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 56 13 39 71
Osteogenesis Imperfecta Type 12 12 29 6 15
Oi12 56 12 73
Osteogenesis Imperfecta Type Xii 12 73
Osteogenesis Imperfecta Sillence Type Iii 73
Osteogenesis Imperfecta 12 73
Oi, Type Xii 56
Oi Type Xii 73
Oi-Xii 73



autosomal recessive

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


osteogenesis imperfecta, type xii:
Inheritance autosomal recessive inheritance


External Ids:

Disease Ontology 12 DOID:0110348
OMIM 56 613849
OMIM Phenotypic Series 56 PS166200
MeSH 43 D010013
ICD10 32 Q78.0
UMLS 71 C3151433

Summaries for Osteogenesis Imperfecta, Type Xii

UniProtKB/Swiss-Prot : 73 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 xi and dentinogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta, Type Xii is SP7 (Sp7 Transcription Factor). Affiliated tissues include bone, heart and eye, 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 : 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 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

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 Xii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type xi 10.2 FKBP10 DNAH9
2 dentinogenesis imperfecta 9.9 SP7 SERPINF1 FKBP10
3 bruck syndrome 9.9 SERPINF1 FKBP10
4 osteogenesis imperfecta, type iv 9.9 SP7 SERPINF1 FKBP10
5 bone development disease 9.9 SP7 SERPINF1 FKBP10
6 odontochondrodysplasia 9.8 SP7 SERPINF1 FKBP10
7 brittle bone disorder 9.8 SP7 SERPINF1 FKBP10
8 osteogenesis imperfecta, type xv 9.8 RPL21 DNAH9
9 osteogenesis imperfecta, type xvi 9.8 RPL21 DNAH9
10 osteogenesis imperfecta, type iii 9.8 SERPINF1 FKBP10
11 osteogenesis imperfecta, type xvii 9.4 RPL21 RIBC2 DNAH9
12 osteogenesis imperfecta, type xiii 8.6 RPL21 RIBC2 PPL NAGPA DNAH9

Graphical network of the top 20 diseases related to Osteogenesis Imperfecta, Type Xii:

Diseases related to Osteogenesis Imperfecta, Type Xii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xii

Human phenotypes related to Osteogenesis Imperfecta, Type Xii:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
2 malar flattening 31 HP:0000272
3 scoliosis 31 HP:0002650
4 high palate 31 HP:0000218
5 depressed nasal bridge 31 HP:0005280
6 prominent supraorbital ridges 31 HP:0000336
7 pectus carinatum 31 HP:0000768
8 short stature 31 HP:0004322
9 micrognathia 31 HP:0000347
10 midface retrusion 31 HP:0011800
11 prominent forehead 31 HP:0011220
12 delayed eruption of teeth 31 HP:0000684
13 wormian bones 31 HP:0002645
14 narrow mouth 31 HP:0000160
15 motor delay 31 HP:0001270
16 facial asymmetry 31 HP:0000324
17 brachyturricephaly 31 HP:0000244
18 progressive hearing impairment 31 HP:0001730
19 generalized osteoporosis 31 HP:0040160

Symptoms via clinical synopsis from OMIM:

Head And Neck Nose:
depressed nasal bridge

Head And Neck Eyes:
prominent supraorbital ridges
normal sclerae

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 Face:
prominent supraorbital ridges
midface hypoplasia
facial asymmetry, mild

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Head And Neck Mouth:
high-arched palate

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:


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:

Bone, Heart, Eye

Publications for Osteogenesis Imperfecta, Type Xii

Articles related to Osteogenesis Imperfecta, Type Xii:

(show all 27)
# Title Authors PMID Year
Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment. 56 6
29382611 2018
Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. 56 6
20579626 2010
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. 6
22949511 2013
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. 6
22718341 2012
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. 6
22689593 2012
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. 6
22107750 2011
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. 6
21567934 2011
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 6
20839288 2011
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. 6
20362275 2010
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 6
19358256 2009
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 6
18996919 2009
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. 6
18311573 2008
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
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 6
16879195 2006
COL1A1/2 Osteogenesis Imperfecta 6
20301472 2005
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 6
15241796 2004
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 6
15024745 2004
The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. 56
11792318 2002
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 6
11317364 2001
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 6
11113887 2000
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
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 6
7942841 1994
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 6
2037280 1991
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
Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. 6
1137656 1975
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. 61
26270622 2015
Rich stoichiometries of stable Ca-Bi system: structure prediction and superconductivity. 61
25790859 2015

Variations for Osteogenesis Imperfecta, Type Xii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xii:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FKBP10 FKBP10, 33-BP DEL, NT321deletion Pathogenic 3532
2 SP7 SP7, 1-BP DEL, 1052Adeletion Pathogenic 30597
3 FKBP10 FKBP10, 35-BP DEL, NT122deletion Pathogenic 30632
4 FKBP10 NM_021939.3(FKBP10):c.1207C>T (p.Arg403Ter)SNV Pathogenic 39842 rs372896892 17:39976664-39976664 17:41820412-41820412
5 FKBP10 NM_021939.3(FKBP10):c.1271_1272delinsA (p.Ala424fs)indel Pathogenic 41425 rs397509383 17:39977213-39977214 17:41820961-41820962
6 FKBP10 NM_021939.3(FKBP10):c.948dup (p.Ile317fs)duplication Pathogenic 41899 rs387907325 17:39975811-39975812 17:41819559-41819560
7 FKBP10 NM_021939.3(FKBP10):c.831dup (p.Gly278fs)duplication Pathogenic 438659 rs137853883 17:39975558-39975559 17:41819306-41819307
8 SP7 NM_001173467.3(SP7):c.946C>T (p.Arg316Cys)SNV Pathogenic 560212 rs1565789682 12:53722280-53722280 12:53328496-53328496
9 SP7 NM_001173467.3(SP7):c.1098C>T (p.Ser366=)SNV Benign 285778 rs7139272 12:53722128-53722128 12:53328344-53328344
10 SP7 NM_001173467.3(SP7):c.1128T>C (p.His376=)SNV Benign 285779 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

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II activating transcription factor binding GO:0001102 8.62 EXOSC9 BHLHE40

Sources for Osteogenesis Imperfecta, Type Xii

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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