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OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO(BMND16)

MedGen UID:
811520
•Concept ID:
C3714945
•
Finding
Synonyms: BMND16; Bone mineral density quantitative trait locus 16
 
Gene (location): WNT1 (12q13.12)
 
OMIM®: 615221

Professional guidelines

PubMed

Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know.
Busse E, Lee B, Nagamani SCS
Curr Osteoporos Rep 2024 Jun;22(3):308-317. Epub 2024 Apr 11 doi: 10.1007/s11914-024-00870-6. PMID: 38600318
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Rao PV, Lu X, Pattee P, Turner M, Nandgaonkar S, Paturi BT, Roberts CT Jr, Nagalla SR
J Assoc Physicians India 2005 Jun;53:521-6. PMID: 16121806
Periodontal risk assessment, diagnosis and treatment planning.
Pihlstrom BL
Periodontol 2000 2001;25:37-58. doi: 10.1034/j.1600-0757.2001.22250104.x. PMID: 11155181

Recent clinical studies

Etiology

Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.
Mancini M, Chapurlat R, Isidor B, Desjonqueres M, Couture G, Guggenbuhl P, Coutant R, El Chehadeh S, Fradin M, Frazier A, Goldenberg A, Guillot P, Koumakis E, Mehsen-Cêtre N, Rossi M, Schaefer É, Sigaudy S, Porquet-Bordes V, Fontanges É, Letard P, Edouard T, Javier RM, Cohen-Solal M, Funck-Brentano T, Collet C
Calcif Tissue Int 2024 Nov;115(5):591-598. Epub 2024 Sep 24 doi: 10.1007/s00223-024-01288-z. PMID: 39316135
Bone fragility and osteoporosis in children and young adults.
Formosa MM, Christou MA, Mäkitie O
J Endocrinol Invest 2024 Feb;47(2):285-298. Epub 2023 Sep 5 doi: 10.1007/s40618-023-02179-0. PMID: 37668887Free PMC Article
Application of Panoramic Radiography in the Detection of Osteopenia and Osteoporosis-Current State of the Art.
Mupparapu M, Akintoye SO
Curr Osteoporos Rep 2023 Aug;21(4):354-359. Epub 2023 Jun 29 doi: 10.1007/s11914-023-00807-5. PMID: 37382808
The Polygenic and Monogenic Basis of Paediatric Fractures.
Ghatan S, Costantini A, Li R, De Bruin C, Appelman-Dijkstra NM, Winter EM, Oei L, Medina-Gomez C
Curr Osteoporos Rep 2021 Oct;19(5):481-493. Epub 2021 May 4 doi: 10.1007/s11914-021-00680-0. PMID: 33945105Free PMC Article
Hereditary Disorders of Cardiovascular Calcification.
Rutsch F, Buers I, Nitschke Y
Arterioscler Thromb Vasc Biol 2021 Jan;41(1):35-47. Epub 2020 Nov 12 doi: 10.1161/ATVBAHA.120.315577. PMID: 33176451

Diagnosis

Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B, Labella R, Cuesta-Dominguez A, Luo N, De Angelis J, Mosialou I, Lin CS, Beck D, Lata S, Shyu PT, McMahon DJ, Guo E, Hagen J, Chung WK, Shane E, Cohen A, Kousteni S
Sci Transl Med 2024 Oct 16;16(769):eadj0085. doi: 10.1126/scitranslmed.adj0085. PMID: 39413162
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.
Mancini M, Chapurlat R, Isidor B, Desjonqueres M, Couture G, Guggenbuhl P, Coutant R, El Chehadeh S, Fradin M, Frazier A, Goldenberg A, Guillot P, Koumakis E, Mehsen-Cêtre N, Rossi M, Schaefer É, Sigaudy S, Porquet-Bordes V, Fontanges É, Letard P, Edouard T, Javier RM, Cohen-Solal M, Funck-Brentano T, Collet C
Calcif Tissue Int 2024 Nov;115(5):591-598. Epub 2024 Sep 24 doi: 10.1007/s00223-024-01288-z. PMID: 39316135
Bone fragility and osteoporosis in children and young adults.
Formosa MM, Christou MA, Mäkitie O
J Endocrinol Invest 2024 Feb;47(2):285-298. Epub 2023 Sep 5 doi: 10.1007/s40618-023-02179-0. PMID: 37668887Free PMC Article
Application of Panoramic Radiography in the Detection of Osteopenia and Osteoporosis-Current State of the Art.
Mupparapu M, Akintoye SO
Curr Osteoporos Rep 2023 Aug;21(4):354-359. Epub 2023 Jun 29 doi: 10.1007/s11914-023-00807-5. PMID: 37382808
Hereditary Disorders of Cardiovascular Calcification.
Rutsch F, Buers I, Nitschke Y
Arterioscler Thromb Vasc Biol 2021 Jan;41(1):35-47. Epub 2020 Nov 12 doi: 10.1161/ATVBAHA.120.315577. PMID: 33176451

Therapy

Iron-enriched diet contributes to early onset of osteoporotic phenotype in a mouse model of hereditary hemochromatosis.
Simão M, Camacho A, Ostertag A, Cohen-Solal M, Pinto IJ, Porto G, Hang Korng E, Cancela ML
PLoS One 2018;13(11):e0207441. Epub 2018 Nov 14 doi: 10.1371/journal.pone.0207441. PMID: 30427936Free PMC Article
Vascular calcification in rheumatoid arthritis: prevalence, pathophysiological aspects and potential targets.
Paccou J, Brazier M, Mentaverri R, Kamel S, Fardellone P, Massy ZA
Atherosclerosis 2012 Oct;224(2):283-90. Epub 2012 May 8 doi: 10.1016/j.atherosclerosis.2012.04.008. PMID: 22703866

Prognosis

Application of Panoramic Radiography in the Detection of Osteopenia and Osteoporosis-Current State of the Art.
Mupparapu M, Akintoye SO
Curr Osteoporos Rep 2023 Aug;21(4):354-359. Epub 2023 Jun 29 doi: 10.1007/s11914-023-00807-5. PMID: 37382808
Altered MicroRNA Profile in Osteoporosis Caused by Impaired WNT Signaling.
Mäkitie RE, Hackl M, Niinimäki R, Kakko S, Grillari J, Mäkitie O
J Clin Endocrinol Metab 2018 May 1;103(5):1985-1996. doi: 10.1210/jc.2017-02585. PMID: 29506076
Severe Thoraco-lumbar Kyphoscoliosis Associated with Osteoporosis in Siblings - Case study.
Szumera E, Jasiewicz B, Potaczek T, Sułko J, Tęsiorowski M
Ortop Traumatol Rehabil 2015 Mar-Apr;17(2):189-95. doi: 10.5604/15093492.1157095. PMID: 26248763
Vascular calcification in rheumatoid arthritis: prevalence, pathophysiological aspects and potential targets.
Paccou J, Brazier M, Mentaverri R, Kamel S, Fardellone P, Massy ZA
Atherosclerosis 2012 Oct;224(2):283-90. Epub 2012 May 8 doi: 10.1016/j.atherosclerosis.2012.04.008. PMID: 22703866
Periodontal risk assessment, diagnosis and treatment planning.
Pihlstrom BL
Periodontol 2000 2001;25:37-58. doi: 10.1034/j.1600-0757.2001.22250104.x. PMID: 11155181

Clinical prediction guides

Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.
Mancini M, Chapurlat R, Isidor B, Desjonqueres M, Couture G, Guggenbuhl P, Coutant R, El Chehadeh S, Fradin M, Frazier A, Goldenberg A, Guillot P, Koumakis E, Mehsen-Cêtre N, Rossi M, Schaefer É, Sigaudy S, Porquet-Bordes V, Fontanges É, Letard P, Edouard T, Javier RM, Cohen-Solal M, Funck-Brentano T, Collet C
Calcif Tissue Int 2024 Nov;115(5):591-598. Epub 2024 Sep 24 doi: 10.1007/s00223-024-01288-z. PMID: 39316135
Bone fragility and osteoporosis in children and young adults.
Formosa MM, Christou MA, Mäkitie O
J Endocrinol Invest 2024 Feb;47(2):285-298. Epub 2023 Sep 5 doi: 10.1007/s40618-023-02179-0. PMID: 37668887Free PMC Article
Application of Panoramic Radiography in the Detection of Osteopenia and Osteoporosis-Current State of the Art.
Mupparapu M, Akintoye SO
Curr Osteoporos Rep 2023 Aug;21(4):354-359. Epub 2023 Jun 29 doi: 10.1007/s11914-023-00807-5. PMID: 37382808
Iron-enriched diet contributes to early onset of osteoporotic phenotype in a mouse model of hereditary hemochromatosis.
Simão M, Camacho A, Ostertag A, Cohen-Solal M, Pinto IJ, Porto G, Hang Korng E, Cancela ML
PLoS One 2018;13(11):e0207441. Epub 2018 Nov 14 doi: 10.1371/journal.pone.0207441. PMID: 30427936Free PMC Article
Periodontal risk assessment, diagnosis and treatment planning.
Pihlstrom BL
Periodontol 2000 2001;25:37-58. doi: 10.1034/j.1600-0757.2001.22250104.x. PMID: 11155181

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