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

About this section

Aliases & Descriptions for Osteogenesis Imperfecta, Type Ix:

Name: Osteogenesis Imperfecta, Type Ix 50 12
Osteogenesis Imperfecta Type Ix 46 23 68
Osteogenesis Imperfecta Sillence Type Ii/iii Without Abnormality of Type I Collagen 46 68
Osteogenesis Imperfecta 9 68 25
Oi Type Ix 46 68
 
Osteogenesis Imperfecta Type 9 46
Oi-Ix 68
Oi 9 46
Oi9 68

Characteristics:

HPO:

62
osteogenesis imperfecta, type ix:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 259440
MedGen35 C1850169
MeSH37 D010013

Summaries for Osteogenesis Imperfecta, Type Ix

About this section
UniProtKB/Swiss-Prot:68 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.

OMIM:50 Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased... (259440) more...

Symptoms for Osteogenesis Imperfecta, Type Ix

About this section

Symptoms by clinical synopsis from OMIM:

259440

Clinical features from OMIM:

259440

HPO human phenotypes related to Osteogenesis Imperfecta, Type Ix:

(show all 11)
id Description Frequency HPO Source Accession
1 blue sclerae HP:0000592
2 dentinogenesis imperfecta HP:0000703
3 pectus excavatum HP:0000767
4 pectus carinatum HP:0000768
5 wormian bones HP:0002645
6 scoliosis HP:0002650
7 recurrent fractures HP:0002757
8 kyphosis HP:0002808
9 bowing of limbs due to multiple fractures HP:0003023
10 multiple prenatal fractures HP:0005855
11 disproportionate short-limb short stature HP:0008873

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Ix

About this section

Interventional clinical trials:

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

Genetic Tests for Osteogenesis Imperfecta, Type Ix

About this section

Genetic tests related to Osteogenesis Imperfecta, Type Ix:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 925
2 Osteogenesis Imperfecta Type Ix23

Anatomical Context for Osteogenesis Imperfecta, Type Ix

About this section

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

34
Bone

Animal Models for Osteogenesis Imperfecta, Type Ix or affiliated genes

About this section

Publications for Osteogenesis Imperfecta, Type Ix

About this section

Variations for Osteogenesis Imperfecta, Type Ix

About this section

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

68
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
1NM_000942.4(PPIB): c.556_559delAAGA (p.Lys186Glnfs)deletionPathogenicrs137853869GRCh37Chr 15, 64448314: 64448317
2NM_000942.4(PPIB): c.451C> T (p.Gln151Ter)single nucleotide variantPathogenicrs121434559GRCh37Chr 15, 64449001: 64449001
3PPIBNM_000942.4(PPIB): c.26T> G (p.Met9Arg)single nucleotide variantPathogenicrs137853864GRCh37Chr 15, 64455160: 64455160
4PPIBNM_000942.4(PPIB): c.120delC (p.Val42Serfs)deletionPathogenicrs137853865GRCh37Chr 15, 64455066: 64455066
5PPIBNM_000942.4(PPIB): c.313G> A (p.Gly105Arg)single nucleotide variantPathogenicrs137853866GRCh37Chr 15, 64452333: 64452333
6NM_000942.4(PPIB): c.563_566delACAG (p.Asp188Alafs)deletionPathogenicrs398122834GRCh37Chr 15, 64448307: 64448310

Expression for genes affiliated with Osteogenesis Imperfecta, Type Ix

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

Pathways for genes affiliated with Osteogenesis Imperfecta, Type Ix

About this section

GO Terms for genes affiliated with Osteogenesis Imperfecta, Type Ix

About this section

Sources for Osteogenesis Imperfecta, Type Ix

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet