MCID: OST128
MIFTS: 29

Osteogenesis Imperfecta, Type Xii 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 50 12 66
Osteogenesis Imperfecta Type Xii 23 68
Osteogenesis Imperfecta 12 68 25
Oi12 23 68
 
Osteogenesis Imperfecta Sillence Type Iii 68
Oi Type Xii 68
Oi-Xii 68

Characteristics:

HPO:

62
osteogenesis imperfecta, type xii:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 613849
MedGen35 C3151218
MeSH37 D010013

Summaries for Osteogenesis Imperfecta, Type Xii

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UniProtKB/Swiss-Prot:68 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 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 and inflammatory bowel disease 22, and has symptoms including abnormality of cardiovascular system morphology, narrow mouth and high palate. An important gene associated with Osteogenesis Imperfecta, Type Xii is SP7 (Sp7 Transcription Factor). Affiliated tissues include bone, and related mouse phenotype skeleton.

OMIM:50 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

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Diseases in the Osteogenesis Imperfecta family:

Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Xvii Osteogenesis Imperfecta, Type Iv
Osteogenesis Imperfecta, Type Iii Osteogenesis Imperfecta, Type Ii
Osteogenesis Imperfecta, Type Xiii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type V Osteogenesis Imperfecta, Type Xvi
Osteogenesis Imperfecta, Type X Osteogenesis Imperfecta, Type Xv
osteogenesis imperfecta, type xii Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Vi Osteogenesis Imperfecta, Type Xi
Osteogenesis Imperfecta, Type I Bmp1-Related Osteogenesis Imperfecta
Crtap-Related Osteogenesis Imperfecta Fkbp10-Related Osteogenesis Imperfecta
Ifitm5-Related Osteogenesis Imperfecta Lepre1-Related Osteogenesis Imperfecta
Ppib-Related Osteogenesis Imperfecta Serpinf1-Related Osteogenesis Imperfecta
Serpinh1-Related Osteogenesis Imperfecta Sp7-Related Osteogenesis Imperfecta
Tmem38b-Related Osteogenesis Imperfecta Sparc-Related Osteogenesis Imperfecta
Wnt1-Related Osteogenesis Imperfecta

Diseases related to Osteogenesis Imperfecta, Type Xii via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cerebellar ataxia, mental retardation, and dysequilibrium syndrome 29.6FKBP10, SERPINF1
2inflammatory bowel disease 229.5FKBP10, SP7
3fetishism9.5FKBP10, SERPINF1
4spermatogenic failure 119.4FKBP10, SP7
5osteogenesis imperfecta, type ii9.4FKBP10, SERPINF1
6carnitine palmitoyltransferase ii deficiency9.2FKBP10, SERPINF1
7aortic aneurysm, familial abdominal, 49.1FKBP10, SERPINF1, SP7
8osteogenesis imperfecta, type iii9.1FKBP10, SERPINF1, SP7

Graphical network of diseases related to Osteogenesis Imperfecta, Type Xii:



Diseases related to osteogenesis imperfecta, type xii

Symptoms for Osteogenesis Imperfecta, Type Xii

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Symptoms by clinical synopsis from OMIM:

613849

Clinical features from OMIM:

613849

HPO human phenotypes related to Osteogenesis Imperfecta, Type Xii:

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

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 1225
2 Osteogenesis Imperfecta Type Xii23 SP7

Anatomical Context for Osteogenesis Imperfecta, Type Xii

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

34
Bone

Animal Models for Osteogenesis Imperfecta, Type Xii or affiliated genes

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MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Xii:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5FKBP10, SERPINF1, SP7

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
3SERPINF1NM_002615.6(SERPINF1): c.696C> G (p.Tyr232Ter)single nucleotide variantPathogenicrs193302872GRCh37Chr 17, 1678404: 1678404
4SERPINF1NM_002615.6(SERPINF1): c.1132C> T (p.Gln378Ter)single nucleotide variantPathogenicrs193302873GRCh37Chr 17, 1680615: 1680615
5FKBP10FKBP10, 33-BP DEL, NT321deletionPathogenic
6FKBP10FKBP10, 1-BP DUP, 831CduplicationPathogenic
7FKBP10NM_021939.3(FKBP10): c.1207C> T (p.Arg403Ter)single nucleotide variantPathogenicrs372896892GRCh37Chr 17, 39976664: 39976664
8FKBP10NM_021939.3(FKBP10): c.1271_1272delCCinsA (p.Ala424Aspfs)indelPathogenicrs397509383GRCh37Chr 17, 39977213: 39977214
9FKBP10NM_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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet