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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
Shapiro S, Makris M
Br J Haematol 2019 Mar;184(5):712-720. Epub 2018 Dec 28 doi: 10.1111/bjh.15745. PMID: 30592034
Radzikowska E
Adv Respir Med 2017;85(5):277-289. Epub 2017 Oct 30 doi: 10.5603/ARM.a2017.0046. PMID: 29083024
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
Rawal S, Sharma B, Dabla S, Singh J, Goyal S
J Assoc Physicians India 2016 May;64(5):69-71S. PMID: 27735155
Pareja JA, Caminero AB
Curr Pain Headache Rep 2006 Aug;10(4):302-5. doi: 10.1007/s11916-006-0036-9. PMID: 16834946

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
Wehl G, Rauchenzauner M
Curr Pediatr Rev 2018;14(3):196-203. doi: 10.2174/1573396314666180515113941. PMID: 29766816
Rosenberg J, Galen BT
Curr Pain Headache Rep 2017 Jul;21(7):33. doi: 10.1007/s11916-017-0635-7. PMID: 28551737
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
Mahlab-Guri K, Asher I, Allweis T, Diment J, Sthoeger ZM, Mavor E
Isr Med Assoc J 2015 Aug;17(8):476-80. PMID: 26394488

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
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
Minakova E, Chu A
Pediatr Ann 2017 Nov 1;46(11):e409-e414. doi: 10.3928/19382359-20171020-01. PMID: 29131920
Hadavi S, Noyce AJ, Leslie RD, Giovannoni G
Pract Neurol 2011 Oct;11(5):272-82. doi: 10.1136/practneurol-2011-000071. PMID: 21921002
Tsimihodimos V, Elisaf M
Curr Opin Lipidol 2011 Aug;22(4):262-9. doi: 10.1097/MOL.0b013e328345ebb0. PMID: 21464714

Recent systematic reviews

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
de Oliveira MM, Conti C, Prado GF
Cochrane Database Syst Rev 2016 May 6;2016(5):CD006685. doi: 10.1002/14651858.CD006685.pub4. PMID: 27153153Free PMC Article

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