OI12
MCID: OST128
MIFTS: 31

Osteogenesis Imperfecta, Type Xii (OI12)

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Xii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xii:

Name: Osteogenesis Imperfecta, Type Xii 57 13 40 72
Osteogenesis Imperfecta Type 12 12 29 6 15
Oi12 57 12 74
Osteogenesis Imperfecta Type Xii 12 74
Osteogenesis Imperfecta Sillence Type Iii 74
Osteogenesis Imperfecta 12 74
Oi, Type Xii 57
Oi Type Xii 74
Oi-Xii 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of fractures in the first or second decade of life
onset of hearing loss in the second decade of life


HPO:

32
osteogenesis imperfecta, type xii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110348
MeSH 44 D010013
ICD10 33 Q78.0
UMLS 72 C3151433

Summaries for Osteogenesis Imperfecta, Type Xii

UniProtKB/Swiss-Prot : 74 Osteogenesis imperfecta 12: 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. OI12 is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae.

MalaCards based summary : Osteogenesis Imperfecta, Type Xii, also known as osteogenesis imperfecta type 12, is related to osteogenesis imperfecta, type iv. An important gene associated with Osteogenesis Imperfecta, Type Xii is SP7 (Sp7 Transcription Factor). Affiliated tissues include bone and heart, and related phenotypes are abnormality of cardiovascular system morphology and malar flattening

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the SP7 gene on chromosome 12q13.

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 XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010). (613849)

Related Diseases for Osteogenesis Imperfecta, Type Xii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xii

Human phenotypes related to Osteogenesis Imperfecta, Type Xii:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
2 malar flattening 32 HP:0000272
3 high palate 32 HP:0000218
4 scoliosis 32 HP:0002650
5 prominent supraorbital ridges 32 HP:0000336
6 depressed nasal bridge 32 HP:0005280
7 pectus carinatum 32 HP:0000768
8 short stature 32 HP:0004322
9 prominent forehead 32 HP:0011220
10 micrognathia 32 HP:0000347
11 delayed eruption of teeth 32 HP:0000684
12 wormian bones 32 HP:0002645
13 narrow mouth 32 HP:0000160
14 motor delay 32 HP:0001270
15 facial asymmetry 32 HP:0000324
16 midface retrusion 32 HP:0011800
17 brachyturricephaly 32 HP:0000244
18 progressive hearing impairment 32 HP:0001730
19 generalized osteoporosis 32 HP:0040160

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
prominent supraorbital ridges
midface hypoplasia
facial asymmetry, mild

Head And Neck Nose:
depressed nasal bridge

Growth Height:
short stature

Skeletal Skull:
wormian bones

Neurologic Central Nervous System:
delayed motor milestones

Head And Neck Teeth:
delayed teeth eruption
no dentinogenesis imperfecta

Skeletal Limbs:
bowing of lower limbs
bowing of upper limbs

Cardiovascular Heart:
congenital heart disease (rare)

Head And Neck Eyes:
prominent supraorbital ridges
normal sclerae

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Head And Neck Mouth:
micrognathia
high-arched palate
microstomia

Skeletal:
generalized osteoporosis
repeated bone fractures
mild bone deformities

Head And Neck Head:
high, prominent forehead

Skeletal Spine:
scoliosis, mild

Head And Neck Ears:
progressive hearing loss, severe-to-profound

Skeletal Hands:
hyperextensibility of the interphalangeal joints

Clinical features from OMIM:

613849

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xii

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

Genetic Tests for Osteogenesis Imperfecta, Type Xii

Genetic tests related to Osteogenesis Imperfecta, Type Xii:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 12 29 SP7

Anatomical Context for Osteogenesis Imperfecta, Type Xii

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

41
Bone, Heart

Publications for Osteogenesis Imperfecta, Type Xii

Articles related to Osteogenesis Imperfecta, Type Xii:

(show all 27)
# Title Authors PMID Year
1
Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment. 8 71
29382611 2018
2
Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. 8 71
20579626 2010
3
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. 71
22949511 2013
4
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. 71
22718341 2012
5
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. 71
22689593 2012
6
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. 71
22107750 2011
7
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. 71
21567934 2011
8
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 71
20839288 2011
9
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. 71
20362275 2010
10
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 71
19358256 2009
11
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 71
18996919 2009
12
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. 71
18311573 2008
13
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
14
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 71
16879195 2006
15
COL1A1/2-Related Osteogenesis Imperfecta 71
20301472 2005
16
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 71
15241796 2004
17
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 71
15024745 2004
18
The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. 8
11792318 2002
19
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 71
11317364 2001
20
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 71
11113887 2000
21
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
22
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 71
7942841 1994
23
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 71
2037280 1991
24
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
25
Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. 71
1137656 1975
26
From the Ternary Eu(Au/In)2 and EuAu4(Au/In)2 with Remarkable Au/In Distributions to a New Structure Type: The Gold-Rich Eu5Au16(Au/In)6 Structure. 38
26270622 2015
27
Rich stoichiometries of stable Ca-Bi system: structure prediction and superconductivity. 38
25790859 2015

Variations for Osteogenesis Imperfecta, Type Xii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xii:

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 SP7 NM_152860.2(SP7): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic 12:53722280-53722280 12:53328496-53328496
3 FKBP10 FKBP10, 33-BP DEL, NT321 deletion Pathogenic
4 SP7 SP7, 1-BP DEL, 1052A deletion Pathogenic
5 FKBP10 FKBP10, 35-BP DEL, NT122 deletion Pathogenic
6 FKBP10 NM_021939.3(FKBP10): c.1207C> T (p.Arg403Ter) single nucleotide variant Pathogenic rs372896892 17:39976664-39976664 17:41820412-41820412
7 FKBP10 NM_021939.3(FKBP10): c.1271_1272delinsA (p.Ala424fs) indel Pathogenic rs397509383 17:39977213-39977214 17:41820961-41820962
8 FKBP10 NM_021939.3(FKBP10): c.948dup (p.Ile317fs) duplication Pathogenic rs387907325 17:39975812-39975812 17:41819560-41819560
9 SP7 NM_152860.2(SP7): c.1098C> T (p.Ser366=) single nucleotide variant Benign rs7139272 12:53722128-53722128 12:53328344-53328344
10 SP7 NM_152860.2(SP7): c.1128T> C (p.His376=) single nucleotide variant Benign rs7138938 12:53722098-53722098 12:53328314-53328314

Expression for Osteogenesis Imperfecta, Type Xii

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

Pathways for Osteogenesis Imperfecta, Type Xii

GO Terms for Osteogenesis Imperfecta, Type Xii

Sources for Osteogenesis Imperfecta, Type Xii

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
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36 IUPHAR
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38 LifeMap
40 LOVD
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44 MeSH
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54 NINDS
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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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