MCID: OST130
MIFTS: 24

Osteogenesis Imperfecta, Type Ix malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases categories

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


Classifications:



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OMIM49 259440
MedGen34 C1850169
MeSH36 D010013

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 9, and has symptoms including autosomal recessive inheritance, blue sclerae and dentinogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta, Type Ix is PPIB (Peptidylprolyl Isomerase B (Cyclophilin 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 12)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 blue sclerae HP:0000592
3 dentinogenesis imperfecta HP:0000703
4 pectus excavatum HP:0000767
5 pectus carinatum HP:0000768
6 wormian bones HP:0002645
7 scoliosis HP:0002650
8 recurrent fractures HP:0002757
9 kyphosis HP:0002808
10 bowing of limbs due to multiple fractures HP:0003023
11 multiple prenatal fractures HP:0005855
12 disproportionate short-limb short stature 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 Ix22
2 Osteogenesis Imperfecta Type 924

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
1PPIBPPIB, 4-BP DEL, 556AAGAdeletionPathogenic
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
4NM_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