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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
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 9:23,144,402...23,147,889
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 3:7,111,567...7,127,451
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 2:147,686,913...147,803,808
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 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:9536098 PMID:11687797 PMID:11992256 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
JBrowse link
G Olr1462 olfactory receptor 1462 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 Plcg2 phospholipase C, gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO Hyperekplexia (Startle disease) OMIA PMID:6524730 PMID:21420493 PMID:30847549 PMID:33769611 NCBI chr 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010
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: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3
ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome
ClinVar
OMIM
PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More... NCBI chr10:44,326,770...44,353,814
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 5:4,379,999...4,433,243
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: 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: Familial cold autoinflammatory syndrome ClinVar PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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: 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 More... NCBI chr10:44,326,770...44,353,814
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 1:65,864,180...65,874,701
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 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18230725 PMID:21360512 PMID:21538323 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 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
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:9536098 PMID:17576681 PMID:22236196 PMID:24033266 PMID:25640679 More... NCBI chr19:45,547,416...45,683,930
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 Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 OMIM
ClinVar
PMID:25385754 PMID:25741868 PMID:27974463 PMID:28492532 PMID:29778503 NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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 3:7,111,567...7,127,451
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: 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 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Cryopyrin-Associated Periodic Syndromes 12
        CINCA syndrome 1
        Cold Hypersensitivity 1
        Muckle-Wells syndrome 2
        familial cold autoinflammatory syndrome + 6
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            Genetic Skin Diseases 1051
              Hereditary Autoinflammatory Diseases 117
                Cryopyrin-Associated Periodic Syndromes 12
                  CINCA syndrome 1
                  Cold Hypersensitivity 1
                  Muckle-Wells syndrome 2
                  familial cold autoinflammatory syndrome + 6
paths to the root