eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cinca syndrome | ||||
| Disease ID | 829 |
|---|---|
| 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:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:19) 1822 | ATN1 | 2.396 | DISEASES 79092 | CARD14 | 2.34 | DISEASES 64170 | CARD9 | 1.971 | DISEASES 834 | CASP1 | 3.987 | DISEASES 1508 | CTSB | 1.21 | DISEASES 1668 | DEFA3 | 2.223 | DISEASES 81704 | DOCK8 | 1.796 | DISEASES 54475 | NLE1 | 1.731 | DISEASES 58484 | NLRC4 | 1.413 | DISEASES 22861 | NLRP1 | 1.625 | DISEASES 55655 | NLRP2 | 2.481 | DISEASES 114548 | NLRP3 | 6.886 | DISEASES 5027 | P2RX7 | 1.087 | DISEASES 27445 | PCLO | 1.805 | DISEASES 9051 | PSTPIP1 | 1.838 | DISEASES 201475 | RAB12 | 3.063 | DISEASES 6283 | S100A12 | 1.355 | DISEASES 6280 | S100A9 | 2.014 | DISEASES 7133 | TNFRSF1B | 1.2 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) NLRP3 | 1q44 |
| Disease ID | 829 |
|---|---|
| Disease | cinca syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:44) HP:0001025 | Urticaria HP:0001263 | Global developmental delay HP:0000520 | Proptosis HP:0001911 | Abnormality of granulocytes HP:0012378 | Fatigue HP:0000365 | Hearing impairment HP:0001287 | Meningitis HP:0001373 | Joint dislocation HP:0001156 | Brachydactyly syndrome HP:0002829 | Arthralgia HP:0002716 | Lymphadenopathy HP:0003326 | Myalgia HP:0003565 | Elevated erythrocyte sedimentation rate HP:0000618 | Blindness HP:0002007 | Frontal bossing HP:0002652 | Skeletal dysplasia HP:0100533 | Inflammatory abnormality of the eye HP:0001874 | Abnormality of neutrophils HP:0002516 | Increased intracranial pressure HP:0002017 | Nausea and vomiting HP:0000979 | Purpura HP:0000407 | Sensorineural hearing impairment HP:0000538 | Pseudopapilledema HP:0001903 | Anemia HP:0001510 | Growth delay HP:0002353 | EEG abnormality HP:0000554 | Uveitis HP:0000256 | Macrocephaly HP:0100654 | Retrobulbar optic neuritis HP:0001367 | Abnormal joint morphology HP:0001622 | Premature birth HP:0001945 | Fever HP:0002240 | Hepatomegaly HP:0002076 | Migraine HP:0001476 | Delayed closure of the anterior fontanelle HP:0001249 | Intellectual disability HP:0001744 | Splenomegaly HP:0001974 | Leukocytosis HP:0000505 | Visual impairment HP:0001872 | Abnormality of thrombocytes HP:0011227 | Elevated C-reactive protein level HP:0004349 | Reduced bone mineral density HP:0200034 | Papule HP:0000969 | Edema |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0200034 | Papule | 1 HP:0030350 | Erythematous papule | 1 HP:0001297 | Cerebral vascular events | 1 HP:0002863 | Myelodysplastic syndrome | 1 HP:0002621 | Atherosclerosis | 1 HP:0001548 | Overgrowth | 1 |
| Disease ID | 829 |
|---|---|
| Disease | cinca syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (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) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001874 | Abnormality of neutrophils | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0100533 | Inflammatory abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001476 | Delayed closure of the anterior fontanelle | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0003565 | Elevated erythrocyte sedimentation rate | MP:0008770 | decreased survivor rate | a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls |
| HP:0004349 | Reduced bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0001622 | Premature birth | MP:0009703 | decreased birth body size | reduction in average body size at birth compared to controls |
| HP:0001872 | Abnormality of thrombocytes | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0001367 | Abnormal joint morphology | MP:0002932 | abnormal joint morphology | any structural anomaly of the moveable articulation point of two or more bones |
| HP:0011227 | Elevated C-reactive protein level | MP:0008721 | abnormal chemokine level | deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes |
Mapped by homologous gene(Total Items:42) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002516 | Increased intracranial pressure | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001367 | Abnormal joint morphology | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002353 | EEG abnormality | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001872 | Abnormality of thrombocytes | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000407 | Sensorineural hearing impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001287 | Meningitis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0100533 | Inflammatory abnormality of the eye | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001373 | Joint dislocation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0011227 | Elevated C-reactive protein level | MP:0008721 | abnormal chemokine level | deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000554 | Uveitis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001622 | Premature birth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001025 | Urticaria | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000538 | Pseudopapilledema | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0002076 | Migraine | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002652 | Skeletal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003565 | Elevated erythrocyte sedimentation rate | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0200034 | Papule | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0000979 | Purpura | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001974 | Leukocytosis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0004349 | Reduced bone mineral density | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001874 | Abnormality of neutrophils | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002007 | Frontal bossing | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001476 | Delayed closure of the anterior fontanelle | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 829 |
|---|---|
| Disease | cinca syndrome |
| Case | (Waiting for update.) |