OI6
MCID: OST132
MIFTS: 46

Osteogenesis Imperfecta, Type Vi (OI6)

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 Vi

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Vi:

Name: Osteogenesis Imperfecta, Type Vi 57 29 13 6 39
Oi6 57 12 20 72
Osteogenesis Imperfecta Type Vi 12 20 72
Osteogenesis Imperfecta Type 6 12 15
Oi Type Vi 20 72
Serpinfi- Related Osteogenesis Imperfecta 20
Osteogenesis Imperfecta Type 20
Osteogenesis Imperfecta 6 72
Oi Type 6 20
Oi-Vi 72

Characteristics:

OMIM®:

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

Miscellaneous:
no prenatal onset of fractures
variable severity of fractures
positive response to bisphosphonate treatment


HPO:

31
osteogenesis imperfecta, type vi:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110350
OMIM® 57 613982
OMIM Phenotypic Series 57 PS166200
MeSH 44 D010013
ICD10 32 Q78.0
MedGen 41 C3279564

Summaries for Osteogenesis Imperfecta, Type Vi

UniProtKB/Swiss-Prot : 72 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 v. An important gene associated with Osteogenesis Imperfecta, Type Vi is SERPINF1 (Serpin Family F Member 1), and among its related pathways/superpathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Osteoblast Signaling. The drug Hormones has been mentioned in the context of this disorder. 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.

GARD : 20 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) (Updated 20-May-2021)

Related Diseases for Osteogenesis Imperfecta, Type Vi

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

(show top 50) (show all 125)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type iii 32.8 SERPINF1 COL1A1
2 osteogenesis imperfecta, type v 30.5 IFITM5 COL1A1
3 osteogenesis imperfecta, type iv 30.3 SERPINF1 COL1A1
4 otosclerosis 30.2 SERPINF1 MEPE COL1A1
5 ankylosis 30.1 SOST IBSP
6 bone resorption disease 30.1 SOST IBSP COL1A1
7 hypophosphatemic rickets, x-linked recessive 30.0 PHEX MEPE
8 sclerosteosis 30.0 SOST COL1A1
9 rickets 29.9 PHEX MEPE IBSP
10 dentinogenesis imperfecta 29.7 SERPINF1 MEPE IFITM5 IBSP COL1A1
11 bone disease 29.6 SOST PHEX IBSP COL1A1
12 paget's disease of bone 29.4 SOST IBSP
13 brittle bone disorder 29.4 SOST SERPINF1 PHEX MEPE IFITM5 IBSP
14 osteoporosis 29.3 SOST MEPE IBSP COL1A1
15 osteochondrodysplasia 28.4 SOST SERPINF1 PHEX MEPE IFITM5 IBSP
16 osteogenesis imperfecta, type i 12.0
17 osteogenesis imperfecta, type ii 11.9
18 osteogenesis imperfecta, type ix 11.8
19 osteogenesis imperfecta, type vii 11.8
20 osteogenesis imperfecta, type xiii 11.8
21 osteogenesis imperfecta, type xiv 11.8
22 osteogenesis imperfecta, type xv 11.8
23 osteogenesis imperfecta, type xx 11.8
24 osteogenesis imperfecta, type viii 11.8
25 osteogenesis imperfecta, type xi 11.7
26 osteogenesis imperfecta, type xix 11.7
27 osteogenesis imperfecta, type xvi 11.7
28 osteogenesis imperfecta, type xviii 11.7
29 osteogenesis imperfecta, type x 11.7
30 osteogenesis imperfecta, type xii 11.7
31 osteogenesis imperfecta, type xxi 11.7
32 osteogenesis imperfecta, type xvii 11.6
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
34 ehlers-danlos syndrome, classic type, 1 10.4
35 classic ehlers-danlos syndrome 10.4
36 col1a1/2 osteogenesis imperfecta 10.3
37 osteogenic sarcoma 10.2
38 helix syndrome 10.2
39 dwarfism 10.2
40 thanatophoric dysplasia, type i 10.1
41 brachydactyly 10.1
42 cerebellar hypoplasia 10.1
43 hydrocephalus 10.1
44 ehlers-danlos syndrome 10.1
45 connective tissue disease 10.1
46 back pain 10.1
47 hypotonia 10.1
48 bone mineral density quantitative trait locus 3 10.1
49 autosomal recessive disease 10.1
50 scoliosis 10.1

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

Human phenotypes related to Osteogenesis Imperfecta, Type Vi:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 beaking of vertebral bodies 31 HP:0004568
2 joint laxity 31 HP:0001388
3 protrusio acetabuli 31 HP:0003179
4 coxa vara 31 HP:0002812
5 biconcave vertebral bodies 31 HP:0004586
6 increased susceptibility to fractures 31 HP:0002659
7 vertebral compression fractures 31 HP:0002953

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
kyphosis
flattened vertebrae

Skeletal Skull:
wormian bones
soft calvaria (in some patients)

Laboratory Abnormalities:
elevated alkaline phosphatase
elevated procollagen-1-c-peptide
moderately increased deoxypyridinoline

Skeletal Pelvis:
small pelvis
delayed hip development

Neurologic Central Nervous System:
gross motor delay

Skeletal:
osteopenia
fractures
joint hypermobility (in some patients)
bone age delay, mild

Head And Neck Eyes:
blue sclerae

Growth Height:
short stature, postnatal

Skeletal Limbs:
bowed humeri
bowed femurs
bowing of lower extremities
long bone fractures (upper and lower)
bowing of upper extremities
more

Clinical features from OMIM®:

613982 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Vi:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.35 COL1A1 IBSP IFITM5 PHEX SOST
2 skeleton MP:0005390 9.17 COL1A1 IBSP IFITM5 MEPE PHEX SERPINF1

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Vi

Drugs for Osteogenesis Imperfecta, Type Vi (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Studies of Growth Deficiency and Growth Hormone Treatment in Children With Osteogenesis Imperfecta Types III and IV Completed NCT00001305 Phase 3 Humatrope
2 Protocol Title: A Phase 2b, Multicentre, Multinational, Double-blind, Dose-finding Study, Incorporating an Open Label Substudy, in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With Setrusumab (BPS804). Completed NCT03118570 Phase 2 BPS804
3 A Pilot Study to Assess the Safety and Feasibility of Repeated Infusions of Mesenchymal Stromal Cells (MSC) in Children With Osteogenesis Imperfecta Completed NCT01061099 Phase 1
4 Use of Clear Aligners for the Treatment of Dental Malocclusion in Individuals With Osteogenesis Imperfecta Types III and IV Not yet recruiting NCT04815564

Search 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:

40
Bone, Eye, Kidney, Lung

Publications for Osteogenesis Imperfecta, Type Vi

Articles related to Osteogenesis Imperfecta, Type Vi:

(show all 30)
# Title Authors PMID Year
1
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. 57 6
23054245 2012
2
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. 6 57
21353196 2011
3
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families. 61 6
25565926 2014
4
A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor. 57 61
24519609 2014
5
Osteogenesis imperfecta type VI in childhood and adolescence: effects of cyclical intravenous pamidronate treatment. 57 61
17127117 2007
6
Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. 61 57
11771667 2002
7
Treatment response to long term antiresorptive therapy in osteogenesis imperfecta type VI: does genotype matter? 61
33031053 2020
8
Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two cases. 61
32314604 2020
9
Pigment epithelium-derived factor (PEDF) reduced expression and synthesis of SOST/sclerostin in bone explant cultures: implication of PEDF-osteocyte gene regulation in vivo. 61
30607618 2019
10
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature. 61
30985308 2019
11
Pigment epithelium derived factor regulates human Sost/Sclerostin and other osteocyte gene expression via the receptor and induction of Erk/GSK-3beta/beta-catenin signaling. 61
30076958 2018
12
Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI. 61
30283904 2018
13
Hypercalcemia and hypercalciuria during denosumab treatment in children with osteogenesis imperfecta type VI. 61
29504582 2018
14
Long-term follow-up in osteogenesis imperfecta type VI. 61
28689307 2017
15
Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI. 61
27796462 2017
16
Pigment epithelium-derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade. 61
27127101 2016
17
Osteogenesis Imperfecta Type VI in Individuals from Northern Canada. 61
26815784 2016
18
Pigment epithelium-derived factor (PEDF) normalizes matrix defects in iPSCs derived from Osteogenesis imperfecta Type VI. 61
27579219 2016
19
Pigment Epithelium-Derived Factor (PEDF) is a Determinant of Stem Cell Fate: Lessons from an Ultra-Rare Disease. 61
27239449 2015
20
The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI. 61
25868797 2015
21
Pigment epithelium derived factor suppresses expression of Sost/Sclerostin by osteocytes: implication for its role in bone matrix mineralization. 61
25363869 2015
22
Unique micro- and nano-scale mineralization pattern of human osteogenesis imperfecta type VI bone. 61
25554599 2015
23
Two years' experience with denosumab for children with osteogenesis imperfecta type VI. 61
25257953 2014
24
Pigment epithelium-derived factor enhances differentiation and mineral deposition of human mesenchymal stem cells. 61
23939834 2013
25
A mouse model for human osteogenesis imperfecta type VI. 61
23413146 2013
26
Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1. 61
23853499 2013
27
First use of the RANKL antibody denosumab in osteogenesis imperfecta type VI. 61
22947550 2012
28
Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI. 61
22669302 2012
29
A co-occurrence of osteogenesis imperfecta type VI and cystinosis. 61
22528245 2012
30
Mutations in SERPINF1 cause osteogenesis imperfecta type VI. 61
21826736 2011

Variations for Osteogenesis Imperfecta, Type Vi

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Vi:

6 (show top 50) (show all 60)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SERPINF1 NM_002615.7(SERPINF1):c.696C>G (p.Tyr232Ter) SNV Pathogenic 31851 rs193302872 GRCh37: 17:1678404-1678404
GRCh38: 17:1775110-1775110
2 SERPINF1 SERPINF1, 2-BP DUP, 324CT Duplication Pathogenic 29840 GRCh37:
GRCh38:
3 SERPINF1 NM_002615.7(SERPINF1):c.1132C>T (p.Gln378Ter) SNV Pathogenic 31853 rs193302873 GRCh37: 17:1680615-1680615
GRCh38: 17:1777321-1777321
4 SERPINF1 NM_002615.7(SERPINF1):c.119_120del (p.Val40fs) Deletion Pathogenic 41892 rs398122518 GRCh37: 17:1673179-1673180
GRCh38: 17:1769885-1769886
5 SERPINF1 NM_002615.7(SERPINF1):c.-9+2dup Duplication Pathogenic 41893 rs398122519 GRCh37: 17:1665408-1665409
GRCh38: 17:1762114-1762115
6 SERPINF1 NM_002615.7(SERPINF1):c.653del (p.Val218fs) Deletion Pathogenic 41894 rs398122520 GRCh37: 17:1678361-1678361
GRCh38: 17:1775067-1775067
7 SERPINF1 NM_002615.7(SERPINF1):c.1152_1170del (p.Phe384fs) Deletion Pathogenic 224879 rs869312908 GRCh37: 17:1680628-1680646
GRCh38: 17:1777334-1777352
8 SERPINF1 NM_002615.7(SERPINF1):c.651G>A (p.Trp217Ter) SNV Pathogenic 684390 rs1597355244 GRCh37: 17:1678359-1678359
GRCh38: 17:1775065-1775065
9 SERPINF1 NM_002615.7(SERPINF1):c.1217_1253del (p.Leu406fs) Deletion Pathogenic 684387 rs1597357740 GRCh37: 17:1680691-1680727
GRCh38: 17:1777397-1777433
10 SERPINF1 NM_002615.7(SERPINF1):c.349_356dup (p.His119fs) Duplication Pathogenic 997452 GRCh37: 17:1674384-1674385
GRCh38: 17:1771090-1771091
11 SERPINF1 NM_002615.7(SERPINF1):c.838_839del (p.Leu280fs) Deletion Pathogenic 1064530 GRCh37: 17:1679877-1679878
GRCh38: 17:1776583-1776584
12 SERPINF1 NM_002615.7(SERPINF1):c.559C>T (p.Gln187Ter) SNV Likely pathogenic 684388 rs1597352358 GRCh37: 17:1675285-1675285
GRCh38: 17:1771991-1771991
13 SERPINF1 NM_002615.7(SERPINF1):c.1216C>T (p.Leu406Phe) SNV Likely pathogenic 684389 rs1597357758 GRCh37: 17:1680699-1680699
GRCh38: 17:1777405-1777405
14 SERPINF1 NM_002615.7(SERPINF1):c.727_729ATG[1] (p.Met244del) Microsatellite Uncertain significance 623487 rs750464528 GRCh37: 17:1678435-1678437
GRCh38: 17:1775141-1775143
15 SERPINF1 NM_002615.7(SERPINF1):c.397C>T (p.Gln133Ter) SNV Uncertain significance 632269 rs138610575 GRCh37: 17:1674436-1674436
GRCh38: 17:1771142-1771142
16 SERPINF1 NM_002615.7(SERPINF1):c.997+12G>A SNV Uncertain significance 890694 GRCh37: 17:1680048-1680048
GRCh38: 17:1776754-1776754
17 SERPINF1 NM_002615.7(SERPINF1):c.1057C>A (p.Leu353Met) SNV Uncertain significance 890695 GRCh37: 17:1680540-1680540
GRCh38: 17:1777246-1777246
18 SERPINF1 NM_002615.7(SERPINF1):c.1062T>C (p.Thr354=) SNV Uncertain significance 890696 GRCh37: 17:1680545-1680545
GRCh38: 17:1777251-1777251
19 SERPINF1 NM_002615.7(SERPINF1):c.1214C>T (p.Ala405Val) SNV Uncertain significance 890697 GRCh37: 17:1680697-1680697
GRCh38: 17:1777403-1777403
20 SERPINF1 NM_002615.7(SERPINF1):c.*37C>G SNV Uncertain significance 890698 GRCh37: 17:1680777-1680777
GRCh38: 17:1777483-1777483
21 SERPINF1 NM_002615.7(SERPINF1):c.221C>T (p.Pro74Leu) SNV Uncertain significance 891886 GRCh37: 17:1673282-1673282
GRCh38: 17:1769988-1769988
22 SERPINF1 NM_002615.7(SERPINF1):c.392C>A (p.Ala131Asp) SNV Uncertain significance 891887 GRCh37: 17:1674431-1674431
GRCh38: 17:1771137-1771137
23 SERPINF1 NM_002615.7(SERPINF1):c.*39C>T SNV Uncertain significance 891945 GRCh37: 17:1680779-1680779
GRCh38: 17:1777485-1777485
24 SERPINF1 NM_002615.7(SERPINF1):c.644-4C>T SNV Uncertain significance 669732 rs199977856 GRCh37: 17:1678348-1678348
GRCh38: 17:1775054-1775054
25 SERPINF1 NM_002615.7(SERPINF1):c.715G>A (p.Val239Met) SNV Uncertain significance 889435 GRCh37: 17:1678423-1678423
GRCh38: 17:1775129-1775129
26 SERPINF1 NM_002615.7(SERPINF1):c.808G>A (p.Gly270Arg) SNV Uncertain significance 890115 GRCh37: 17:1679847-1679847
GRCh38: 17:1776553-1776553
27 SERPINF1 NM_002615.7(SERPINF1):c.826T>A (p.Phe276Ile) SNV Uncertain significance 890116 GRCh37: 17:1679865-1679865
GRCh38: 17:1776571-1776571
28 SERPINF1 NM_002615.7(SERPINF1):c.835C>T (p.Pro279Ser) SNV Uncertain significance 890117 GRCh37: 17:1679874-1679874
GRCh38: 17:1776580-1776580
29 SERPINF1 NM_002615.7(SERPINF1):c.913C>G (p.Leu305Val) SNV Uncertain significance 890118 GRCh37: 17:1679952-1679952
GRCh38: 17:1776658-1776658
30 SERPINF1 NM_002615.7(SERPINF1):c.970G>A (p.Glu324Lys) SNV Uncertain significance 890119 GRCh37: 17:1680009-1680009
GRCh38: 17:1776715-1776715
31 SERPINF1 NM_002615.7(SERPINF1):c.15G>T (p.Val5=) SNV Uncertain significance 890646 GRCh37: 17:1670219-1670219
GRCh38: 17:1766925-1766925
32 SERPINF1 NM_002615.7(SERPINF1):c.42C>T (p.Leu14=) SNV Uncertain significance 890647 GRCh37: 17:1670246-1670246
GRCh38: 17:1766952-1766952
33 SERPINF1 NM_002615.7(SERPINF1):c.1112C>T (p.Thr371Ile) SNV Uncertain significance 322014 rs201562844 GRCh37: 17:1680595-1680595
GRCh38: 17:1777301-1777301
34 SERPINF1 NM_002615.7(SERPINF1):c.*87T>C SNV Uncertain significance 322017 rs886052650 GRCh37: 17:1680827-1680827
GRCh38: 17:1777533-1777533
35 SERPINF1 NM_002615.7(SERPINF1):c.85-14C>T SNV Uncertain significance 321998 rs200755661 GRCh37: 17:1673132-1673132
GRCh38: 17:1769838-1769838
36 SERPINF1 NM_002615.7(SERPINF1):c.840G>T (p.Leu280=) SNV Uncertain significance 322011 rs200114659 GRCh37: 17:1679879-1679879
GRCh38: 17:1776585-1776585
37 SERPINF1 NM_002615.7(SERPINF1):c.345C>T (p.Ser115=) SNV Uncertain significance 322002 rs886052648 GRCh37: 17:1674384-1674384
GRCh38: 17:1771090-1771090
38 SERPINF1 NM_002615.7(SERPINF1):c.713C>T (p.Thr238Ile) SNV Uncertain significance 322009 rs748011764 GRCh37: 17:1678421-1678421
GRCh38: 17:1775127-1775127
39 SERPINF1 NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) SNV Uncertain significance 218613 rs140512665 GRCh37: 17:1673303-1673303
GRCh38: 17:1770009-1770009
40 SERPINF1 NM_002615.7(SERPINF1):c.1119C>G (p.Pro373=) SNV Uncertain significance 322015 rs148717983 GRCh37: 17:1680602-1680602
GRCh38: 17:1777308-1777308
41 SERPINF1 NM_002615.7(SERPINF1):c.998-7T>A SNV Uncertain significance 322013 rs886052649 GRCh37: 17:1680474-1680474
GRCh38: 17:1777180-1777180
42 SERPINF1 NM_002615.7(SERPINF1):c.257C>T (p.Ala86Val) SNV Uncertain significance 322001 rs886052647 GRCh37: 17:1673318-1673318
GRCh38: 17:1770024-1770024
43 SERPINF1 NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu) SNV Uncertain significance 289666 rs143827025 GRCh37: 17:1673263-1673263
GRCh38: 17:1769969-1769969
44 SERPINF1 NM_002615.7(SERPINF1):c.643+6C>T SNV Uncertain significance 322006 rs199908714 GRCh37: 17:1675375-1675375
GRCh38: 17:1772081-1772081
45 SERPINF1 NM_002615.7(SERPINF1):c.756C>A (p.Arg252=) SNV Likely benign 322010 rs144006481 GRCh37: 17:1678464-1678464
GRCh38: 17:1775170-1775170
46 SERPINF1 NM_002615.7(SERPINF1):c.555G>A (p.Gln185=) SNV Likely benign 291232 rs34063250 GRCh37: 17:1675281-1675281
GRCh38: 17:1771987-1771987
47 SERPINF1 NM_002615.7(SERPINF1):c.643+8C>T SNV Likely benign 279577 rs149399910 GRCh37: 17:1675377-1675377
GRCh38: 17:1772083-1772083
48 SERPINF1 NM_002615.7(SERPINF1):c.395C>G (p.Pro132Arg) SNV Benign 322004 rs1804145 GRCh37: 17:1674434-1674434
GRCh38: 17:1771140-1771140
49 SERPINF1 NM_002615.7(SERPINF1):c.215C>T (p.Thr72Met) SNV Benign 322000 rs1136287 GRCh37: 17:1673276-1673276
GRCh38: 17:1769982-1769982
50 SERPINF1 NM_002615.7(SERPINF1):c.644-14A>T SNV Benign 322008 rs3891224 GRCh37: 17:1678338-1678338
GRCh38: 17:1775044-1775044

Expression for Osteogenesis Imperfecta, Type Vi

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

Pathways for Osteogenesis Imperfecta, Type Vi

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

# Super pathways Score Top Affiliating Genes
1 10.55 IBSP COL1A1
2 9.77 IBSP COL1A1

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 extracellular space GO:0005615 9.35 SOST SERPINF1 SERPINB11 IBSP COL1A1
2 collagen-containing extracellular matrix GO:0062023 9.33 SOST SERPINF1 COL1A1
3 endoplasmic reticulum lumen GO:0005788 8.8 PNPLA2 MEPE COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.5 PHEX MEPE COL1A1
2 ossification GO:0001503 9.43 SOST IBSP COL1A1
3 cellular response to retinoic acid GO:0071300 9.4 SERPINF1 COL1A1
4 response to mechanical stimulus GO:0009612 9.37 SOST COL1A1
5 cellular response to parathyroid hormone stimulus GO:0071374 9.16 SOST PHEX
6 bone mineralization GO:0030282 9.13 PHEX IFITM5 IBSP
7 biomineral tissue development GO:0031214 8.8 PHEX MEPE IBSP

Sources for Osteogenesis Imperfecta, Type Vi

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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