OI 9
MCID: OST043
MIFTS: 23

Osteogenesis Imperfecta Type 9 (OI 9) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases categories
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Summaries for Osteogenesis Imperfecta Type 9

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47OMIM, 33MalaCards
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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:47 259440

Aliases & Classifications for Osteogenesis Imperfecta Type 9

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Sources:
62UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM
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Classifications:



Aliases & Descriptions:

osteogenesis imperfecta type 9 43 20 22
osteogenesis imperfecta sillence type ii/iii without abnormality of type i collagen 43
osteogenesis imperfecta, type ix 47
osteogenesis imperfecta 62
oi type ix 43
oi 9 43


Symptoms for Osteogenesis Imperfecta Type 9

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47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta Type 9

Search NIH Clinical Center for Osteogenesis Imperfecta Type 9

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Osteogenesis Imperfecta Type 9

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20GeneTests, 22GTR
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Genetic tests related to Osteogenesis Imperfecta Type 9:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type Ix20
2 Osteogenesis Imperfecta Type 922

Anatomical Context for Osteogenesis Imperfecta Type 9

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33MalaCards
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MalaCards organs/tissues related to Osteogenesis Imperfecta Type 9:

33
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:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta Type 9:

64
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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2BioGPS, 15Gene 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
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