OI 9
MCID: OST043
MIFTS: 44

Osteogenesis Imperfecta Type 9 (OI 9) malady

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

Summaries for Osteogenesis Imperfecta Type 9

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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 9, also known as osteogenesis imperfecta sillence type ii/iii without abnormality of type i collagen, is related to col1a1/2-related osteogenesis imperfecta and osteogenesis imperfecta, type ii, and has symptoms including autosomal recessive inheritance, blue sclerae and dentinogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta Type 9 is PPIB (peptidylprolyl isomerase B (cyclophilin B)), and among its related pathways are Cell adhesion Integrin mediated cell adhesion and migration and Amoebiasis. The drugs calcitonin and salmon calcitonin and the compounds nppa and carbodiimide have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are integument and skeleton.

Aliases & Classifications for Osteogenesis Imperfecta Type 9

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Osteogenesis Imperfecta Type 9, Aliases & Descriptions:

Name: Osteogenesis Imperfecta Type 9 42 21 23
Osteogenesis Imperfecta Sillence Type Ii/iii Without Abnormality of Type I Collagen 42
Osteogenesis Imperfecta, Type Ix 46
 
Osteogenesis Imperfecta 61
Oi Type Ix 42
Oi 9 42


Classifications:



Related Diseases for Osteogenesis Imperfecta Type 9

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Diseases in the Osteogenesis Imperfecta Type Iii family:

Osteogenesis Imperfecta Osteogenesis Imperfecta Type I
Osteogenesis Imperfecta Type 1a Osteogenesis Imperfecta Type 2a
Osteogenesis Imperfecta Type 2b Osteogenesis Imperfecta Type 4
Osteogenesis Imperfecta Type 5 Osteogenesis Imperfecta Type 6
Osteogenesis Imperfecta Type 7 Osteogenesis Imperfecta Type 8
osteogenesis imperfecta type 9 Crtap-Related Osteogenesis Imperfecta
Lepre1-Related Osteogenesis Imperfecta Ppib-Related Osteogenesis Imperfecta
Fkbp10-Related Osteogenesis Imperfecta Serpinf1-Related Osteogenesis Imperfecta
Serpinh1-Related Osteogenesis Imperfecta Sp7-Related Osteogenesis Imperfecta
Ifitm5-Related Osteogenesis Imperfecta Bmp1-Related Osteogenesis Imperfecta
Osteogenesis Imperfecta Type Xi Osteogenesis Imperfecta Type X
Osteogenesis Imperfecta Type Xii Osteogenesis Imperfecta Type Xiii
Osteogenesis Imperfecta, Type Ii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type Xv

Diseases related to Osteogenesis Imperfecta Type 9 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1col1a1/2-related osteogenesis imperfecta10.0COL1A2, COL1A1
2osteogenesis imperfecta, type ii10.0COL1A2, COL1A1
3osteogenesis imperfecta type iii10.0COL1A2, COL1A1
4osteogenesis imperfecta type i10.0COL1A1, COL1A2
5osteogenesis imperfecta type 410.0COL1A1, COL1A2
6ehlers-danlos syndrome classical type10.0COL1A1, COL1A2
7otosclerosis10.0COL1A2, COL1A1
8dentinogenesis imperfecta10.0COL1A1, COL1A2
9ehlers-danlos syndrome9.9COL1A2, COL1A1
10connective tissue disease9.9COL1A2, COL1A1
11pulmonary fibrosis9.9COL1A1, COL1A2
12osteoarthritis9.9COL1A1, COL1A2
13systemic scleroderma9.8COL1A2, COL1A1
14osteogenesis imperfecta9.8COL1A2, COL1A1, PPIB
15osteoporosis9.8COL1A2, COL1A1

Graphical network of diseases related to Osteogenesis Imperfecta Type 9:



Diseases related to osteogenesis imperfecta type 9

Symptoms for Osteogenesis Imperfecta Type 9

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Symptoms by clinical synopsis from OMIM:

259440

Clinical features from OMIM:

259440

HPO human phenotypes related to Osteogenesis Imperfecta Type 9:

(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 9

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Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta Type 9

Search NIH Clinical Center for Osteogenesis Imperfecta Type 9

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Osteogenesis Imperfecta Type 9

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Genetic tests related to Osteogenesis Imperfecta Type 9:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type Ix21
2 Osteogenesis Imperfecta Type 923

Anatomical Context for Osteogenesis Imperfecta Type 9

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MalaCards organs/tissues related to Osteogenesis Imperfecta Type 9:

32
Bone

Animal Models for Osteogenesis Imperfecta Type 9 or affiliated genes

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MGI Mouse Phenotypes related to Osteogenesis Imperfecta Type 9:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5COL1A2, COL1A1, PPIB
2MP:00053908.2COL1A2, COL1A1, PPIB

Publications for Osteogenesis Imperfecta Type 9

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Variations for Osteogenesis Imperfecta Type 9

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UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta Type 9:

63
id Symbol AA change Variation ID SNP ID
1PPIBp.Met9ArgVAR_063436

Clinvar genetic disease variations for Osteogenesis Imperfecta Type 9:

7
id Gene Name 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
4COL1A1NM_000088.3(COL1A1): c.3583G> T (p.Gly1195Cys)single nucleotide variantPathogenicrs72656334GRCh37Chr 17, 48264232: 48264232
5COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
6COL1A1NM_000088.3(COL1A1): c.787G> A (p.Gly263Arg)single nucleotide variantPathogenicrs72645323GRCh37Chr 17, 48274388: 48274388
7COL1A1NM_000088.3(COL1A1): c.1200+1G> Asingle nucleotide variantPathogenicrs72648320GRCh37Chr 17, 48272794: 48272794
8COL1A1NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter)single nucleotide variantPathogenicrs72653173GRCh37Chr 17, 48266126: 48266126
9COL1A2NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser)single nucleotide variantPathogenicrs72656387GRCh37Chr 7, 94038679: 94038679
10NM_000942.4(PPIB): c.563_566delACAG (p.Asp188Alafs)deletionPathogenicrs398122834GRCh37Chr 15, 64448307: 64448310

Expression for genes affiliated with Osteogenesis Imperfecta Type 9

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Expression patterns in normal tissues for genes affiliated with Osteogenesis Imperfecta Type 9

Search GEO for disease gene expression data for Osteogenesis Imperfecta Type 9.

Pathways for genes affiliated with Osteogenesis Imperfecta Type 9

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Pathways related to Osteogenesis Imperfecta Type 9 according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility59
Cytoskeleton remodeling Integrin outside in signaling59
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases59
Cell adhesion Tight junctions59
Development MAG dependent inhibition of neurite outgrowth59
9.1COL1A2, COL1A1
29.1COL1A1, COL1A2
3
Show member pathways
9.1COL1A2, COL1A1
4
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
9.1COL1A1, COL1A2
5
Show member pathways
Cytoskeleton remodeling FAK signaling59
Development Endothelin 1 EDNRA transactivation of EGFR59
9.1COL1A2, COL1A1
6
Show member pathways
9.1COL1A2, COL1A1
79.1COL1A2, COL1A1
8
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.1COL1A2, COL1A1
99.1COL1A2, COL1A1
109.1COL1A1, COL1A2
119.1COL1A1, COL1A2
12
Show member pathways
9.1COL1A2, COL1A1
139.1COL1A2, COL1A1
149.1COL1A2, COL1A1
15
Show member pathways
9.1COL1A2, COL1A1
169.1COL1A1, COL1A2
17
Show member pathways
8.5COL1A2, COL1A1, PPIB
18
Show member pathways
8.5COL1A2, COL1A1, PPIB

Compounds for genes affiliated with Osteogenesis Imperfecta Type 9

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Compounds related to Osteogenesis Imperfecta Type 9 according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1nppa449.4COL1A1, COL1A2
2carbodiimide449.4COL1A1, COL1A2
3nppb29 44 6011.4COL1A1, COL1A2
4xbai449.3COL1A2, COL1A1
5ecori449.3COL1A1, COL1A2
6rsai449.3COL1A2, COL1A1
7mspi449.2COL1A2, COL1A1
8procollagen449.2COL1A1, COL1A2
9simvastatin44 50 60 29 25 1214.1COL1A2, COL1A1
10vitamin d449.1COL1A1, COL1A2
11chloramphenicol44 3 50 1212.0COL1A1, COL1A2
12ribonucleic acid448.8COL1A1, COL1A2

GO Terms for genes affiliated with Osteogenesis Imperfecta Type 9

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Cellular components related to Osteogenesis Imperfecta Type 9 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.1COL1A2, COL1A1
2collagen type IGO:0055849.0COL1A2, COL1A1
3endoplasmic reticulum lumenGO:0057888.2COL1A2, COL1A1, PPIB

Biological processes related to Osteogenesis Imperfecta Type 9 according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.4COL1A1, COL1A2
2protein heterotrimerizationGO:0702089.4COL1A1, COL1A2
3collagen fibril organizationGO:0301999.3COL1A2, COL1A1
4blood vessel developmentGO:0015689.3COL1A1, COL1A2
5cellular response to amino acid stimulusGO:0712309.2COL1A2, COL1A1
6collagen catabolic processGO:0305749.2COL1A2, COL1A1
7extracellular matrix disassemblyGO:0226179.1COL1A2, COL1A1
8platelet activationGO:0301689.1COL1A2, COL1A1
9leukocyte migrationGO:0509009.0COL1A1, COL1A2
10skeletal system developmentGO:0015018.8COL1A1, COL1A2
11extracellular matrix organizationGO:0301988.7PPIB, COL1A1, COL1A2

Molecular functions related to Osteogenesis Imperfecta Type 9 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.1COL1A2, COL1A1
2platelet-derived growth factor bindingGO:0484078.8COL1A2, COL1A1

Products for genes affiliated with Osteogenesis Imperfecta Type 9

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Sources for Osteogenesis Imperfecta Type 9

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet