PedAM
Pediatric Disease Annotations & Medicines
| cryopyrin-associated periodic syndrome | ||||
| Disease ID | 1405 |
|---|---|
| Disease | cryopyrin-associated periodic syndrome |
| Definition | A group of autoinflammatory syndromes caused by mutations in the NLRP3 gene. Signs and symptoms include rash, fever, headache, joint pain, conjunctivitis, and weakness. The symptoms may exacerbate with exposure to cold weather. |
| Synonym | cryopyrin associated periodic syndrome cryopyrin associated periodic syndrome (disorder) cryopyrin associated periodic syndromes cryopyrin-associated periodic syndromes cryopyrin-associated periodic syndromes [disease/finding] cryopyrinopathies cryopyrinopathy periodic syndrome, cryopyrin-associated periodic syndromes, cryopyrin-associated syndrome, cryopyrin-associated periodic syndromes, cryopyrin-associated periodic |
| Orphanet | |
| UMLS | C2316212 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1405 |
|---|---|
| Disease | cryopyrin-associated periodic syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1405 |
|---|---|
| Disease | cryopyrin-associated periodic syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:5) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908147 | 17213252 | 114548 | NLRP3 | umls:C2316212 | BeFree | The V198M mutation in the CIAS1 gene was identified in one patient with typical BD but no symptoms of CAPS. | 0.132757768 | 2007 | NLRP3 | 1 | 247424041 | G | A,C |
| rs121908150 | 24501247 | 114548 | NLRP3 | umls:C2316212 | BeFree | The genetic analysis detected the heterozygous germline p.R260W mutation in the NLRP3 gene in the three women, confirming the diagnosis of CAPS. | 0.132757768 | 2014 | NLRP3 | 1 | 247424227 | C | T |
| rs121908153 | 24952504 | 834 | CASP1 | umls:C2316212 | BeFree | Recombinant oligomeric protein particles composed of the adaptor ASC or the p.D303N mutant form of NLRP3 associated with cryopyrin-associated periodic syndromes (CAPS) stimulated further activation of caspase-1 extracellularly, as well as intracellularly after phagocytosis by surrounding macrophages. | 0.001628651 | 2014 | NLRP3 | 1 | 247424356 | G | A,C |
| rs121908153 | 24952504 | 114548 | NLRP3 | umls:C2316212 | BeFree | Recombinant oligomeric protein particles composed of the adaptor ASC or the p.D303N mutant form of NLRP3 associated with cryopyrin-associated periodic syndromes (CAPS) stimulated further activation of caspase-1 extracellularly, as well as intracellularly after phagocytosis by surrounding macrophages. | 0.132757768 | 2014 | NLRP3 | 1 | 247424356 | G | A,C |
| rs180177494 | 20506209 | 114548 | NLRP3 | umls:C2316212 | BeFree | Two adult siblings with atypical cryopyrin-associated periodic syndrome due to a novel M299V mutation in NLRP3. | 0.132757768 | 2010 | NLRP3 | 1 | 247424344 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |