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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;   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 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 15489
    syndrome 5228
      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 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        sensory system disease 4593
          skin disease 2460
            Genetic Skin Diseases 760
              Hereditary Autoinflammatory Diseases 94
                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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