Details of Disease

General Information of Disease (ID: DISFJVSJ)

Disease Name Osteogenesis imperfecta type 3
Synonyms
osteogenesis imperfecta, progressively deforming with normal sclerae; osteogenesis imperfecta, type 3; OI, type 3; osteogenesis imperfecta, progressively deforming, with normal sclerae; OI type III; osteogenesis imperfecta, type III; Oi3; progressively deforming OI; osteogenesis imperfecta type III; progressive deforming osteogenesis imperfecta; OI type 3; progressively deforming osteogenesis imperfecta with normal sclera; OI3; severe osteogenesis imperfecta; osteogenesis imperfecta type 3
Definition
Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DISFJVSJ: Osteogenesis imperfecta type 3
Disease Identifiers
MONDO ID
MONDO_0009804
MESH ID
C536044
UMLS CUI
C0268362
OMIM ID
259420
MedGen ID
78664
Orphanet ID
216812
SNOMED CT ID
385483009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 13 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WNT1 OTULVPZW Supportive Autosomal dominant [1]
BMP1 OTRFFAL4 Supportive Autosomal dominant [3]
CREB3L1 OT2JHIHM Supportive Autosomal dominant [8]
CRTAP OT53H5U6 Supportive Autosomal dominant [4]
FKBP10 OTYKLW1K Supportive Autosomal dominant [4]
P3H1 OT2TFW25 Supportive Autosomal dominant [4]
PPIB OTLPH6KN Supportive Autosomal dominant [4]
SERPINF1 OTWZH98J Supportive Autosomal dominant [5]
SERPINH1 OTKGI7BS Supportive Autosomal dominant [4]
SMPD3 OTHQBETH Strong Biomarker [9]
TENT5A OTSYF511 Strong Genetic Variation [10]
COL1A1 OTI31178 Definitive Autosomal dominant [7]
COL1A2 OTY7G382 Definitive Autosomal dominant [7]
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⏷ Show the Full List of 13 DOT(s)
This Disease Is Related to 12 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SERPINF1 TTR59S1 Disputed GermlineCausalMutation [2]
BMP1 TT0L58T Supportive Autosomal dominant [3]
FKBP10 TT4P8O2 Supportive Autosomal dominant [4]
PPIB TT6ZFQ4 Supportive Autosomal dominant [4]
SERPINF1 TTR59S1 Supportive Autosomal dominant [5]
SERPINH1 TTPSWQG Supportive Autosomal dominant [4]
BMP1 TT0L58T Strong GermlineCausalMutation [3]
COL1A2 TTUABC1 Strong Genetic Variation [6]
FKBP10 TT4P8O2 Strong GermlineCausalMutation [2]
PPIB TT6ZFQ4 Strong GermlineCausalMutation [4]
SERPINH1 TTPSWQG Strong GermlineCausalMutation [4]
COL1A2 TTUABC1 Definitive Autosomal dominant [7]
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⏷ Show the Full List of 12 DTT(s)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
P3H1 DEW527E Supportive Autosomal dominant [4]
P3H1 DEW527E Strong GermlineCausalMutation [4]
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References

1 WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. Am J Hum Genet. 2013 Apr 4;92(4):590-7. doi: 10.1016/j.ajhg.2013.02.009. Epub 2013 Mar 14.
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 Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat. 2012 Feb;33(2):343-50. doi: 10.1002/humu.21647. Epub 2011 Nov 30.
4 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.
5 Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2011 Mar 11;88(3):362-71. doi: 10.1016/j.ajhg.2011.01.015. Epub 2011 Feb 25.
6 Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.Acta Biochim Pol. 2018;65(1):79-86. doi: 10.18388/abp.2017_1612. Epub 2018 Mar 15.
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 Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. Orphanet J Rare Dis. 2013 Sep 30;8:154. doi: 10.1186/1750-1172-8-154.
9 A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse.Nat Genet. 2005 Aug;37(8):803-5. doi: 10.1038/ng1603. Epub 2005 Jul 17.
10 FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. J Med Genet. 2018 Apr;55(4):278-284. doi: 10.1136/jmedgenet-2017-104999. Epub 2018 Jan 22.