OI5
MCID: OST124
MIFTS: 48

Osteogenesis Imperfecta, Type V (OI5)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type V

MalaCards integrated aliases for Osteogenesis Imperfecta, Type V:

Name: Osteogenesis Imperfecta, Type V 58 13 41
Osteogenesis Imperfecta Type 5 12 60 30 6 15
Osteogenesis Imperfecta Type V 12 54 76
Oi5 58 12 76
Oi Type 5 54 60
Oi Type V 54 76
Oi with Calcification in Interosseous Membranes 54
Osteogenesis Imperfecta 5 76
Oi, Type V 58
Type V Oi 54
Oi-V 76

Characteristics:

Orphanet epidemiological data:

60
osteogenesis imperfecta type 5
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
osteogenesis imperfecta, type v:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110344
OMIM 58 610967
MeSH 45 D010013
ICD10 34 Q78.0
MESH via Orphanet 46 C536046
ICD10 via Orphanet 35 Q78.0
UMLS via Orphanet 75 C1970414 C2931093
Orphanet 60 ORPHA216828

Summaries for Osteogenesis Imperfecta, Type V

OMIM : 58 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)

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

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

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 216828Disease definitionOsteogenesis 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).EpidemiologyTo date 47 cases have been reported.EtiologyThe causal gene for OI type V is not knownDifferential diagnosisA 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 counselingTransmission is thought to be autosomal dominant.Visit the Orphanet disease page for more resources.

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 brittle bone disorder 30.7 CD36 COL1A1 COL1A2 IBSP IFITM5
2 osteoporosis 29.1 CD36 COL1A1 COL1A2 FDPS IBSP SP7
3 col1a1/2-related osteogenesis imperfecta 10.8
4 osteogenesis imperfecta, type vi 10.3 COL1A1 IFITM5
5 ehlers-danlos/osteogenesis imperfecta syndrome 10.3 COL1A1 COL1A2
6 ehlers-danlos syndrome, classic type, 2 10.3 CD36 COL1A1
7 high bone mass osteogenesis imperfecta 10.3 COL1A1 COL1A2
8 larsen-like syndrome 10.3 COL1A1 COL1A2
9 osteogenesis imperfecta, type viii 10.3 COL1A1 COL1A2
10 classic ehlers-danlos syndrome 10.2 COL1A1 COL1A2
11 osteoporosis, juvenile 10.2 CD36 COL1A1
12 ehlers-danlos syndrome, classic type, 1 10.2 COL1A1 COL1A2
13 osteogenesis imperfecta, type i 10.2 CD36 COL1A1 COL1A2
14 osteogenesis imperfecta, type vii 10.1 CD36 COL1A1 COL1A2
15 scleroderma, familial progressive 10.1 CD36 COL1A1 COL1A2
16 dentinogenesis imperfecta 10.1 COL1A1 COL1A2 IFITM5
17 caffey disease 10.1 CD36 COL1A1 COL1A2
18 otosclerosis 10.1 COL1A1 COL1A2
19 osteogenesis imperfecta, type iii 10.1 CD36 COL1A1 COL1A2
20 osteogenesis imperfecta, type ii 10.1 CD36 COL1A1 COL1A2
21 adult fibrosarcoma 10.1 COL1A1 FDPS
22 spondyloepiphyseal dysplasia congenita 10.1 COL1A1 COL1A2 IHH
23 collagen disease 10.0 COL1A1 COL1A2
24 ischemic bone disease 10.0 FDPS SP7
25 focal epithelial hyperplasia 10.0 GLI2 IHH
26 bruck syndrome 10.0 CD36 COL1A1 COL1A2 IFITM5
27 osteogenesis imperfecta, type iv 10.0 CD36 COL1A1 COL1A2 SP7
28 bone development disease 9.9 COL1A1 COL1A2 IFITM5 IHH
29 bone resorption disease 9.9 COL1A1 IBSP SP7
30 bone disease 9.9 CD36 COL1A1 IBSP
31 connective tissue disease 9.9 COL1A1 COL1A2 IBSP
32 ankylosis 9.7 IBSP SP7

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:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 dentinogenesis imperfecta 33 occasional (7.5%) HP:0000703
2 joint hypermobility 33 occasional (7.5%) HP:0001382
3 blue sclerae 33 occasional (7.5%) HP:0000592
4 osteopenia 33 HP:0000938
5 abnormality of the dentition 33 HP:0000164
6 short stature 33 HP:0004322
7 abnormality of the eye 33 HP:0000478
8 abnormality of metabolism/homeostasis 33 HP:0001939
9 platyspondyly 33 HP:0000926
10 wormian bones 33 HP:0002645
11 recurrent fractures 33 HP:0002757
12 abnormality of pelvic girdle bone morphology 33 HP:0002644
13 limited pronation/supination of forearm 33 HP:0006394
14 vertebral wedging 33 HP:0008422
15 triangular face 33 HP:0000325
16 biconcave vertebral bodies 33 HP:0004586
17 anterior radial head dislocation 33 HP:0005084
18 hyperplastic callus formation 33 HP:0030268

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type V:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 CD36 COL1A1 COL1A2 GLI2 IFITM5 IHH
2 growth/size/body region MP:0005378 9.86 CD36 COL1A1 COL1A2 GLI2 IBSP IFITM5
3 craniofacial MP:0005382 9.72 COL1A1 GLI2 IBSP IFITM5 IHH
4 limbs/digits/tail MP:0005371 9.7 COL1A1 COL1A2 GLI2 IBSP IFITM5 IHH
5 mortality/aging MP:0010768 9.61 CD36 COL1A1 COL1A2 GGPS1 GLI2 IFITM5
6 skeleton MP:0005390 9.23 CD36 COL1A1 COL1A2 GLI2 IBSP IFITM5

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 30 IFITM5

Anatomical Context for Osteogenesis Imperfecta, Type V

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

42
Bone, Eye

Publications for Osteogenesis Imperfecta, Type V

Articles related to Osteogenesis Imperfecta, Type V:

(show all 33)
# Title Authors Year
1
Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments. ( 31099171 )
2019
2
Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V. ( 30593885 )
2018
3
Crispr-Cas9 engineered osteogenesis imperfecta type V leads to severe skeletal deformities and perinatal lethality in mice. ( 29174564 )
2018
4
Radial head dislocation and malalignment in osteogenesis imperfecta type V: case report, pitfalls in the treatment, and review of the literature. ( 29851749 )
2018
5
Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation. ( 28548288 )
2017
6
Osteogenesis imperfecta type V: Genetic and clinical findings in eleven Chinese patients. ( 27678411 )
2016
7
Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V. ( 26648832 )
2015
8
Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V. ( 27646918 )
2015
9
A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation. ( 25251575 )
2015
10
Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. ( 24478195 )
2014
11
A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor. ( 24519609 )
2014
12
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. ( 24674092 )
2014
13
Non-traumatic hypertrophic callus of the fibula mimicking osteosarcoma in osteogenesis imperfecta type V: a case report. ( 24733362 )
2014
14
Swellings over the Limbs as the Earliest Feature in a Patient with Osteogenesis Imperfecta Type V. ( 24772361 )
2014
15
The recurrent causal mutation for osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide within the IFITM5 gene. ( 27625865 )
2014
16
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients. ( 23240094 )
2013
17
Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. ( 23408678 )
2013
18
Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene. ( 23674381 )
2013
19
Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients. ( 23804581 )
2013
20
A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. ( 23813632 )
2013
21
Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V. ( 23977282 )
2013
22
A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. ( 22863190 )
2012
23
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. ( 22863195 )
2012
24
Osteogenesis imperfecta type V. ( 21822652 )
2011
25
Sporadic osteogenesis imperfecta type V in an 11-year-old Japanese girl. ( 20721730 )
2010
26
Osteogenesis imperfecta type V, spot diagnosis. ( 22802766 )
2010
27
Hyperplastic callus formation in osteogenesis imperfecta type V: follow-up of three generations over ten years. ( 18256825 )
2008
28
Natural history of hyperplastic callus formation in osteogenesis imperfecta type V. ( 17451374 )
2007
29
Brainstem and cerebellar hypoplasia associated with osteogenesis imperfecta type-5. ( 16679688 )
2006
30
Clinical and radiological manifestations of osteogenesis imperfecta type V. ( 16891817 )
2006
31
The effect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta type V. ( 16162424 )
2006
32
Hyperplastic callus formation in osteogenesis imperfecta type V mimicking osteosarcoma: 4-year follow-up with resolution. ( 16308718 )
2006
33
Cyclic bisphosphonate therapy in osteogenesis imperfecta type V. ( 15790328 )
2005

Variations for Osteogenesis Imperfecta, Type V

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

76
# Symbol AA change Variation ID SNP ID
1 IFITM5 p.Ser40Leu VAR_071889 rs786201032

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type V:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFITM5 NM_001025295.2(IFITM5): c.-14C> T single nucleotide variant Pathogenic/Likely pathogenic rs587776916 GRCh38 Chromosome 11, 299504: 299504
2 IFITM5 NM_001025295.2(IFITM5): c.-14C> T single nucleotide variant Pathogenic/Likely pathogenic rs587776916 GRCh37 Chromosome 11, 299504: 299504
3 IFITM5 NM_001025295.2(IFITM5): c.119C> T (p.Ser40Leu) single nucleotide variant Pathogenic rs786201032 GRCh37 Chromosome 11, 299372: 299372
4 IFITM5 NM_001025295.2(IFITM5): c.119C> T (p.Ser40Leu) single nucleotide variant Pathogenic rs786201032 GRCh38 Chromosome 11, 299372: 299372
5 IFITM5 NM_001025295.2(IFITM5): c.80G> C (p.Gly27Ala) single nucleotide variant Benign rs57285449 GRCh37 Chromosome 11, 299411: 299411
6 IFITM5 NM_001025295.2(IFITM5): c.80G> C (p.Gly27Ala) single nucleotide variant Benign rs57285449 GRCh38 Chromosome 11, 299411: 299411
7 IFITM5 NM_001025295.2(IFITM5): c.100C> T (p.Arg34Ter) single nucleotide variant Uncertain significance rs531009160 GRCh37 Chromosome 11, 299391: 299391
8 IFITM5 NM_001025295.2(IFITM5): c.100C> T (p.Arg34Ter) single nucleotide variant Uncertain significance rs531009160 GRCh38 Chromosome 11, 299391: 299391

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 extracellular matrix GO:0031012 9.13 COL1A1 COL1A2 IHH
2 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.7 COL1A1 COL1A2 IBSP
2 in utero embryonic development GO:0001701 9.65 GLI2 IFITM5 IHH
3 blood coagulation GO:0007596 9.63 CD36 COL1A1 COL1A2
4 collagen fibril organization GO:0030199 9.56 COL1A1 COL1A2
5 skeletal system development GO:0001501 9.56 COL1A1 COL1A2 GLI2 IHH
6 cholesterol biosynthetic process GO:0006695 9.55 FDPS GGPS1
7 bone mineralization GO:0030282 9.54 IBSP IFITM5
8 regulation of cholesterol biosynthetic process GO:0045540 9.51 FDPS GGPS1
9 energy homeostasis GO:0097009 9.49 CD36 NR4A3
10 isoprenoid biosynthetic process GO:0008299 9.43 FDPS GGPS1
11 protein heterotrimerization GO:0070208 9.4 COL1A1 COL1A2
12 positive regulation of T cell differentiation in thymus GO:0033089 9.37 GLI2 IHH
13 skin morphogenesis GO:0043589 9.32 COL1A1 COL1A2
14 farnesyl diphosphate biosynthetic process GO:0045337 9.16 FDPS GGPS1
15 osteoblast differentiation GO:0001649 9.02 COL1A1 GLI2 IBSP IHH SP7
16 geranyl diphosphate biosynthetic process GO:0033384 8.96 FDPS GGPS1

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.86 COL1A1 COL1A2 FDPS GGPS1 GLI2 IHH
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.32 COL1A1 COL1A2
3 platelet-derived growth factor binding GO:0048407 9.16 COL1A1 COL1A2
4 dimethylallyltranstransferase activity GO:0004161 8.96 FDPS GGPS1
5 geranyltranstransferase activity GO:0004337 8.62 FDPS GGPS1

Sources for Osteogenesis Imperfecta, Type V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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