OI11
MCID: OST133
MIFTS: 32

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 57 29 13 6 72
Osteogenesis Imperfecta Type Xi 12 53 74 40
Oi11 57 12 53 74
Osteogenesis Imperfecta Type 11 12 53 15
Oi Type Xi 53 74
Osteogenesis Imperfecta 11 74
Oi, Type Xi 57
Oi Type 11 53
Oi-Xi 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
osteogenesis imperfecta, type xi:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110351
MeSH 44 D010013
ICD10 33 Q78.0
MedGen 42 C3151218
UMLS 72 C3151218

Summaries for Osteogenesis Imperfecta, Type Xi

UniProtKB/Swiss-Prot : 74 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 dentinogenesis imperfecta and brittle bone disorder. 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 osteopenia

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)

Related Diseases for Osteogenesis Imperfecta, Type Xi

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:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 coxa vara 32 very rare (1%) HP:0002812
2 osteopenia 32 HP:0000938
3 scoliosis 32 HP:0002650
4 abnormality of the dentition 32 HP:0000164
5 short stature 32 HP:0004322
6 brachycephaly 32 HP:0000248
7 dentinogenesis imperfecta 32 HP:0000703
8 wormian bones 32 HP:0002645
9 joint laxity 32 HP:0001388
10 kyphoscoliosis 32 HP:0002751
11 protrusio acetabuli 32 HP:0003179
12 vertebral wedging 32 HP:0008422
13 triangular face 32 HP:0000325
14 blue sclerae 32 HP:0000592
15 abnormality of the skin 32 HP:0000951
16 biconcave vertebral bodies 32 HP:0004586
17 increased susceptibility to fractures 32 HP:0002659
18 elevated alkaline phosphatase 32 HP:0003155
19 vertebral compression fractures 32 HP:0002953

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
Bone, Skin, T Cells

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. 8
22718341 2012
2
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. 8
22107750 2011
3
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 8
20839288 2011
4
FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? 8
20696291 2010
5
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. 8
20362275 2010
6
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 71
19358256 2009
7
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 71
18996919 2009
8
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. 71
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. 71
17078022 2007
10
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 71
16879195 2006
11
COL1A1/2-Related Osteogenesis Imperfecta 71
20301472 2005
12
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 71
15241796 2004
13
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 71
15024745 2004
14
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 71
11317364 2001
15
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 71
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. 71
8669434 1996
17
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 71
7942841 1994
18
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 71
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. 71
3722186 1986
20
Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. 71
1137656 1975
21
Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation. 38
30993005 2019
22
Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing. 38
29158687 2017
23
Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI. 38
27362741 2016
24
The T cell receptor V beta 6 domain imparts reactivity to the Mls-1a antigen. 38
2522825 1989

Variations for Osteogenesis Imperfecta, Type Xi

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xi:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FKBP10 NM_021939.3(FKBP10): c.831dup (p.Gly278fs) duplication Pathogenic rs137853883 17:39975565-39975565 17:41819313-41819313
2 FKBP10 NM_021939.3(FKBP10): c.976del (p.Met326fs) deletion Pathogenic rs869025223 17:39975840-39975840 17:41819588-41819588
3 FKBP10 NM_021939.3(FKBP10): c.890_897dup (p.Gly300Ter) duplication Pathogenic 17:39975624-39975631 17:41819372-41819379
4 FKBP10 NM_021939.3(FKBP10): c.1667G> A (p.Arg556His) single nucleotide variant Uncertain significance rs138281924 17:39978578-39978578 17:41822326-41822326

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 endoplasmic reticulum lumen GO:0005788 8.62 FKBP10 CRTAP

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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