ORPHA:47045

Familial cold urticaria

Synonyms: FCAS · FCU · Familial cold autoinflammatory syndrome

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Adolescent, Childhood, Infancy
Status: active

Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial cold urticaria	FCAS · FCU · Familial cold autoinflammatory syndrome
fr	Urticaire familiale au froid	FCU · SFAF · Syndrome familial auto-inflammatoire au froid
de	Kälte-Urtikaria, familiäre	Autoinflammatorisches Syndrom, kälteinduziertes, familiäre Form · FCAS · FCU
es	Urticaria familiar por frío	FCAS · FCU · Síndrome autoinflamatorio familiar por frío
it	Orticaria familiare da freddo	FCAS · FCAS1 · FCU · Sindrome autoinfiammatoria familiare da freddo
nl	Familiale koude-urticaria	FCAS · FCU · Familiaal auto-inflammatoir syndroom door koude · Familiale netelroos door koude
pt	Urticária induzida pelo frio familiar	FCAS · FCU · Síndrome auto-inflamatório induzido pelo frio familiar
pl	Rodzinna pokrzywka wywołana zimnem	FCAS · FCAS1 · FCU · Rodzinny zespół autozapalenia indukowany oziębieniem
cs	Familiární chladová kopřivka	FCAS · FCU · Familiární autoinflamatorní syndrom vyvolaný chladem
uk	Сімейна холодова кропивянка	Сімейний холодовий аутозапальний синдром · FCAS · FCU
zh	家族性寒冷性荨麻疹	家族性冷性自身炎症综合征
tr	Ailesel soğuk ürtiker	FCU · FCAS · Ailesel soğuk otoinflamatuar sendrom

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	120100	BTNT		validated
ICD-10	L50.2	NTBT	inclusion	validated
ICD-11	4A60.1	NTBT	index	validated
MONDO	0018768	E		validated
UMLS	C0343068	E		validated
GARD	9535	E		validated
MedDRA	10064570	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98023Rare systemic or rheumatologic disease

Parents in the classifications (1):

ORPHA:208650NLRP3-associated autoinflammatory disease
rare genetic diseases; rare skin diseases; rare immunological diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
NLRP3	Disease-causing germline mutation(s) (gain of function) in	Assessed	HGNC:16400	ENSG00000162711	606416	1q44	NLR family pyrin domain containing 3	11687797[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	Unknown	—	Europe	Class only	Not yet validated	24262697[PMID]
Point prevalence	Unknown	—	Europe	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

17 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001369	Arthritis
HP:0012534	Dysesthesia
HP:0010783	Erythema
HP:0012378	Fatigue
HP:0001945	Fever
HP:0000975	Hyperhidrosis
HP:0003326	Myalgia
HP:0000989	Pruritus
HP:0001025	Urticaria
Frequent (79-30%)
HP:0002315	Headache
HP:0002017	Nausea and vomiting
Occasional (29-5%)
HP:0002027	Abdominal pain
HP:0002829	Arthralgia
HP:0000509	Conjunctivitis
HP:0001944	Dehydration
HP:0001959	Polydipsia
HP:0000407	Sensorineural hearing impairment

Run the differential on the 9 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/47045
This record as JSON: /data/d/47045.json