MCID: OST128
MIFTS: 28

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 51 12 67
Osteogenesis Imperfecta Type Xii 11 24 69
Oi12 11 24 69
Osteogenesis Imperfecta 12 69 26
 
Osteogenesis Imperfecta Sillence Type Iii 69
Osteogenesis Imperfecta Type 12 11
Oi Type Xii 69
Oi-Xii 69

Characteristics:

HPO:

63
osteogenesis imperfecta, type xii:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 613849
Disease Ontology11 DOID:0110348
ICD1029 Q78.0
MedGen36 C3151218
MeSH38 D010013

Summaries for Osteogenesis Imperfecta, Type Xii

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UniProtKB/Swiss-Prot:69 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 inflammatory bowel disease 22 and osteogenesis imperfecta, type iii, 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 limbs/digits/tail.

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

OMIM:51 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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Symptoms 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:

 63 (show all 17)
id Description HPO Frequency HPO Source Accession
1 abnormality of cardiovascular system morphology63 rare (5%) HP:0030680
2 narrow mouth63 HP:0000160
3 high palate63 HP:0000218
4 malar flattening63 HP:0000272
5 facial asymmetry63 HP:0000324
6 prominent supraorbital ridges63 HP:0000336
7 micrognathia63 HP:0000347
8 delayed eruption of teeth63 HP:0000684
9 pectus carinatum63 HP:0000768
10 motor delay63 HP:0001270
11 wormian bones63 HP:0002645
12 scoliosis63 HP:0002650
13 short stature63 HP:0004322
14 depressed nasal bridge63 HP:0005280
15 prominent forehead63 HP:0011220
16 midface retrusion63 HP:0011800
17 generalized osteoporosis63 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 1226
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:

35
Bone

Animal Models for Osteogenesis Imperfecta, Type Xii or affiliated genes

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MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Xii:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1FKBP10, 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, 1052AdeletionPathogenicChr na, -1: -1
2FKBP10FKBP10, 35-BP DEL, NT122deletionPathogenicChr na, -1: -1
3FKBP10FKBP10, 33-BP DEL, NT321deletionPathogenicChr na, -1: -1
4FKBP10FKBP10, 1-BP DUP, 831CduplicationPathogenicChr na, -1: -1
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet