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Cryopyrin-Associated Periodic Syndromes - Ontology Report - Rat Genome Database

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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;   FCU;   PLAID;   cryopyrin-associated periodic syndrome;   cryopyrinopathies;   cryopyrinopathy;   familial cold urticaria;   familial cold urticarias
 alt_id: DOID:0090061
 xref: MESH:D056587;   MONDO:0016168

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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 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:16899778 RGD:8549803 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Mme membrane metallo-endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12928894 NCBI chr 2:149,806,826...149,957,381
Ensembl chr 2:147,722,086...147,803,792 		JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248 		JBrowse link
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Familial cold urticaria ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria 		CTD
ClinVar		 PMID:49161 PMID:5173311 PMID:9536098 PMID:11687797 PMID:11992256 More... NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Olr1433 olfactory receptor 1433 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr10:43,042,427...43,046,293
Ensembl chr10:43,037,857...43,046,701 		JBrowse link
G Or11l3 olfactory receptor family 11 subfamily L member 3 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr10:43,007,633...43,008,604
Ensembl chr10:43,004,087...43,013,122 		JBrowse link
G Or13g1 olfactory receptor family 13 subfamily G member 1 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr 1:139,864,790...139,865,713
Ensembl chr 1:139,863,413...139,873,029 		JBrowse link
G Or14p1 olfactory receptor family 14 subfamily P member 1 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr17:47,738...48,685
Ensembl chr17:47,738...48,685 		JBrowse link
G Or2b11 olfactory receptor family 2 subfamily B member 11 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 PMID:29611406 NCBI chr10:44,358,397...44,359,353
Ensembl chr10:44,357,668...44,362,937 		JBrowse link
G Or2g25 olfactory receptor family 2 subfamily G member 25 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr20:810,880...811,833
Ensembl chr20:807,707...815,510 		JBrowse link
G Or2y1h olfactory receptor family 2 subfamily Y member 1H ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr10:33,609,511...33,610,446
Ensembl chr10:33,604,013...33,612,206 		JBrowse link
G Or6f1 olfactory receptor family 6 subfamily F member 1 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr 1:139,888,779...139,889,705
Ensembl chr 1:139,887,387...139,902,727 		JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome 		CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr19:62,456,196...62,592,684
Ensembl chr19:45,547,416...45,683,930 		JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO Hyperekplexia (Startle disease), SLC6A5-related OMIA PMID:6524730 PMID:21420493 PMID:30847549 PMID:33769611 PMID:38003185 NCBI chr 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010 		JBrowse link
G Trim58 tripartite motif-containing 58 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr10:43,022,933...43,038,984
Ensembl chr10:43,022,996...43,034,476 		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
ISS 		ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 | ClinVar Annotator: match by term: Chronic Infantile Neurological Cutaneous Articular syndrome | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar Annotator: match by term: Prieur Griscelli syndrome
OMIM:607115 		OMIM
ClinVar
MouseDO		 PMID:49161 PMID:5173311 PMID:9536098 PMID:11687797 PMID:11992256 More... NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811 		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 5:9,163,060...9,217,325
Ensembl chr 5:4,379,999...4,433,570 		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: COLD-INDUCED AUTOINFLAMMATORY SYNDROME, FAMILIAL | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:24033266 PMID:24064030 PMID:25741868 PMID:27314497 PMID:27633793 More... NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: COLD-INDUCED AUTOINFLAMMATORY SYNDROME, FAMILIAL | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:25741868 NCBI chr19:62,456,196...62,592,684
Ensembl chr19:45,547,416...45,683,930 		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
ISS 		ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1
OMIM:120100 		OMIM
ClinVar
MouseDO		 PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 More... NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myadm myeloid-associated differentiation marker ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 1:74,779,616...74,796,752
Ensembl chr 1:65,864,173...65,874,035 		JBrowse link
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 | ClinVar Annotator: match by term: NLRP12-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More... NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934 		JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 1:74,748,272...74,777,611
Ensembl chr 1:65,832,855...65,859,384 		JBrowse link
G Rapgefl1 Rap guanine nucleotide exchange factor like 1 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar NCBI chr10:83,793,711...83,810,373
Ensembl chr10:83,793,694...83,810,371 		JBrowse link
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101 		JBrowse link
G Cmip c-Maf-inducing protein ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr19:45,304,597...45,510,653
Ensembl chr19:45,304,031...45,508,709 		JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr19:45,207,783...45,265,066
Ensembl chr19:45,207,184...45,254,107 		JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr19:45,036,013...45,046,770
Ensembl chr19:45,036,011...45,046,792 		JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 ClinVar PMID:28492532 NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532 		JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO ClinVar Annotator: match by term: FAMILIAL ATYPICAL COLD URTICARIA | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22236196 PMID:24033266 More... NCBI chr19:62,456,196...62,592,684
Ensembl chr19:45,547,416...45,683,930 		JBrowse link
familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432 		JBrowse link
G Memo1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561 		JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO
ISS 		ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4
OMIM:616115 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248 		JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268 		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 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome OMIM
ClinVar		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More... NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    syndrome 11406
      Cryopyrin-Associated Periodic Syndromes 32
        CINCA syndrome 1
        Cold Hypersensitivity 1
        Muckle-Wells syndrome 2
        familial cold autoinflammatory syndrome + 18
Path 2
Term Annotations click to browse term
  disease 19143
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          sensory system disease 7373
            skin disease 4308
              Genetic Skin Diseases 1869
                Hereditary Autoinflammatory Diseases 364
                  Cryopyrin-Associated Periodic Syndromes 32
                    CINCA syndrome 1
                    Cold Hypersensitivity 1
                    Muckle-Wells syndrome 2
                    familial cold autoinflammatory syndrome + 18
paths to the root