MCID: OST130
MIFTS: 24

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 49 11 65
Osteogenesis Imperfecta Type Ix 45 22 67
Osteogenesis Imperfecta Sillence Type Ii/iii Without Abnormality of Type I Collagen 45 67
Osteogenesis Imperfecta 9 67 24
Oi Type Ix 45 67
 
Osteogenesis Imperfecta Type 9 45
Oi-Ix 67
Oi 9 45
Oi9 67

Characteristics:

HPO:

61
osteogenesis imperfecta, type ix:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 259440
MedGen34 C1850169
MeSH36 D010013
UMLS65 C1850169

Summaries for Osteogenesis Imperfecta, Type Ix

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UniProtKB/Swiss-Prot:67 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 disproportionate short-limb short stature, multiple prenatal fractures and bowing of limbs due to multiple fractures. An important gene associated with Osteogenesis Imperfecta, Type Ix is PPIB (Peptidylprolyl Isomerase B). Affiliated tissues include bone.

OMIM:49 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

HPO human phenotypes related to Osteogenesis Imperfecta, Type Ix:

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

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 Ix22

Anatomical Context for Osteogenesis Imperfecta, Type Ix

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

33
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:

67
id Symbol AA change Variation ID SNP ID
1PPIBp.Met9ArgVAR_063436

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

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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet