MCID: OST128
MIFTS: 28

Osteogenesis Imperfecta, Type Xii

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Xii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xii:

Name: Osteogenesis Imperfecta, Type Xii 53 13 69
Osteogenesis Imperfecta Type 12 12 28 14
Oi12 53 12 71
Osteogenesis Imperfecta Type Xii 12 71
Osteogenesis Imperfecta Sillence Type Iii 71
Osteogenesis Imperfecta 12 71
Oi, Type Xii 53
Oi Type Xii 71
Oi-Xii 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
osteogenesis imperfecta, type xii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xii

UniProtKB/Swiss-Prot : 71 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, and has symptoms including malar flattening, high palate and scoliosis. An important gene associated with Osteogenesis Imperfecta, Type Xii is SP7 (Sp7 Transcription Factor). Affiliated tissues include bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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

OMIM : 53 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, no dentinogenesis imperfecta, normal hearing, and white sclerae (summary by Lapunzina et al., 2010). (613849)

Related Diseases for Osteogenesis Imperfecta, Type Xii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xii

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
prominent supraorbital ridges
normal sclerae

Chest RibsSternum Clavicles And Scapulae:
pectus carinatum

Head And Neck Mouth:
micrognathia
high-arched palate
microstomia

Skeletal:
generalized osteoporosis
repeated bone fractures
mild bone deformities

Neurologic Central Nervous System:
delayed motor milestones

Head And Neck Head:
high, prominent forehead

Skeletal Spine:
scoliosis, mild

Skeletal Hands:
hyperextensibility of the interphalangeal joints

Head And Neck Nose:
depressed nasal bridge

Growth Height:
short stature

Skeletal Skull:
wormian bones

Head And Neck Face:
midface hypoplasia
facial asymmetry, mild

Head And Neck Ears:
normal hearing

Head And Neck Teeth:
delayed teeth eruption
no dentinogenesis imperfecta

Skeletal Limbs:
bowing of lower limbs
bowing of upper limbs


Clinical features from OMIM:

613849

Human phenotypes related to Osteogenesis Imperfecta, Type Xii:

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

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

25
# 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 28 SP7

Anatomical Context for Osteogenesis Imperfecta, Type Xii

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

38
Bone

Publications for Osteogenesis Imperfecta, Type Xii

Variations for Osteogenesis Imperfecta, Type Xii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SP7 SP7, 1-BP DEL, 1052A deletion Pathogenic
2 FKBP10 FKBP10, 35-BP DEL, NT122 deletion Pathogenic
3 FKBP10 NM_021939.3(FKBP10): c.1207C> T (p.Arg403Ter) single nucleotide variant Pathogenic rs372896892 GRCh37 Chromosome 17, 39976664: 39976664
4 FKBP10 NM_021939.3(FKBP10): c.1271_1272delCCinsA (p.Ala424Aspfs) indel Pathogenic rs397509383 GRCh37 Chromosome 17, 39977213: 39977214
5 FKBP10 NM_021939.3(FKBP10): c.948dupT (p.Ile317Tyrfs) duplication Pathogenic rs387907325 GRCh37 Chromosome 17, 39975812: 39975812
6 FKBP10 FKBP10, 33-BP DEL, NT321 deletion Pathogenic
7 FKBP10 FKBP10, 1-BP DUP, 831C duplication Pathogenic

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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