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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Cryopyrin-Associated Periodic Syndromes
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Accession:DOID:9008464 term browser browse the term
Definition:A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.
Synonyms:exact_synonym: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED;   Cryopyrinopathy;   FCAS;   FCU;   Familial Cold Induced Autoinflammatory Syndrome;   PLAID;   cryopyrin-associated periodic syndrome;   cryopyrinopathies;   familial cold urticaria;   familial cold urticarias
 primary_id: MESH:D056587
 alt_id: DOID:0090061;   RDO:0004520
For additional species annotation, visit the Alliance of Genome Resources.


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Cryopyrin-Associated Periodic Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17a interleukin 17A treatment ISO RGD PMID:21637346 RGD:9068438 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:16899778 RGD:8549803 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Mme membrane metallo-endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12928894 NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:22,167,874...22,194,755
Ensembl chr 6:22,167,919...22,194,250
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by OMIM:607115
ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome
ClinVar Annotator: match by term: Familial cold urticaria
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar
CTD
PMID:49161, PMID:447320, PMID:5173311, PMID:11687797, PMID:11992256, PMID:12032915, PMID:12355493, PMID:12522564, PMID:12928894, PMID:14630794, PMID:14872505, PMID:15020601, PMID:15334500, PMID:15593220, PMID:15724022, PMID:15801036, PMID:16081838, PMID:16100350, PMID:16255047, PMID:16802372, PMID:16920754, PMID:17038455, PMID:17178739, PMID:17213252, PMID:17393462, PMID:17509468, PMID:17513575, PMID:18063752, PMID:18080732, PMID:18263599, PMID:18311798, PMID:19319132, PMID:19501000, PMID:20131254, PMID:20159265, PMID:20182451, PMID:20472245, PMID:21058222, PMID:21109514, PMID:21245836, PMID:21356079, PMID:21621776, PMID:21702021, PMID:22128899, PMID:22193915, PMID:22279087, PMID:22403613, PMID:22512814, PMID:22524199, PMID:22529966, PMID:22566169, PMID:22661645, PMID:22843550, PMID:22935299, PMID:23015306, PMID:23421920, PMID:23442610, PMID:23703389, PMID:24033266, PMID:24098386, PMID:24123366, PMID:24135410, PMID:24158955, PMID:24326009, PMID:24365011, PMID:24431285, PMID:24517500, PMID:24649046, PMID:24759409, PMID:24773462, PMID:25038238, PMID:25217959, PMID:25584041, PMID:25586466, PMID:25596455, PMID:25619352, PMID:25730877, PMID:25732894, PMID:25741868, PMID:25766347, PMID:25821352, PMID:25866490, PMID:25979514, PMID:26020059, PMID:26033552, PMID:26178285, PMID:26218404, PMID:26245507, PMID:26273672, PMID:26386126, PMID:26467025, PMID:26531310, PMID:26535712, PMID:26590045, PMID:26848126, PMID:26931528, PMID:27036377, PMID:27060062, PMID:27134254, PMID:27191192, PMID:27692610, PMID:27819323, PMID:27943647, PMID:27994174, PMID:28028683, PMID:28137891, PMID:28185410, PMID:28421071, PMID:28492532, PMID:28501347, PMID:28692792, PMID:28847925, PMID:29047407, PMID:29102545, PMID:29117789, PMID:29148409, PMID:29163488, PMID:29239927, PMID:29322034, PMID:29611406, PMID:29977033, PMID:29988644, PMID:30214525, PMID:30338413, PMID:30431487 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
G Olr1462 olfactory receptor 1462 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532, PMID:29611406 NCBI chr10:45,921,715...45,924,257
Ensembl chr10:45,922,873...45,923,829
JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
JBrowse link
CINCA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME
ClinVar Annotator: match by term: Prieur Griscelli syndrome
ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3
ClinVar
OMIM
PMID:49161, PMID:11687797, PMID:11992256, PMID:12032915, PMID:12355493, PMID:12522564, PMID:14630794, PMID:14872505, PMID:15020601, PMID:16081838, PMID:16255047, PMID:17038455, PMID:17213252, PMID:17393462, PMID:17509468, PMID:18263599, PMID:18311798, PMID:19319132, PMID:19501000, PMID:20159265, PMID:20182451, PMID:21109514, PMID:21245836, PMID:21621776, PMID:22128899, PMID:22193915, PMID:22403613, PMID:22512814, PMID:22524199, PMID:22529966, PMID:22566169, PMID:22661645, PMID:22843550, PMID:22935299, PMID:23015306, PMID:23421920, PMID:24033266, PMID:24098386, PMID:24123366, PMID:24135410, PMID:24158955, PMID:24365011, PMID:24431285, PMID:24517500, PMID:24649046, PMID:24773462, PMID:25038238, PMID:25586466, PMID:25596455, PMID:25741868, PMID:25766347, PMID:25821352, PMID:25979514, PMID:26020059, PMID:26033552, PMID:26178285, PMID:26218404, PMID:26273672, PMID:26386126, PMID:26467025, PMID:26531310, PMID:26535712, PMID:26590045, PMID:26848126, PMID:27036377, PMID:27060062, PMID:27191192, PMID:27819323, PMID:27943647, PMID:27994174, PMID:28028683, PMID:28137891, PMID:28185410, PMID:28421071, PMID:28492532, PMID:28692792, PMID:29102545, PMID:29117789, PMID:29148409, PMID:29239927, PMID:29977033, PMID:30214525, PMID:30311386 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
Cold Hypersensitivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpa1 transient receptor potential cation channel, subfamily A, member 1 IMP associated with Peripheral Nerve Injuries; RGD PMID:21068322 RGD:10043615 NCBI chr 5:3,783,247...3,836,485
Ensembl chr 5:3,783,247...3,836,485
JBrowse link
familial cold autoinflammatory syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:24033266, PMID:24064030, PMID:25741868, PMID:27314497, PMID:27633793, PMID:28492532 NCBI chr 1:64,506,750...64,543,908
Ensembl chr 1:64,506,735...64,534,912
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:49161, PMID:11687797, PMID:12355493, PMID:14872505, PMID:17038455, PMID:17213252, PMID:17393462, PMID:20159265, PMID:22566169, PMID:23421920, PMID:24033266, PMID:24123366, PMID:24135410, PMID:25038238, PMID:25596455, PMID:25741868, PMID:26020059, PMID:26531310, PMID:27994174, PMID:28492532, PMID:28692792 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
familial cold autoinflammatory syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1
ClinVar Annotator: match by OMIM:120100
OMIM
ClinVar
PMID:11687797, PMID:11992256, PMID:12032915, PMID:12522564, PMID:15020601, PMID:16100350, PMID:16255047, PMID:17178739, PMID:17509468, PMID:18263599, PMID:18311798, PMID:19319132, PMID:19501000, PMID:20182451, PMID:20472245, PMID:21109514, PMID:21245836, PMID:21356079, PMID:21621776, PMID:22128899, PMID:22193915, PMID:22403613, PMID:22524199, PMID:22529966, PMID:22843550, PMID:22935299, PMID:23015306, PMID:23442610, PMID:23703389, PMID:24033266, PMID:24098386, PMID:24135410, PMID:24158955, PMID:24365011, PMID:24431285, PMID:24517500, PMID:24649046, PMID:24759409, PMID:24773462, PMID:25586466, PMID:25596455, PMID:25730877, PMID:25741868, PMID:25766347, PMID:25821352, PMID:25979514, PMID:26020059, PMID:26033552, PMID:26178285, PMID:26218404, PMID:26245507, PMID:26273672, PMID:26386126, PMID:26467025, PMID:26531310, PMID:26535712, PMID:26590045, PMID:26848126, PMID:26931528, PMID:27036377, PMID:27060062, PMID:27191192, PMID:27819323, PMID:27943647, PMID:28028683, PMID:28137891, PMID:28185410, PMID:28421071, PMID:28492532, PMID:28692792, PMID:29047407, PMID:29102545, PMID:29117789, PMID:29148409, PMID:29322034, PMID:29977033, PMID:30214525, PMID:30431487 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2
ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO
OMIM
ClinVar
PMID:18230725, PMID:21360512, PMID:21538323, PMID:24033266, PMID:24064030, PMID:25064839, PMID:25741868, PMID:26386126, PMID:27314497, PMID:27633793, PMID:28492532, PMID:30788684 NCBI chr 1:64,506,750...64,543,908
Ensembl chr 1:64,506,735...64,534,912
JBrowse link
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3
ClinVar Annotator: match by OMIM:614468
OMIM
ClinVar
PMID:22236196, PMID:25741868, PMID:28492532, PMID:29590070, PMID:29921932, PMID:30273710, PMID:30344948, PMID:30619256 NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
JBrowse link
familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 OMIM
ClinVar
PMID:25385754, PMID:27974463, PMID:28492532, PMID:29778503 NCBI chr 6:22,167,874...22,194,755
Ensembl chr 6:22,167,919...22,194,250
JBrowse link
Muckle-Wells syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:22146561 RGD:6906895 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: UDA syndrome
ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME
ClinVar Annotator: match by OMIM:191900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11687797, PMID:11992256, PMID:12032915, PMID:12522564, PMID:15020601, PMID:16100350, PMID:16255047, PMID:17178739, PMID:17509468, PMID:18263599, PMID:18311798, PMID:19319132, PMID:19501000, PMID:20182451, PMID:20472245, PMID:21109514, PMID:21245836, PMID:21356079, PMID:21621776, PMID:22128899, PMID:22193915, PMID:22403613, PMID:22524199, PMID:22529966, PMID:22843550, PMID:22935299, PMID:23015306, PMID:23442610, PMID:23703389, PMID:24033266, PMID:24098386, PMID:24135410, PMID:24158955, PMID:24365011, PMID:24431285, PMID:24517500, PMID:24649046, PMID:24759409, PMID:24773462, PMID:25586466, PMID:25596455, PMID:25730877, PMID:25741868, PMID:25766347, PMID:25821352, PMID:25979514, PMID:26020059, PMID:26033552, PMID:26178285, PMID:26218404, PMID:26245507, PMID:26273672, PMID:26386126, PMID:26467025, PMID:26531310, PMID:26535712, PMID:26590045, PMID:26848126, PMID:26931528, PMID:27036377, PMID:27060062, PMID:27191192, PMID:27819323, PMID:27943647, PMID:28028683, PMID:28137891, PMID:28185410, PMID:28421071, PMID:28492532, PMID:28692792, PMID:29047407, PMID:29102545, PMID:29117789, PMID:29148409, PMID:29322034, PMID:29977033, PMID:30214525, PMID:30431487 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Cryopyrin-Associated Periodic Syndromes 9
        CINCA syndrome 1
        Cold Hypersensitivity 1
        Muckle-Wells syndrome 2
        familial cold autoinflammatory syndrome + 4
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          skin disease 2749
            Genetic Skin Diseases 887
              Hereditary Autoinflammatory Diseases 105
                Cryopyrin-Associated Periodic Syndromes 9
                  CINCA syndrome 1
                  Cold Hypersensitivity 1
                  Muckle-Wells syndrome 2
                  familial cold autoinflammatory syndrome + 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.