Individuals with MWS often have episodic fever, chills, and joint pain. As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the protein cryopyrin. [icd.codes]

The most dreadful in this category is surely the spine-chilling glioblastoma multiforme. [theneurologylounge.com]

Throughout, the approach of OTM is humane and ethical and, at the same time, factual, reliable, honest(especially where knowledge is limited) and rigorously scientific. This is not just a textbook of "First World" medicine. [books.google.com]

Clinically they are characterized by renal involvement with nephrotic syndrome, hypertension, hepatosplenomegaly, petechial rash and cholestasis. [ivami.com]

Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system. [uniprot.org]

Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. Sequence similarities Belongs to the apolipoprotein A1/A4/E family. [abcam.com]

Chronic weakness, edema, proteinuria, and hepatosplenomegaly were features. McKusick (1974) followed up on the family reported by Maxwell and Kimbell (1936). [genome.jp]

We describe the clinical features of another such family in whom petechial skin rash appeared to be a marker for the disease, which was non-neuropathic and of the Ostertag-type. [ncbi.nlm.nih.gov]

Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system. [uniprot.org]

Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. Sequence similarities Belongs to the apolipoprotein A1/A4/E family. [abcam.com]

Petechial skin rash was a striking feature, and petechial hemorrhages were induced by minimal abrasion. Extensive amyloid deposition in the lungs was illustrated. [genome.jp]

MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease—in fact, all three are related to mutations in the same gene and subsumed under the term cryopyrin-associated periodic syndromes [icd.codes]

Cerebrovascular amyloidosis Conjunctival amyloidosis Cutaneous amyloidosis Danish type familial amyloid cardiomyopathy Dilated cardiomyopathy secondary to amyloidosis Dominant primary localized cutaneous amyloidosis Familial amyloid nephropathy with urticaria [emedcodes.com]

[…] effusions& pain Myelopathy β 2 -microglobulin Amyloidosis, renal (ALys) Renal Visceral Lysozyme (LYZ) AApoAIIRenalApolipoprotein A II (APOA2) AApoCIIRenalApolipoprotein C II (APOC2) AApoCIIIRenalApolipoprotein C III (APOC3) Muckle-Wells syndrome Cold urticaria [neuromuscular.wustl.edu]

Although some features of the family of Maxwell and Kimbell (1936) are similar to those of urticaria, deafness and amyloidosis ( 191900 ), no deafness was present in their family. [genome.jp]

The APOA1 gene, located on the long arm of chromosome 11 (11q23-q24), encoding apolipoprotein A-1 (apoA-I), the main component of high density lipoproteins (HDL) plasma. [ivami.com]

Its gene is located on the long arm of chromosome 18 and contains 4 exons and 3 introns. [5] The systemic amyloidoses are designated by a capital A (for amyloid) followed by the abbreviation for the chemical identity of the fibril protein. [emedicine.medscape.com]

MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease—in fact, all three are related to mutations in the same gene and subsumed under the term cryopyrin-associated periodic syndromes [icd.codes]

Cryopyrin-associated periodic syndrome-associated amyloidosis (CAPS) includes familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). [patient.info]