NLRP12-associated hereditary periodic fever syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: NAPS12
FCAS2
Familial cold autoinflammatory syndrome type 2
Number of Symptoms 10
OrphanetNr: 247868
OMIM Id: 611762
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autoinflammatory syndrome with skin involvement
 -Rare skin disease
Hereditary periodic fever syndrome
 -Rare genetic disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0011107) Recurrent aphthous stomatitis 13 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment 18230725 IBIS 524 / 7739
3
 (HPO:0002315) Headache 175 / 7739
4
 (HPO:0002829) Arthralgia 18230725 IBIS 79 / 7739
5
 (HPO:0002027) Abdominal pain 184 / 7739
6
 (HPO:0001025) Urticaria 73 / 7739
7
 (HPO:0001954) Episodic fever 18230725 IBIS 27 / 7739
8
 (HPO:0011227) Elevated C-reactive protein level 18230725 IBIS 55 / 7739
9
 (HPO:0003326) Myalgia 18230725 IBIS 143 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jeru et al. (2008) reported 2 unrelated families from Guadeloupe with a periodic fever syndrome. Inheritance was autosomal dominant. Affected 10-year-old twin boys in one family had onset in the first days of life of episodic fever, arthralgia, ...
Molecular genetics OMIM In affected members of 2 unrelated families with FCAS2, Jeru et al. (2008) identified heterozygosity for mutation in the NLRP12 gene (609648.0001 and 609648.0002, respectively).