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

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Aliases & Descriptions for Osteogenesis Imperfecta, Type Xii:

Name: Osteogenesis Imperfecta, Type Xii 52 12 68
Osteogenesis Imperfecta Type Xii 11 24 70
Oi12 11 24 70
Osteogenesis Imperfecta Type 12 11 13
 
Osteogenesis Imperfecta 12 70 27
Osteogenesis Imperfecta Sillence Type Iii 70
Oi Type Xii 70
Oi-Xii 70

Characteristics:

HPO:

64
osteogenesis imperfecta, type xii:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 613849
Disease Ontology11 DOID:0110348
ICD1030 Q78.0
MedGen37 C3151218
MeSH39 D010013

Summaries for Osteogenesis Imperfecta, Type Xii

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UniProtKB/Swiss-Prot:70 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 narrow mouth, high palate and malar flattening. An important gene associated with Osteogenesis Imperfecta, Type Xii is SP7 (Sp7 Transcription Factor). Affiliated tissues include bone, and related mouse phenotype Decreased shRNA abundance (Z-score < -2).

OMIM:52 Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low... (613849) more...

Disease Ontology:11 An osteogenesis imperfecta that has material basis in mutation in the SP7 gene on chromosome 12q13.

Related Diseases for Osteogenesis Imperfecta, Type Xii

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Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xii

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Symptoms by clinical synopsis from OMIM:

613849

Clinical features from OMIM:

613849

Human phenotypes related to Osteogenesis Imperfecta, Type Xii:

 64 (show all 17)
id Description HPO Frequency HPO Source Accession
1 narrow mouth64 HP:0000160
2 high palate64 HP:0000218
3 malar flattening64 HP:0000272
4 facial asymmetry64 HP:0000324
5 prominent supraorbital ridges64 HP:0000336
6 micrognathia64 HP:0000347
7 delayed eruption of teeth64 HP:0000684
8 pectus carinatum64 HP:0000768
9 motor delay64 HP:0001270
10 wormian bones64 HP:0002645
11 scoliosis64 HP:0002650
12 short stature64 HP:0004322
13 depressed nasal bridge64 HP:0005280
14 prominent forehead64 HP:0011220
15 midface retrusion64 HP:0011800
16 abnormality of cardiovascular system morphology64 HP:0030680
17 generalized osteoporosis64 HP:0040160

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-849.1AP5B1, EXOSC9

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xii

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Osteogenesis Imperfecta, Type Xii

Genetic Tests for Osteogenesis Imperfecta, Type Xii

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Genetic tests related to Osteogenesis Imperfecta, Type Xii:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 1227
2 Osteogenesis Imperfecta Type Xii24 SP7

Anatomical Context for Osteogenesis Imperfecta, Type Xii

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

36
Bone

Publications for Osteogenesis Imperfecta, Type Xii

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Variations for Osteogenesis Imperfecta, Type Xii

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Clinvar genetic disease variations for Osteogenesis Imperfecta, Type Xii:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SP7SP7, 1-BP DEL, 1052AdeletionPathogenic
2FKBP10FKBP10, 35-BP DEL, NT122deletionPathogenic
3FKBP10FKBP10, 33-BP DEL, NT321deletionPathogenic
4FKBP10FKBP10, 1-BP DUP, 831CduplicationPathogenic
5FKBP10NM_ 021939.3(FKBP10): c.1207C> T (p.Arg403Ter)SNVPathogenicrs372896892GRCh37Chr 17, 39976664: 39976664
6FKBP10NM_ 021939.3(FKBP10): c.1271_ 1272delCCinsA (p.Ala424Aspfs)indelPathogenicrs397509383GRCh37Chr 17, 39977213: 39977214
7FKBP10NM_ 021939.3(FKBP10): c.948dupT (p.Ile317Tyrfs)duplicationPathogenicrs387907325GRCh37Chr 17, 39975812: 39975812

Expression for genes affiliated with Osteogenesis Imperfecta, Type Xii

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Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type Xii.

Pathways for genes affiliated with Osteogenesis Imperfecta, Type Xii

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GO Terms for genes affiliated with Osteogenesis Imperfecta, Type Xii

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Sources for Osteogenesis Imperfecta, Type Xii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet