MCID: OST067
MIFTS: 23

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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MalaCards based summary: Osteogenesis Imperfecta Type Xii, also known as osteogenesis imperfecta, type xii, is related to osteogenesis imperfecta, and has symptoms including 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.

Description from OMIM:46 613849

Aliases & Classifications for Osteogenesis Imperfecta Type Xii

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Osteogenesis Imperfecta Type Xii, Aliases & Descriptions:

Name: Osteogenesis Imperfecta Type Xii 20 22
 
Osteogenesis Imperfecta, Type Xii 46


Classifications:



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

HPO human phenotypes related to Osteogenesis Imperfecta Type Xii:

(show all 18)
id Description Frequency HPO Source Accession
1 malformation of the heart and great vessels rare (5%) HP:0002564
2 autosomal recessive inheritance HP:0000007
3 narrow mouth HP:0000160
4 high palate HP:0000218
5 malar flattening HP:0000272
6 facial asymmetry HP:0000324
7 prominent supraorbital ridges HP:0000336
8 micrognathia HP:0000347
9 delayed eruption of teeth HP:0000684
10 pectus carinatum HP:0000768
11 osteoporosis HP:0000939
12 motor delay HP:0001270
13 wormian bones HP:0002645
14 scoliosis HP:0002650
15 short stature HP:0004322
16 depressed nasal bridge HP:0005280
17 prominent forehead HP:0011220
18 midface retrusion HP:0011800

Drugs & Therapeutics for Osteogenesis Imperfecta Type Xii

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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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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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MalaCards organs/tissues related to Osteogenesis Imperfecta Type Xii:

32
Bone

Animal Models for Osteogenesis Imperfecta Type Xii or affiliated genes

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MGI Mouse Phenotypes related to Osteogenesis Imperfecta Type Xii:

36
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:

6
id Gene Name Type Significance SNP ID Assembly Location
1SP7SP7, 1-BP DEL, 1052AdeletionPathogenic
2FKBP10FKBP10, 35-BP DEL, NT122deletionPathogenic
3FKBP10FKBP10, 33-BP DEL, NT321deletionPathogenic
4FKBP10FKBP10, 1-BP DUP, 831CduplicationPathogenic
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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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

Sources for Osteogenesis Imperfecta Type Xii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet