MCID: OST130
MIFTS: 21

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 46 9
Osteogenesis Imperfecta Type 9 42 20 22
Osteogenesis Imperfecta Sillence Type Ii/iii Without Abnormality of Type I Collagen 42
 
Oi Type Ix 42
Oi 9 42


Classifications:



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OMIM46 259440

Summaries for Osteogenesis Imperfecta, Type Ix

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OMIM:46 Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased... (259440) more...

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.

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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Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta, Type Ix

Search 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 Ix20
2 Osteogenesis Imperfecta Type 922

Anatomical Context for Osteogenesis Imperfecta, Type Ix

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

31
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:

63
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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet