OI6
MCID: OST132
MIFTS: 41

Osteogenesis Imperfecta, Type Vi (OI6)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Vi

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Vi:

Name: Osteogenesis Imperfecta, Type Vi 57 29 13 6 40
Oi6 57 12 53 75
Osteogenesis Imperfecta Type Vi 12 53 75
Osteogenesis Imperfecta Type 6 12 15
Oi Type Vi 53 75
Serpinfi- Related Osteogenesis Imperfecta 53
Osteogenesis Imperfecta Type 53
Osteogenesis Imperfecta 6 75
Oi Type 6 53
Oi-Vi 75

Characteristics:

HPO:

32
osteogenesis imperfecta, type vi:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613982
Disease Ontology 12 DOID:0110350
ICD10 33 Q78.0
MedGen 42 C3279564
MeSH 44 D010013

Summaries for Osteogenesis Imperfecta, Type Vi

UniProtKB/Swiss-Prot : 75 Osteogenesis imperfecta 6: A 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. OI6 is a severe, autosomal recessive form compatible with OI type III in the Sillence classification.

MalaCards based summary : Osteogenesis Imperfecta, Type Vi, also known as oi6, is related to osteogenesis imperfecta, type iii and osteogenesis imperfecta, type iv. An important gene associated with Osteogenesis Imperfecta, Type Vi is SERPINF1 (Serpin Family F Member 1). Affiliated tissues include bone, eye and kidney, and related phenotypes are beaking of vertebral bodies and joint laxity

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the SERPINF1 gene on chromosome 17p13.3.

NIH Rare Diseases : 53 Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily.  When viewed under a microscope, bone tissue has a distinct "fish-scale" pattern.  Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6 months of age. Osteogenesis imperfecta type 6 may be caused by mutations in the SERPINF1 gene and is inherited in an autosomal recessive pattern.

OMIM : 57 Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder (Glorieux et al., 2002; Becker et al., 2011). (613982)

Related Diseases for Osteogenesis Imperfecta, Type Vi

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type iii 34.0 COL1A1 SERPINF1
2 osteogenesis imperfecta, type iv 33.6 COL1A1 SERPINF1 TMEM38B
3 osteogenesis imperfecta, type v 31.9 COL1A1 IFITM5
4 brittle bone disorder 30.6 COL1A1 IFITM5 TMEM38B
5 bone resorption disease 29.9 COL1A1 SOST
6 bone disease 29.8 COL1A1 SOST
7 osteogenesis imperfecta, type i 12.8
8 osteogenesis imperfecta, type ii 12.8
9 osteogenesis imperfecta, type ix 12.7
10 osteogenesis imperfecta, type xiv 12.6
11 osteogenesis imperfecta, type xv 12.6
12 osteogenesis imperfecta, type xiii 12.6
13 osteogenesis imperfecta, type vii 12.6
14 osteogenesis imperfecta, type xi 12.6
15 osteogenesis imperfecta, type x 12.6
16 osteogenesis imperfecta, type xvi 12.6
17 osteogenesis imperfecta, type viii 12.6
18 osteogenesis imperfecta, type xviii 12.5
19 osteogenesis imperfecta, type xix 12.5
20 osteogenesis imperfecta, type xii 12.4
21 osteogenesis imperfecta, type xvii 12.4
22 col1a1/2-related osteogenesis imperfecta 10.5
23 thanatophoric dysplasia, type i 10.1
24 cystinosis 10.1
25 osteoporosis 10.0
26 cerebellar hypoplasia 10.0
27 chondrodysplasia punctata syndrome 10.0
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
29 hydrocephalus 10.0
30 pseudoarthrosis 10.0
31 brachydactyly 10.0
32 thrombosis 10.0
33 polycystic kidney disease 10.0
34 hypogonadotropic hypogonadism 10.0
35 hypogonadism 10.0
36 kidney disease 10.0
37 hypogonadotropism 10.0
38 autosomal dominant polycystic kidney disease 10.0
39 arachnoid cysts 10.0
40 van buchem disease 10.0 COL1A1 SOST
41 osteoporosis, juvenile 9.9 COL1A1 SOST
42 sclerosteosis 9.9 COL1A1 SOST
43 dentinogenesis imperfecta 9.9 COL1A1 IFITM5
44 bone development disease 9.9 COL1A1 IFITM5
45 hyperostosis 9.9 COL1A1 SOST
46 otosclerosis 9.9 COL1A1 SERPINF1
47 bruck syndrome 9.8 COL1A1 IFITM5 SERPINF1

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



Diseases related to Osteogenesis Imperfecta, Type Vi

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Vi

Clinical features from OMIM:

613982

Human phenotypes related to Osteogenesis Imperfecta, Type Vi:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 beaking of vertebral bodies 32 HP:0004568
2 joint laxity 32 HP:0001388
3 protrusio acetabuli 32 HP:0003179
4 coxa vara 32 HP:0002812
5 biconcave vertebral bodies 32 HP:0004586
6 increased susceptibility to fractures 32 HP:0002659
7 vertebral compression fractures 32 HP:0002953

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Vi:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.13 COL1A1 IFITM5 SOST
2 skeleton MP:0005390 8.92 COL1A1 IFITM5 SERPINF1 SOST

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Vi

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

Genetic Tests for Osteogenesis Imperfecta, Type Vi

Genetic tests related to Osteogenesis Imperfecta, Type Vi:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta, Type Vi 29 SERPINF1

Anatomical Context for Osteogenesis Imperfecta, Type Vi

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

41
Bone, Eye, Kidney

Publications for Osteogenesis Imperfecta, Type Vi

Articles related to Osteogenesis Imperfecta, Type Vi:

(show all 19)
# Title Authors Year
1
Hypercalcemia and hypercalciuria during denosumab treatment in children with osteogenesis imperfecta type VI. ( 29504582 )
2018
2
Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI. ( 30283904 )
2018
3
Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI. ( 27796462 )
2017
4
Long-term follow-up in osteogenesis imperfecta type VI. ( 28689307 )
2017
5
Osteogenesis Imperfecta Type VI in Individuals from Northern Canada. ( 26815784 )
2016
6
Pigment epithelium-derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade. ( 27127101 )
2016
7
Pigment epithelium-derived factor (PEDF) normalizes matrix defects in iPSCs derived from Osteogenesis imperfecta Type VI. ( 27579219 )
2016
8
The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI. ( 25868797 )
2015
9
Unique micro- and nano-scale mineralization pattern of human osteogenesis imperfecta type VI bone. ( 25554599 )
2015
10
A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor. ( 24519609 )
2014
11
Two yearsA? experience with denosumab for children with Osteogenesis imperfecta type VI. ( 25257953 )
2014
12
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families. ( 25565926 )
2014
13
A mouse model for human osteogenesis imperfecta type VI. ( 23413146 )
2013
14
Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1. ( 23853499 )
2013
15
A co-occurrence of osteogenesis imperfecta type VI and cystinosis. ( 22528245 )
2012
16
Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI. ( 22669302 )
2012
17
First use of the RANKL antibody denosumab in osteogenesis imperfecta type VI. ( 22947550 )
2012
18
Mutations in SERPINF1 cause osteogenesis imperfecta type VI. ( 21826736 )
2011
19
Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. ( 11771667 )
2002

Variations for Osteogenesis Imperfecta, Type Vi

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Vi:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 SERPINF1 SERPINF1, 2-BP DUP, 324CT duplication Pathogenic
2 SERPINF1 NM_002615.6(SERPINF1): c.696C> G (p.Tyr232Ter) single nucleotide variant Pathogenic rs193302872 GRCh37 Chromosome 17, 1678404: 1678404
3 SERPINF1 NM_002615.6(SERPINF1): c.696C> G (p.Tyr232Ter) single nucleotide variant Pathogenic rs193302872 GRCh38 Chromosome 17, 1775110: 1775110
4 SERPINF1 NM_002615.6(SERPINF1): c.1132C> T (p.Gln378Ter) single nucleotide variant Pathogenic rs193302873 GRCh37 Chromosome 17, 1680615: 1680615
5 SERPINF1 NM_002615.6(SERPINF1): c.1132C> T (p.Gln378Ter) single nucleotide variant Pathogenic rs193302873 GRCh38 Chromosome 17, 1777321: 1777321
6 SERPINF1 NM_002615.6(SERPINF1): c.-9+2dupT duplication Pathogenic rs398122519 GRCh38 Chromosome 17, 1762115: 1762115
7 SERPINF1 NM_002615.6(SERPINF1): c.-9+2dupT duplication Pathogenic rs398122519 GRCh37 Chromosome 17, 1665409: 1665409
8 SERPINF1 NM_002615.6(SERPINF1): c.653delT (p.Val218Glufs) deletion Pathogenic rs398122520 GRCh37 Chromosome 17, 1678361: 1678361
9 SERPINF1 NM_002615.6(SERPINF1): c.118_119delGT (p.Val40Glyfs) deletion Pathogenic rs398122518 GRCh38 Chromosome 17, 1769885: 1769886
10 SERPINF1 NM_002615.6(SERPINF1): c.653delT (p.Val218Glufs) deletion Pathogenic rs398122520 GRCh38 Chromosome 17, 1775067: 1775067
11 SERPINF1 NM_002615.6(SERPINF1): c.118_119delGT (p.Val40Glyfs) deletion Pathogenic rs398122518 GRCh37 Chromosome 17, 1673179: 1673180
12 SERPINF1 NM_001329905.1(SERPINF1): c.591_609del19 (p.Phe197Leufs) deletion Pathogenic rs869312908 GRCh37 Chromosome 17, 1680635: 1680653
13 SERPINF1 NM_001329905.1(SERPINF1): c.591_609del19 (p.Phe197Leufs) deletion Pathogenic rs869312908 GRCh38 Chromosome 17, 1777341: 1777359
14 SERPINF1 NM_002615.6(SERPINF1): c.215C> T (p.Thr72Met) single nucleotide variant Benign rs1136287 GRCh38 Chromosome 17, 1769982: 1769982
15 SERPINF1 NM_002615.6(SERPINF1): c.215C> T (p.Thr72Met) single nucleotide variant Benign rs1136287 GRCh37 Chromosome 17, 1673276: 1673276

Expression for Osteogenesis Imperfecta, Type Vi

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

Pathways for Osteogenesis Imperfecta, Type Vi

GO Terms for Osteogenesis Imperfecta, Type Vi

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 8.8 COL1A1 SERPINF1 SOST

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

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.16 COL1A1 SOST
2 cellular response to retinoic acid GO:0071300 8.96 COL1A1 SERPINF1
3 response to mechanical stimulus GO:0009612 8.62 COL1A1 SOST

Sources for Osteogenesis Imperfecta, Type Vi

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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