ONTOLOGY REPORT - ANNOTATIONS


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;   CAPS3;   CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3;   Cryopyrinopathies;   Cryopyrinopathy;   FCAS;   FCU;   Familial Cold Induced Autoinflammatory Syndrome;   Familial Cold Urticaria;   PLAID;   cryopyrin-associated periodic syndrome;   familial cold urticarias
 primary_id: MESH:D056587
 alt_id: DOID:0090061;   RDO:0004520
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Cryopyrin-Associated Periodic Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:9068438
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:8549803
G Mme membrane metallo-endopeptidase JBrowse link 2 153,799,203 153,880,910 RGD:11554173
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 6 22,167,874 22,194,755 RGD:11554173
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:8554872
RGD:11554173
G Plcg2 phospholipase C, gamma 2 JBrowse link 19 50,039,410 50,173,543 RGD:11554173
CINCA syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:8554872
RGD:7240710
Cold Hypersensitivity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpa1 transient receptor potential cation channel, subfamily A, member 1 JBrowse link 5 3,783,247 3,836,485 RGD:10043615
familial cold autoinflammatory syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp12 NLR family, pyrin domain containing 12 JBrowse link 1 64,506,750 64,543,908 RGD:8554872
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:8554872
familial cold autoinflammatory syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:7240710
RGD:8554872
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp12 NLR family, pyrin domain containing 12 JBrowse link 1 64,506,750 64,543,908 RGD:7240710
RGD:8554872
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcg2 phospholipase C, gamma 2 JBrowse link 19 50,039,410 50,173,543 RGD:7240710
RGD:8554872
familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 6 22,167,874 22,194,755 RGD:8554872
RGD:7240710
Muckle-Wells syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:6906895
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Cryopyrin-Associated Periodic Syndromes 8
        CINCA syndrome 1
        Cold Hypersensitivity 1
        Muckle-Wells syndrome 2
        familial cold autoinflammatory syndrome + 4
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Genetic Skin Diseases 580
              Hereditary Autoinflammatory Diseases 97
                Cryopyrin-Associated Periodic Syndromes 8
                  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.