OI12
MCID: OST128
MIFTS: 29

Osteogenesis Imperfecta, Type Xii (OI12) malady

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Xii

Aliases & Descriptions for Osteogenesis Imperfecta, Type Xii:

Name: Osteogenesis Imperfecta, Type Xii 54 13 69
Osteogenesis Imperfecta Type Xii 12 24 66
Oi12 12 24 66
Osteogenesis Imperfecta Type 12 12 14
Osteogenesis Imperfecta 12 66 29
Osteogenesis Imperfecta Sillence Type Iii 66
Oi Type Xii 66
Oi-Xii 66

Characteristics:

HPO:

32
osteogenesis imperfecta, type xii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613849
Disease Ontology 12 DOID:0110348
ICD10 33 Q78.0
MedGen 40 C3151218
MeSH 42 D010013

Summaries for Osteogenesis Imperfecta, Type Xii

UniProtKB/Swiss-Prot : 66 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 xii, is related to prostatocystitis and osteogenesis imperfecta, type ii, 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 phenotype is 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 : 54 Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low... (613849) more...

Related Diseases for Osteogenesis Imperfecta, Type Xii

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xii

Symptoms by clinical synopsis from OMIM:

613849

Clinical features from OMIM:

613849

Human phenotypes related to Osteogenesis Imperfecta, Type Xii:

32 (show all 17)
id 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 HP:0030680
17 generalized osteoporosis 32 HP:0040160

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.17 EXOSC9 AP5B1
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:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 12 29
2 Osteogenesis Imperfecta Type Xii 24 SP7

Anatomical Context for Osteogenesis Imperfecta, Type Xii

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

39
Bone

Publications for Osteogenesis Imperfecta, Type Xii

Variations for Osteogenesis Imperfecta, Type Xii

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xii:

6
id 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.1271_1272delCCinsA (p.Ala424Aspfs) indel Pathogenic rs397509383 GRCh37 Chromosome 17, 39977213: 39977214
7 FKBP10 NM_021939.3(FKBP10): c.948dupT (p.Ile317Tyrfs) duplication Pathogenic rs387907325 GRCh37 Chromosome 17, 39975812: 39975812

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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