Details of Disease

General Information of Disease (ID: DIS8S46L)

Disease Name Osteogenesis imperfecta type 4
Synonyms
OI, type 4; osteogenesis imperfecta, type IV; OI type IV; common variable OI with normal sclerae; osteogenesis imperfecta with normal sclerae; osteogenesis imperfecta, type 4; osteogenesis imperfecta type IV; osteogenesis imperfecta with normal sclera; OI4; OI type 4
Definition
Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DIS8S46L: Osteogenesis imperfecta type 4
Disease Identifiers
MONDO ID
MONDO_0008148
MESH ID
C000631847
UMLS CUI
C0268363
OMIM ID
166220
MedGen ID
78665
Orphanet ID
216820
SNOMED CT ID
205497004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 11 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WNT1 OTULVPZW Supportive Autosomal dominant [1]
CRTAP OT53H5U6 Supportive Autosomal dominant [3]
FKBP10 OTYKLW1K Supportive Autosomal dominant [3]
PPIB OTLPH6KN Supportive Autosomal dominant [4]
SERPINF1 OTWZH98J Supportive Autosomal dominant [2]
SP7 OT07ETZT Supportive Autosomal dominant [3]
SPARC OTPN90H0 Supportive Autosomal dominant [5]
TMEM38B OT9NOC9B Supportive Autosomal dominant [8]
IFITM5 OTLP5QEJ Strong Genetic Variation [9]
COL1A1 OTI31178 Definitive Autosomal dominant [7]
COL1A2 OTY7G382 Definitive Autosomal dominant [7]
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⏷ Show the Full List of 11 DOT(s)
This Disease Is Related to 10 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FKBP10 TT4P8O2 Disputed GermlineCausalMutation [2]
SERPINF1 TTR59S1 Disputed GermlineCausalMutation [2]
FKBP10 TT4P8O2 Supportive Autosomal dominant [3]
PPIB TT6ZFQ4 Supportive Autosomal dominant [4]
SERPINF1 TTR59S1 Supportive Autosomal dominant [2]
SPARC TTBQFM7 Supportive Autosomal dominant [5]
COL1A2 TTUABC1 Strong CausalMutation [6]
COL1A2 TTUABC1 Definitive Autosomal dominant [7]
PPIB TT6ZFQ4 Definitive GermlineCausalMutation [4]
SPARC TTBQFM7 Definitive GermlineCausalMutation [5]
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⏷ Show the Full List of 10 DTT(s)

References

1 Mutations in WNT1 are a cause of osteogenesis imperfecta. J Med Genet. 2013 May;50(5):345-8. doi: 10.1136/jmedgenet-2013-101567. Epub 2013 Feb 23.
2 What is new in genetics and osteogenesis imperfecta classification?. J Pediatr (Rio J). 2014 Nov-Dec;90(6):536-41. doi: 10.1016/j.jped.2014.05.003. Epub 2014 Jul 18.
3 Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15.
4 Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Hum Mol Genet. 2011 Apr 15;20(8):1595-609. doi: 10.1093/hmg/ddr037. Epub 2011 Jan 31.
5 Recessive osteogenesis imperfecta caused by missense mutations in SPARC. Am J Hum Genet. 2015 Jun 4;96(6):979-85. doi: 10.1016/j.ajhg.2015.04.021. Epub 2015 May 28.
6 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.Eur J Hum Genet. 2015 Aug;23(8):1042-50. doi: 10.1038/ejhg.2015.81. Epub 2015 May 6.
7 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
8 Aurora-B overexpression is correlated with aneuploidy and poor prognosis in non-small cell lung cancer. Lung Cancer. 2013 Apr;80(1):85-90. doi: 10.1016/j.lungcan.2012.12.018. Epub 2013 Jan 11.
9 Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.J Bone Miner Res. 2013 Nov;28(11):2333-7. doi: 10.1002/jbmr.1983.