OI11
MCID: OST133
MIFTS: 38

Osteogenesis Imperfecta, Type Xi (OI11)

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 Xi

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xi:

Name: Osteogenesis Imperfecta, Type Xi 57 29 13 6 70
Osteogenesis Imperfecta Type Xi 12 20 72 39
Oi11 57 12 20 72
Osteogenesis Imperfecta Type 11 12 20 15
Oi Type Xi 20 72
Osteogenesis Imperfecta 11 72
Oi, Type Xi 57
Oi Type 11 20
Oi-Xi 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of fractures 4-18 months of life
severe ambulatory restriction


HPO:

31
osteogenesis imperfecta, type xi:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xi

UniProtKB/Swiss-Prot : 72 Osteogenesis imperfecta 11: 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. OI11 is an autosomal recessive form.

MalaCards based summary : Osteogenesis Imperfecta, Type Xi, also known as osteogenesis imperfecta type xi, is related to osteogenesis imperfecta, type xii and brittle bone disorder. An important gene associated with Osteogenesis Imperfecta, Type Xi is FKBP10 (FKBP Prolyl Isomerase 10). Affiliated tissues include bone, and related phenotypes are coxa vara and scoliosis

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the FKBP10 gene on chromosome 17q21.

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. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010). (610968) (Updated 05-Apr-2021)

Related Diseases for Osteogenesis Imperfecta, Type Xi

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type xii 30.0 FKBP10 DNAH9
2 brittle bone disorder 10.4
3 dentinogenesis imperfecta 10.1
4 muscular atrophy 10.1
5 skeletal dysplasias 10.1
6 osteogenesis imperfecta, type xiv 10.0 MNS1 DNAH9
7 dextrocardia with situs inversus 9.9 MNS1 DNAH9
8 situs inversus 9.8 ODAD1 MNS1 DNAH9
9 ciliary dyskinesia, primary, 2 9.8 DNALI1 DNAH9
10 right atrial isomerism 9.6 DNALI1 DNAH9
11 ciliary dyskinesia, primary, 1 9.4 ODAD2 ODAD1 DNALI1 DNAH9
12 male infertility 9.4 ODAD2 MNS1 DNALI1 DNAH9
13 visceral heterotaxy 8.8 ODAD2 ODAD1 MNS1 GAS8 DNALI1 DNAH9
14 kartagener syndrome 8.8 ODAD2 ODAD1 MNS1 GAS8 DNALI1 DNAH9
15 primary ciliary dyskinesia 8.7 ODAD2 ODAD1 MNS1 GAS8 DNALI1 DNAH9

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



Diseases related to Osteogenesis Imperfecta, Type Xi

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xi

Human phenotypes related to Osteogenesis Imperfecta, Type Xi:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 coxa vara 31 very rare (1%) HP:0002812
2 scoliosis 31 HP:0002650
3 osteopenia 31 HP:0000938
4 abnormality of the dentition 31 HP:0000164
5 short stature 31 HP:0004322
6 brachycephaly 31 HP:0000248
7 joint laxity 31 HP:0001388
8 kyphoscoliosis 31 HP:0002751
9 protrusio acetabuli 31 HP:0003179
10 wormian bones 31 HP:0002645
11 blue sclerae 31 HP:0000592
12 triangular face 31 HP:0000325
13 vertebral wedging 31 HP:0008422
14 abnormality of the skin 31 HP:0000951
15 dentinogenesis imperfecta 31 HP:0000703
16 biconcave vertebral bodies 31 HP:0004586
17 increased susceptibility to fractures 31 HP:0002659
18 vertebral compression fractures 31 HP:0002953
19 elevated alkaline phosphatase 31 HP:0003155

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
osteopenia
joint laxity
moderate to severe bone fragility
moderately deforming osteogenesis imperfecta
decreased bone mineral density z score

Skeletal Spine:
kyphoscoliosis
biconcave vertebrae
wedge-shaped vertebrae
vertebral compression fractures (8/8 patients)
scoliosis (5/8 patients)

Skin Nails Hair Skin:
normal skin
no easy bruisability

Skeletal Skull:
wormian bones (in some patients)

Growth Weight:
birth weight normal

Head And Neck Teeth:
dentinogenesis imperfecta (in one family)

Skeletal Limbs:
bulbous metaphyses (2/8 patients)
bowed extremities
long bone deformity

