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Cryopyrin associated periodic syndrome

MedGen UID:
412215
Concept ID:
C2316212
Disease or Syndrome
Synonyms: Cryopyrin associated Periodic Syndromes; Cryopyrin Associated Periodic Syndromes; Cryopyrin-associated Periodic Syndrome; Cryopyrin-Associated Periodic Syndrome; Cryopyrin-associated Periodic Syndromes; Cryopyrin-Associated Periodic Syndromes; Cryopyrinopathies; Cryopyrinopathy; Periodic Syndrome, Cryopyrin-associated; Periodic Syndrome, Cryopyrin-Associated; Periodic Syndromes, Cryopyrin-associated; Periodic Syndromes, Cryopyrin-Associated; Syndrome, Cryopyrin-associated Periodic; Syndrome, Cryopyrin-Associated Periodic; Syndromes, Cryopyrin-associated Periodic; Syndromes, Cryopyrin-Associated Periodic
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Cryopyrin associated periodic syndrome (430079001)
 
Orphanet: ORPHA208650

Definition

A group of autoinflammatory syndromes caused by mutations in the NLRP3 gene. Signs and symptoms include rash, fever, headache, joint pain, conjunctivitis, and weakness. The symptoms may exacerbate with exposure to cold weather. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCryopyrin associated periodic syndrome
Follow this link to review classifications for Cryopyrin associated periodic syndrome in Orphanet.

Recent clinical studies

Etiology

Kuemmerle-Deschner JB, Hofer F, Endres T, Kortus-Goetze B, Blank N, Weißbarth-Riedel E, Schuetz C, Kallinich T, Krause K, Rietschel C, Horneff G, Benseler SM
Rheumatology (Oxford) 2016 Apr;55(4):689-96. Epub 2015 Dec 14 doi: 10.1093/rheumatology/kev416. PMID: 26667214
Levy R, Gérard L, Kuemmerle-Deschner J, Lachmann HJ, Koné-Paut I, Cantarini L, Woo P, Naselli A, Bader-Meunier B, Insalaco A, Al-Mayouf SM, Ozen S, Hofer M, Frenkel J, Modesto C, Nikishina I, Schwarz T, Martino S, Meini A, Quartier P, Martini A, Ruperto N, Neven B, Gattorno M; for PRINTO and Eurofever.
Ann Rheum Dis 2015 Nov;74(11):2043-9. Epub 2014 Jul 18 doi: 10.1136/annrheumdis-2013-204991. PMID: 25038238
Kanariou M, Tantou S, Varela I, Raptaki M, Petropoulou C, Nikas I, Valari M
Pediatrics 2014 Nov;134(5):e1468-73. doi: 10.1542/peds.2013-3185. PMID: 25349319
Alejandre N, Ruiz-Palacios A, García-Aparicio AM, Blanco-Kelly F, Bermúdez S, Fernández-Sanz G, Romero FI, Aróstegui JI, Ayuso C, Jiménez-Alfaro I, Herrero-Beaumont G, Sánchez-Pernaute O
Rheumatology (Oxford) 2014 Jun;53(6):1095-9. doi: 10.1093/rheumatology/ket486. PMID: 24501247
Serrano M, Ormazábal A, Antón J, Aróstegui JI, García-Cazorla A
Pediatr Neurol 2009 Dec;41(6):448-50. doi: 10.1016/j.pediatrneurol.2009.06.008. PMID: 19931168

Diagnosis

Zhou Q, Aksentijevich I, Wood GM, Walts AD, Hoffmann P, Remmers EF, Kastner DL, Ombrello AK
Arthritis Rheumatol 2015 Sep;67(9):2482-6. doi: 10.1002/art.39190. PMID: 25988971Free PMC Article
Kanariou M, Tantou S, Varela I, Raptaki M, Petropoulou C, Nikas I, Valari M
Pediatrics 2014 Nov;134(5):e1468-73. doi: 10.1542/peds.2013-3185. PMID: 25349319
Enríquez R, Sirvent AE, Padilla S, Noguera-Pons R, Andrada E, Ardoy F, Millán I, Amorós F
Ren Fail 2013;35(5):738-41. Epub 2013 May 7 doi: 10.3109/0886022X.2013.790300. PMID: 23650909
Aoyama K, Amano H, Takaoka Y, Nishikomori R, Ishikawa O
Acta Derm Venereol 2012 Jul;92(4):395-8. doi: 10.2340/00015555-1322. PMID: 22377911
Serrano M, Ormazábal A, Antón J, Aróstegui JI, García-Cazorla A
Pediatr Neurol 2009 Dec;41(6):448-50. doi: 10.1016/j.pediatrneurol.2009.06.008. PMID: 19931168

Therapy

Schwarzbach CJ, Schmitt WH, Szabo K, Bäzner H, Hennerici MG, Blahak C
Neurology 2016 Jan 19;86(3):241-4. Epub 2015 Dec 18 doi: 10.1212/WNL.0000000000002300. PMID: 26683645
Kuemmerle-Deschner JB, Hofer F, Endres T, Kortus-Goetze B, Blank N, Weißbarth-Riedel E, Schuetz C, Kallinich T, Krause K, Rietschel C, Horneff G, Benseler SM
Rheumatology (Oxford) 2016 Apr;55(4):689-96. Epub 2015 Dec 14 doi: 10.1093/rheumatology/kev416. PMID: 26667214
Koné-Paut I, Galeotti C
Expert Rev Clin Immunol 2015;11(10):1083-92. Epub 2015 Aug 27 doi: 10.1586/1744666X.2015.1077702. PMID: 26312542
Kanariou M, Tantou S, Varela I, Raptaki M, Petropoulou C, Nikas I, Valari M
Pediatrics 2014 Nov;134(5):e1468-73. doi: 10.1542/peds.2013-3185. PMID: 25349319
Alejandre N, Ruiz-Palacios A, García-Aparicio AM, Blanco-Kelly F, Bermúdez S, Fernández-Sanz G, Romero FI, Aróstegui JI, Ayuso C, Jiménez-Alfaro I, Herrero-Beaumont G, Sánchez-Pernaute O
Rheumatology (Oxford) 2014 Jun;53(6):1095-9. doi: 10.1093/rheumatology/ket486. PMID: 24501247

Prognosis

Schwarzbach CJ, Schmitt WH, Szabo K, Bäzner H, Hennerici MG, Blahak C
Neurology 2016 Jan 19;86(3):241-4. Epub 2015 Dec 18 doi: 10.1212/WNL.0000000000002300. PMID: 26683645
Levy R, Gérard L, Kuemmerle-Deschner J, Lachmann HJ, Koné-Paut I, Cantarini L, Woo P, Naselli A, Bader-Meunier B, Insalaco A, Al-Mayouf SM, Ozen S, Hofer M, Frenkel J, Modesto C, Nikishina I, Schwarz T, Martino S, Meini A, Quartier P, Martini A, Ruperto N, Neven B, Gattorno M; for PRINTO and Eurofever.
Ann Rheum Dis 2015 Nov;74(11):2043-9. Epub 2014 Jul 18 doi: 10.1136/annrheumdis-2013-204991. PMID: 25038238
Kanariou M, Tantou S, Varela I, Raptaki M, Petropoulou C, Nikas I, Valari M
Pediatrics 2014 Nov;134(5):e1468-73. doi: 10.1542/peds.2013-3185. PMID: 25349319
Caorsi R, Lepore L, Zulian F, Alessio M, Stabile A, Insalaco A, Finetti M, Battagliese A, Martini G, Bibalo C, Martini A, Gattorno M
Arthritis Res Ther 2013 Feb 26;15(1):R33. doi: 10.1186/ar4184. PMID: 23442610Free PMC Article
Serrano M, Ormazábal A, Antón J, Aróstegui JI, García-Cazorla A
Pediatr Neurol 2009 Dec;41(6):448-50. doi: 10.1016/j.pediatrneurol.2009.06.008. PMID: 19931168

Clinical prediction guides

Schwarzbach CJ, Schmitt WH, Szabo K, Bäzner H, Hennerici MG, Blahak C
Neurology 2016 Jan 19;86(3):241-4. Epub 2015 Dec 18 doi: 10.1212/WNL.0000000000002300. PMID: 26683645
Kuemmerle-Deschner JB, Hofer F, Endres T, Kortus-Goetze B, Blank N, Weißbarth-Riedel E, Schuetz C, Kallinich T, Krause K, Rietschel C, Horneff G, Benseler SM
Rheumatology (Oxford) 2016 Apr;55(4):689-96. Epub 2015 Dec 14 doi: 10.1093/rheumatology/kev416. PMID: 26667214
Levy R, Gérard L, Kuemmerle-Deschner J, Lachmann HJ, Koné-Paut I, Cantarini L, Woo P, Naselli A, Bader-Meunier B, Insalaco A, Al-Mayouf SM, Ozen S, Hofer M, Frenkel J, Modesto C, Nikishina I, Schwarz T, Martino S, Meini A, Quartier P, Martini A, Ruperto N, Neven B, Gattorno M; for PRINTO and Eurofever.
Ann Rheum Dis 2015 Nov;74(11):2043-9. Epub 2014 Jul 18 doi: 10.1136/annrheumdis-2013-204991. PMID: 25038238
Imagawa T, Nishikomori R, Takada H, Takeshita S, Patel N, Kim D, Lheritier K, Heike T, Hara T, Yokota S
Clin Exp Rheumatol 2013 Mar-Apr;31(2):302-9. Epub 2013 Feb 1 PMID: 23380020
Ohnishi H, Teramoto T, Iwata H, Kato Z, Kimura T, Kubota K, Nishikomori R, Kaneko H, Seishima M, Kondo N
J Clin Immunol 2012 Apr;32(2):221-9. Epub 2011 Dec 24 doi: 10.1007/s10875-011-9629-0. PMID: 22193915

Recent systematic reviews

Yu JR, Leslie KS
Curr Allergy Asthma Rep 2011 Feb;11(1):12-20. doi: 10.1007/s11882-010-0160-9. PMID: 21104172Free PMC Article

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