Familial cold urticaria

General Information (adopted from Orphanet):

Synonyms, Signs: COLD-INDUCED AUTOINFLAMMATORY SYNDROME, FAMILIAL
CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1
COLD URTICARIA, FAMILIAL
COLD HYPERSENSITIVITY
FCAS1
CAPS1
FCU
FCAS
Familial cold autoinflammatory syndrome
Number of Symptoms 31
OrphanetNr: 47045
OMIM Id: 120100
ICD-10: L50.2
UMLs: C0343068
MeSH:
MedDRA: 10064570
Snomed: 238687000

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Infancy
Childhood
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cryopyrin-associated periodic syndrome
 -Rare genetic disease
 -Rare immune disease
 -Rare skin disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001917) Renal amyloidosis rare [HPO:probinson] 8 / 7739
2
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
3
 (HPO:0100533) Inflammatory abnormality of the eye Occasional [Orphanet] 70 / 7739
4
 (HPO:0000509) Conjunctivitis 47 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
6
 (HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
7
 (HPO:0002829) Arthralgia 79 / 7739
8
 (HPO:0100769) Synovitis Very frequent [Orphanet] 86 / 7739
9
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
10
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
11
 (HPO:0001933) Subcutaneous hemorrhage Very frequent [Orphanet] 50 / 7739
12
 (HPO:0001025) Urticaria Very frequent [Orphanet] 73 / 7739
13
 (HPO:0000989) Pruritus Very frequent [Orphanet] 111 / 7739
14
 (HPO:0001974) Leukocytosis 33 / 7739
15
 (HPO:0001954) Episodic fever 27 / 7739
16
 (HPO:0001944) Dehydration Occasional [Orphanet] 59 / 7739
17
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
18
 (HPO:0003326) Myalgia Very frequent [Orphanet] 143 / 7739
19
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
20
 (OMIM) Episodic myalgia 3 / 7739
21
 (OMIM) Arthralgia, episodic 2 / 7739
22
 (OMIM) Headache, episodic 1 / 7739
23
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
24
 (OMIM) Increased serum C-reactive protein, episodic 1 / 7739
25
 (OMIM) Renal amyloidosis, late-onset 2 / 7739
26
 (OMIM) Rash may or may not be pruritic 2 / 7739
27
 (OMIM) Swelling of the extremities, episodic 1 / 7739
28
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
29
 (OMIM) Polymorphonuclear leukocytosis, episodic 2 / 7739
30
 (HPO:0003593) Infantile onset 249 / 7739
31
 (OMIM) Maculopapular rash, episodic 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' (Kile ...
Clinical Description OMIM Kile and Rusk (1940) first described familial cold urticaria. The proband in their family developed urticarial wheals, pain and swelling of joints, chills, and fever after exposure to the cold. Witherspoon et al. (1948) also described familial urticaria ...
Molecular genetics OMIM In 3 unrelated families with familial cold autoinflammatory syndrome, Hoffman et al. (2001) found 3 missense mutations in exon 3 of the CIAS1 gene (606416.0001-606416.0003). The families had been described by Shepard (1971), Vlagopoulos et al. (1975), and ...