OI12
MCID: OST128
MIFTS: 28

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 58 13 41 74
Osteogenesis Imperfecta Type 12 12 30 6 15
Oi12 58 12 76
Osteogenesis Imperfecta Type Xii 12 76
Osteogenesis Imperfecta Sillence Type Iii 76
Osteogenesis Imperfecta 12 76
Oi, Type Xii 58
Oi Type Xii 76
Oi-Xii 76

Characteristics:

OMIM:

58
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:

33
osteogenesis imperfecta, type xii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xii

UniProtKB/Swiss-Prot : 76 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 : 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 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:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
2 malar flattening 33 HP:0000272
3 high palate 33 HP:0000218
4 scoliosis 33 HP:0002650
5 prominent supraorbital ridges 33 HP:0000336
6 depressed nasal bridge 33 HP:0005280
7 pectus carinatum 33 HP:0000768
8 short stature 33 HP:0004322
9 prominent forehead 33 HP:0011220
10 micrognathia 33 HP:0000347
11 delayed eruption of teeth 33 HP:0000684
12 wormian bones 33 HP:0002645
13 motor delay 33 HP:0001270
14 narrow mouth 33 HP:0000160
15 midface retrusion 33 HP:0011800
16 facial asymmetry 33 HP:0000324
17 generalized osteoporosis 33 HP:0040160

Symptoms via clinical synopsis from OMIM:

58
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

GenomeRNAi Phenotypes related to Osteogenesis Imperfecta, Type Xii according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.17 AP5B1 EXOSC9
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.17 AP5B1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.17 EXOSC9
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.17 EXOSC9
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.17 EXOSC9
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.17 EXOSC9

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 30 SP7

Anatomical Context for Osteogenesis Imperfecta, Type Xii

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

42
Bone, Heart

Publications for Osteogenesis Imperfecta, Type Xii

Variations for Osteogenesis Imperfecta, Type Xii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xii:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKBP10 FKBP10, 33-BP DEL, NT321 deletion Pathogenic
2 SP7 SP7, 1-BP DEL, 1052A deletion Pathogenic
3 FKBP10 FKBP10, 35-BP DEL, NT122 deletion Pathogenic
4 FKBP10 NM_021939.3(FKBP10): c.948dupT (p.Ile317Tyrfs) duplication Pathogenic rs387907325 GRCh38 Chromosome 17, 41819560: 41819560
5 FKBP10 NM_021939.3(FKBP10): c.1207C> T (p.Arg403Ter) single nucleotide variant Pathogenic rs372896892 GRCh37 Chromosome 17, 39976664: 39976664
6 FKBP10 NM_021939.3(FKBP10): c.1207C> T (p.Arg403Ter) single nucleotide variant Pathogenic rs372896892 GRCh38 Chromosome 17, 41820412: 41820412
7 FKBP10 NM_021939.3(FKBP10): c.1271_1272delCCinsA (p.Ala424Aspfs) indel Pathogenic rs397509383 GRCh37 Chromosome 17, 39977213: 39977214
8 FKBP10 NM_021939.3(FKBP10): c.1271_1272delCCinsA (p.Ala424Aspfs) indel Pathogenic rs397509383 GRCh38 Chromosome 17, 41820961: 41820962
9 FKBP10 NM_021939.3(FKBP10): c.948dupT (p.Ile317Tyrfs) duplication Pathogenic rs387907325 GRCh37 Chromosome 17, 39975812: 39975812
10 SP7 NM_001173467.2(SP7): c.1098C> T (p.Ser366=) single nucleotide variant Benign rs7139272 GRCh37 Chromosome 12, 53722128: 53722128
11 SP7 NM_001173467.2(SP7): c.1098C> T (p.Ser366=) single nucleotide variant Benign rs7139272 GRCh38 Chromosome 12, 53328344: 53328344
12 SP7 NM_001173467.2(SP7): c.1128T> C (p.His376=) single nucleotide variant Benign rs7138938 GRCh37 Chromosome 12, 53722098: 53722098
13 SP7 NM_001173467.2(SP7): c.1128T> C (p.His376=) single nucleotide variant Benign rs7138938 GRCh38 Chromosome 12, 53328314: 53328314
14 FKBP10 NM_021939.3(FKBP10): c.831dup (p.Gly278Argfs) duplication Pathogenic rs137853883 GRCh38 Chromosome 17, 41819313: 41819313
15 FKBP10 NM_021939.3(FKBP10): c.831dup (p.Gly278Argfs) duplication Pathogenic rs137853883 GRCh37 Chromosome 17, 39975565: 39975565
16 SP7 NM_152860.1(SP7): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 53722280: 53722280
17 SP7 NM_152860.1(SP7): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 53328496: 53328496

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
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
Content
Loading form....