
29 classic ehlers-danlos syndrome 10.0 COL1A2 COL1A1
30 x-linked alport syndrome 10.0 COL1A2 COL1A1
31 spinal stenosis 10.0 COL1A2 COL1A1
32 scleroderma, familial progressive 10.0 COL1A2 COL1A1 CD36
33 osteogenesis imperfecta, type vii 10.0 COL1A2 COL1A1 CD36
34 caffey disease 10.0 COL1A2 COL1A1 CD36
35 oral submucous fibrosis 10.0 COL1A2 COL1A1
36 osteoporosis, juvenile 10.0 COL1A2 COL1A1 CD36
37 osteogenesis imperfecta, type i 10.0 COL1A2 COL1A1 CD36
38 pelvic organ prolapse 10.0 COL1A2 COL1A1 CD36
39 osteogenesis imperfecta, type ii 10.0 COL1A2 COL1A1 CD36
40 osteogenesis imperfecta, type iv 10.0 COL1A2 COL1A1 CD36
41 bone development disease 10.0 IFITM5 COL1A2 COL1A1
42 osteogenesis imperfecta, type iii 10.0 COL1A2 COL1A1 CD36
43 collagen disease 9.9 COL1A2 COL1A1
44 ehlers-danlos syndrome 9.9 COL1A2 COL1A1 CD36
45 otosclerosis 9.9 COL1A2 COL1A1 CD36
46 marfan syndrome 9.9 COL1A2 COL1A1 CD36
47 bone structure disease 9.9 COL1A2 COL1A1
48 osteochondrodysplasia 9.9 IFITM5 COL1A2 COL1A1
49 bruck syndrome 9.8 IFITM5 COL1A2 COL1A1 CD36
50 ehlers-danlos syndrome, classic type, 1 9.8 COL1A2 COL1A1

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



Diseases related to Osteogenesis Imperfecta, Type V

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type V

Human phenotypes related to Osteogenesis Imperfecta, Type V:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 joint hypermobility 31 occasional (7.5%) HP:0001382
2 dentinogenesis imperfecta 31 occasional (7.5%) HP:0000703
3 pes planus 31 very rare (1%) HP:0001763
4 blue sclerae 31 very rare (1%) HP:0000592
5 triangular face 31 very rare (1%) HP:0000325
6 hyperextensibility at elbow 31 very rare (1%) HP:0010485
7 hyperextensibility of the finger joints 31 very rare (1%) HP:0001187
8 anterior radial head dislocation 31 very rare (1%) HP:0005084
9 osteopenia 31 HP:0000938
10 abnormality of the dentition 31 HP:0000164
11 short stature 31 HP:0004322
12 abnormality of the eye 31 HP:0000478
13 platyspondyly 31 HP:0000926
14 recurrent fractures 31 HP:0002757
15 abnormality of pelvic girdle bone morphology 31 HP:0002644
16 wormian bones 31 HP:0002645
17 vertebral wedging 31 HP:0008422
18 abnormality of metabolism/homeostasis 31 HP:0001939
19 biconcave vertebral bodies 31 HP:0004586
20 hyperplastic callus formation 31 HP:0030268
21 limited pronation/supination of forearm 31 HP:0006394

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Skull:
wormian bones

Skeletal Spine:
biconcave vertebrae
wedge-shaped vertebrae
flattened vertebrae

Skeletal:
decreased bone mineral density
varying degree of multiple fractures
moderate to severe bone fragility
moderately deforming osteogenesis imperfecta
broad bands of unmineralized osteoid on transiliac biopsy (rare)
more
Growth Height:
short stature (childhood)
birth length normal

Head And Neck Eyes:
bluish sclerae (in some patients)

Laboratory Abnormalities:
elevated serum alkaline phosphatase during hyperplastic callus formation
increased urinary collagen type i n-telopeptide excretion (ntx) during hyperplastic callus formation

Skeletal Limbs:
limited pronation/supination of forearm
anterior dislocation of radial head
calcified interosseous membrane (forearms)
hyperplastic callus
metaphyseal bands adjacent to growth plate (distal femora, proximal tibiae, distal radii)
more
Head And Neck Face:
triangular facies

Head And Neck Teeth:
dentinogenesis imperfecta (rare)
prominent, irregular ridges on cutting surface of teeth (rare)

Growth Weight:
birth weight normal

Skeletal Pelvis:
irregular, meshlike matrix lamellae in the histology of the iliac crest

Clinical features from OMIM®:

610967 (Updated 20-May-2021)

Drugs & Therapeutics for Osteogenesis Imperfecta, Type V

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

Genetic Tests for Osteogenesis Imperfecta, Type V

Genetic tests related to Osteogenesis Imperfecta, Type V:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 5 29 IFITM5

Anatomical Context for Osteogenesis Imperfecta, Type V

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

40
Bone, Eye

Publications for Osteogenesis Imperfecta, Type V

Articles related to Osteogenesis Imperfecta, Type V:

(show all 47)
# Title Authors PMID Year
1
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. 61 57 6
24674092 2014
2
Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. 57 61 6
23408678 2013
3
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients. 57 6 61
23240094 2013
4
A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. 57 6 61
22863190 2012
5
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. 57 6 61
22863195 2012
6
A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation. 57 6
25251575 2015
7
A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor. 6 57
24519609 2014
8
Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. 57 6
24478195 2014
9
Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene. 57 6
23674381 2013
10
The effect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta type V. 61 57
16162424 2006
11
Genotype-phenotype study in type V osteogenesis imperfecta. 57
23612438 2013
12
Type V osteogenesis imperfecta: a new form of brittle bone disease. 57
10976985 2000
13
Genetic heterogeneity in osteogenesis imperfecta. 57
458828 1979
14
Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V. 61
33360005 2021
15
Effect of immunosuppressants on a mouse model of osteogenesis imperfecta type V harboring a heterozygous Ifitm5 c.-14C > T mutation. 61
33273604 2020
16
Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5. 61
33304945 2020
17
Late onset hyperplastic callus formation in osteogenesis imperfecta type V simulating osteosarcoma-A case report. 61
32305663 2020
18
Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V. 61
30593885 2019
19
Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments. 61
31099171 2019
20
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature. 61
30985308 2019
21
Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review. 61
31244780 2019
22
Radial head dislocation and malalignment in osteogenesis imperfecta type V: case report, pitfalls in the treatment, and review of the literature. 61
29851749 2018
23
Crispr-Cas9 engineered osteogenesis imperfecta type V leads to severe skeletal deformities and perinatal lethality in mice. 61
29174564 2018
24
[Genetic mutation and clinical features of osteogenesis imperfecta type V]. 61
29188603 2017
25
Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation. 61
28548288 2017
26
Osteogenesis imperfecta type V: Genetic and clinical findings in eleven Chinese patients. 61
27678411 2016
27
IFITM5 mutations and osteogenesis imperfecta. 61
26031935 2016
28
Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V. 61
26648832 2015
29
Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V. 61
27646918 2015
30
Non-traumatic hypertrophic callus of the fibula mimicking osteosarcoma in osteogenesis imperfecta type V: a case report. 61
24733362 2014
31
The recurrent causal mutation for osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide within the IFITM5 gene. 61
27625865 2014
32
A brilliant breakthrough in OI type V. 61
24030286 2014
33
[A male with limited movement in the forearm]. 61
24988169 2014
34
Swellings over the Limbs as the Earliest Feature in a Patient with Osteogenesis Imperfecta Type V. 61
24772361 2014
35
A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. 61
23813632 2013
36
Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients. 61
23804581 2013
37
Regulation of the bone-restricted IFITM-like (Bril) gene transcription by Sp and Gli family members and CpG methylation. 61
23530031 2013
38
Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V. 61
23977282 2013
39
Osteogenesis imperfecta type V. 61
21822652 2011
40
Sporadic osteogenesis imperfecta type V in an 11-year-old Japanese girl. 61
20721730 2010
41
Osteogenesis imperfecta type V, spot diagnosis. 61
22802766 2010
42
Hyperplastic callus formation in osteogenesis imperfecta type V: follow-up of three generations over ten years. 61
18256825 2008
43
Natural history of hyperplastic callus formation in osteogenesis imperfecta type V. 61
17451374 2007
44
Clinical and radiological manifestations of osteogenesis imperfecta type V. 61
16891817 2006
45
Hyperplastic callus formation in osteogenesis imperfecta type V mimicking osteosarcoma: 4-year follow-up with resolution. 61
16308718 2006
46
Brainstem and cerebellar hypoplasia associated with osteogenesis imperfecta type-5. 61
16679688 2006
47
Cyclic bisphosphonate therapy in osteogenesis imperfecta type V. 61
15790328 2005

Variations for Osteogenesis Imperfecta, Type V

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type V:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IFITM5 NM_001025295.3(IFITM5):c.-14C>T SNV Pathogenic 37143 rs587776916 GRCh37: 11:299504-299504
GRCh38: 11:299504-299504
2 IFITM5 NM_001025295.3(IFITM5):c.119C>T (p.Ser40Leu) SNV Pathogenic 183677 rs786201032 GRCh37: 11:299372-299372
GRCh38: 11:299372-299372
3 IFITM5 NM_001025295.3(IFITM5):c.306del (p.Leu103fs) Deletion Pathogenic 718348 rs778475442 GRCh37: 11:298594-298594
GRCh38: 11:298594-298594
4 IFITM5 NM_001025295.3(IFITM5):c.119C>G (p.Ser40Trp) SNV Likely pathogenic 689498 rs786201032 GRCh37: 11:299372-299372
GRCh38: 11:299372-299372
5 IFITM5 NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter) SNV Uncertain significance 290777 rs531009160 GRCh37: 11:299391-299391
GRCh38: 11:299391-299391
6 IFITM5 NM_001025295.3(IFITM5):c.80G>C (p.Gly27Ala) SNV Benign 193131 rs57285449 GRCh37: 11:299411-299411
GRCh38: 11:299411-299411

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

72
# Symbol AA change Variation ID SNP ID
1 IFITM5 p.Ser40Leu VAR_071889 rs786201032

Expression for Osteogenesis Imperfecta, Type V

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

Pathways for Osteogenesis Imperfecta, Type V

GO Terms for Osteogenesis Imperfecta, Type V

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

# Name GO ID Score Top Affiliating Genes
1 collagen trimer GO:0005581 9.13 COL1A2 COL1A1 CD36
2 collagen type I trimer GO:0005584 8.62 COL1A2 COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 blood vessel development GO:0001568 9.37 COL1A2 COL1A1
2 cellular response to amino acid stimulus GO:0071230 9.32 COL1A2 COL1A1
3 collagen fibril organization GO:0030199 9.26 COL1A2 COL1A1
4 bone mineralization GO:0030282 9.16 IFITM5 COL1A2
5 blood coagulation GO:0007596 9.13 COL1A2 COL1A1 CD36
6 skin morphogenesis GO:0043589 8.62 COL1A2 COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL1A2 COL1A1
2 platelet-derived growth factor binding GO:0048407 8.62 COL1A2 COL1A1

Sources for Osteogenesis Imperfecta, Type V

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