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
Accession: DOID:9008464
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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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
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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
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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
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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
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Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Familial cold urticaria ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar CTD
PMID:49161 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: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:28492532 PMID:28501347 PMID:28692792 PMID:28847925 PMID:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29163488 PMID:29239927 PMID:29322034 PMID:29611406 PMID:29922587 PMID:29977033 PMID:29988644 PMID:30214525 PMID:30338413 PMID:30407166 PMID:30431487 PMID:30808881
NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
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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
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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
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Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome ClinVar Annotator: match by term: Prieur Griscelli 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:15593220 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:29159471 PMID:29239927 PMID:29922587 PMID:29977033 PMID:30214525 PMID:30407166 PMID:30808881
NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
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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
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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
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Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome
ClinVar
PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 PMID:15593220 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:26467025 PMID:26531310 PMID:27994174 PMID:28492532 PMID:28692792 PMID:29159471 PMID:29922587 PMID:30407166 PMID:30808881
NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
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Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1 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:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 PMID:12522564 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:20159265 PMID:20182451 PMID:20472245 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:21702021 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:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24365011 PMID:24431285 PMID:24517500 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25584041 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: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:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29163488 PMID:29322034 PMID:29922587 PMID:29977033 PMID:29988644 PMID:30214525 PMID:30338413 PMID:30407166 PMID:30431487 PMID:30808881
NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
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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
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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
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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
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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
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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
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