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Rare Disorder

MedGen UID:
146261
Concept ID:
C0678236
Disease or Syndrome
Synonyms: Disease, Rare; Rare Disease; Rare Diseases

Definition

A disease that affects fewer than 200,000 people in the United States. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRare Disorder

Professional guidelines

PubMed

Rossor T, Yeh EA, Khakoo Y, Angelini P, Hemingway C, Irani SR, Schleiermacher G, Santosh P, Lotze T, Dale RC, Deiva K, Hero B, Klein A, de Alarcon P, Gorman MP, Mitchell WG, Lim M; OMS Study Group
Neurol Neuroimmunol Neuroinflamm 2022 May;9(3) Epub 2022 Mar 8 doi: 10.1212/NXI.0000000000001153. PMID: 35260471Free PMC Article
Iolascon A, Bianchi P, Andolfo I, Russo R, Barcellini W, Fermo E, Toldi G, Ghirardello S, Rees D, Van Wijk R, Kattamis A, Gallagher PG, Roy N, Taher A, Mohty R, Kulozik A, De Franceschi L, Gambale A, De Montalembert M, Forni GL, Harteveld CL, Prchal J; SWG of red cell and iron of EHA and EuroBloodNet
Am J Hematol 2021 Dec 1;96(12):1666-1678. Epub 2021 Sep 23 doi: 10.1002/ajh.26340. PMID: 34467556Free PMC Article
Young J, Xu C, Papadakis GE, Acierno JS, Maione L, Hietamäki J, Raivio T, Pitteloud N
Endocr Rev 2019 Apr 1;40(2):669-710. doi: 10.1210/er.2018-00116. PMID: 30698671

Recent clinical studies

Etiology

Gelders F, Struyve M, van Malenstein H
Acta Gastroenterol Belg 2023 Jul-Sep;86(3):483-485. doi: 10.51821/86.3.11733. PMID: 37814564
Lane LC, Wood CL, Cheetham T
Arch Dis Child 2023 Apr;108(4):276-281. Epub 2022 Jul 13 doi: 10.1136/archdischild-2022-323905. PMID: 35831126Free PMC Article
Radzikowska E
Adv Respir Med 2017;85(5):277-289. Epub 2017 Oct 30 doi: 10.5603/ARM.a2017.0046. PMID: 29083024
Karlsen TH, Folseraas T, Thorburn D, Vesterhus M
J Hepatol 2017 Dec;67(6):1298-1323. Epub 2017 Aug 10 doi: 10.1016/j.jhep.2017.07.022. PMID: 28802875
Srivastava A, Brewer AK, Mauser-Bunschoten EP, Key NS, Kitchen S, Llinas A, Ludlam CA, Mahlangu JN, Mulder K, Poon MC, Street A; Treatment Guidelines Working Group on Behalf of The World Federation Of Hemophilia
Haemophilia 2013 Jan;19(1):e1-47. Epub 2012 Jul 6 doi: 10.1111/j.1365-2516.2012.02909.x. PMID: 22776238

Diagnosis

Georgescu T, Ionescu O, Toader OD, Bacalbasa N, Pop LG
J Med Life 2022 Apr;15(4):587-588. doi: 10.25122/jml-2021-0397. PMID: 35646168Free PMC Article
Schraepen C, Donkersloot P, Duyvendak W, Plazier M, Put E, Roosen G, Vanvolsem S, Wissels M, Bamps S
Br J Neurosurg 2022 Apr;36(2):171-174. Epub 2020 Dec 2 doi: 10.1080/02688697.2020.1836323. PMID: 33263426
Arif T, Fatima R, Sami M
Acta Dermatovenerol Alp Pannonica Adriat 2020 Dec;29(4):193-199. PMID: 33348939
Pareja JA, Caminero AB
Curr Pain Headache Rep 2006 Aug;10(4):302-5. doi: 10.1007/s11916-006-0036-9. PMID: 16834946
Avanzini G
Ann N Y Acad Sci 2003 Nov;999:95-102. doi: 10.1196/annals.1284.008. PMID: 14681120

