eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| muckle-wells syndrome | ||||
| Disease ID | 419 |
|---|---|
| Disease | muckle-wells syndrome |
| Definition | An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It is characterized by recurrent episodes of urticaria and fever which develop in infancy. It may lead to sensorineural hearing loss and/or amyloidosis. |
| Synonym | amyloid nephropathy with deafness and urticaria caps2 cryopyrin-associated periodic syndrome 2 familial amyloid nephropathy with urticaria and deafness familial amyloid nephropathy with urticaria and deafness (disorder) muckle well syndrome muckle wells syndrome muckle-wells type amyloidosis mws syndrome, muckle-wells syndrome, uda syndrome, urticaria-deafness-amyloidosis syndromes, uda syndromes, urticaria-deafness-amyloidosis uda syndrome uda syndromes urticaria deafness amyloidosis syndrome urticaria, deafness and amyloidosis urticaria-deafness-amyloidosis syndrome urticaria-deafness-amyloidosis syndromes |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268390 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0042384 | vasculitis | 1 C0042109 | urticarial | 1 C0018784 | sensorineural hearing loss | 1 C0042109 | urticaria | 1 C0004352 | autism | 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:19) 31 | ACACA | 1.233 | DISEASES 9447 | AIM2 | 2.397 | DISEASES 1822 | ATN1 | 3.808 | DISEASES 79092 | CARD14 | 2.204 | DISEASES 834 | CASP1 | 4.347 | DISEASES 838 | CASP5 | 2.076 | DISEASES 338442 | HCAR2 | 1.816 | DISEASES 4671 | NAIP | 1.458 | DISEASES 58484 | NLRC4 | 2.795 | DISEASES 22861 | NLRP1 | 3.403 | DISEASES 55655 | NLRP2 | 3.303 | DISEASES 114548 | NLRP3 | 7.158 | DISEASES 27445 | PCLO | 1.67 | DISEASES 5336 | PLCG2 | 1.446 | DISEASES 9051 | PSTPIP1 | 2.66 | DISEASES 6283 | S100A12 | 2.737 | DISEASES 6288 | SAA1 | 1.552 | DISEASES 55315 | SLC29A3 | 1.632 | DISEASES 7124 | TNF | 1.274 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) NLRP3 | 1q44 |
| Disease ID | 419 |
|---|---|
| Disease | muckle-wells syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:37) HP:0001025 | Urticaria HP:0000078 | Abnormality of the genital system HP:0004322 | Short stature HP:0002027 | Abdominal pain HP:0000366 | Abnormality of the nose HP:0002829 | Arthralgia HP:0002091 | Restrictive lung disease HP:0003326 | Myalgia HP:0003565 | Elevated erythrocyte sedimentation rate HP:0004299 | Hernia of the abdominal wall HP:0001917 | Renal amyloidosis HP:0100534 | Episcleritis HP:0000112 | Nephropathy HP:0001903 | Anemia HP:0002633 | Vasculitis HP:0000554 | Uveitis HP:0000256 | Macrocephaly HP:0001608 | Abnormality of the voice HP:0001945 | Fever HP:0000648 | Optic atrophy HP:0000408 | Progressive sensorineural hearing impairment HP:0000823 | Delayed puberty HP:0002240 | Hepatomegaly HP:0001761 | Pes cavus HP:0001939 | Abnormality of metabolism/homeostasis HP:0000988 | Skin rash HP:0001769 | Broad foot HP:0011107 | Recurrent aphthous stomatitis HP:0001744 | Splenomegaly HP:0001369 | Arthritis HP:0000100 | Nephrotic syndrome HP:0000509 | Conjunctivitis HP:0100490 | Camptodactyly of finger HP:0006824 | Cranial nerve paralysis HP:0000174 | Abnormality of the palate HP:0000501 | Glaucoma HP:0008064 | Ichthyosis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0002633 | Vasculitis | 1 HP:0000969 | Dropsy | 1 HP:0001025 | Hives | 1 HP:0000717 | Autism | 1 HP:0000407 | sensorineural hearing loss | 1 HP:0008527 | Hearing loss, congenital sensorineural | 1 |
| Disease ID | 419 |
|---|---|
| Disease | muckle-wells syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908147 | 11687797 | 114548 | NLRP3 | umls:C0268390 | UNIPROT | This resulted in the identification of four distinct mutations in a gene that segregated with the disorder in three families with FCAS and one family with MWS. | 0.567057489 | 2001 | NLRP3 | 1 | 247424041 | G | A,C |
| rs121908149 | NA | 114548 | NLRP3 | umls:C0268390 | CLINVAR | NA | 0.567057489 | NA | NLRP3 | 1 | 247424504 | C | T |
| rs121908150 | NA | 114548 | NLRP3 | umls:C0268390 | CLINVAR | NA | 0.567057489 | NA | NLRP3 | 1 | 247424227 | C | T |
| rs121908151 | NA | 114548 | NLRP3 | umls:C0268390 | CLINVAR | NA | 0.567057489 | NA | NLRP3 | 1 | 247425154 | G | C |
| rs121908153 | 24365011 | 114548 | NLRP3 | umls:C0268390 | BeFree | The test showed a D305N heterozygous mutation in the NLRP3 gene, which is consistent with the diagnosis of Muckle-Wells syndrome. | 0.567057489 | 2013 | NLRP3 | 1 | 247424356 | G | A,C |
| rs121908153 | NA | 114548 | NLRP3 | umls:C0268390 | CLINVAR | NA | 0.567057489 | NA | NLRP3 | 1 | 247424356 | G | A,C |
| rs151344629 | 12930324 | 114548 | NLRP3 | umls:C0268390 | BeFree | In her CIAS1 gene we have found a 1043C-->T, T348M, mutation, which has only been detected in Muckle-Wells syndrome before. | 0.567057489 | 2003 | NLRP3 | 1 | 247424492 | C | T |
