PedAM
Pediatric Disease Annotations & Medicines
| cinca syndrome | ||||
| Disease ID | 456 |
|---|---|
| Disease | cinca syndrome |
| Definition | A congenital autoinflammatory disorder that presents within a few days of birth and is characterized by a clinical triad of skin rash, chronic meningitis, and joint pain with recurrent fever and inflammation. |
| Synonym | caps3 chronic infantile neurologic, cutaneous, and articular syndrome chronic infantile neurological cutaneous and articular syndrome chronic infantile neurological, cutaneous and articular syndrome chronic infantile neurological, cutaneous and articular syndrome (disorder) chronic infantile neurological, cutaneous, and articular syndrome chronic neurologic cutaneous and articular syndrome chronic neurologic, cutaneous, and articular syndrome chronic, infantile, neurological, cutaneous, articular syndrome cinca cinca - chronic infantile neurological, cutaneous and articular syndrome cinca/nomid cryopyrin-associated periodic syndrome 3 infantile onset multisystem inflammatory disease iomid iomid syndrome iomid syndromes multisystem inflammatory disease, neonatal onset multisystem inflammatory disease, neonatal-onset neonatal onset multisystem inflammatory disease neonatal-onset multisystem inflammatory disease nomid nomid - neonatal onset multisystem inflammatory disease prieur griscelli syndrome prieur-griscelli syndrome prieur-griscelli syndromes syndrome, iomid syndrome, prieur-griscelli syndromes, iomid syndromes, prieur-griscelli |
| Orphanet | |
| OMIM | |
| UMLS | C0409818 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:33) 4210 | MEFV | DISEASES 51081 | MRPS7 | DISEASES 29108 | PYCARD | DISEASES 1401 | CRP | DISEASES 3569 | IL6 | DISEASES 3557 | IL1RN | DISEASES 26525 | IL36RN | DISEASES 9663 | LPIN2 | DISEASES 3553 | IL1B | DISEASES 3606 | IL18 | DISEASES 64127 | NOD2 | DISEASES 3556 | IL1RAP | DISEASES 10892 | MALT1 | DISEASES 91662 | NLRP12 | DISEASES 1668 | DEFA3 | DISEASES 201475 | RAB12 | DISEASES 27445 | PCLO | DISEASES 114548 | NLRP3 | DISEASES 1508 | CTSB | DISEASES 79092 | CARD14 | DISEASES 1822 | ATN1 | DISEASES 58484 | NLRC4 | DISEASES 6283 | S100A12 | DISEASES 6280 | S100A9 | DISEASES 64170 | CARD9 | DISEASES 7133 | TNFRSF1B | DISEASES 81704 | DOCK8 | DISEASES 55655 | NLRP2 | DISEASES 834 | CASP1 | DISEASES 54475 | NLE1 | DISEASES 5027 | P2RX7 | DISEASES 9051 | PSTPIP1 | DISEASES 22861 | NLRP1 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) NLRP3 | 1q44 |
| Disease ID | 456 |
|---|---|
| Disease | cinca syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:44) HP:0000407 | Sensorineural hearing impairment HP:0002829 | Arthralgia HP:0001373 | Joint dislocation HP:0001974 | Leukocytosis HP:0000979 | Purpura HP:0001874 | Abnormality of neutrophils HP:0001263 | Global developmental delay HP:0011227 | Elevated C-reactive protein level HP:0001025 | Urticaria HP:0002353 | EEG abnormality HP:0002716 | Lymphadenopathy HP:0003326 | Myalgia HP:0001945 | Fever HP:0001476 | Delayed closure of the anterior fontanelle HP:0001156 | Brachydactyly syndrome HP:0001510 | Growth delay HP:0000520 | Proptosis HP:0001872 | Abnormality of thrombocytes HP:0002652 | Skeletal dysplasia HP:0001744 | Splenomegaly HP:0100533 | Inflammatory abnormality of the eye HP:0000969 | Edema HP:0001622 | Premature birth HP:0100654 | Retrobulbar optic neuritis HP:0000618 | Blindness HP:0000365 | Hearing impairment HP:0002240 | Hepatomegaly HP:0000505 | Visual impairment HP:0001367 | Abnormal joint morphology HP:0002007 | Frontal bossing HP:0012378 | Fatigue HP:0000256 | Macrocephaly HP:0000554 | Uveitis HP:0002017 | Nausea and vomiting HP:0000538 | Pseudopapilledema HP:0001903 | Anemia HP:0004349 | Reduced bone mineral density HP:0002516 | Increased intracranial pressure HP:0001287 | Meningitis HP:0200034 | Papule HP:0001249 | Intellectual disability HP:0001911 | Abnormality of granulocytes HP:0002076 | Migraine HP:0003565 | Elevated erythrocyte sedimentation rate |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 456 |
|---|---|
| Disease | cinca syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908152 | NA | 114548 | NLRP3 | umls:C0409818 | CLINVAR | NA | 0.450043349 | NA | NLRP3 | 1 | 247425167 | T | C |
| rs121908153 | NA | 114548 | NLRP3 | umls:C0409818 | CLINVAR | NA | 0.450043349 | NA | NLRP3 | 1 | 247424356 | G | A,C |
| rs121908153 | 20131270 | 114548 | NLRP3 | umls:C0409818 | BeFree | Our findings identify the novel p.D303H NLRP3 variant in a Spanish patient with CINCA/NOMID as a new disease-causing mutation, which was detected as a somatic, nongermline mutation in hematopoietic and nonhematopoietic cell lineages. | 0.450043349 | 2010 | NLRP3 | 1 | 247424356 | G | A,C |
| rs121908154 | NA | 114548 | NLRP3 | umls:C0409818 | CLINVAR | NA | 0.450043349 | NA | NLRP3 | 1 | 247424375 | T | C |
| rs180177433 | 18080732 | 114548 | NLRP3 | umls:C0409818 | BeFree | CIAS1 sequencing identified the T436I mutation, previously associated to a clinical phenotype of chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease. | 0.450043349 | 2008 | NLRP3 | 1 | 247424756 | C | A,T |
| rs180177451 | 16532456 | 114548 | NLRP3 | umls:C0409818 | BeFree | Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment. | 0.450043349 | 2006 | NLRP3 | 1 | 247424442 | C | A |
| rs180177451 | 16532456 | 3557 | IL1RN | umls:C0409818 | BeFree | Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment. | 0.001085767 | 2006 | NLRP3 | 1 | 247424442 | C | A |
| rs180177468 | 16802372 | 114548 | NLRP3 | umls:C0409818 | BeFree | In this report we describe a case of severe chronic infantile neurologic, cutaneous, articular (CINCA) syndrome with a novel G307V cryopyrin mutation and all of the characteristic clinical and laboratory features of this autoinflammatory disease. | 0.450043349 | 2006 | NLRP3 | 1 | 247424369 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (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.) | |