Disease #00635 (OI-4 (osteogenesis imperfecta, type IV (OI-4)), OMIM:166220)

Official abbreviation OI-4
Name osteogenesis imperfecta, type IV (OI-4)
OMIM ID 166220
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 733
Phenotype entries for this disease 0
Associated with 2 genes COL1A1, COL1A2
Associated tissues -
Disease features -
Remarks -


Individuals

733 entries on 8 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. - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320470 - PubMed: Liu et al., 2017 - - - - Chinese - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320501 - PubMed: Ho Duy et al., 2016 - - - - Vietnamese - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320518 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320519 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320542 - - - - - - - - 0 - - OI, OI-3, OI-4 - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00320547 - PubMed: Yang et al., 2018 - - - - Han Chinese - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320554 - PubMed: Zhytnik et al., 2017 - - - - Estonian - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Lidiia Zhytnik
00320575 - PubMed: Pollitt et al., 2006 - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320589 - PubMed: Lin et al., 2015 - - - - Taiwanese - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320628 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Gerard Pals
00320629 - PubMed: Lin et al., 2015 The variant is incorrectly described as c.477_478insT. - - - Taiwanese - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320645 - - - - - - - - 0 - - OI, OI-1, OI-4 - COL1A1 COL1A1 1 1 Sofie Symoens
00320646 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00320694 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00320712 - PubMed: Witecka et al., 2008 The proband's father (patient 29) also harbours the same mutation. - - - - - 0 - - OI, OI-1, OI-4 - 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}. - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320717 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - 0 - - OI, OI-3, OI-4 - COL1A1 COL1A1 1 1 Peter Byers
00320718 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Peter Byers
00320721 - PubMed: Marini et al., 2007 - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Peter Byers
00320722 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - 0 - - OI, OI-4 - 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. - - - - - 0 - - OI, OI-4 - 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. - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320726 - PubMed: Marini et al., 2007 (Roughley and Glorieux, personal communication) - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320730 - PubMed: Gardner et al., 2018 - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Nick Shaw
00320742 - - - - - - Chinese - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Yanqin Lu
00320744 - PubMed: Lindahl et al., 2015 - - - - Swedish - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Katarina Lindahl
00320754 - PubMed: Cabral et al., 2005 - - - - - - 0 - - OI, OI-3, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320755 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - - - - - - 0 - - OI, OI-1, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320756 - PubMed: Zhang et al., 2011 - - - - Han Chinese - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320757 - - - - - - Han - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Xue Bai
00320760 - PubMed: Lin et al., 2015 - - - - Taiwanese - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
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. - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320765 - - - - - - Chinese - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Yanqin Lu
00320774 - - - - - - Caucasian - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Peter Roughley
00320792 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Sofie Symoens
00320798 - - - - - - - - 0 - - OI, OI-1, OI-4 - 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. - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320809 - - - - - - - - 0 - - OI, OI-3, OI-4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320813 - PubMed: Marini et al., 2007 (Roughley and Glorieux, personal communication) - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320818 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320821 - PubMed: Marini et al., 2007 (Byers, personal communication) Skips exon 10. - - - - - 0 - - OI, OI-4 - 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. - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320826 - PubMed: Marini et al., 2007 - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Peter Roughley
00320842 - PubMed: Zhytnik et al., 2017 - - - - Estonian - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Lidiia Zhytnik
00320848 - PubMed: Lindahl et al., 2015 - - - - Kurdish - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Katarina Lindahl
00320853 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320856 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320857 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320859 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320861 - PubMed: Zhytnik et al. 2019 de novo variant - - - Ukrainian - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Lidiia Zhytnik
00320872 - PubMed: Lee et al., 2006 - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320873 - PubMed: Venturi et al., 2006 - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320874 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Peter Byers
00320875 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Peter Byers
00320876 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Peter Byers
00320877 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Peter Byers
00320882 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320884 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00320889 - PubMed: Gentile et al., 2013 - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320892 - - - - - - - - 0 - - OI, OI-1, OI-4 - COL1A1 COL1A1 1 1 Sofie Symoens
00320893 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Sofie Symoens
00320898 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320910 - PubMed: Bardai et al.,2016 The technique used was the custom NGS Gene panel. - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Ghalib Bardai, Patrizia Mason
00320916 - PubMed: Zarate et al., 2016 - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320917 - PubMed: Cabral et al., 2005 - - - - - - 0 - - OI, OI-3, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320923 - PubMed: Zhytnik et al. 2019 - - - - Ukrainian - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Lidiia Zhytnik
00320929 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - - - - - - 0 - - OI, OI-1, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320930 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - - - - - - 0 - - OI, OI-3, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320938 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - 0 - - OI, OI-1, OI-4 - COL1A1 COL1A1 1 1 Peter Byers
00320940 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00320943 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Peter Byers
00320945 - - - - - - - - 0 - - OI, OI-3, OI-4 - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00320947 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320951 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - 0 - - OI, OI-1, OI-4 - COL1A1 COL1A1 1 1 Peter Byers
00320958 - PubMed: Zhytnik et al. 2019 de novo variant - - - Ukrainian - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Lidiia Zhytnik
00320959 - PubMed: Zhytnik et al. 2019 de novo variant - - - Ukrainian - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Lidiia Zhytnik
00320962 - PubMed: Lin et al., 2015 The variant in this pateint is not known to affect splicing. - - - Taiwanese - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320966 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320967 - PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication) - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320970 - PubMed: Adur et al., 2013 The patient is described as having moderate OI. - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320976 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320978 - PubMed: Hartikka et al., 2004 - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320993 - PubMed: Ward et al., 2001 - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320994 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Margherita Maioli
00320996 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - - - - - - 0 - - OI, OI-3, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320999 - PubMed: Ward et al., 2001 - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00321011 - PubMed: Marini et al., 2007 (Marini and Cabral, personal communication) - - - - - - 0 - - OI, OI-1, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00321013 - PubMed: Ho Duy et al., 2016 - - - - Vietnamese - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00321014 - - - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Margherita Maioli
00321018 - PubMed: Marini et al., 2007 (Byers, personal communication) Skips exon 15 (minor). - - - - - 0 - - OI, OI-3, OI-4 - COL1A1 COL1A1 1 1 Peter Byers
00321019 - - - - - - Han Chinese - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Xue Bai
00321021 - PubMed: Ho Duy et al., 2016 - - - - Vietnamese - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00321032 - PubMed: Marini et al., 2007 (Marini and Cabral, personal communication) - - - - - - 0 - - OI, OI-1, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00321036 - PubMed: Marini et al., 2007 (Marini and Barnes, personal communication) - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00321045 - PubMed: Marini et al., 2007 (Byers, personal communication) - - - - - - 0 - - OI, OI-3, OI-4 - COL1A1 COL1A1 1 1 Peter Byers
00321048 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - - - - - - 0 - - OI, OI-3, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00321049 - PubMed: Marini et al., 2007 (Marini and Cabral, personal communication) - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00321052 - PubMed: Lindahl et al., 2015 - - - - Swedish - 0 - - OI, OI-4 Osteogenesis imperfecta type 4, subtype B, COL1A1 COL1A1 1 1 Katarina Lindahl
00321056 - PubMed: Rauch et al., 2014 - - - - - - 0 - - OI, OI-4 - COL1A1 COL1A1 1 1 Raymond Dalgleish
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