OI9
MCID: OST130
MIFTS: 31

Osteogenesis Imperfecta, Type Ix (OI9) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Osteogenesis Imperfecta, Type Ix

Aliases & Descriptions for Osteogenesis Imperfecta, Type Ix:

Name: Osteogenesis Imperfecta, Type Ix 54 13
Osteogenesis Imperfecta Type Ix 12 50 24 66
Osteogenesis Imperfecta Type 9 12 50 14
Osteogenesis Imperfecta Sillence Type Ii/iii Without Abnormality of Type I Collagen 50 66
Osteogenesis Imperfecta 9 66 29
Oi Type Ix 50 66
Oi9 12 66
Oi-Ix 66
Oi 9 50

Characteristics:

HPO:

32
osteogenesis imperfecta, type ix:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 259440
Disease Ontology 12 DOID:0110349
ICD10 33 Q78.0
MedGen 40 C1850169
MeSH 42 D010013

Summaries for Osteogenesis Imperfecta, Type Ix

UniProtKB/Swiss-Prot : 66 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, also known as osteogenesis imperfecta type ix, is related to xanthinuria and autism susceptibility 16, and has symptoms including pectus excavatum, scoliosis and kyphosis. An important gene associated with Osteogenesis Imperfecta, Type Ix is PPIB (Peptidylprolyl Isomerase B). Affiliated tissues include bone, and related phenotype is Increased HPV18 LCR reporter activity.

OMIM : 54 Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased... (259440) more...

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the PPIB gene on chromosome 15q22.

Related Diseases for Osteogenesis Imperfecta, Type Ix

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Ix

Symptoms by clinical synopsis from OMIM:

259440

Clinical features from OMIM:

259440

Human phenotypes related to Osteogenesis Imperfecta, Type Ix:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 HP:0000767
2 scoliosis 32 HP:0002650
3 kyphosis 32 HP:0002808
4 pectus carinatum 32 HP:0000768
5 dentinogenesis imperfecta 32 HP:0000703
6 wormian bones 32 HP:0002645
7 recurrent fractures 32 HP:0002757
8 disproportionate short-limb short stature 32 HP:0008873
9 blue sclerae 32 HP:0000592
10 multiple prenatal fractures 32 HP:0005855
11 bowing of limbs due to multiple fractures 32 HP:0003023

GenomeRNAi Phenotypes related to Osteogenesis Imperfecta, Type Ix according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased HPV18 LCR reporter activity GR00197-A-1 9.32 FKBP2
2 Increased HPV18 LCR reporter activity GR00197-A-3 9.32 FKBP2 PPIB
3 Increased HPV18 LCR reporter activity GR00197-A-4 9.32 PPIB FKBP2

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Ix

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

Genetic Tests for Osteogenesis Imperfecta, Type Ix

Genetic tests related to Osteogenesis Imperfecta, Type Ix:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 9 29
2 Osteogenesis Imperfecta Type Ix 24

Anatomical Context for Osteogenesis Imperfecta, Type Ix

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

39
Bone

Publications for Osteogenesis Imperfecta, Type Ix

Variations for Osteogenesis Imperfecta, Type Ix

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

66
id Symbol AA change Variation ID SNP ID
1 PPIB p.Met9Arg VAR_063436 rs137853864

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Ix:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PPIB NM_000942.4(PPIB): c.556_559delAAGA (p.Lys186Glnfs) deletion Pathogenic rs137853869 GRCh37 Chromosome 15, 64448314: 64448317
2 PPIB NM_000942.4(PPIB): c.451C> T (p.Gln151Ter) single nucleotide variant Pathogenic rs121434559 GRCh37 Chromosome 15, 64449001: 64449001
3 PPIB NM_000942.4(PPIB): c.26T> G (p.Met9Arg) single nucleotide variant Pathogenic rs137853864 GRCh37 Chromosome 15, 64455160: 64455160
4 PPIB NM_000942.4(PPIB): c.120delC (p.Val42Serfs) deletion Pathogenic rs137853865 GRCh37 Chromosome 15, 64455066: 64455066
5 PPIB NM_000942.4(PPIB): c.313G> A (p.Gly105Arg) single nucleotide variant Pathogenic rs137853866 GRCh37 Chromosome 15, 64452333: 64452333
6 PPIB NM_000942.4(PPIB): c.563_566delACAG (p.Asp188Alafs) deletion Pathogenic rs398122834 GRCh37 Chromosome 15, 64448307: 64448310

Expression for Osteogenesis Imperfecta, Type Ix

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

Pathways for Osteogenesis Imperfecta, Type Ix

GO Terms for Osteogenesis Imperfecta, Type Ix

Cellular components related to Osteogenesis Imperfecta, Type Ix according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.96 FKBP7 PPIB
2 endoplasmic reticulum GO:0005783 8.8 FKBP2 FKBP7 PPIB

Biological processes related to Osteogenesis Imperfecta, Type Ix according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 chaperone-mediated protein folding GO:0061077 9.13 FKBP2 FKBP7 PPIB
2 protein peptidyl-prolyl isomerization GO:0000413 8.8 FKBP2 FKBP7 PPIB

Molecular functions related to Osteogenesis Imperfecta, Type Ix according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 FK506 binding GO:0005528 9.16 FKBP2 FKBP7
2 isomerase activity GO:0016853 9.13 FKBP2 FKBP7 PPIB
3 peptidyl-prolyl cis-trans isomerase activity GO:0003755 8.8 FKBP2 FKBP7 PPIB

Sources for Osteogenesis Imperfecta, Type Ix

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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