Disease #01484 (osteoporosis, OMIM:166710)

Official abbreviation -
Name osteoporosis
OMIM ID 166710
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 36
Phenotype entries for this disease 6
Associated with 6 genes CALCR, COL1A1, COL1A2, LRP5, PDLIM4, VDR
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

36 entries on 1 page. Showing entries 1 - 36.
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00107694 - - - - - - - - - - - osteoporosis Idiopathic osteoporosis LRP5 LRP5 1 1 Frans Cremers
00107695 - - - - - - - - - - - osteoporosis Idiopathic osteoporosis LRP5 LRP5 1 1 Frans Cremers
00107704 - - - - - - - - - - - osteoporosis primary osteoporosis LRP5 LRP5 1 1 Frans Cremers
00107706 - - - - - - - - - - - osteoporosis idiopathic osteoporosis LRP5 LRP5 1 1 Frans Cremers
00107711 - - - - - - - - - - - osteoporosis primary osteoporosis LRP5 LRP5 1 1 Frans Cremers
00320487 - - - - - - - - - - - osteoporosis - COL1A1 COL1A1 1 1 Javier Garcia-Planells
00320695 - Nicholls et al., 1990 {Localnicholls_et_al_1990.pdf:View abstract} - - - - - - - - - osteoporosis - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320729 - - - - - - white - - - - osteoporosis - COL1A1 COL1A1 1 1 Javier Garcia-Planells
00320740 - - Family studies showed this change to be present in affected and unaffected individuals. - - - - - - - - osteoporosis - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00321000 - - - - - - white - - - - 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. - - - - - - - - osteoporosis - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322658 - PubMed: Lampart et al., 2018 - - - - - - - - - osteoporosis - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322988 - - Familial cosegregation of the mutation and disease - - - white - - - - osteoporosis - COL1A2 COL1A2 1 1 Javier Garcia-Planells
00323071 - - - - - - - - - - - OI, OI1, osteoporosis - COL1A2 COL1A2 1 1 Isabel Mandy Nesbitt
00323072 - - - - - - - - - - - OI, OI1, 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. - - - white - - - - osteoporosis - COL1A2 COL1A2 1 1 Javier Garcia-Planells
00323378 - - de novo mutation - - - white - - - - 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 - - - - osteoporosis - COL1A2 COL1A2 1 1 Raymond Dalgleish
00323454 - PubMed: Dawson et al., 1999 The technique used was ribonuclease A analysis (RNaseA). - - - - - - - - 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 - - - - osteoporosis - COL1A2 COL1A2 1 1 Raymond Dalgleish
00323652 - PubMed: Spotila et al., 1991 - - - - - - - - - osteoporosis - COL1A2 COL1A2 1 1 Raymond Dalgleish
00323791 - - - - - - white - - - - osteoporosis - COL1A2 COL1A2 1 1 Javier Garcia-Planells
00324044 - E. Mornet, personal communication The technique used was the custom NGS Gene panel. - - - - - - - - osteoporosis - COL1A2 COL1A2 1 1 Etienne Mornet
00372601 P1 PubMed: Fahiminiya 2014 patient has a younger brother who harbours the same PLS3 variant - - - - - - - - osteoporosis - BMP1, PLS3 BMP1, PLS3 2 1 Raymond Dalgleish
00372610 - PubMed: Laine 2015 - - - - - - - - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372611 Family 1 PubMed: van Dijk 2013 A report of a boy from this family was subsequently reported by {PMID27477003:van de Laarschot and Zillikens, 2017} - - - - - - - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372613 Family 3 PubMed: van Dijk 2013 - - - - - - - - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372614 Family 4 PubMed: van Dijk 2013 - - - - - - - - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372616 - PubMed: Lv 2017 The patient is male and his mother is presumed to be a carrier for the deletion. She has osteopaenia, but no bone fractures. - - China Han - - - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372618 - PubMed: Constantini 2018 The proband's mother does not harbour the variant. - - Greece - - - - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372619 Patient 2 PubMed: Nishi 2016 Patient 3 is the brother of patient 2. - - Finland - - - - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372620 P3 (Family 2) PubMed: Fahiminiya 2014 The patient's dizygotic twin brother also harbours the same variant. - - - - - - - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372621 Family 2 PubMed: van Dijk 2013 - - - - - - - - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00372622 Family 5 PubMed: van Dijk 2013 - - - - - - - - - osteoporosis - PLS3 PLS3 1 1 Raymond Dalgleish
00388259 II:1 PubMed: Datta et al., 2021 Journal: Datta et al., 2021 The daughter of the index case also harbours the same COL1A1 sequence variant. The mother and elder brother of the index case both have osteoporosis, F - - white - - - - osteoporosis - COL1A1, COL1A2 COL1A1 1 4 Raymond Dalgleish
00398661 UK case PubMed: Gregson 2020 - F no United Kingdom (Great Britain) White - - - - osteoporosis Bone pain (HP:0002653), Myopia (HP:0000545), Polycystic Ovary Syndrome 1 (OMIM:184700), Bipolar affective disorder (HP:0007302), Psoriasiform dermatitis (HP:0003765), Long foot (HP:0001833), Mandibular prognathia (HP:0000303) - SMAD9 1 1 Litika Vermani
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