MCID: OST128
MIFTS: 28

Osteogenesis Imperfecta, Type Xii

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Xii

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xii:

Name: Osteogenesis Imperfecta, Type Xii 57 13 40 73
Osteogenesis Imperfecta Type 12 12 29 6 15
Oi12 57 12 75
Osteogenesis Imperfecta Type Xii 12 75
Osteogenesis Imperfecta Sillence Type Iii 75
Osteogenesis Imperfecta 12 75
Oi, Type Xii 57
Oi Type Xii 75
Oi-Xii 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
osteogenesis imperfecta, type xii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xii

UniProtKB/Swiss-Prot : 75 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 osteogenesis imperfecta, type vi. An important gene associated with Osteogenesis Imperfecta, Type Xii is SP7 (Sp7 Transcription Factor). Affiliated tissues include bone, and related phenotypes are malar flattening and high palate

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, 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:

57
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

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:

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

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

26
# 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 29 SP7

Anatomical Context for Osteogenesis Imperfecta, Type Xii

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

41
Bone

Publications for Osteogenesis Imperfecta, Type Xii

Variations for Osteogenesis Imperfecta, Type Xii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xii:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKBP10 FKBP10, 33-BP DEL, NT321 deletion Pathogenic
2 FKBP10 FKBP10, 1-BP DUP, 831C duplication Pathogenic
3 SP7 SP7, 1-BP DEL, 1052A deletion Pathogenic
4 FKBP10 FKBP10, 35-BP DEL, NT122 deletion Pathogenic
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 FKBP10 NM_021939.3(FKBP10): c.948dupT (p.Ile317Tyrfs) duplication Pathogenic rs387907325 GRCh38 Chromosome 17, 41819560: 41819560
11 SP7 NM_001173467.2(SP7): c.1098C> T (p.Ser366=) single nucleotide variant Benign rs7139272 GRCh37 Chromosome 12, 53722128: 53722128
12 SP7 NM_001173467.2(SP7): c.1098C> T (p.Ser366=) single nucleotide variant Benign rs7139272 GRCh38 Chromosome 12, 53328344: 53328344
13 SP7 NM_001173467.2(SP7): c.1128T> C (p.His376=) single nucleotide variant Benign rs7138938 GRCh37 Chromosome 12, 53722098: 53722098
14 SP7 NM_001173467.2(SP7): c.1128T> C (p.His376=) single nucleotide variant Benign rs7138938 GRCh38 Chromosome 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 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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