Disease #05734 (BRKS (syndrome, Bruck (BRKS)))

Official abbreviation BRKS
Name syndrome, Bruck (BRKS)
OMIM ID -
Inheritance -
Individuals reported having this disease 45
Phenotype entries for this disease 44
Associated with 2 genes FKBP10, PLOD2
Associated tissues -
Disease features -
Remarks -


Individuals

45 entries on 1 page. Showing entries 1 - 45.
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00300314 FamPMPatII1/2, Pat7/8 PubMed: van der Slot 2003, PubMed: Breslau-Siderius 1998 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives; previously reported by Breslau-Siderius (individuals 7 and 8 Table 2) F;M yes Kuwait Kurdish - 0 - - BRKS see paper; ... PLOD2 PLOD2 1 1 Johan den Dunnen
00300315 FamDRPatII1/2/4 Pat1/2/3 PubMed: van der Slot 2003, PubMed: Breslau-Siderius 1998 2-generation family, 2 affected sibs (F, 2M), unaffected heterozygous carrier parents/relatives; previously described by Breslau-Siderius 1998 (individuals 1, 2 and 3 Table 2) F;M no Australia - - 0 - - BRKS see paper; ... PLOD2 PLOD2 1 3 Johan den Dunnen
00300316 FamPatII1 PubMed: Ha-Vinh 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - 0 - - BRKS see paper; ..., 1d-congenital contractures with pterygia; severe OI-like osteopenia, multiple fractures PLOD2 PLOD2 1 1 Johan den Dunnen
00320741 - PubMed: Shaheen et al., 2010 The FKBP10 variant in this patient is incorrectly described by Shaheen et al. as c.1023insGGAGAATT and p.Tyr342Glyfs*367. The patient is also homozygous for the COL1A1 variant c.613C>G, though any contribution of this variant to the phenotype is not clear.This patient's family has the ID OI_F10 ({PMID23054245:Shaheen et al., 2012}). - - - Saudi Arabian - 0 - - BRKS Rare instance of Bruck syndrome type 3, COL1A1 COL1A1 1 1 Raymond Dalgleish
00372761 - PubMed: Li 2019, Journal: Li 2019 - - - - Chinese - 0 - - BRKS - PLOD2 PLOD2 1 1 Xiuli Zhao
00373028 Fam2Pat2 PubMed: Caparrós-Martin 2013 younger sister (AN_002112) also harbours the same variants. - - Spain - - 0 - - BRKS - P3H1 P3H1 1 1 Victor L Ruiz-Perez
00373170 Family O PubMed: Schwarze 2013 - - - - - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373173 Case 2 PubMed: Kelley 2011 The parents are consanguineous.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2. - yes - Punjabi - 0 - - BRKS - FKBP10 FKBP10 1 1 Raymond Dalgleish
00373175 - PubMed: Moravej 2015 The parents of the proband are first cousins. - yes Iran - - 0 - - BRKS - FKBP10 FKBP10 1 1 Raymond Dalgleish
00373176 Family P PubMed: Schwarze 2013 - - - Somalia Africa-E - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373177 No. 1004 PubMed: Caparros-Martin 2016 - - - Egypt - - 0 - - BRKS - FKBP10 FKBP10 1 1 Raymond Dalgleish
00373179 Family Q PubMed: Schwarze 2013 - - - - - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373180 Family R PubMed: Schwarze 2013 This patient was previously described by {PMID9129737:McPherson and Clemens 1997}. - - - - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373183 Case 6 PubMed: Kelley 2011 - - - - white - 0 - - BRKS - FKBP10 FKBP10 2 1 Raymond Dalgleish
00373184 Family K PubMed: Schwarze 2013 The three affected individuals in this family have been described previously by {PMID9481655:Breslau-Siderius et al., 1998} and {PMID9927692:Bank et al., 1999}. - - - Kurdish - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373189 Family S PubMed: Schwarze 2013 - - - - - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373193 - PubMed: Setijowati 2011 The parents of the patient are second cousins. - yes Indonesia - - 0 - - BRKS - FKBP10 FKBP10 1 1 Raymond Dalgleish
00373197 Family 1 PubMed: Shaheen 2011 The parents are consanguineous and there is phenotypic variability between the proband and her older sister as well as with affected cousins.; This patients family has the ID OI_F1 ({PMID23054245:Shaheen et al., 2012}). - yes Saudi Arabia - - 0 - - BRKS - FKBP10 FKBP10 1 1 Raymond Dalgleish
00373199 Family 1 PubMed: Zhou 2014 - - - China - - 0 - - BRKS - FKBP10 FKBP10 2 1 Raymond Dalgleish
00373208 Case 1 PubMed: Kelley 2011 The parents are first cousins.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2. - yes Turkey - - 0 - - BRKS - FKBP10 FKBP10 1 1 Raymond Dalgleish
00373209 Case 3 PubMed: Kelley 2011 The parents are consanguineous. There is variable expressivity in the family: the elder sister (Case 4) has a phenotype more consistent with type III OI. The clinical histories of cases 3 and 4 have been reported previously by {PMID16307191:Mokete et al., 2005}.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2. - yes South Africa Venda - 0 - - BRKS - FKBP10 FKBP10 1 1 Raymond Dalgleish
00373210 Case 5 PubMed: Kelley 2011 The clinical history of the patient has been described twice before by {PMID2766569:Viljoen et al., 1989} and by {PMID16307191:Mokete et al., 2005}.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2. - - South Africa - - 0 - - BRKS - FKBP10 FKBP10 2 1 Raymond Dalgleish
00373211 Family 2 PubMed: Shaheen 2011 The parents are first cousins with three noenatal deaths with frcatures and presumed diagnosis of OI. - yes Saudi Arabia - - 0 - - BRKS - FKBP10 FKBP10 1 1 Raymond Dalgleish
00373212 Family 7 PubMed: Caparrós-Martin 2013 proband, older sister (AN_002118) has the phenotype of type III OI. - - Sudan - - 0 - - BRKS - FKBP10 FKBP10 1 1 Victor L Ruiz-Perez
00373213 Family N PubMed: Schwarze 2013 - - - - - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373215 Family T PubMed: Schwarze 2013 - - - - - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373216 Family C PubMed: Schwarze 2013 - - - Samoa Samoa;Europe - 0 - - BRKS - FKBP10 FKBP10 2 1 Peter Byers
00373218 - PubMed: Kaneto 2016 - - - - - - 0 - - BRKS - FKBP10 FKBP10 1 1 Raymond Dalgleish
00373222 P2 PubMed: Mrosk 2018 - - - India - - 0 - - BRKS - FKBP10 FKBP10 1 1 Raymond Dalgleish
00373265 Family A PubMed: Schwarze 2013 - - - Samoa - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373266 Family B PubMed: Schwarze 2013 There is marked phenotypic variability in this family. - - Samoa - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373267 Family D PubMed: Schwarze 2013 - - - Samoa - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373268 Family E PubMed: Schwarze 2013 - - - Samoa - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373269 Family F PubMed: Schwarze 2013 - - - Samoa - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373270 Family G PubMed: Schwarze 2013 - - - Samoa - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373271 Family H PubMed: Schwarze 2013 - - - Samoa - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373272 Family I PubMed: Schwarze 2013 - - - Samoa - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373273 Family J PubMed: Schwarze 2013 - - - Samoa - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373276 - PubMed: Shaheen 2010 - - - Saudi Arabia - - 0 - - BRKS - FKBP10 FKBP10 1 1 Raymond Dalgleish
00373282 Family 1 PubMed: Puig-Hervás 2012 - - - Egypt - - 0 - - BRKS - FKBP10 FKBP10 1 1 Victor L Ruiz-Perez
00373283 Family 2 PubMed: Puig-Hervás 2012 - - - Egypt - - 0 - - BRKS - FKBP10 FKBP10 1 1 Victor L Ruiz-Perez
00373284 Family L PubMed: Schwarze 2013 - - - - - - 0 - - BRKS - FKBP10 FKBP10 1 1 Peter Byers
00373288 P30 PubMed: Mrosk 2018 - - - India - - 0 - - BRKS - FKBP10 FKBP10 1 1 Raymond Dalgleish
00373289 P1 PubMed: Mrosk 2018 - - - India - - 0 - - BRKS - FKBP10 FKBP10 1 1 Raymond Dalgleish
00373293 P31 PubMed: Mrosk 2018 - - - India - - 0 - - BRKS - FKBP10 FKBP10 1 1 Raymond Dalgleish
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