Therapy

Lane LC, Wood CL, Cheetham T
Arch Dis Child 2023 Apr;108(4):276-281. Epub 2022 Jul 13 doi: 10.1136/archdischild-2022-323905. PMID: 35831126Free PMC Article
Rosenberg J, Galen BT
Curr Pain Headache Rep 2017 Jul;21(7):33. doi: 10.1007/s11916-017-0635-7. PMID: 28551737
Pike M
Handb Clin Neurol 2013;112:1209-11. doi: 10.1016/B978-0-444-52910-7.00042-8. PMID: 23622330
Srivastava A, Brewer AK, Mauser-Bunschoten EP, Key NS, Kitchen S, Llinas A, Ludlam CA, Mahlangu JN, Mulder K, Poon MC, Street A; Treatment Guidelines Working Group on Behalf of The World Federation Of Hemophilia
Haemophilia 2013 Jan;19(1):e1-47. Epub 2012 Jul 6 doi: 10.1111/j.1365-2516.2012.02909.x. PMID: 22776238
Pareja JA, Caminero AB
Curr Pain Headache Rep 2006 Aug;10(4):302-5. doi: 10.1007/s11916-006-0036-9. PMID: 16834946

Prognosis

Crisafulli S, Sultana J, Fontana A, Salvo F, Messina S, Trifirò G
Orphanet J Rare Dis 2020 Jun 5;15(1):141. doi: 10.1186/s13023-020-01430-8. PMID: 32503598Free PMC Article
Betterle C, Presotto F, Furmaniak J
J Endocrinol Invest 2019 Dec;42(12):1407-1433. Epub 2019 Jul 18 doi: 10.1007/s40618-019-01079-6. PMID: 31321757
Boyter E
JAAPA 2019 May;32(5):30-35. doi: 10.1097/01.JAA.0000554732.85914.91. PMID: 30969189
Dorsey ER, Sherer T, Okun MS, Bloem BR
J Parkinsons Dis 2018;8(s1):S3-S8. doi: 10.3233/JPD-181474. PMID: 30584159Free PMC Article
Clarke BL
Endocrinol Metab Clin North Am 2018 Dec;47(4):771-782. Epub 2018 Oct 11 doi: 10.1016/j.ecl.2018.07.004. PMID: 30390812

Clinical prediction guides

Savarino E, Bhatia S, Roman S, Sifrim D, Tack J, Thompson SK, Gyawali CP
Nat Rev Dis Primers 2022 May 5;8(1):28. doi: 10.1038/s41572-022-00356-8. PMID: 35513420
Tauber M, Hoybye C
Lancet Diabetes Endocrinol 2021 Apr;9(4):235-246. Epub 2021 Feb 26 doi: 10.1016/S2213-8587(21)00002-4. PMID: 33647242
Downes TJ, Cheruvu MS, Karunaratne TB, De Giorgio R, Farmer AD
J Clin Gastroenterol 2018 Jul;52(6):477-489. doi: 10.1097/MCG.0000000000001047. PMID: 29877952
Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J
Nat Rev Endocrinol 2015 Sep;11(9):547-64. Epub 2015 Jul 21 doi: 10.1038/nrendo.2015.112. PMID: 26194704
Hadavi S, Noyce AJ, Leslie RD, Giovannoni G
Pract Neurol 2011 Oct;11(5):272-82. doi: 10.1136/practneurol-2011-000071. PMID: 21921002

Recent systematic reviews

Leonart LP, Fachi MM, Böger B, Silva MRD, Szpak R, Lombardi NF, Pedroso MLA, Pontarolo R
Ann Pharmacother 2023 Mar;57(3):267-282. Epub 2022 Jul 11 doi: 10.1177/10600280221108443. PMID: 35815393
Haber R, Chebl JA, El Gemayel M, Salloum A
Int J Dermatol 2020 Dec;59(12):1458-1465. Epub 2020 Jun 18 doi: 10.1111/ijd.14963. PMID: 32557651
Crisafulli S, Sultana J, Fontana A, Salvo F, Messina S, Trifirò G
Orphanet J Rare Dis 2020 Jun 5;15(1):141. doi: 10.1186/s13023-020-01430-8. PMID: 32503598Free PMC Article
Wehl G, Rauchenzauner M
Curr Pediatr Rev 2018;14(3):196-203. doi: 10.2174/1573396314666180515113941. PMID: 29766816
von der Lippe C, Diesen PS, Feragen KB
Mol Genet Genomic Med 2017 Nov;5(6):758-773. Epub 2017 Jul 23 doi: 10.1002/mgg3.315. PMID: 29178638Free PMC Article

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