Disease #01484 (osteoporosis, OMIM:166710)

Official abbreviation -
Name osteoporosis
OMIM ID 166710
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 34
Phenotype entries for this disease 5
Associated with 6 genes CALCR, COL1A1, COL1A2, LRP5, PDLIM4, VDR
Associated tissues -
Disease features -
Remarks -


Individuals

34 entries on 1 page. Showing entries 1 - 34.
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00107694 - - - - - - - - 0 - - osteoporosis Idiopathic osteoporosis LRP5 LRP5 1 1 Frans Cremers
00107695 - - - - - - - - 0 - - osteoporosis Idiopathic osteoporosis LRP5 LRP5 1 1 Frans Cremers
00107704 - - - - - - - - 0 - - osteoporosis primary osteoporosis LRP5 LRP5 1 1 Frans Cremers
00107706 - - - - - - - - 0 - - osteoporosis idiopathic osteoporosis LRP5 LRP5 1 1 Frans Cremers
00107711 - - - - - - - - 0 - - osteoporosis primary osteoporosis LRP5 LRP5 1 1 Frans Cremers
00320487 - - - - - - - - 0 - - osteoporosis - COL1A1 COL1A1 1 1 Javier Garcia-Planells
00320695 - Nicholls et al., 1990 {Localnicholls_et_al_1990.pdf:View abstract} - - - - - - 0 - - osteoporosis - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320729 - - - - - - Caucasian - 0 - - osteoporosis - COL1A1 COL1A1 1 1 Javier Garcia-Planells
00320740 - - Family studies showed this change to be present in affected and unaffected individuals. - - - - - 0 - - osteoporosis - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00321000 - - - - - - Caucasian - 0 - - osteoporosis - COL1A1 COL1A1 1 1 Javier Garcia-Planells
00322649 - {ECTS2008:0034:Cundy et al., 2008} This mutation is found in a brother and sister who inherited it from their father. The disorder is described as being characterised by high bone mass, a mineralization defect and tendon calcification. - - - - - 0 - - osteoporosis - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322658 - PubMed: Lampart et al., 2018 - - - - - - 0 - - osteoporosis - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322988 - - Familial cosegregation of the mutation and disease - - - Caucasian - 0 - - osteoporosis - COL1A2 COL1A2 1 1 Javier Garcia-Planells
00323071 - - - - - - - - 0 - - OI, OI-1, osteoporosis - COL1A2 COL1A2 1 1 Isabel Mandy Nesbitt
00323072 - - - - - - - - 0 - - OI, OI-1, osteoporosis - COL1A2 COL1A2 1 1 Isabel Mandy Nesbitt
00323129 - - The variant detected in this patient appears to be a moderately frequent polymorphism which is recorded in dbSNP. Consequently, it is probably not the disease-causing mutation. - - - Caucasian - 0 - - osteoporosis - COL1A2 COL1A2 1 1 Javier Garcia-Planells
00323378 - - de novo mutation - - - Caucasian - 0 - - osteoporosis - COL1A2 COL1A2 1 1 Javier Garcia-Planells
00323430 - PubMed: Styrkarsdottir et al., 2016 This variant was discovered in a GWA study at the hip and spine and there may be a founder effect in Iceland.The technique used was whole genome sequencing. - - - Icelandic - 0 - - osteoporosis - COL1A2 COL1A2 1 1 Raymond Dalgleish
00323454 - PubMed: Dawson et al., 1999 The technique used was ribonuclease A analysis (RNaseA). - - - - - 0 - - osteoporosis - COL1A2 COL1A2 1 1 Raymond Dalgleish
00323588 - PubMed: Styrkarsdottir et al., 2016 This variant was discovered in a GWA study at the hip and spine and there may be a founder effect in Iceland.The technique used was whole genome sequencing. - - - Icelandic - 0 - - osteoporosis - COL1A2 COL1A2 1 1 Raymond Dalgleish
00323652 - PubMed: Spotila et al., 1991 - - - - - - 0 - - osteoporosis - COL1A2 COL1A2 1 1 Raymond Dalgleish
00323791 - - - - - - Caucasian - 0 - - osteoporosis - COL1A2 COL1A2 1 1 Javier Garcia-Planells
00324044 - E. Mornet, personal communication The technique used was the custom NGS Gene panel. - - - - - 0 - - osteoporosis - COL1A2 COL1A2 1 1 Etienne Mornet
00372601 - PubMed: Fahiminiya 2014 The patient has a younger brother who harbours the same PLS3 variant. Their mother has been confirmed as being heterozygous for that variant. In addition, all three are heterozygous for the BMP1 variant. Although that variant is assessed as being deleterious, it does not account for the osteoporosis in the brothers. - - - - - 0 - - osteoporosis - BMP1, PLS3 BMP1, PLS3 2 1 Raymond Dalgleish
00372610 - PubMed: Laine et al., 2015 The variant is incorrectly reported by the authors as c.73-24T>A. The intronic sequence variant creates a new splice acceptor site resulting in a frameshift. - - - - - 0 - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372611 - PubMed: van Dijk et al., 2013 A report of a boy from this family was subsequently reported by {PMID27477003:van de Laarschot and Zillikens, 2017} - - - - - 0 - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372613 - PubMed: van Dijk et al., 2013 - - - - - - 0 - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372614 - PubMed: van Dijk et al., 2013 - - - - - - 0 - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372616 - PubMed: Lv et al., 2017 The patient is male and his mother is presumed to be a carrier for the deletion. She has osteopaenia, but no bone fractures. - - - Han Chinese - 0 - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372618 - PubMed: Constantini et al., 2018 The proband's mother does not harbour the variant. The variant is incorrectly described as NM_005032:c.1096_1100del in the published account. - - - Greek - 0 - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372619 - PubMed: Nishi et al., 2016 Patient 3 is the brother of patient 2. - - - Finnish - 0 - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372620 - PubMed: Fahiminiya et al., 2014 The patient's dizygotic twin brother also harbours the same variant. - - - - - 0 - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372621 - PubMed: van Dijk et al., 2013 - - - - - - 0 - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372622 - PubMed: van Dijk et al., 2013 - - - - - - 0 - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
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