MCID: OST067
MIFTS: 20

Osteogenesis Imperfecta Type Xii malady

Genetic diseases, Bone diseases, Rare diseases, Fetal diseases, Oral diseases categories
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Summaries for Osteogenesis Imperfecta Type Xii

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47OMIM, 33MalaCards
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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:47 613849

Aliases & Classifications for Osteogenesis Imperfecta Type Xii

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Sources:
20GeneTests, 22GTR, 47OMIM, 62UMLS
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Classifications:



Aliases & Descriptions:

osteogenesis imperfecta type xii 20 22
osteogenesis imperfecta, type xii 47 62


Symptoms for Osteogenesis Imperfecta Type Xii

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47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta Type Xii

Search NIH Clinical Center for Osteogenesis Imperfecta Type Xii

Genetic Tests for Osteogenesis Imperfecta Type Xii

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Osteogenesis Imperfecta Type Xii:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type Xii20 SP7
2 Osteogenesis Imperfecta Type 1122

Anatomical Context for Osteogenesis Imperfecta Type Xii

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33MalaCards
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MalaCards organs/tissues related to Osteogenesis Imperfecta Type Xii:

33
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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet