MCID: OST128
MIFTS: 30

Osteogenesis Imperfecta, Type Xii malady

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Xii

About this section

Aliases & Descriptions for Osteogenesis Imperfecta, Type Xii:

Name: Osteogenesis Imperfecta, Type Xii 49 11 65
Osteogenesis Imperfecta Type Xii 22 67
Osteogenesis Imperfecta 12 67 24
Oi12 22 67
 
Osteogenesis Imperfecta Sillence Type Iii 67
Oi Type Xii 67
Oi-Xii 67

Characteristics:

HPO:

61
osteogenesis imperfecta, type xii:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 613849
MedGen34 C3151218
MeSH36 D010013
UMLS65 C3151433

Summaries for Osteogenesis Imperfecta, Type Xii

About this section
UniProtKB/Swiss-Prot:67 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 bruck syndrome 1 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:49 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

About this section

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
1bruck syndrome 19.9FKBP10, SP7
2inflammatory bowel disease 229.8FKBP10, SP7
3pontocerebellar hypoplasia, type 2e9.7FKBP10, SERPINF1
4primary eye hypotony9.7FKBP10, SERPINF1
5osteogenesis imperfecta, type ii9.6FKBP10, SERPINF1
6branchiootic syndrome9.5FKBP10, SERPINF1
7aortic aneurysm, familial abdominal, 49.4FKBP10, SERPINF1, SP7
8osteogenesis imperfecta, type iii9.4FKBP10, 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

About this section

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

About this section

Interventional clinical trials:

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

Genetic Tests for Osteogenesis Imperfecta, Type Xii

About this section

Genetic tests related to Osteogenesis Imperfecta, Type Xii:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type Xii22 SP7

Anatomical Context for Osteogenesis Imperfecta, Type Xii

About this section

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

33
Bone

Animal Models for Osteogenesis Imperfecta, Type Xii or affiliated genes

About this section

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Xii:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5FKBP10, SERPINF1, SP7

Publications for Osteogenesis Imperfecta, Type Xii

About this section

Variations for Osteogenesis Imperfecta, Type Xii

About this section

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_002615.5(SERPINF1): c.696C> G (p.Tyr232Ter)single nucleotide variantPathogenicrs193302872GRCh37Chr 17, 1678404: 1678404
4SERPINF1NM_002615.5(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

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

Pathways for genes affiliated with Osteogenesis Imperfecta, Type Xii

About this section

GO Terms for genes affiliated with Osteogenesis Imperfecta, Type Xii

About this section

Sources for Osteogenesis Imperfecta, Type Xii

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet