OI11
MCID: OST133
MIFTS: 40

Osteogenesis Imperfecta, Type Xi (OI11)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Xi

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xi:

Name: Osteogenesis Imperfecta, Type Xi 56 29 13 6 71
Osteogenesis Imperfecta Type Xi 12 52 73 39
Oi11 56 12 52 73
Osteogenesis Imperfecta Type 11 12 52 15
Oi Type Xi 52 73
Osteogenesis Imperfecta 11 73
Oi, Type Xi 56
Oi Type 11 52
Oi-Xi 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
osteogenesis imperfecta, type xi:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xi

UniProtKB/Swiss-Prot : 73 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 brittle bone disorder and dentinogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta, Type Xi is FKBP10 (FKBP Prolyl Isomerase 10). Affiliated tissues include bone, skin and t cells, 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 : 56 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)

Related Diseases for Osteogenesis Imperfecta, Type Xi

Diseases in the Osteogenesis Imperfecta, Type Iii family:

Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta, Type Ii
Osteogenesis Imperfecta, Type Iv 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

Diseases related to Osteogenesis Imperfecta, Type Xi via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 brittle bone disorder 10.4
2 dentinogenesis imperfecta 10.2
3 muscular atrophy 10.2
4 skeletal dysplasias 10.2
5 osteogenesis imperfecta, type xiv 10.1 MNS1 DNAH9
6 osteogenesis imperfecta, type xii 10.1 FKBP10 DNAH9
7 ciliary dyskinesia, primary, 8 10.0 DNAI1 CCDC114
8 ciliary dyskinesia, primary, 4 10.0 DNAI1 CCDC114
9 dextro-looped transposition of the great arteries 9.9 DNAI1 ARMC4
10 acute retrobulbar neuritis 9.9 DNAI2 DNAI1
11 dextrocardia 9.9 DNAI1 ARMC4
12 middle ear disease 9.7 DNAI2 DNAI1
13 paranasal sinus disease 9.6 DNAI2 DNAI1
14 bronchiectasis 9.5 DNAI2 DNAI1
15 situs inversus 9.0 DNAI2 DNAI1 DNAH9 CCDC114 ARMC4
16 ciliary dyskinesia, primary, 1 8.7 DNALI1 DNAI2 DNAI1 DNAH9 CCDC114 ARMC4
17 visceral heterotaxy 8.2 GAS8 DNALI1 DNAI2 DNAI1 DNAH9 CCDC114
18 kartagener syndrome 8.0 MNS1 GAS8 DNALI1 DNAI2 DNAI1 DNAH9
19 primary ciliary dyskinesia 8.0 MNS1 GAS8 DNALI1 DNAI2 DNAI1 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 dentinogenesis imperfecta 31 HP:0000703
8 wormian bones 31 HP:0002645
9 joint laxity 31 HP:0001388
10 kyphoscoliosis 31 HP:0002751
11 protrusio acetabuli 31 HP:0003179
12 increased susceptibility to fractures 31 HP:0002659
13 vertebral wedging 31 HP:0008422
14 triangular face 31 HP:0000325
15 blue sclerae 31 HP:0000592
16 abnormality of the skin 31 HP:0000951
17 biconcave vertebral bodies 31 HP:0004586
18 elevated alkaline phosphatase 31 HP:0003155
19 vertebral compression fractures 31 HP:0002953

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Xi:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.02 ARMC4 DNAI1 DNAI2 GAS8 MNS1

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, Skin, T Cells, Eye

Publications for Osteogenesis Imperfecta, Type Xi

Articles related to Osteogenesis Imperfecta, Type Xi:

(show all 24)
# Title Authors PMID Year
1
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. 56
22718341 2012
2
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. 56
22107750 2011
3
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 56
20839288 2011
4
FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? 56
20696291 2010
5
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. 56
20362275 2010
6
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 6
19358256 2009
7
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 6
18996919 2009
8
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. 6
18311573 2008
9
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 6
17078022 2007
10
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 6
16879195 2006
11
COL1A1/2 Osteogenesis Imperfecta 6
20301472 2005
12
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 6
15241796 2004
13
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 6
15024745 2004
14
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 6
11317364 2001
15
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 6
11113887 2000
16
Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. 6
8669434 1996
17
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 6
7942841 1994
18
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 6
2037280 1991
19
The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains. 6
3722186 1986
20
Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. 6
1137656 1975
21
Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation. 61
30993005 2019
22
Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing. 61
29158687 2017
23
Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI. 61
27362741 2016
24
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 all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FKBP10 NM_021939.3(FKBP10):c.976del (p.Met326fs)deletion Pathogenic 222952 rs869025223 17:39975840-39975840 17:41819588-41819588
2 FKBP10 NM_021939.3(FKBP10):c.831dup (p.Gly278fs)duplication Pathogenic 438659 rs137853883 17:39975558-39975559 17:41819306-41819307
3 FKBP10 NM_021939.3(FKBP10):c.890_897dup (p.Gly300Ter)duplication Pathogenic 631496 rs1567855132 17:39975623-39975624 17:41819371-41819372
4 FKBP10 NM_021939.4(FKBP10):c.106C>A (p.Pro36Thr)SNV Likely pathogenic 684394 17:39969392-39969392 17:41813140-41813140
5 FKBP10 NM_021939.4(FKBP10):c.134T>A (p.Val45Asp)SNV Likely pathogenic 684395 17:39969420-39969420 17:41813168-41813168
6 FKBP10 NM_021939.4(FKBP10):c.370G>T (p.Gly124Cys)SNV Likely pathogenic 684396 17:39973434-39973434 17:41817182-41817182
7 FKBP10 NM_021939.3(FKBP10):c.590A>G (p.Lys197Arg)SNV Conflicting interpretations of pathogenicity 261438 rs34764749 17:39974642-39974642 17:41818390-41818390
8 FKBP10 NM_021939.3(FKBP10):c.21C>T (p.Pro7=)SNV Conflicting interpretations of pathogenicity 286621 rs781985978 17:39969307-39969307 17:41813055-41813055
9 FKBP10 NM_021939.3(FKBP10):c.917+53G>TSNV Uncertain significance 191077 rs141387386 17:39975704-39975704 17:41819452-41819452
10 FKBP10 NM_021939.3(FKBP10):c.1667G>A (p.Arg556His)SNV Uncertain significance 193735 rs138281924 17:39978578-39978578 17:41822326-41822326
11 FKBP10 NM_021939.4(FKBP10):c.100G>A (p.Ala34Thr)SNV Uncertain significance 684398 17:39969386-39969386 17:41813134-41813134
12 FKBP10 NM_021939.4(FKBP10):c.1522G>A (p.Asp508Asn)SNV Uncertain significance 684403 17:39978028-39978028 17:41821776-41821776
13 FKBP10 NM_021939.4(FKBP10):c.1399+51deldeletion Likely benign 694418 17:39977364-39977364 17:41821112-41821112
14 FKBP10 NM_021939.4(FKBP10):c.1014C>T (p.Arg338=)SNV Benign/Likely benign 684402 17:39975878-39975878 17:41819626-41819626
15 FKBP10 NM_021939.4(FKBP10):c.492G>A (p.Pro164=)SNV Benign/Likely benign 684400 17:39974441-39974441 17:41818189-41818189
16 FKBP10 NM_021939.3(FKBP10):c.732A>G (p.Thr244=)SNV Benign/Likely benign 323186 rs8078775 17:39975466-39975466 17:41819214-41819214
17 FKBP10 NM_021939.4(FKBP10):c.99C>A (p.Arg33=)SNV Benign 684397 17:39969385-39969385 17:41813133-41813133
18 FKBP10 NM_021939.4(FKBP10):c.906C>A (p.Leu302=)SNV Benign 684401 17:39975640-39975640 17:41819388-41819388
19 FKBP10 NM_021939.4(FKBP10):c.363C>T (p.Pro121=)SNV Benign 684399 17:39973427-39973427 17:41817175-41817175

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 9.91 GAS8 DNALI1 DNAI2 DNAI1 DNAH9 CCDC114
2 cytoskeleton GO:0005856 9.88 GAS8 DNAI2 DNAI1 DNAH9 ARMC4
3 microtubule GO:0005874 9.73 GAS8 DNAI2 DNAI1 DNAH9
4 motile cilium GO:0031514 9.63 MNS1 GAS8 DNAH9
5 sperm flagellum GO:0036126 9.58 MNS1 GAS8 DNAI2
6 outer dynein arm GO:0036157 9.5 DNAI2 DNAI1 CCDC114
7 cilium GO:0005929 9.5 GAS8 DNALI1 DNAI2 DNAI1 DNAH9 CCDC114
8 dynein complex GO:0030286 9.46 DNALI1 DNAI2 DNAI1 DNAH9
9 9+2 motile cilium GO:0097729 9.43 GAS8 DNALI1 DNAH9
10 axoneme GO:0005930 9.17 MNS1 GAS8 DNALI1 DNAI2 DNAH9 CCDC114

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

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.56 DNAI2 DNAI1 DNAH9 ARMC4
2 microtubule-based movement GO:0007018 9.5 DNAI2 DNAI1 DNAH9
3 determination of left/right symmetry GO:0007368 9.46 GAS8 DNAI2 DNAI1 ARMC4
4 flagellated sperm motility GO:0030317 9.4 GAS8 DNAI1
5 epithelial cilium movement GO:0003351 9.37 GAS8 DNAI1
6 outer dynein arm assembly GO:0036158 9.26 DNAI2 DNAI1 CCDC114 ARMC4
7 cilium movement GO:0003341 9.02 DNAI2 DNAI1 DNAH9 CCDC114 ARMC4

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

# Name GO ID Score Top Affiliating Genes
1 microtubule motor activity GO:0003777 9.32 DNAI2 DNAH9
2 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.26 DNAI2 DNAI1
3 motor activity GO:0003774 9.26 DNALI1 DNAI2 DNAI1 DNAH9
4 dynein light chain binding GO:0045503 9.16 DNAI2 DNAI1
5 dynein heavy chain binding GO:0045504 8.8 DNALI1 DNAI2 DNAI1

Sources for Osteogenesis Imperfecta, Type Xi

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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