PedAM

Pediatric Disease Annotations & Medicines


	muckle-wells syndrome

Disease ID	160
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	ORPHANET:575
OMIM	OMIM:191900 OMIM:248700 OMIM:607724
DOID	DOID:0050854
UMLS	C0268390
SNOMED-CT	SNOMEDCT_US_2016_09_01:15123008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0042109 \| urticarial \| 1 C0042384 \| vasculitis \| 1 C0042109 \| urticaria \| 1 C0018784 \| sensorineural hearing loss \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) NLRP3 \| 114548 \| CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR CAPS2 \| 84698 \| OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:37) 7132 \| TNFRSF1A \| DISEASES 4210 \| MEFV \| DISEASES 10392 \| NOD1 \| DISEASES 4598 \| MVK \| DISEASES 29108 \| PYCARD \| DISEASES 1401 \| CRP \| DISEASES 3569 \| IL6 \| DISEASES 3557 \| IL1RN \| DISEASES 26525 \| IL36RN \| DISEASES 4069 \| LYZ \| DISEASES 3553 \| IL1B \| DISEASES 6687 \| SPG7 \| DISEASES 80013 \| FAM188A \| DISEASES 3606 \| IL18 \| DISEASES 3562 \| IL3 \| DISEASES 64127 \| NOD2 \| DISEASES 3556 \| IL1RAP \| DISEASES 91662 \| NLRP12 \| DISEASES 27445 \| PCLO \| DISEASES 114548 \| NLRP3 \| DISEASES 79092 \| CARD14 \| DISEASES 31 \| ACACA \| DISEASES 6288 \| SAA1 \| DISEASES 1822 \| ATN1 \| DISEASES 5336 \| PLCG2 \| DISEASES 58484 \| NLRC4 \| DISEASES 9447 \| AIM2 \| DISEASES 6283 \| S100A12 \| DISEASES 55315 \| SLC29A3 \| DISEASES 338442 \| HCAR2 \| DISEASES 838 \| CASP5 \| DISEASES 7124 \| TNF \| DISEASES 55655 \| NLRP2 \| DISEASES 834 \| CASP1 \| DISEASES 4671 \| NAIP \| DISEASES 9051 \| PSTPIP1 \| DISEASES 22861 \| NLRP1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) NLRP3 \| 1q44

Disease ID	160
Disease	muckle-wells syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:37) HP:0100534 \| Episcleritis HP:0000366 \| Abnormality of the nose HP:0002829 \| Arthralgia HP:0000823 \| Delayed puberty HP:0000988 \| Skin rash HP:0001917 \| Renal amyloidosis HP:0001025 \| Urticaria HP:0004299 \| Hernia of the abdominal wall HP:0003326 \| Myalgia HP:0100490 \| Camptodactyly of finger HP:0001945 \| Fever HP:0000078 \| Abnormality of the genital system HP:0008064 \| Ichthyosis HP:0004322 \| Short stature HP:0001744 \| Splenomegaly HP:0000501 \| Glaucoma HP:0001761 \| Pes cavus HP:0000174 \| Abnormality of the palate HP:0002240 \| Hepatomegaly HP:0011107 \| Recurrent aphthous stomatitis HP:0000100 \| Nephrotic syndrome HP:0002091 \| Restrictive lung disease HP:0002633 \| Vasculitis HP:0000256 \| Macrocephaly HP:0000509 \| Conjunctivitis HP:0000408 \| Progressive sensorineural hearing impairment HP:0000554 \| Uveitis HP:0001369 \| Arthritis HP:0001939 \| Abnormality of metabolism/homeostasis HP:0006824 \| Cranial nerve paralysis HP:0001903 \| Anemia HP:0000112 \| Nephropathy HP:0001769 \| Broad foot HP:0000648 \| Optic atrophy HP:0001608 \| Abnormality of the voice HP:0002027 \| Abdominal pain HP:0003565 \| Elevated erythrocyte sedimentation rate
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0001025 \| Hives \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0000969 \| Dropsy \| 1 HP:0008527 \| Hearing loss, congenital sensorineural \| 1 HP:0002633 \| Vasculitis \| 1

Disease ID	160
Disease	muckle-wells syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C2029884 \| hearing loss C0581883 \| deafness C0037284 \| skin lesions C0009269 \| cold sensitivity
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C1384666 \| hearing loss \| 2 C0037284 \| skin lesions \| 1

Manually Genotype(Total Text Mining 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:4)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
12	75692755	rs7296952	NM_032606,CAPS2	ENST00000328705,ENSG00000180881	ENST00000336815,ENSG00000180881	ENST00000409445,ENSG00000180881	ENST00000409799,ENSG00000180881	ENST00000409004,ENSG00000180881	ENST00000378703,ENSG00000180881	ENST00000393284,ENSG00000180881	ENST00000442339,ENSG00000180881	ENST00000534648,ENSG00000254451	NA	NA	NA	NA	LM50,1.7192	LM85,1.3696	LM98,4.0927	LM163,3.7954	LM180,2.3465	NA	NA	NA	NA	NA	NA	0.000	0.065	0.115	R0	A	NA	NA	NA	NA	NA
12	75693751	rs7301532	NM_032606,CAPS2	ENST00000328705,ENSG00000180881	ENST00000336815,ENSG00000180881	ENST00000409445,ENSG00000180881	ENST00000409799,ENSG00000180881	ENST00000409004,ENSG00000180881	ENST00000378703,ENSG00000180881	ENST00000393284,ENSG00000180881	ENST00000442339,ENSG00000180881	NA	NA	NA	NA	Fkh1-FL-primary,1.4029	Irx3_0920,1.9614	Irx3_0920,1.2824	Irx3_2226,1.7342	Irx4_2242,1.8141	NA	NA	NA	NA	NA	NA	0.000	0.455	2.69	F1	A	0.269	0.351	0.232	0.300	0.300	0.330
12	75707396	rs11837697	NM_032606,CAPS2	ENST00000328705,ENSG00000180881	ENST00000336815,ENSG00000180881	ENST00000436898,ENSG00000180881	ENST00000409445,ENSG00000180881	ENST00000409799,ENSG00000180881	ENST00000409004,ENSG00000180881	ENST00000393284,ENSG00000180881	ENST00000442339,ENSG00000180881	NA	NA	chr12,75700001,75710000,chr12,88090001,88100000,30,Hi-C	chr12,75700001,75710000,chr2,19210001,19220000,111,Hi-C	NA	Dbx2_3487,1.3318	Dlx3_1030,1.8239	Dlx4_3488,1.5033	Hoxa2_3079,1.4366	Hoxa6_1040,1.7254	NA	NA	NA	NA	NA	NA	0.000	0.444	1.39	F1	G	NA	NA	NA	NA	NA
12	75718423	rs12318506	NM_032606,CAPS2	ENST00000328705,ENSG00000180881	ENST00000336815,ENSG00000180881	ENST00000436898,ENSG00000180881	ENST00000486196,ENSG00000180881	ENST00000409445,ENSG00000180881	ENST00000409799,ENSG00000180881	ENST00000393284,ENSG00000180881	ENST00000442339,ENSG00000180881	ENST00000493070,ENSG00000180881	NA	NA	NA	NA	LM30,18.1974	LM31,2.0827	LM32,2.4686	LM41,5.8414	LM54,5.8486	NA	NA	NA	NA	NA	NA	0.025	-0.761	-5.03	F0	G	NA	NA	NA	NA	NA

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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