MCID: OST130
MIFTS: 23

Osteogenesis Imperfecta, Type Ix 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 51 12 67
Osteogenesis Imperfecta Type Ix 11 47 24 69
Osteogenesis Imperfecta Sillence Type Ii/iii Without Abnormality of Type I Collagen 47 69
Osteogenesis Imperfecta Type 9 11 47
Osteogenesis Imperfecta 9 69 26
 
Oi Type Ix 47 69
Oi9 11 69
Oi-Ix 69
Oi 9 47

Characteristics:

HPO:

63
osteogenesis imperfecta, type ix:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 259440
Disease Ontology11 DOID:0110349
ICD1029 Q78.0
MedGen36 C1850169
MeSH38 D010013

Summaries for Osteogenesis Imperfecta, Type Ix

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UniProtKB/Swiss-Prot:69 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, is also known as osteogenesis imperfecta type ix, 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.

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

OMIM:51 Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased... (259440) more...

Symptoms 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:

 63 (show all 11)
id Description HPO Frequency HPO Source Accession
1 blue sclerae63 HP:0000592
2 dentinogenesis imperfecta63 HP:0000703
3 pectus excavatum63 HP:0000767
4 pectus carinatum63 HP:0000768
5 wormian bones63 HP:0002645
6 scoliosis63 HP:0002650
7 recurrent fractures63 HP:0002757
8 kyphosis63 HP:0002808
9 bowing of limbs due to multiple fractures63 HP:0003023
10 multiple prenatal fractures63 HP:0005855
11 disproportionate short-limb short stature63 HP:0008873

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 926
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:

35
Bone

Animal Models for Osteogenesis Imperfecta, Type Ix or affiliated genes

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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:

69
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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Sources for Osteogenesis Imperfecta, Type Ix

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet