MCID: OST067
MIFTS: 20

Osteogenesis Imperfecta Type Xii malady

Genetic diseases, Bone diseases, Rare diseases, Fetal diseases, Oral diseases categories

Summaries for Osteogenesis Imperfecta Type Xii

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48OMIM, 34MalaCards
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MalaCards: Osteogenesis Imperfecta Type Xii, is also known as osteogenesis imperfecta, type xii An important gene associated with Osteogenesis Imperfecta Type Xii is SP7 (Sp7 transcription factor). Affiliated tissues include bone.

Description from OMIM:48 613849

Aliases & Classifications for Osteogenesis Imperfecta Type Xii

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Sources:
21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:



Aliases & Descriptions:

osteogenesis imperfecta type xii 21 23
osteogenesis imperfecta, type xii 48 63


Symptoms for Osteogenesis Imperfecta Type Xii

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48OMIM
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Symptoms by clinical synopsis from OMIM:

613849

Clinical features from OMIM:

613849

Drugs & Therapeutics for Osteogenesis Imperfecta Type Xii

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Osteogenesis Imperfecta Type Xii

Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta Type Xii

Search NIH Clinical Center for Osteogenesis Imperfecta Type Xii

Search CenterWatch for Osteogenesis Imperfecta Type Xii

Genetic Tests for Osteogenesis Imperfecta Type Xii

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21GeneTests, 23GTR
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Genetic tests related to Osteogenesis Imperfecta Type Xii:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type Xii21 SP7
2 Osteogenesis Imperfecta Type 1123

Anatomical Context for Osteogenesis Imperfecta Type Xii

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34MalaCards
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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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Publications for Osteogenesis Imperfecta Type Xii

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Variations for Osteogenesis Imperfecta Type Xii

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Osteogenesis Imperfecta Type Xii:

1
id Gene Name Type Significance SNP ID Assembly Location
1SP7SP7, 1-BP DEL, 1052AdeletionPathogenic/card/osteogenesis_imperfecta_type_xii
2FKBP10FKBP10, 35-BP DEL, NT122deletionPathogenic/card/osteogenesis_imperfecta_type_xii
3FKBP10FKBP10, 33-BP DEL, NT321deletionPathogenic/card/osteogenesis_imperfecta_type_xii
4FKBP10FKBP10, 1-BP DUP, 831CduplicationPathogenic/card/osteogenesis_imperfecta_type_xii
5FKBP10NM_021939.3(FKBP10): c.1207C> T (p.Arg403Ter)single nucleotide variantPathogenicrs372896892GRCh37Chr 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: 39975813

Expression for genes affiliated with Osteogenesis Imperfecta Type Xii

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Osteogenesis Imperfecta Type Xii

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Pathways for genes affiliated with Osteogenesis Imperfecta Type Xii

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Compounds 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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Products for genes affiliated with Osteogenesis Imperfecta Type Xii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Osteogenesis Imperfecta Type Xii

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet