MCID: OST133
MIFTS: 31

Osteogenesis Imperfecta, Type Xi

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral 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 73
Osteogenesis Imperfecta Type Xi 12 53 75 40
Oi11 57 12 53 75
Osteogenesis Imperfecta Type 11 12 53 15
Oi Type Xi 53 75
Osteogenesis Imperfecta 11 75
Oi, Type Xi 57
Oi Type 11 53
Oi-Xi 75

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 recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xi

UniProtKB/Swiss-Prot : 75 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 iv and dentinogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta, Type Xi is FKBP10 (FK506 Binding Protein 10). Affiliated tissues include bone and skin, and related phenotypes are osteopenia 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)

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

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

Head And Neck Face:
triangular face

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

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

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

Human phenotypes related to Osteogenesis Imperfecta, Type Xi:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 scoliosis 32 HP:0002650
3 abnormality of the dentition 32 HP:0000164
4 short stature 32 HP:0004322
5 brachycephaly 32 HP:0000248
6 dentinogenesis imperfecta 32 HP:0000703
7 wormian bones 32 HP:0002645
8 protrusio acetabuli 32 HP:0003179
9 joint laxity 32 HP:0001388
10 vertebral wedging 32 HP:0008422
11 triangular face 32 HP:0000325
12 coxa vara 32 very rare (1%) HP:0002812
13 blue sclerae 32 HP:0000592
14 kyphoscoliosis 32 HP:0002751
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

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

Publications for Osteogenesis Imperfecta, Type Xi

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.976delA (p.Met326Trpfs) deletion Pathogenic rs869025223 GRCh37 Chromosome 17, 39975840: 39975840
2 FKBP10 NM_021939.3(FKBP10): c.976delA (p.Met326Trpfs) deletion Pathogenic rs869025223 GRCh38 Chromosome 17, 41819588: 41819588
3 FKBP10 NM_021939.3(FKBP10): c.1399+2T> G single nucleotide variant Pathogenic rs886044880 GRCh37 Chromosome 17, 39977343: 39977343
4 FKBP10 NM_021939.3(FKBP10): c.1399+2T> G single nucleotide variant Pathogenic rs886044880 GRCh38 Chromosome 17, 41821091: 41821091
5 FKBP10 NM_021939.3(FKBP10): c.831dup (p.Gly278Argfs) duplication Pathogenic rs781896189 GRCh38 Chromosome 17, 41819313: 41819313
6 FKBP10 NM_021939.3(FKBP10): c.831dup (p.Gly278Argfs) duplication Pathogenic rs781896189 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

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

# Name GO ID Score Top Affiliating Genes
1 chaperone-mediated protein folding GO:0061077 8.62 CRTAP FKBP10

Sources for Osteogenesis Imperfecta, Type Xi

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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