Head And Neck Head:
brachycephaly

Head And Neck Face:
triangular face

Laboratory Abnormalities:
elevated serum alkaline phosphatase

Growth Height:
short stature (childhood)
birth length normal

Head And Neck Eyes:
white to faintly blue sclera

Skeletal Pelvis:
unilateral/bilateral coxa vara (5/8 patients)
protrusio acetabuli (4/8 patients)
'fish-scale' pattern of lamellae
increased osteoid volume
hyperosteoidosis

Clinical features from OMIM®:

610968 (Updated 05-Apr-2021)

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xi

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

Genetic Tests for Osteogenesis Imperfecta, Type Xi

Genetic tests related to Osteogenesis Imperfecta, Type Xi:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta, Type Xi 29 FKBP10

Anatomical Context for Osteogenesis Imperfecta, Type Xi

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

40
Bone

Publications for Osteogenesis Imperfecta, Type Xi

Articles related to Osteogenesis Imperfecta, Type Xi:

(show all 11)
# Title Authors PMID Year
1
Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI. 6 61
27362741 2016
2
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. 6
30715774 2019
3
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. 57
22718341 2012
4
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. 57
22107750 2011
5
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 57
20839288 2011
6
FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? 57
20696291 2010
7
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. 57
20362275 2010
8
Osteogenesis imperfecta Type XI: A rare cause of severe infantile cervical kyphosis. 61
32952755 2020
9
Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation. 61
30993005 2019
10
Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing. 61
29158687 2017
11
The T cell receptor V beta 6 domain imparts reactivity to the Mls-1a antigen. 61
2522825 1989

Variations for Osteogenesis Imperfecta, Type Xi

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xi:

6 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FKBP10 NM_021939.3(FKBP10):c.976del (p.Met326fs) Deletion Pathogenic 222952 rs869025223 GRCh37: 17:39975840-39975840
GRCh38: 17:41819588-41819588
2 FKBP10 NM_021939.3(FKBP10):c.831dup (p.Gly278fs) Duplication Pathogenic 438659 rs137853883 GRCh37: 17:39975558-39975559
GRCh38: 17:41819306-41819307
3 FKBP10 NM_021939.3(FKBP10):c.890_897dup (p.Gly300Ter) Duplication Pathogenic 631496 rs1567855132 GRCh37: 17:39975623-39975624
GRCh38: 17:41819371-41819372
4 FKBP10 NM_021939.4(FKBP10):c.918-6T>G SNV Likely pathogenic 989304 GRCh37: 17:39975776-39975776
GRCh38: 17:41819524-41819524
5 FKBP10 NM_021939.4(FKBP10):c.106C>A (p.Pro36Thr) SNV Likely pathogenic 684394 rs1597902342 GRCh37: 17:39969392-39969392
GRCh38: 17:41813140-41813140
6 FKBP10 NM_021939.4(FKBP10):c.134T>A (p.Val45Asp) SNV Likely pathogenic 684395 rs1374482728 GRCh37: 17:39969420-39969420
GRCh38: 17:41813168-41813168
7 FKBP10 NM_021939.4(FKBP10):c.370G>T (p.Gly124Cys) SNV Likely pathogenic 684396 rs1597905563 GRCh37: 17:39973434-39973434
GRCh38: 17:41817182-41817182
8 FKBP10 NM_021939.3(FKBP10):c.590A>G (p.Lys197Arg) SNV Conflicting interpretations of pathogenicity 261438 rs34764749 GRCh37: 17:39974642-39974642
GRCh38: 17:41818390-41818390
9 FKBP10 NM_021939.3(FKBP10):c.21C>T (p.Pro7=) SNV Conflicting interpretations of pathogenicity 286621 rs781985978 GRCh37: 17:39969307-39969307
GRCh38: 17:41813055-41813055
10 FKBP10 NM_021939.3(FKBP10):c.587G>A (p.Ser196Asn) SNV Uncertain significance 323185 rs782660556 GRCh37: 17:39974639-39974639
GRCh38: 17:41818387-41818387
11 FKBP10 NM_021939.4(FKBP10):c.*747C>T SNV Uncertain significance 888895 GRCh37: 17:39979407-39979407
GRCh38: 17:41823155-41823155
12 FKBP10 NM_021939.4(FKBP10):c.1367T>C (p.Val456Ala) SNV Uncertain significance 888821 GRCh37: 17:39977309-39977309
GRCh38: 17:41821057-41821057
13 FKBP10 NM_021939.4(FKBP10):c.1366G>A (p.Val456Met) SNV Uncertain significance 888820 GRCh37: 17:39977308-39977308
GRCh38: 17:41821056-41821056
14 FKBP10 NM_021939.4(FKBP10):c.1323G>A (p.Thr441=) SNV Uncertain significance 888819 GRCh37: 17:39977265-39977265
GRCh38: 17:41821013-41821013
15 FKBP10 NM_021939.4(FKBP10):c.1308C>T (p.Ile436=) SNV Uncertain significance 888818 GRCh37: 17:39977250-39977250
GRCh38: 17:41820998-41820998
16 FKBP10 NM_021939.4(FKBP10):c.1286C>T (p.Thr429Ile) SNV Uncertain significance 888817 GRCh37: 17:39977228-39977228
GRCh38: 17:41820976-41820976
17 FKBP10 NM_021939.3(FKBP10):c.1556C>T (p.Pro519Leu) SNV Uncertain significance 618655 rs140883152 GRCh37: 17:39978062-39978062
GRCh38: 17:41821810-41821810
18 FKBP10 NM_021939.3(FKBP10):c.850G>A (p.Gly284Arg) SNV Uncertain significance 618130 rs372214186 GRCh37: 17:39975584-39975584
GRCh38: 17:41819332-41819332
19 FKBP10 NM_021939.4(FKBP10):c.408G>A (p.Pro136=) SNV Uncertain significance 890440 GRCh37: 17:39974357-39974357
GRCh38: 17:41818105-41818105
20 FKBP10 NM_021939.4(FKBP10):c.491C>T (p.Pro164Leu) SNV Uncertain significance 890441 GRCh37: 17:39974440-39974440
GRCh38: 17:41818188-41818188
21 FKBP10 NM_021939.4(FKBP10):c.1382C>T (p.Ala461Val) SNV Uncertain significance 890518 GRCh37: 17:39977324-39977324
GRCh38: 17:41821072-41821072
22 FKBP10 NM_021939.4(FKBP10):c.1400-6C>T SNV Uncertain significance 890519 GRCh37: 17:39977900-39977900
GRCh38: 17:41821648-41821648
23 FKBP10 NM_021939.4(FKBP10):c.1403G>A (p.Arg468Gln) SNV Uncertain significance 890520 GRCh37: 17:39977909-39977909
GRCh38: 17:41821657-41821657
24 FKBP10 NM_021939.4(FKBP10):c.1454G>A (p.Arg485Gln) SNV Uncertain significance 890521 GRCh37: 17:39977960-39977960
GRCh38: 17:41821708-41821708
25 FKBP10 NM_021939.4(FKBP10):c.1290C>T (p.Leu430=) SNV Uncertain significance 733387 rs143450797 GRCh37: 17:39977232-39977232
GRCh38: 17:41820980-41820980
26 FKBP10 NC_000017.11:g.41812946G>A SNV Uncertain significance 888740 GRCh37: 17:39969198-39969198
GRCh38: 17:41812946-41812946
27 FKBP10 NC_000017.11:g.41813000C>A SNV Uncertain significance 888741 GRCh37: 17:39969252-39969252
GRCh38: 17:41813000-41813000
28 FKBP10 NC_000017.11:g.41812764G>C SNV Uncertain significance 892177 GRCh37: 17:39969016-39969016
GRCh38: 17:41812764-41812764
29 FKBP10 NM_021939.4(FKBP10):c.942T>C (p.Asn314=) SNV Uncertain significance 812015 rs376553350 GRCh37: 17:39975806-39975806
GRCh38: 17:41819554-41819554
30 FKBP10 NM_021939.3(FKBP10):c.473T>C (p.Val158Ala) SNV Uncertain significance 323181 rs781874365 GRCh37: 17:39974422-39974422
GRCh38: 17:41818170-41818170
31 FKBP10 NM_021939.3(FKBP10):c.1363A>G (p.Ile455Val) SNV Uncertain significance 618129 rs146701946 GRCh37: 17:39977305-39977305
GRCh38: 17:41821053-41821053
32 FKBP10 NM_021939.3(FKBP10):c.520G>A (p.Gly174Ser) SNV Uncertain significance 323183 rs140950528 GRCh37: 17:39974469-39974469
GRCh38: 17:41818217-41818217
33 FKBP10 NM_021939.3(FKBP10):c.1667G>A (p.Arg556His) SNV Uncertain significance 193735 rs138281924 GRCh37: 17:39978578-39978578
GRCh38: 17:41822326-41822326
34 FKBP10 NM_021939.3(FKBP10):c.1667G>A (p.Arg556His) SNV Uncertain significance 193735 rs138281924 GRCh37: 17:39978578-39978578
GRCh38: 17:41822326-41822326
35 FKBP10 NM_021939.3(FKBP10):c.917+53G>T SNV Uncertain significance 191077 rs141387386 GRCh37: 17:39975704-39975704
GRCh38: 17:41819452-41819452
36 FKBP10 NM_021939.4(FKBP10):c.1029C>G (p.Ile343Met) SNV Uncertain significance 1030777 GRCh37: 17:39975893-39975893
GRCh38: 17:41819641-41819641
37 FKBP10 NM_021939.3(FKBP10):c.246-5C>G SNV Uncertain significance 195370 rs140027863 GRCh37: 17:39973305-39973305
GRCh38: 17:41817053-41817053
38 FKBP10 NM_021939.4(FKBP10):c.*760G>A SNV Uncertain significance 888896 GRCh37: 17:39979420-39979420
GRCh38: 17:41823168-41823168
39 FKBP10 NM_021939.4(FKBP10):c.268G>A (p.Ala90Thr) SNV Uncertain significance 890438 GRCh37: 17:39973332-39973332
GRCh38: 17:41817080-41817080
40 FKBP10 NM_021939.4(FKBP10):c.100G>A (p.Ala34Thr) SNV Uncertain significance 684398 rs1367029793 GRCh37: 17:39969386-39969386
GRCh38: 17:41813134-41813134
41 FKBP10 NM_021939.4(FKBP10):c.1522G>A (p.Asp508Asn) SNV Uncertain significance 684403 rs1597910363 GRCh37: 17:39978028-39978028
GRCh38: 17:41821776-41821776
42 FKBP10 NM_021939.4(FKBP10):c.522C>T (p.Gly174=) SNV Uncertain significance 891008 GRCh37: 17:39974471-39974471
GRCh38: 17:41818219-41818219
43 FKBP10 NM_021939.4(FKBP10):c.591G>A (p.Lys197=) SNV Uncertain significance 891009 GRCh37: 17:39974643-39974643
GRCh38: 17:41818391-41818391
44 FKBP10 NM_021939.4(FKBP10):c.616G>A (p.Gly206Ser) SNV Uncertain significance 891010 GRCh37: 17:39974668-39974668
GRCh38: 17:41818416-41818416
45 FKBP10 NM_021939.4(FKBP10):c.792G>A (p.Pro264=) SNV Uncertain significance 891011 GRCh37: 17:39975526-39975526
GRCh38: 17:41819274-41819274
46 FKBP10 NM_021939.4(FKBP10):c.1693G>A (p.Asp565Asn) SNV Uncertain significance 891078 GRCh37: 17:39978604-39978604
GRCh38: 17:41822352-41822352
47 FKBP10 NM_021939.4(FKBP10):c.*125C>T SNV Uncertain significance 891079 GRCh37: 17:39978785-39978785
GRCh38: 17:41822533-41822533
48 FKBP10 NM_021939.4(FKBP10):c.*197T>A SNV Uncertain significance 891080 GRCh37: 17:39978857-39978857
GRCh38: 17:41822605-41822605
49 FKBP10 NM_021939.4(FKBP10):c.*293G>A SNV Uncertain significance 891081 GRCh37: 17:39978953-39978953
GRCh38: 17:41822701-41822701
50 FKBP10 NM_021939.4(FKBP10):c.1256+11G>A SNV Uncertain significance 892237 GRCh37: 17:39976724-39976724
GRCh38: 17:41820472-41820472

Expression for Osteogenesis Imperfecta, Type Xi

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

Pathways for Osteogenesis Imperfecta, Type Xi

GO Terms for Osteogenesis Imperfecta, Type Xi

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.77 ODAD2 ODAD1 GAS8 DNALI1 DNAH9
2 motile cilium GO:0031514 9.46 MNS1 GAS8 DNALI1 DNAH9
3 sperm flagellum GO:0036126 9.43 MNS1 DNALI1
4 dynein complex GO:0030286 9.4 DNALI1 DNAH9
5 cilium GO:0005929 9.35 ODAD2 ODAD1 GAS8 DNALI1 DNAH9
6 9+2 motile cilium GO:0097729 9.32 DNALI1 DNAH9
7 outer dynein arm GO:0036157 9.26 ODAD1 DNAH9
8 axoneme GO:0005930 9.1 ODAD2 ODAD1 MNS1 GAS8 DNALI1 DNAH9

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

# Name GO ID Score Top Affiliating Genes
1 outer dynein arm assembly GO:0036158 8.96 ODAD2 ODAD1
2 cilium movement GO:0003341 8.8 ODAD2 ODAD1 DNAH9

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

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 8.62 DNALI1 DNAH9

Sources for Osteogenesis Imperfecta, Type Xi

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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