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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

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

Disease Browser
Parent Node: Hereditary Autoinflammatory Diseases (D056660)
..Starting node ..Cryopyrin-Associated Periodic Syndromes (D056587)
Child Nodes:
........Cold Hypersensitivity (C569627)
........FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
........Familial Cold Autoinflammatory Syndrome 2 (C567090)
........MUCKLE-WELLS SYNDROME (OMIM:191900)
Sister Nodes:
..Cryopyrin-Associated Periodic Syndromes (D056587) 4
..Deficiency of interleukin-1 receptor antagonist (C557815)
..Familial Mediterranean Fever (D010505) 1
..Mevalonate Kinase Deficiency (D054078)
..Periodic fever, familial, autosomal dominant (C536657)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2875

Name:

Cryopyrin-Associated Periodic Syndromes

Definition:

A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.

Alternative IDs:

OMIM:607115

ParentIDs:

MESH:D056660

TreeNumbers:

C16.320.382.500 |C17.800.827.368.500

Synonyms:

CAPS3 |Chronic Infantile Neurological, Cutaneous, and Articular Syndrome |Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome |Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome |Chronic Neurologic Cutaneous and Articular Syndrome |Ch

Slim Mappings:

Genetic disease (inborn)|Skin disease

Reference:

MedGen: D056587
MeSH: D056587
OMIM: 607115;

Genes: NLRP3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001945	Fever
3	HP:0002007	Frontal bossing
4	HP:0001510	Growth delay
5	HP:0000408	Progressive sensorineural hearing impairment
6	HP:0000520	Proptosis

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.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.926T>C (p.Phe309Ser)	114548	NLRP3	Pathogenic	121908154	RCV000084248; RCV000004628;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:C0409818,OMIM:607115,ORPHA:1451,SNOMED CT:239826001	1	247587677	247587677	NM_001243133.1:c.926T>C	NP_001230062.1:p.Phe309Ser	NC_000001.10:g.247587677T>C	OMIM Allelic Variant:606416.0009	C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome; C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1718T>C (p.Phe573Ser)	114548	NLRP3	Pathogenic	121908152	RCV000084210; RCV000004625;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:C0409818,OMIM:607115,ORPHA:1451,SNOMED CT:239826001	1	247588469	247588469	NM_001243133.1:c.1718T>C	NP_001230062.1:p.Phe573Ser	NC_000001.10:g.247588469T>C	OMIM Allelic Variant:606416.0007	C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome; C0343068 120100 Familial cold urticaria