OI9
MCID: OST130
MIFTS: 31

Osteogenesis Imperfecta, Type Ix (OI9) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Osteogenesis Imperfecta, Type Ix

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Aliases & Descriptions for Osteogenesis Imperfecta, Type Ix:

Name: Osteogenesis Imperfecta, Type Ix 52 12
Osteogenesis Imperfecta Type Ix 11 48 24 70
Osteogenesis Imperfecta Type 9 11 48 13
Osteogenesis Imperfecta Sillence Type Ii/iii Without Abnormality of Type I Collagen 48 70
Osteogenesis Imperfecta 9 70 27
 
Oi Type Ix 48 70
Oi9 11 70
Oi-Ix 70
Oi 9 48

Characteristics:

HPO:

64
osteogenesis imperfecta, type ix:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 259440
Disease Ontology11 DOID:0110349
ICD1030 Q78.0
MedGen37 C1850169
MeSH39 D010013

Summaries for Osteogenesis Imperfecta, Type Ix

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UniProtKB/Swiss-Prot:70 Osteogenesis imperfecta 9: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI9 is a severe autosomal recessive form of the disorder.

MalaCards based summary: Osteogenesis Imperfecta, Type Ix, also known as osteogenesis imperfecta type ix, is related to xanthinuria and autism susceptibility 16, and has symptoms including blue sclerae, dentinogenesis imperfecta and pectus excavatum. An important gene associated with Osteogenesis Imperfecta, Type Ix is PPIB (Peptidylprolyl Isomerase B). Affiliated tissues include bone, and related mouse phenotype Increased HPV18 LCR reporter activity.

Disease Ontology:11 An osteogenesis imperfecta that has material basis in mutation in the PPIB gene on chromosome 15q22.

OMIM:52 Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased... (259440) more...

Related Diseases for Osteogenesis Imperfecta, Type Ix

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Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Ix

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Symptoms by clinical synopsis from OMIM:

259440

Clinical features from OMIM:

259440

Human phenotypes related to Osteogenesis Imperfecta, Type Ix:

 64 (show all 11)
id Description HPO Frequency HPO Source Accession
1 blue sclerae64 HP:0000592
2 dentinogenesis imperfecta64 HP:0000703
3 pectus excavatum64 HP:0000767
4 pectus carinatum64 HP:0000768
5 wormian bones64 HP:0002645
6 scoliosis64 HP:0002650
7 recurrent fractures64 HP:0002757
8 kyphosis64 HP:0002808
9 bowing of limbs due to multiple fractures64 HP:0003023
10 multiple prenatal fractures64 HP:0005855
11 disproportionate short-limb short stature64 HP:0008873

GenomeRNAi Phenotypes related to Osteogenesis Imperfecta, Type Ix according to GeneCards Suite gene sharing:

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idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00197-A-18.2FKBP2, PPIB, FKBP2, PPIB

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Ix

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Osteogenesis Imperfecta, Type Ix

Genetic Tests for Osteogenesis Imperfecta, Type Ix

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Genetic tests related to Osteogenesis Imperfecta, Type Ix:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 927
2 Osteogenesis Imperfecta Type Ix24

Anatomical Context for Osteogenesis Imperfecta, Type Ix

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MalaCards organs/tissues related to Osteogenesis Imperfecta, Type Ix:

36
Bone

Publications for Osteogenesis Imperfecta, Type Ix

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Variations for Osteogenesis Imperfecta, Type Ix

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UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type Ix:

70
id Symbol AA change Variation ID SNP ID
1PPIBp.Met9ArgVAR_063436rs137853864

Clinvar genetic disease variations for Osteogenesis Imperfecta, Type Ix:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PPIBNM_ 000942.4(PPIB): c.556_ 559delAAGA (p.Lys186Glnfs)deletionPathogenicrs137853869GRCh37Chr 15, 64448314: 64448317
2PPIBNM_ 000942.4(PPIB): c.451C> T (p.Gln151Ter)SNVPathogenicrs121434559GRCh37Chr 15, 64449001: 64449001
3PPIBNM_ 000942.4(PPIB): c.26T> G (p.Met9Arg)SNVPathogenicrs137853864GRCh37Chr 15, 64455160: 64455160
4PPIBNM_ 000942.4(PPIB): c.120delC (p.Val42Serfs)deletionPathogenicrs137853865GRCh37Chr 15, 64455066: 64455066
5PPIBNM_ 000942.4(PPIB): c.313G> A (p.Gly105Arg)SNVPathogenicrs137853866GRCh37Chr 15, 64452333: 64452333
6PPIBNM_ 000942.4(PPIB): c.563_ 566delACAG (p.Asp188Alafs)deletionPathogenicrs398122834GRCh37Chr 15, 64448307: 64448310

Expression for genes affiliated with Osteogenesis Imperfecta, Type Ix

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Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type Ix.

Pathways for genes affiliated with Osteogenesis Imperfecta, Type Ix

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GO Terms for genes affiliated with Osteogenesis Imperfecta, Type Ix

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Cellular components related to Osteogenesis Imperfecta, Type Ix according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00057839.1FKBP2, FKBP7, PPIB
2endoplasmic reticulum lumenGO:00057889.0FKBP7, PPIB

Biological processes related to Osteogenesis Imperfecta, Type Ix according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chaperone-mediated protein foldingGO:00610778.9FKBP2, FKBP7, PPIB
2protein peptidyl-prolyl isomerizationGO:00004138.5FKBP2, FKBP7, PPIB

Molecular functions related to Osteogenesis Imperfecta, Type Ix according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1FK506 bindingGO:00055289.7FKBP2, FKBP7
2isomerase activityGO:00168538.9FKBP2, FKBP7, PPIB
3peptidyl-prolyl cis-trans isomerase activityGO:00037558.5FKBP2, FKBP7, PPIB

Sources for Osteogenesis Imperfecta, Type Ix

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet