MCID: OST132
MIFTS: 46

Osteogenesis Imperfecta, Type Vi

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral 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 vii and osteogenesis imperfecta, type ii. An important gene associated with Osteogenesis Imperfecta, Type Vi is SERPINF1 (Serpin Family F Member 1), and among its related pathways/superpathways are Collagen chain trimerization and Wnt Signaling Pathway and Pluripotency. Affiliated tissues include bone, and related phenotypes are beaking of vertebral bodies and protrusio acetabuli

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)

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.

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

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 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 32)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type vii 34.4 COL1A1 CRTAP
2 osteogenesis imperfecta, type ii 33.6 COL1A1 CRTAP P3H1 PPIB
3 osteogenesis imperfecta, type iv 31.4 COL1A1 CRTAP FKBP10 PPIB SERPINF1 SP7
4 osteogenesis imperfecta, type v 31.1 COL1A1 IBSP IFITM5 SP7
5 osteogenesis imperfecta, type iii 31.1 BMP1 COL1A1 CRTAP FKBP10 P3H1 PPIB
6 bone disease 30.1 COL1A1 IBSP SOST TNFSF11
7 brittle bone disorder 28.9 COL1A1 CRTAP FKBP10 IBSP IFITM5 P3H1
8 osteogenesis imperfecta, type i 12.7
9 osteogenesis imperfecta, type ix 12.6
10 osteogenesis imperfecta, type xiv 12.5
11 osteogenesis imperfecta, type xv 12.5
12 osteogenesis imperfecta, type xiii 12.5
13 kummell's disease 10.5 SOST TNFSF11
14 high bone mass osteogenesis imperfecta 10.5 BMP1 COL1A1
15 osteogenesis imperfecta, type xi 10.4 CRTAP FKBP10
16 osteogenesis imperfecta, type viii 10.3 COL1A1 CRTAP P3H1
17 osteoporosis, juvenile 10.3 COL1A1 WNT3A
18 cystinosis 10.0
19 frozen shoulder 10.0 COL1A1 CTNNB1
20 oncogenic osteomalacia 10.0 MEPE PHEX
21 cervical incompetence 9.9 CRTAP P3H1 SERPINH1
22 craniodiaphyseal dysplasia 9.9 CTNNB1 SOST WNT3A
23 autosomal recessive hypophosphatemic rickets 9.9 IBSP PHEX
24 sclerosteosis 1 9.9 SOST SP7
25 osteogenesis imperfecta, type xii 9.8 FKBP10 SP7
26 dentinogenesis imperfecta 9.7 COL1A1 CRTAP FKBP10 IFITM5 P3H1
27 bone resorption disease 9.5 COL1A1 SOST SP7 TNFSF11
28 connective tissue disease 9.3 COL1A1 IBSP P3H1 PPIB SERPINH1
29 bone remodeling disease 9.2 PHEX SOST SP7 TNFSF11
30 bone development disease 9.2 COL1A1 CRTAP FKBP10 IFITM5 P3H1 PPIB
31 bruck syndrome 7.9 BMP1 COL1A1 CRTAP FKBP10 IFITM5 P3H1
32 osteoporosis 7.9 COL1A1 CTNNB1 IBSP MEPE SOST SP7

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 protrusio acetabuli 32 HP:0003179
3 joint laxity 32 HP:0001388
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

GenomeRNAi Phenotypes related to Osteogenesis Imperfecta, Type Vi according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Wnt reporter downregulated GR00017-A-0 8.8 CTNNB1 PPIB WNT3A

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Vi:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 IBSP P3H1 PHEX PPIB SERPINH1 SOST
2 craniofacial MP:0005382 10.2 BMP1 COL1A1 CTNNB1 FKBP10 IBSP IFITM5
3 limbs/digits/tail MP:0005371 10.17 CTNNB1 FKBP10 IBSP IFITM5 P3H1 PHEX
4 homeostasis/metabolism MP:0005376 10.15 BMP1 COL1A1 CTNNB1 CTNS FKBP10 PHEX
5 cardiovascular system MP:0005385 10.13 BMP1 COL1A1 CTNNB1 FKBP10 SCN10A SERPINF1
6 digestive/alimentary MP:0005381 10.03 BMP1 COL1A1 CTNNB1 IBSP PHEX SERPINF1
7 mortality/aging MP:0010768 10.03 WNT3A BMP1 COL1A1 CTNNB1 FKBP10 IFITM5
8 muscle MP:0005369 9.76 CTNNB1 CTNS P3H1 TMEM38B TNFSF11 WNT3A
9 skeleton MP:0005390 9.58 BMP1 COL1A1 CRTAP CTNNB1 CTNS FKBP10
10 respiratory system MP:0005388 9.56 COL1A1 CTNNB1 SCN10A SERPINH1 SP7 TMEM38B

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

Publications for Osteogenesis Imperfecta, Type Vi

Articles related to Osteogenesis Imperfecta, Type Vi:

(show all 14)
# Title Authors Year
1
Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI. ( 27796462 )
2017
2
Osteogenesis Imperfecta Type VI in Individuals from Northern Canada. ( 26815784 )
2016
3
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
4
Pigment epithelium-derived factor (PEDF) normalizes matrix defects in iPSCs derived from Osteogenesis imperfecta Type VI. ( 27579219 )
2016
5
The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI. ( 25868797 )
2015
6
A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor. ( 24519609 )
2014
7
Two yearsA? experience with denosumab for children with Osteogenesis imperfecta type VI. ( 25257953 )
2014
8
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families. ( 25565926 )
2014
9
A mouse model for human osteogenesis imperfecta type VI. ( 23413146 )
2013
10
Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1. ( 23853499 )
2013
11
A co-occurrence of osteogenesis imperfecta type VI and cystinosis. ( 22528245 )
2012
12
Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI. ( 22669302 )
2012
13
Mutations in SERPINF1 cause osteogenesis imperfecta type VI. ( 21826736 )
2011
14
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.118_119delGT (p.Val40Glyfs) deletion Pathogenic rs398122518 GRCh38 Chromosome 17, 1769885: 1769886
7 SERPINF1 NM_002615.6(SERPINF1): c.653delT (p.Val218Glufs) deletion Pathogenic rs398122520 GRCh37 Chromosome 17, 1678361: 1678361
8 SERPINF1 NM_002615.6(SERPINF1): c.653delT (p.Val218Glufs) deletion Pathogenic rs398122520 GRCh38 Chromosome 17, 1775067: 1775067
9 SERPINF1 NM_002615.6(SERPINF1): c.-9+2dupT duplication Pathogenic rs398122519 GRCh38 Chromosome 17, 1762115: 1762115
10 SERPINF1 NM_002615.6(SERPINF1): c.-9+2dupT duplication Pathogenic rs398122519 GRCh37 Chromosome 17, 1665409: 1665409
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 endoplasmic reticulum GO:0005783 9.86 COL1A1 CRTAP FKBP10 P3H1 PHEX PPIB
2 extracellular region GO:0005576 9.85 BMP1 COL1A1 CRTAP IBSP MEPE P3H1
3 protein-containing complex GO:0032991 9.8 CRTAP CTNNB1 P3H1 PPIB SOST
4 extracellular matrix GO:0031012 9.62 COL1A1 IBSP SERPINF1 SOST
5 extracellular space GO:0005615 9.61 BMP1 COL1A1 CRTAP IBSP SERPINF1 SERPINH1
6 melanosome GO:0042470 9.54 CTNS PPIB SERPINF1
7 endoplasmic reticulum lumen GO:0005788 9.23 COL1A1 CRTAP FKBP10 MEPE P3H1 PPIB

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA binding transcription factor activity GO:0051091 9.74 CTNNB1 TNFSF11 WNT3A
2 cellular response to retinoic acid GO:0071300 9.7 COL1A1 SERPINF1 WNT3A
3 negative regulation of neuron death GO:1901215 9.67 CTNNB1 SERPINF1 WNT3A
4 osteoblast differentiation GO:0001649 9.67 COL1A1 IBSP SP7 WNT3A
5 bone mineralization GO:0030282 9.61 IBSP IFITM5 PHEX
6 bone resorption GO:0045453 9.58 CTNNB1 TNFSF11
7 beta-catenin destruction complex disassembly GO:1904886 9.58 CTNNB1 WNT3A
8 biomineral tissue development GO:0031214 9.58 IBSP MEPE PHEX
9 regulation of osteoclast differentiation GO:0045670 9.56 CTNNB1 TNFSF11
10 ossification GO:0001503 9.56 BMP1 COL1A1 SOST TNFSF11
11 positive regulation of skeletal muscle tissue development GO:0048643 9.55 CTNNB1 WNT3A
12 cellular response to parathyroid hormone stimulus GO:0071374 9.54 PHEX SOST
13 collagen biosynthetic process GO:0032964 9.51 COL1A1 SERPINH1
14 positive regulation of core promoter binding GO:1904798 9.48 CTNNB1 WNT3A
15 tooth eruption GO:0044691 9.46 COL1A1 TNFSF11
16 bone development GO:0060348 9.46 P3H1 PHEX PPIB TNFSF11
17 skeletal system development GO:0001501 9.35 BMP1 COL1A1 CTNNB1 MEPE PHEX
18 negative regulation of post-translational protein modification GO:1901874 9.32 CRTAP P3H1
19 chaperone-mediated protein folding GO:0061077 8.92 CRTAP FKBP10 P3H1 PPIB

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

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 8.8 P3H1 PPIB SERPINH1

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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