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Not genetically inherited

MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Synonym: not genetically inherited
 
Orphanet: ORPHA409941

Definition

clinical entity without genetic inheritance. [from ORDO]

Professional guidelines

PubMed

Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases.
Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A
Eur Heart J 2021 Apr 21;42(16):1554-1568. doi: 10.1093/eurheartj/ehab072. PMID: 33825853Free PMC Article
Health Supervision for Children With Neurofibromatosis Type 1.
Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR; COUNCIL ON GENETICS; AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS
Pediatrics 2019 May;143(5) doi: 10.1542/peds.2019-0660. PMID: 31010905
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article

Recent clinical studies

Etiology

Rare Hereditary Gynecological Cancer Syndromes.
Watanabe T, Soeda S, Endo Y, Okabe C, Sato T, Kamo N, Ueda M, Kojima M, Furukawa S, Nishigori H, Takahashi T, Fujimori K
Int J Mol Sci 2022 Jan 29;23(3) doi: 10.3390/ijms23031563. PMID: 35163487Free PMC Article
Genetics of Anxiety Disorders.
Meier SM, Deckert J
Curr Psychiatry Rep 2019 Mar 2;21(3):16. doi: 10.1007/s11920-019-1002-7. PMID: 30826936
Rare Neurodegenerative Diseases: Clinical and Genetic Update.
Matilla-Dueñas A, Corral-Juan M, Rodríguez-Palmero Seuma A, Vilas D, Ispierto L, Morais S, Sequeiros J, Alonso I, Volpini V, Serrano-Munuera C, Pintos-Morell G, Álvarez R, Sánchez I
Adv Exp Med Biol 2017;1031:443-496. doi: 10.1007/978-3-319-67144-4_25. PMID: 29214587
Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM
JAMA 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. PMID: 25326635Free PMC Article
Epigenetics: the link between nature and nurture.
Tammen SA, Friso S, Choi SW
Mol Aspects Med 2013 Jul-Aug;34(4):753-64. Epub 2012 Aug 10 doi: 10.1016/j.mam.2012.07.018. PMID: 22906839Free PMC Article

Diagnosis

Rare Hereditary Gynecological Cancer Syndromes.
Watanabe T, Soeda S, Endo Y, Okabe C, Sato T, Kamo N, Ueda M, Kojima M, Furukawa S, Nishigori H, Takahashi T, Fujimori K
Int J Mol Sci 2022 Jan 29;23(3) doi: 10.3390/ijms23031563. PMID: 35163487Free PMC Article
Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification.
Dapas M, Dunaif A
Endocr Rev 2022 Nov 25;43(6):927-965. doi: 10.1210/endrev/bnac001. PMID: 35026001Free PMC Article
Malignant hyperthermia: a review.
Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K
Orphanet J Rare Dis 2015 Aug 4;10:93. doi: 10.1186/s13023-015-0310-1. PMID: 26238698Free PMC Article
Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM
JAMA 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. PMID: 25326635Free PMC Article
Genes and mutations causing retinitis pigmentosa.
Daiger SP, Sullivan LS, Bowne SJ
Clin Genet 2013 Aug;84(2):132-41. Epub 2013 Jun 19 doi: 10.1111/cge.12203. PMID: 23701314Free PMC Article

Therapy

Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges.
Timsit J, Ciangura C, Dubois-Laforgue D, Saint-Martin C, Bellanne-Chantelot C
Front Endocrinol (Lausanne) 2021;12:802423. Epub 2022 Jan 5 doi: 10.3389/fendo.2021.802423. PMID: 35069449Free PMC Article
Therapy Approaches for Stargardt Disease.
Piotter E, McClements ME, MacLaren RE
Biomolecules 2021 Aug 9;11(8) doi: 10.3390/biom11081179. PMID: 34439845Free PMC Article
Recent Advancements in the Diagnosis and Treatment of Leukodystrophies.
Bradbury AM, Ream MA
Semin Pediatr Neurol 2021 Apr;37:100876. Epub 2021 Feb 10 doi: 10.1016/j.spen.2021.100876. PMID: 33892849
Hydroxyurea (hydroxycarbamide) for sickle cell disease.
Nevitt SJ, Jones AP, Howard J
Cochrane Database Syst Rev 2017 Apr 20;4(4):CD002202. doi: 10.1002/14651858.CD002202.pub2. PMID: 28426137Free PMC Article
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.
Pareyson D, Marchesi C
Lancet Neurol 2009 Jul;8(7):654-67. doi: 10.1016/S1474-4422(09)70110-3. PMID: 19539237

Prognosis

Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up.
Touraine R, Hauet Q, Harzallah I, Baruteau AE
Arch Pediatr 2022 Dec;29(5S):5S3-5S7. doi: 10.1016/S0929-693X(22)00283-4. PMID: 36585068
Genetic risk, incident gastric cancer, and healthy lifestyle: a meta-analysis of genome-wide association studies and prospective cohort study.
Jin G, Lv J, Yang M, Wang M, Zhu M, Wang T, Yan C, Yu C, Ding Y, Li G, Ren C, Ni J, Zhang R, Guo Y, Bian Z, Zheng Y, Zhang N, Jiang Y, Chen J, Wang Y, Xu D, Zheng H, Yang L, Chen Y, Walters R, Millwood IY, Dai J, Ma H, Chen K, Chen Z, Hu Z, Wei Q, Shen H, Li L
Lancet Oncol 2020 Oct;21(10):1378-1386. doi: 10.1016/S1470-2045(20)30460-5. PMID: 33002439
Rare Neurodegenerative Diseases: Clinical and Genetic Update.
Matilla-Dueñas A, Corral-Juan M, Rodríguez-Palmero Seuma A, Vilas D, Ispierto L, Morais S, Sequeiros J, Alonso I, Volpini V, Serrano-Munuera C, Pintos-Morell G, Álvarez R, Sánchez I
Adv Exp Med Biol 2017;1031:443-496. doi: 10.1007/978-3-319-67144-4_25. PMID: 29214587
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
van Paassen BW, van der Kooi AJ, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M
Orphanet J Rare Dis 2014 Mar 19;9:38. doi: 10.1186/1750-1172-9-38. PMID: 24646194Free PMC Article
Waardenburg syndrome.
Read AP, Newton VE
J Med Genet 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. PMID: 9279758Free PMC Article

Clinical prediction guides

Excessive Trabeculation of the Left Ventricle: JACC: Cardiovascular Imaging Expert Panel Paper.
Petersen SE, Jensen B, Aung N, Friedrich MG, McMahon CJ, Mohiddin SA, Pignatelli RH, Ricci F, Anderson RH, Bluemke DA
JACC Cardiovasc Imaging 2023 Mar;16(3):408-425. Epub 2023 Feb 8 doi: 10.1016/j.jcmg.2022.12.026. PMID: 36764891Free PMC Article
Rare Neurodegenerative Diseases: Clinical and Genetic Update.
Matilla-Dueñas A, Corral-Juan M, Rodríguez-Palmero Seuma A, Vilas D, Ispierto L, Morais S, Sequeiros J, Alonso I, Volpini V, Serrano-Munuera C, Pintos-Morell G, Álvarez R, Sánchez I
Adv Exp Med Biol 2017;1031:443-496. doi: 10.1007/978-3-319-67144-4_25. PMID: 29214587
Arrhythmogenic Cardiomyopathy.
Corrado D, Basso C, Judge DP
Circ Res 2017 Sep 15;121(7):784-802. doi: 10.1161/CIRCRESAHA.117.309345. PMID: 28912183
Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM
JAMA 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. PMID: 25326635Free PMC Article
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article

Recent systematic reviews

Dietary interventions for phenylketonuria.
Jameson E, Remmington T
Cochrane Database Syst Rev 2020 Jul 16;7(7):CD001304. doi: 10.1002/14651858.CD001304.pub3. PMID: 32672365Free PMC Article
Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta-Analysis.
Chiasakul T, De Jesus E, Tong J, Chen Y, Crowther M, Garcia D, Chai-Adisaksopha C, Messé SR, Cuker A
J Am Heart Assoc 2019 Oct;8(19):e012877. Epub 2019 Sep 24 doi: 10.1161/JAHA.119.012877. PMID: 31549567Free PMC Article
Hydroxyurea (hydroxycarbamide) for sickle cell disease.
Nevitt SJ, Jones AP, Howard J
Cochrane Database Syst Rev 2017 Apr 20;4(4):CD002202. doi: 10.1002/14651858.CD002202.pub2. PMID: 28426137Free PMC Article
Interaction of lifestyle, behaviour or systemic diseases with dental caries and periodontal diseases: consensus report of group 2 of the joint EFP/ORCA workshop on the boundaries between caries and periodontal diseases.
Chapple IL, Bouchard P, Cagetti MG, Campus G, Carra MC, Cocco F, Nibali L, Hujoel P, Laine ML, Lingstrom P, Manton DJ, Montero E, Pitts N, Rangé H, Schlueter N, Teughels W, Twetman S, Van Loveren C, Van der Weijden F, Vieira AR, Schulte AG
J Clin Periodontol 2017 Mar;44 Suppl 18:S39-S51. doi: 10.1111/jcpe.12685. PMID: 28266114
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet)
J Inherit Metab Dis 2017 Mar;40(2):171-176. Epub 2016 Nov 17 doi: 10.1007/s10545-016-9990-5. PMID: 27858262Free PMC Article

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