Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Amyloidosis (D000686)
Parent Node: Cryopyrin-Associated Periodic Syndromes (D056587)
Parent Node: Deafness (D003638)
Parent Node: Urticaria (D014581)
..Starting node ..MUCKLE-WELLS SYNDROME (OMIM:191900)
Child Nodes:
Sister Nodes:
..Angioedema (D000799) 5
..FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
..Familial dermographism (C536612)
..MUCKLE-WELLS SYNDROME (OMIM:191900)
..Papular urticaria (C537169)
..Urticaria, Aquagenic (C562481)
..Urticaria, Familial Localized Heat (C566011)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7417

Name:

MUCKLE-WELLS SYNDROME

Definition:

Alternative IDs:

ParentIDs:

MESH:D000686|MESH:D003638|MESH:D014581|MESH:D056587

TreeNumbers:

C09.218.458.341.186/191900 |C10.597.751.418.341.186/191900 |C16.320.382.500/191900 |C17.800.827.368.500/191900 |C17.800.862.945/191900 |C18.452.845.500/191900 |C20.543.480.904/191900 |C23.888.592.763.393.341.186/191900

Synonyms:

CAPS2 |CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 2 |MWS |UDA SYNDROME |URTICARIA-DEAFNESS-AMYLOIDOSIS SYNDROME

Slim Mappings:

Reference:

MedGen: 191900
MeSH: 191900
OMIM: 191900;

Genes: NLRP3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0000153	Abnormality of the mouth
4	HP:0000951	Abnormality of the skin
5	HP:0002829	Arthralgia
6	HP:0000509	Conjunctivitis
7	HP:0003565	Elevated erythrocyte sedimentation rate
8	HP:0000365	Hearing impairment
9	HP:0001974	Leukocytosis
10	HP:0003326	Myalgia
11	HP:0000408	Progressive sensorineural hearing impairment
12	HP:0011107	Recurrent aphthous stomatitis
13	HP:0001954	Recurrent fever
14	HP:0001917	Renal amyloidosis
15	HP:0000083	Renal insufficiency

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001243133.1(NLRP3):c.778C>T (p.Arg260Trp)	114548	NLRP3	Pathogenic	121908150	RCV000004623; RCV000004622; RCV000221297;	N	MedGen:C0268390,OMIM:191900,ORPHA:575,SNOMED CT:15123008; MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:CN221809	1	247587529	247587529	NM_001243133.1:c.778C>T	NP_001230062.1:p.Arg260Trp	NC_000001.10:g.247587529C>T	OMIM Allelic Variant:606416.0005	C0268390 191900 Familial amyloid nephropathy with urticaria AND deafness; C0343068 120100 Familial cold urticaria; CN221809 not provided
NM_001243133.1(NLRP3):c.907G>A (p.Asp303Asn)	114548	NLRP3	Pathogenic	121908153	RCV000084240; RCV000004627; RCV000004626; RCV000214348;	N	MedGen:C0268390,OMIM:191900,ORPHA:575,SNOMED CT:15123008; MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:C0409818,OMIM:607115,ORPHA:1451,SNOMED CT:239826001; MedGen:CN221809	1	247587658	247587658	NM_001243133.1:c.907G>A	NP_001230062.1:p.Asp303Asn	NC_000001.10:g.247587658G>A,NC_000001.10:g.247587658G>C	OMIM Allelic Variant:606416.0008	C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome; C0268390 191900 Familial amyloid nephropathy with urticaria AND deafness; C0343068 120100 Familial cold urticaria; CN221809 not provided
NM_001243133.1(NLRP3):c.1055C>T (p.Ala352Val)	114548	NLRP3	Pathogenic	121908149	RCV000084171; RCV000004621;	N	MedGen:C0268390,OMIM:191900,ORPHA:575,SNOMED CT:15123008; MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587806	247587806	NM_001243133.1:c.1055C>T	NP_001230062.1:p.Ala352Val	NC_000001.10:g.247587806C>T	OMIM Allelic Variant:606416.0004	C0268390 191900 Familial amyloid nephropathy with urticaria AND deafness; C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1705G>C (p.Gly569Arg)	114548	NLRP3	Pathogenic	121908151	RCV000084204; RCV000004624;	N	MedGen:C0268390,OMIM:191900,ORPHA:575,SNOMED CT:15123008; MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588456	247588456	NM_001243133.1:c.1705G>C	NP_001230062.1:p.Gly569Arg	NC_000001.10:g.247588456G>C	OMIM Allelic Variant:606416.0006	C0268390 191900 Familial amyloid nephropathy with urticaria AND deafness; C0343068 120100 Familial cold urticaria