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 58 30 13 6 74
Osteogenesis Imperfecta Type Xi 12 54 76 41
Oi11 58 12 54 76
Osteogenesis Imperfecta Type 11 12 54 15
Oi Type Xi 54 76
Osteogenesis Imperfecta 11 76
Oi, Type Xi 58
Oi Type 11 54
Oi-Xi 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
osteogenesis imperfecta, type xi:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xi

UniProtKB/Swiss-Prot : 76 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 eye, 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 : 58 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:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 coxa vara 33 very rare (1%) HP:0002812
2 osteopenia 33 HP:0000938
3 scoliosis 33 HP:0002650
4 abnormality of the dentition 33 HP:0000164
5 short stature 33 HP:0004322
6 brachycephaly 33 HP:0000248
7 dentinogenesis imperfecta 33 HP:0000703
8 wormian bones 33 HP:0002645
9 joint laxity 33 HP:0001388
10 kyphoscoliosis 33 HP:0002751
11 protrusio acetabuli 33 HP:0003179
12 vertebral wedging 33 HP:0008422
13 triangular face 33 HP:0000325
14 blue sclerae 33 HP:0000592
15 abnormality of the skin 33 HP:0000951
16 biconcave vertebral bodies 33 HP:0004586
17 increased susceptibility to fractures 33 HP:0002659
18 elevated alkaline phosphatase 33 HP:0003155
19 vertebral compression fractures 33 HP:0002953

Symptoms via clinical synopsis from OMIM:

58
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 30 FKBP10

Anatomical Context for Osteogenesis Imperfecta, Type Xi

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

42
Bone, Skin, Eye

Publications for Osteogenesis Imperfecta, Type Xi

Articles related to Osteogenesis Imperfecta, Type Xi:

# Title Authors Year
1
Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation. ( 30993005 )
2019
2
Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing. ( 29158687 )
2017
3
Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI. ( 27362741 )
2016

Variations for Osteogenesis Imperfecta, Type Xi

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xi:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FKBP10 NM_021939.3(FKBP10): c.1667G> A (p.Arg556His) single nucleotide variant Uncertain significance rs138281924 GRCh37 Chromosome 17, 39978578: 39978578
2 FKBP10 NM_021939.3(FKBP10): c.1667G> A (p.Arg556His) single nucleotide variant Uncertain significance rs138281924 GRCh38 Chromosome 17, 41822326: 41822326
3 FKBP10 NM_021939.3(FKBP10): c.976delA (p.Met326Trpfs) deletion Pathogenic rs869025223 GRCh37 Chromosome 17, 39975840: 39975840
4 FKBP10 NM_021939.3(FKBP10): c.976delA (p.Met326Trpfs) deletion Pathogenic rs869025223 GRCh38 Chromosome 17, 41819588: 41819588
5 FKBP10 NM_021939.3(FKBP10): c.831dup (p.Gly278Argfs) duplication Pathogenic rs137853883 GRCh38 Chromosome 17, 41819313: 41819313
6 FKBP10 NM_021939.3(FKBP10): c.831dup (p.Gly278Argfs) duplication Pathogenic rs137853883 GRCh37 Chromosome 17, 39975565: 39975565

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 CRTAP FKBP10

Sources for Osteogenesis Imperfecta, Type Xi

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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