OI9
MCID: OST130
MIFTS: 34

Osteogenesis Imperfecta, Type Ix (OI9)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Osteogenesis Imperfecta, Type Ix

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Ix:

Name: Osteogenesis Imperfecta, Type Ix 57 13
Osteogenesis Imperfecta Type 9 12 20 29 6 15
Osteogenesis Imperfecta Type Ix 12 20 72 39
Oi9 57 12 72
Osteogenesis Imperfecta Sillence Type Ii/iii Without Abnormality of Type I Collagen 20 72
Oi Type Ix 20 72
Osteogenesis Imperfecta 9 72
Oi, Type Ix 57
Oi-Ix 72
Oi 9 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
osteogenesis imperfecta, type ix:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110349
OMIM® 57 259440
OMIM Phenotypic Series 57 PS166200
MeSH 44 D010013
ICD10 32 Q78.0
MedGen 41 C1850169

Summaries for Osteogenesis Imperfecta, Type Ix

UniProtKB/Swiss-Prot : 72 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 9, is related to osteogenesis imperfecta, type ii and brittle bone disorder. An important gene associated with Osteogenesis Imperfecta, Type Ix is PPIB (Peptidylprolyl Isomerase B). Related phenotypes are scoliosis and kyphosis

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

OMIM® : 57 Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009). (259440) (Updated 05-Apr-2021)

Related Diseases for Osteogenesis Imperfecta, Type Ix

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Ix

Human phenotypes related to Osteogenesis Imperfecta, Type Ix:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 kyphosis 31 HP:0002808
3 pectus carinatum 31 HP:0000768
4 pectus excavatum 31 HP:0000767
5 platyspondyly 31 HP:0000926
6 recurrent fractures 31 HP:0002757
7 wormian bones 31 HP:0002645
8 blue sclerae 31 HP:0000592
9 decreased calvarial ossification 31 HP:0005474
10 disproportionate short-limb short stature 31 HP:0008873
11 short lower limbs 31 HP:0006385
12 dentinogenesis imperfecta 31 HP:0000703
13 multiple prenatal fractures 31 HP:0005855
14 beaded ribs 31 HP:0000923
15 bowing of limbs due to multiple fractures 31 HP:0003023

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis

Growth Height:
short limb dwarfism

Head And Neck Eyes:
white to gray sclerae

Skeletal Limbs:
bowing of limbs due to multiple fractures

Skeletal:
numerous multiple fractures present at birth

Clinical features from OMIM®:

259440 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.32 SLC26A2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.32 SLC26A2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.32 SLC26A2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.32 SLC26A2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.32 SLC26A2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.32 SLC26A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-155 9.32 SLC26A2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.32 SLC26A2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.32 NCAPD2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.32 NCAPD2

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:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type 9 29 PPIB

Anatomical Context for Osteogenesis Imperfecta, Type Ix

Publications for Osteogenesis Imperfecta, Type Ix

Articles related to Osteogenesis Imperfecta, Type Ix:

(show all 11)
# Title Authors PMID Year
1
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. 6 57
22718341 2012
2
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. 6 57
21282188 2011
3
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. 6 57
20089953 2010
4
Osteogenesis imperfecta, normal collagen folding, and lack of cyclophilin B. 6
20484404 2010
5
PPIB mutations cause severe osteogenesis imperfecta. 57
19781681 2009
6
Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta. 57
2650933 1989
7
Genetic heterogeneity in osteogenesis imperfecta. 57
458828 1979
8
Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in PPIB Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound. 61
32392875 2020
9
Cyclophilin B Deficiency Causes Abnormal Dentin Collagen Matrix. 61
28696707 2017
10
Two novel mutations in the PPIB gene cause a rare pedigree of osteogenesis imperfecta type IX. 61
28242392 2017
11
Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta. 61
24968150 2014

Variations for Osteogenesis Imperfecta, Type Ix

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Ix:

6 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPIB , SNX22 NM_000942.5(PPIB):c.556_559del (p.Lys186fs) Deletion Pathogenic 16925 rs137853869 GRCh37: 15:64448314-64448317
GRCh38: 15:64156115-64156118
2 PPIB , SNX22 NM_000942.5(PPIB):c.451C>T (p.Gln151Ter) SNV Pathogenic 16926 rs121434559 GRCh37: 15:64449001-64449001
GRCh38: 15:64156802-64156802
3 PPIB NM_000942.4(PPIB):c.26T>G (p.Met9Arg) SNV Pathogenic 16927 rs137853864 GRCh37: 15:64455160-64455160
GRCh38: 15:64162961-64162961
4 PPIB , SNX22 NM_000942.5(PPIB):c.559_562ACAG[1] (p.Asp188fs) Microsatellite Pathogenic 41422 rs398122834 GRCh37: 15:64448307-64448310
GRCh38: 15:64156108-64156111
5 PPIB NM_000942.4(PPIB):c.313G>A (p.Gly105Arg) SNV Pathogenic 31844 rs137853866 GRCh37: 15:64452333-64452333
GRCh38: 15:64160134-64160134
6 PPIB NM_000942.4(PPIB):c.120del (p.Val42fs) Deletion Pathogenic 31843 rs137853865 GRCh37: 15:64455066-64455066
GRCh38: 15:64162867-64162867
7 PPIB , SNX22 NM_000942.5(PPIB):c.344-1G>T SNV Pathogenic 993834 GRCh37: 15:64449109-64449109
GRCh38: 15:64156910-64156910
8 PPIB NC_000015.10:g.64163078G>T SNV Uncertain significance 884248 GRCh37: 15:64455277-64455277
GRCh38: 15:64163078-64163078
9 PPIB , SNX22 NM_000942.5(PPIB):c.*154C>T SNV Uncertain significance 885311 GRCh37: 15:64448068-64448068
GRCh38: 15:64155869-64155869
10 PPIB , SNX22 NM_000942.5(PPIB):c.*80C>T SNV Uncertain significance 885312 GRCh37: 15:64448142-64448142
GRCh38: 15:64155943-64155943
11 PPIB , SNX22 NM_000942.5(PPIB):c.*65G>C SNV Uncertain significance 885313 GRCh37: 15:64448157-64448157
GRCh38: 15:64155958-64155958
12 PPIB , SNX22 NM_000942.5(PPIB):c.*14C>A SNV Uncertain significance 886215 GRCh37: 15:64448208-64448208
GRCh38: 15:64156009-64156009
13 PPIB , SNX22 NM_000942.5(PPIB):c.528+14G>A SNV Uncertain significance 886216 GRCh37: 15:64448910-64448910
GRCh38: 15:64156711-64156711
14 PPIB , SNX22 NM_000942.5(PPIB):c.444C>T (p.Asn148=) SNV Uncertain significance 886217 GRCh37: 15:64449008-64449008
GRCh38: 15:64156809-64156809
15 PPIB , SNX22 NM_000942.5(PPIB):c.359G>A (p.Gly120Asp) SNV Uncertain significance 887218 GRCh37: 15:64449093-64449093
GRCh38: 15:64156894-64156894
16 PPIB NM_000942.5(PPIB):c.300C>A (p.Phe100Leu) SNV Uncertain significance 887219 GRCh37: 15:64452346-64452346
GRCh38: 15:64160147-64160147
17 PPIB NM_000942.5(PPIB):c.249+12G>A SNV Uncertain significance 887220 GRCh37: 15:64454228-64454228
GRCh38: 15:64162029-64162029
18 PPIB NM_000942.5(PPIB):c.57G>T (p.Ala19=) SNV Uncertain significance 888473 GRCh37: 15:64455129-64455129
GRCh38: 15:64162930-64162930
19 PPIB NM_000942.5(PPIB):c.-9C>G SNV Uncertain significance 888474 GRCh37: 15:64455194-64455194
GRCh38: 15:64162995-64162995
20 PPIB NM_000942.5(PPIB):c.-12C>G SNV Uncertain significance 888475 GRCh37: 15:64455197-64455197
GRCh38: 15:64162998-64162998
21 PPIB NC_000015.10:g.64163078G>A SNV Uncertain significance 888476 GRCh37: 15:64455277-64455277
GRCh38: 15:64163078-64163078
22 PPIB NC_000015.10:g.64163078G>C SNV Uncertain significance 888477 GRCh37: 15:64455277-64455277
GRCh38: 15:64163078-64163078
23 PPIB , SNX22 NM_000942.5(PPIB):c.597C>T (p.Ile199=) SNV Uncertain significance 316701 rs369889089 GRCh37: 15:64448276-64448276
GRCh38: 15:64156077-64156077
24 PPIB , SNX22 NM_000942.5(PPIB):c.364C>T (p.Arg122Cys) SNV Uncertain significance 316703 rs886051322 GRCh37: 15:64449088-64449088
GRCh38: 15:64156889-64156889
25 PPIB , SNX22 NM_000942.5(PPIB):c.*12A>G SNV Uncertain significance 316700 rs763342854 GRCh37: 15:64448210-64448210
GRCh38: 15:64156011-64156011
26 PPIB NM_000942.4(PPIB):c.58G>T (p.Gly20Trp) SNV Uncertain significance 316705 rs886051324 GRCh37: 15:64455128-64455128
GRCh38: 15:64162929-64162929
27 PPIB NM_000942.4(PPIB):c.-91A>C SNV Uncertain significance 316708 rs544474028 GRCh37: 15:64455276-64455276
GRCh38: 15:64163077-64163077
28 PPIB NM_000942.4(PPIB):c.-118A>G SNV Uncertain significance 316711 rs886051327 GRCh37: 15:64455303-64455303
GRCh38: 15:64163104-64163104
29 PPIB NM_000942.4(PPIB):c.279C>T (p.Phe93=) SNV Uncertain significance 316704 rs886051323 GRCh37: 15:64452367-64452367
GRCh38: 15:64160168-64160168
30 PPIB NM_000942.4(PPIB):c.-94C>G SNV Uncertain significance 316709 rs369957382 GRCh37: 15:64455279-64455279
GRCh38: 15:64163080-64163080
31 PPIB NM_000942.4(PPIB):c.-56C>A SNV Uncertain significance 316706 rs886051325 GRCh37: 15:64455241-64455241
GRCh38: 15:64163042-64163042
32 PPIB NM_000942.4(PPIB):c.-136C>T SNV Uncertain significance 316712 rs886051328 GRCh37: 15:64455321-64455321
GRCh38: 15:64163122-64163122
33 PPIB , SNX22 NM_000942.5(PPIB):c.426C>T (p.Asn142=) SNV Uncertain significance 316702 rs766129397 GRCh37: 15:64449026-64449026
GRCh38: 15:64156827-64156827
34 PPIB , SNX22 NM_000942.5(PPIB):c.*190T>G SNV Uncertain significance 316699 rs113626158 GRCh37: 15:64448032-64448032
GRCh38: 15:64155833-64155833
35 PPIB NM_000942.4(PPIB):c.-98C>A SNV Uncertain significance 316710 rs527689470 GRCh37: 15:64455283-64455283
GRCh38: 15:64163084-64163084
36 PPIB NM_000942.4(PPIB):c.-57G>A SNV Uncertain significance 316707 rs886051326 GRCh37: 15:64455242-64455242
GRCh38: 15:64163043-64163043
37 PPIB NM_000942.4(PPIB):c.-139C>T SNV Uncertain significance 316713 rs886051329 GRCh37: 15:64455324-64455324
GRCh38: 15:64163125-64163125
38 PPIB NM_000942.4(PPIB):c.250-1G>A SNV Uncertain significance 632241 rs1219861826 GRCh37: 15:64452397-64452397
GRCh38: 15:64160198-64160198
39 PPIB , SNX22 NM_000942.5(PPIB):c.615C>T (p.Ile205=) SNV Likely benign 811804 rs1596027267 GRCh37: 15:64448258-64448258
GRCh38: 15:64156059-64156059
40 PPIB NM_000942.4(PPIB):c.85G>A (p.Gly29Arg) SNV Likely benign 669151 rs200307684 GRCh37: 15:64455101-64455101
GRCh38: 15:64162902-64162902
41 PPIB , SNX22 NM_000942.5(PPIB):c.*21T>A SNV Benign 886214 GRCh37: 15:64448201-64448201
GRCh38: 15:64156002-64156002
42 PPIB NM_000942.4(PPIB):c.63C>A (p.Ser21=) SNV Benign 31849 rs4904 GRCh37: 15:64455123-64455123
GRCh38: 15:64162924-64162924
43 PPIB NM_000942.4(PPIB):c.324C>T (p.Thr108=) SNV Benign 31847 rs2307247 GRCh37: 15:64452322-64452322
GRCh38: 15:64160123-64160123
44 PPIB , SNX22 NM_000942.5(PPIB):c.344-61C>T SNV Benign 811590 rs2241995 GRCh37: 15:64449169-64449169
GRCh38: 15:64156970-64156970

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

72
# Symbol AA change Variation ID SNP ID
1 PPIB p.Met9Arg VAR_063436 rs137853864

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

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

# Name GO ID Score Top Affiliating Genes
1 protein folding GO:0006457 8.96 PPIB FKBP6
2 protein peptidyl-prolyl isomerization GO:0000413 8.8 PPIB FKBP6 FKBP2

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

# Name GO ID Score Top Affiliating Genes
1 isomerase activity GO:0016853 9.33 PPIB FKBP6 FKBP2
2 FK506 binding GO:0005528 8.96 FKBP6 FKBP2
3 peptidyl-prolyl cis-trans isomerase activity GO:0003755 8.8 PPIB FKBP6 FKBP2

Sources for Osteogenesis Imperfecta, Type Ix

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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