OI 9
MCID: OST043
MIFTS: 23

Osteogenesis Imperfecta Type 9 (OI 9) malady

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

Summaries for Osteogenesis Imperfecta Type 9

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48OMIM, 34MalaCards
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MalaCards: Osteogenesis Imperfecta Type 9, is also known as osteogenesis imperfecta sillence type ii/iii without abnormality of type i collagen An important gene associated with Osteogenesis Imperfecta Type 9 is PPIB (peptidylprolyl isomerase B (cyclophilin B)). The drugs calcitonin and salmon calcitonin have been mentioned in the context of this disorder. Affiliated tissues include bone.

Description from OMIM:48 259440

Aliases & Classifications for Osteogenesis Imperfecta Type 9

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Sources:
63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM
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Classifications:



Aliases & Descriptions:

osteogenesis imperfecta type 9 44 21 23
osteogenesis imperfecta sillence type ii/iii without abnormality of type i collagen 44
osteogenesis imperfecta, type ix 48
osteogenesis imperfecta 63
oi type ix 44
oi 9 44


Symptoms for Osteogenesis Imperfecta Type 9

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48OMIM
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Symptoms by clinical synopsis from OMIM:

259440

Clinical features from OMIM:

259440

Drugs & Therapeutics for Osteogenesis Imperfecta Type 9

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Osteogenesis Imperfecta Type 9

Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta Type 9

Search NIH Clinical Center for Osteogenesis Imperfecta Type 9

Search CenterWatch for Osteogenesis Imperfecta Type 9

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Osteogenesis Imperfecta Type 9

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21GeneTests, 23GTR
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Genetic tests related to Osteogenesis Imperfecta Type 9:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type Ix21
2 Osteogenesis Imperfecta Type 923

Anatomical Context for Osteogenesis Imperfecta Type 9

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34MalaCards
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MalaCards organs/tissues related to Osteogenesis Imperfecta Type 9:

34
Bone

Animal Models for Osteogenesis Imperfecta Type 9 or affiliated genes

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Publications for Osteogenesis Imperfecta Type 9

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Variations for Osteogenesis Imperfecta Type 9

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta Type 9:

65
id Symbol AA change Variation ID SNP ID
1PPIBp.Met9ArgVAR_063436

Clinvar genetic disease variations for Osteogenesis Imperfecta Type 9:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_000942.4(PPIB): c.451C> T (p.Gln151Ter)single nucleotide variantPathogenicrs121434559GRCh37Chr 15, 64449001: 64449001
2PPIBNM_000942.4(PPIB): c.26T> G (p.Met9Arg)single nucleotide variantPathogenicrs137853864GRCh37Chr 15, 64455160: 64455160
3COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
4NM_000942.4(PPIB): c.563_566delACAG (p.Asp188Alafs)deletionPathogenicrs398122834GRCh37Chr 15, 64448307: 64448310

Expression for genes affiliated with Osteogenesis Imperfecta Type 9

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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 9

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Pathways for genes affiliated with Osteogenesis Imperfecta Type 9

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Compounds for genes affiliated with Osteogenesis Imperfecta Type 9

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GO Terms for genes affiliated with Osteogenesis Imperfecta Type 9

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Products for genes affiliated with Osteogenesis Imperfecta Type 9

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Osteogenesis Imperfecta Type 9

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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