| rs180177470 | 22146561 | 114548 | NLRP3 | umls:C0268390 | BeFree | NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment. | 0.567057489 | 2011 | NLRP3 | 1 | 247424380 | G | A |
| rs180177488 | 18084703 | 114548 | NLRP3 | umls:C0268390 | BeFree | A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). | 0.567057489 | 2007 | NLRP3 | 1 | 247424384 | A | C |
| rs3743930 | 15071491 | 4210 | MEFV | umls:C0268390 | BeFree | The E148Q variant of MEFV was present in two of the three patients with TNF receptor-associated periodic syndrome (TRAPS) complicated by amyloid in two separate multiplex TRAPS families containing 5 and 16 affected members respectively, and the single patient with Muckle-Wells syndrome who had amyloidosis was homozygous for this variant. | 0.001085767 | 2004 | MEFV | 16 | 3254626 | C | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001769 | Broad foot | MP:0008138 | absent podocyte foot process | absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries |
| HP:0000366 | Abnormality of the nose | 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:0000078 | Abnormality of the genital system | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0004299 | Hernia of the abdominal wall | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0001608 | Abnormality of the voice | 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:0100490 | Camptodactyly of finger | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000174 | Abnormality of the palate | MP:0010701 | fusion of atlas and odontoid process | the large protuberance that projects upward from the cervical axis (C2), around which the cervical atlas normally rotates, is instead fused to elements of the atlas; the odontoid process may or may not remain attached to the axis |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| 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:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| HP:0000408 | Progressive sensorineural hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| HP:0002091 | Restrictive lung disease | MP:0008714 | increased lung carcinoma incidence | greater than the expected number of a malignant neoplasm of the ling, arising from epithelial cells, usually glandular or squamous, occurring in a specific population in a given time period |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
Mapped by homologous gene(Total Items:37) | ||||
|---|---|---|---|---|
| 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:0000509 | Conjunctivitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000112 | Nephropathy | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100534 | Episcleritis | MP:0011080 | increased macrophage apoptosis | greater incidence of cell death in macrophages |
| HP:0002633 | Vasculitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000174 | Abnormality of the palate | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004322 | Short stature | 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:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000501 | Glaucoma | 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: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:0000408 | Progressive sensorineural hearing impairment | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0100490 | Camptodactyly of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001761 | Pes cavus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001769 | Broad foot | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| 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:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001608 | Abnormality of the voice | 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:0000078 | Abnormality of the genital system | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0001025 | Urticaria | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0004299 | Hernia of the abdominal wall | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001917 | Renal amyloidosis | MP:0011085 | postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| 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:0000100 | Nephrotic syndrome | 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:0000366 | Abnormality of the nose | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011107 | Recurrent aphthous stomatitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000648 | Optic atrophy | 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:0002091 | Restrictive lung disease | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 419 |
|---|---|
| Disease | muckle-wells syndrome |
| Case | (Waiting for update.) |