MCID: OST124
MIFTS: 47

Osteogenesis Imperfecta, Type V

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

Aliases & Classifications for Osteogenesis Imperfecta, Type V

MalaCards integrated aliases for Osteogenesis Imperfecta, Type V:

Name: Osteogenesis Imperfecta, Type V 57 13 40
Osteogenesis Imperfecta Type 5 12 59 29 6 15
Osteogenesis Imperfecta Type V 12 53 75
Oi5 57 12 75
Oi Type 5 53 59
Oi Type V 53 75
Oi with Calcification in Interosseous Membranes 53
Osteogenesis Imperfecta 5 75
Oi, Type V 57
Type V Oi 53
Oi-V 75

Characteristics:

Orphanet epidemiological data:

59
osteogenesis imperfecta type 5
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
osteogenesis imperfecta, type v:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 610967
Disease Ontology 12 DOID:0110344
ICD10 33 Q78.0
Orphanet 59 ORPHA216828
MESH via Orphanet 45 C536046
ICD10 via Orphanet 34 Q78.0
UMLS via Orphanet 74 C1970414 C2931093
MedGen 42 C1970414
MeSH 44 D010013

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)

MalaCards based summary : Osteogenesis Imperfecta, Type V, also known as osteogenesis imperfecta type 5, is related to brittle bone disorder and ehlers-danlos/osteogenesis imperfecta syndrome. 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 osteopenia and abnormality of the dentition

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

NIH Rare Diseases : 53 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 : 75 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 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 26)
# Related Disease Score Top Affiliating Genes
1 brittle bone disorder 30.0 CD36 COL1A1 COL1A2 IBSP IFITM5
2 ehlers-danlos/osteogenesis imperfecta syndrome 10.6 COL1A1 COL1A2
3 high bone mass osteogenesis imperfecta 10.5 COL1A1 COL1A2
4 larsen-like syndrome 10.5 COL1A1 COL1A2
5 osteogenesis imperfecta, type viii 10.5 COL1A1 COL1A2
6 osteogenesis imperfecta, type vii 10.3 CD36 COL1A1 COL1A2
7 scleroderma, familial progressive 10.3 CD36 COL1A1 COL1A2
8 caffey disease 10.3 CD36 COL1A1 COL1A2
9 ehlers-danlos syndrome, classic type, 1 10.3 CD36 COL1A1 COL1A2
10 dentinogenesis imperfecta 10.3 COL1A1 COL1A2 IFITM5
11 bone development disease 10.3 COL1A1 COL1A2 IFITM5
12 osteogenesis imperfecta, type ii 10.3 CD36 COL1A1 COL1A2
13 ehlers-danlos syndrome, classic type 10.2 COL1A1 COL1A2
14 osteogenesis imperfecta, type i 10.2 CD36 COL1A1 COL1A2
15 otosclerosis 10.2 CD36 COL1A1 COL1A2
16 spondyloepiphyseal dysplasia congenita 10.2 COL1A1 COL1A2 IHH
17 adult fibrosarcoma 10.2 COL1A1 FDPS
18 osteochondrosis 10.1 CD36 IHH
19 bruck syndrome 10.1 CD36 COL1A1 COL1A2 IFITM5
20 osteogenesis imperfecta, type iv 10.0 CD36 COL1A1 COL1A2 SP7
21 osteogenesis imperfecta, type iii 9.8 CD36 COL1A1 COL1A2 FDPS
22 connective tissue disease 9.8 COL1A1 COL1A2 IBSP
23 bone disease 9.7 CD36 COL1A1 IBSP
24 osteogenesis imperfecta, type vi 9.7 COL1A1 IBSP IFITM5 SP7
25 ischemic bone disease 9.7 FDPS SP7
26 osteoporosis 8.8 CD36 COL1A1 COL1A2 FDPS 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Osteogenesis Imperfecta, Type V:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 abnormality of the dentition 32 HP:0000164
3 short stature 32 HP:0004322
4 abnormality of the eye 32 HP:0000478
5 abnormality of metabolism/homeostasis 32 HP:0001939
6 dentinogenesis imperfecta 32 occasional (7.5%) HP:0000703
7 platyspondyly 32 HP:0000926
8 wormian bones 32 HP:0002645
9 joint hypermobility 32 occasional (7.5%) HP:0001382
10 recurrent fractures 32 HP:0002757
11 abnormality of pelvic girdle bone morphology 32 HP:0002644
12 limited pronation/supination of forearm 32 HP:0006394
13 vertebral wedging 32 HP:0008422
14 triangular face 32 HP:0000325
15 blue sclerae 32 occasional (7.5%) HP:0000592
16 biconcave vertebral bodies 32 HP:0004586
17 anterior radial head dislocation 32 HP:0005084
18 hyperplastic callus formation 32 HP:0030268

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type V:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.7 COL1A1 COL1A2 GLI2 IBSP IFITM5 IHH
2 craniofacial MP:0005382 9.65 COL1A1 GLI2 IBSP IFITM5 IHH
3 mortality/aging MP:0010768 9.61 CD36 COL1A1 COL1A2 GGPS1 GLI2 IFITM5
4 skeleton MP:0005390 9.23 IHH SP7 CD36 COL1A1 COL1A2 GLI2

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:

41
Bone, Eye

Publications for Osteogenesis Imperfecta, Type V

Articles related to Osteogenesis Imperfecta, Type V:

(show all 14)
# Title Authors Year
1
Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V. ( 26648832 )
2015
2
The IFITM5 mutation c.-14C &amp;gt; T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. ( 24674092 )
2014
3
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C&amp;gt;T mutation in all patients. ( 23240094 )
2013
4
A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. ( 23813632 )
2013
5
Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. ( 23408678 )
2013
6
Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V. ( 23977282 )
2013
7
Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients. ( 23804581 )
2013
8
A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. ( 22863190 )
2012
9
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
10
Osteogenesis imperfecta type V. ( 21822652 )
2011
11
Osteogenesis imperfecta type V, spot diagnosis. ( 22802766 )
2010
12
Sporadic osteogenesis imperfecta type V in an 11-year-old Japanese girl. ( 20721730 )
2010
13
Hyperplastic callus formation in osteogenesis imperfecta type V: follow-up of three generations over ten years. ( 18256825 )
2008
14
The effect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta type V. ( 16162424 )
2006

Variations for Osteogenesis Imperfecta, Type V

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

75
# 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 rs587776916 GRCh38 Chromosome 11, 299504: 299504
2 IFITM5 NM_001025295.2(IFITM5): c.-14C> T single nucleotide variant 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 collagen trimer GO:0005581 9.13 CD36 COL1A1 COL1A2
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 17)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.71 COL1A1 COL1A2 IBSP
2 in utero embryonic development GO:0001701 9.69 GLI2 IFITM5 IHH
3 blood coagulation GO:0007596 9.65 CD36 COL1A1 COL1A2
4 collagen fibril organization GO:0030199 9.57 COL1A1 COL1A2
5 cholesterol biosynthetic process GO:0006695 9.56 FDPS GGPS1
6 skeletal system development GO:0001501 9.56 COL1A1 COL1A2 GLI2 IHH
7 bone mineralization GO:0030282 9.55 IBSP IFITM5
8 regulation of cholesterol biosynthetic process GO:0045540 9.52 FDPS GGPS1
9 response to mechanical stimulus GO:0009612 9.5 COL1A1 GLI2 IHH
10 energy homeostasis GO:0097009 9.49 CD36 NR4A3
11 isoprenoid biosynthetic process GO:0008299 9.46 FDPS GGPS1
12 protein heterotrimerization GO:0070208 9.43 COL1A1 COL1A2
13 positive regulation of T cell differentiation in thymus GO:0033089 9.4 GLI2 IHH
14 skin morphogenesis GO:0043589 9.37 COL1A1 COL1A2
15 geranyl diphosphate biosynthetic process GO:0033384 9.16 FDPS GGPS1
16 osteoblast differentiation GO:0001649 9.02 COL1A1 GLI2 IBSP IHH SP7
17 farnesyl diphosphate biosynthetic process GO:0045337 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 platelet-derived growth factor binding GO:0048407 9.16 COL1A1 COL1A2
3 dimethylallyltranstransferase activity GO:0004161 8.96 FDPS GGPS1
4 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 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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