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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

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
Boyter E
JAAPA 2019 May;32(5):30-35. doi: 10.1097/01.JAA.0000554732.85914.91. PMID: 30969189
Radzikowska E
Adv Respir Med 2017;85(5):277-289. Epub 2017 Oct 30 doi: 10.5603/ARM.a2017.0046. PMID: 29083024
Smith CC, Bevelaqua AC
Phys Med Rehabil Clin N Am 2014 May;25(2):265-77. Epub 2014 Mar 18 doi: 10.1016/j.pmr.2014.01.001. PMID: 24787332
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
Arif T, Fatima R, Sami M
Acta Dermatovenerol Alp Pannonica Adriat 2020 Dec;29(4):193-199. PMID: 33348939
Maloney MA, Kun SS, Keens TG, Perez IA
Expert Rev Respir Med 2018 Apr;12(4):283-292. Epub 2018 Feb 28 doi: 10.1080/17476348.2018.1445970. PMID: 29486608
McCarty EC, Tsairis P, Warren RF
Clin Orthop Relat Res 1999 Nov;(368):37-43. PMID: 10613151
Frykberg RG
Clin Podiatr Med Surg 1987 Apr;4(2):351-9. PMID: 2952245

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
Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA
Pediatr Neurol 2019 Aug;97:38-42. Epub 2019 Mar 27 doi: 10.1016/j.pediatrneurol.2019.03.017. PMID: 31147226Free PMC Article
Rosenberg J, Galen BT
Curr Pain Headache Rep 2017 Jul;21(7):33. doi: 10.1007/s11916-017-0635-7. PMID: 28551737
Smith CC, Bevelaqua AC
Phys Med Rehabil Clin N Am 2014 May;25(2):265-77. Epub 2014 Mar 18 doi: 10.1016/j.pmr.2014.01.001. PMID: 24787332
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

Prognosis

Garelli S, Dalla Costa M, Sabbadin C, Barollo S, Rubin B, Scarpa R, Masiero S, Fierabracci A, Bizzarri C, Crinò A, Cappa M, Valenzise M, Meloni A, De Bellis AM, Giordano C, Presotto F, Perniola R, Capalbo D, Salerno MC, Stigliano A, Radetti G, Camozzi V, Greggio NA, Bogazzi F, Chiodini I, Pagotto U, Black SK, Chen S, Rees Smith B, Furmaniak J, Weber G, Pigliaru F, De Sanctis L, Scaroni C, Betterle C
J Endocrinol Invest 2021 Nov;44(11):2493-2510. Epub 2021 May 18 doi: 10.1007/s40618-021-01585-6. PMID: 34003463Free PMC Article
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

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
Santiago MB, Melo BS
Curr Rheumatol Rev 2022;18(3):186-194. doi: 10.2174/1573397118666220325110737. PMID: 35339184
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
Vignes S, Baran R
Orphanet J Rare Dis 2017 Feb 27;12(1):42. doi: 10.1186/s13023-017-0594-4. PMID: 28241848Free PMC Article
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

Pugh D, O'Sullivan ED, Duthie FA, Masson P, Kavanagh D
Cochrane Database Syst Rev 2021 Mar 23;3(3):CD012862. doi: 10.1002/14651858.CD012862.pub2. PMID: 33783815Free PMC Article
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
Day E, Bentham PW, Callaghan R, Kuruvilla T, George S
Cochrane Database Syst Rev 2013 Jul 1;2013(7):CD004033. doi: 10.1002/14651858.CD004033.pub3. PMID: 23818100Free PMC Article

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