Disease #00635 (OI4 (osteogenesis imperfecta, type IV (OI4)), OMIM:166220)

Official abbreviation OI4
Name osteogenesis imperfecta, type IV (OI4)
OMIM ID 166220
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 865
Phenotype entries for this disease 8
Associated with 2 genes COL1A1, COL1A2
Associated tissues -
Disease features -
Remarks -


Individuals

865 entries on 9 pages. Showing entries 1 - 100.
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00320462 - - The patient harbours a deletion of exons 1 to 6. The 5´ break-point lies somewhere 5´ to the start of transcription. The 3´ break-point lies somewhere within intron 6 between the +33 and -42 positions. - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320470 - PubMed: Liu et al., 2017 - - - - Chinese - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320501 - PubMed: Ho Duy et al., 2016 - - - - Vietnamese - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320508 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Xiuli Zhao
00320518 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320519 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320542 - - - - - - - - - - - OI, OI3, OI4 - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00320547 - PubMed: Yang et al., 2018 - - - - Han Chinese - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320554 EE19 PubMed: Zhytnik 2017 - - - Estonia - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Lidiia Zhytnik
00320561 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Xiuli Zhao
00320567 UA08 PubMed: Zhytnik 2019 - - - Ukraine - - - - - OI, OI4 - COL1A1 COL1A1, COL1A2 2 1 Lidiia Zhytnik
00320575 - PubMed: Pollitt et al., 2006 - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320589 - PubMed: Lin et al., 2015 - - - - Taiwanese - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320628 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Gerard Pals
00320629 - PubMed: Lin et al., 2015 The variant is incorrectly described as c.477_478insT. - - - Taiwanese - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320645 - - - - - - - - - - - OI, OI1, OI4 - COL1A1 COL1A1 1 1 Sofie Symoens
00320646 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00320694 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00320712 - PubMed: Witecka et al., 2008 The proband's father (patient 29) also harbours the same mutation. - - - - - - - - OI, OI1, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320713 - PubMed: Balasubramanian et al., 2015 The authors have confirmed that the patient's phenotype is OI type IV, rather than OI I/IV.The patient was subsequently presented again as Patient 1 by {PMID26863094:Balasubramanian et al., 2016}. - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320717 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - OI, OI3, OI4 - COL1A1 COL1A1 1 1 Peter Byers
00320718 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Peter Byers
00320721 - PubMed: Marini et al., 2007 - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Peter Byers
00320722 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Peter Byers
00320724 - PubMed: Cabral et al., 2005 In figure 2b of Cabral et al. the mutation is mistakenly described as a substitution to aspartic acid. - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320725 - PubMed: Cabral et al., 2005 In figure 2b of Cabral et al. the mutation is mistakenly described as a substitution to aspartic acid. - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320726 - PubMed: Marini et al., 2007 (Roughley and Glorieux, personal communication) - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320730 - PubMed: Gardner et al., 2018 - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Nick Shaw
00320742 - - - - - - Chinese - - - - OI, OI4 - COL1A1 COL1A1 1 1 Yanqin Lu
00320744 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - OI, OI4 - COL1A1 COL1A1 1 1 Katarina Lindahl
00320752 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Xiuli Zhao
00320754 - PubMed: Cabral et al., 2005 - - - - - - - - - OI, OI3, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320755 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - - - - - - - - - OI, OI1, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320756 - PubMed: Zhang et al., 2011 - - - - Han Chinese - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320757 - - - - - - Han - - - - OI, OI4 - COL1A1 COL1A1 1 1 Xue Bai
00320758 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Xiuli Zhao
00320760 - PubMed: Lin et al., 2015 - - - - Taiwanese - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320761 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Xiuli Zhao
00320762 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Xiuli Zhao
00320763 - PubMed: Bateman et al., 1994 A cryptic splice site in intron 7 is activated resulting in 96 bp of intron 7 being retained in the mRNA from the mutant allele. This results in a 32 amino acid non-collagenous insertion. - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320765 - - - - - - Chinese - - - - OI, OI4 - COL1A1 COL1A1 1 1 Yanqin Lu
00320767 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Xiuli Zhao
00320774 - - - - - - white - - - - OI, OI4 - COL1A1 COL1A1 1 1 Peter Roughley
00320792 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Sofie Symoens
00320798 - - - - - - - - - - - OI, OI1, OI4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320807 - PubMed: Gentile et al., 2013 The predicted disease phenotype for this patient would normally be OI I, rather than OI IV. The reported phenotype has been confirmed by the submitter. - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320809 - - - - - - - - - - - OI, OI3, OI4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320813 - PubMed: Marini et al., 2007 (Roughley and Glorieux, personal communication) - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320818 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320821 - PubMed: Marini et al., 2007 (Byers, personal communication) Skips exon 10. - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Peter Byers
00320823 - PubMed: Rolvien et al., 2018 The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien. - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320826 - PubMed: Marini et al., 2007 - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Peter Roughley
00320828 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Xiuli Zhao
00320839 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Xiuli Zhao
00320842 EE04 PubMed: Zhytnik 2017 - - - Estonia - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Lidiia Zhytnik
00320848 - PubMed: Lindahl et al., 2015 - - - - Kurdish - - - - OI, OI4 - COL1A1 COL1A1 1 1 Katarina Lindahl
00320853 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320856 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320857 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320859 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320861 UA57 PubMed: Zhytnik 2019 - - - Ukraine - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Lidiia Zhytnik
00320872 - PubMed: Lee et al., 2006 - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320873 - PubMed: Venturi et al., 2006 - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320874 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Peter Byers
00320875 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Peter Byers
00320876 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Peter Byers
00320877 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Peter Byers
00320882 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320884 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00320889 - PubMed: Gentile et al., 2013 - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320892 - - - - - - - - - - - OI, OI1, OI4 - COL1A1 COL1A1 1 1 Sofie Symoens
00320893 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Sofie Symoens
00320898 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320904 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Xiuli Zhao
00320908 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Xiuli Zhao
00320910 - PubMed: Bardai et al.,2016 The technique used was the custom NGS Gene panel. - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Ghalib Bardai, Patrizia Mason
00320916 - PubMed: Zarate et al., 2016 - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320917 - PubMed: Cabral et al., 2005 - - - - - - - - - OI, OI3, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320923 UA80 PubMed: Zhytnik 2019 - - - Ukraine - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Lidiia Zhytnik
00320929 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - - - - - - - - - OI, OI1, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320930 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - - - - - - - - - OI, OI3, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320936 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Xiuli Zhao
00320938 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - OI, OI1, OI4 - COL1A1 COL1A1 1 1 Peter Byers
00320940 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00320943 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Peter Byers
00320945 - - - - - - - - - - - OI, OI3, OI4 - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00320947 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320951 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - - - - OI, OI1, OI4 - COL1A1 COL1A1 1 1 Peter Byers
00320957 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Xiuli Zhao
00320958 UA43 PubMed: Zhytnik 2019 - - - Ukraine - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Lidiia Zhytnik
00320959 UA56 PubMed: Zhytnik 2019 - - - Ukraine - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Lidiia Zhytnik
00320962 - PubMed: Lin et al., 2015 The variant in this pateint is not known to affect splicing. - - - Taiwanese - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320966 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320967 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320970 - PubMed: Adur et al., 2013 The patient is described as having moderate OI. - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320976 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320978 - PubMed: Hartikka et al., 2004 - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320993 - PubMed: Ward et al., 2001 - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320994 - - - - - - - - - - - OI, OI4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320996 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - - - - - - - - - OI, OI3, OI4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
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