familial cold autoinflammatory syndrome 2
An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.
Also known as: FCAS2, NALP12-associated hereditary periodic fever syndrome, NAPS12, NLRP12 familial cold autoinflammatory syndrome, NLRP12-associated hereditary periodic fever syndrome, familial cold autoinflammatory syndrome 2, familial cold autoinflammatory syndrome caused by mutation in NLRP12, familial cold autoinflammatory syndrome type 2.
Category: General
Symptoms associated with familial cold autoinflammatory syndrome 2
The following symptoms have been associated with familial cold autoinflammatory syndrome 2 in medical literature. Not everyone experiences the same symptoms.
Abdominal pain
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perc...
Arthralgia
Joint pain....
Headache
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve....
Myalgia
Pain in muscle....
Pharyngalgia
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perc...
Recurrent fever
Periodic (episodic or recurrent) bouts of fever....
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Skin rash
A red eruption of the skin....
Urticaria
Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intens...
Tests used to investigate familial cold autoinflammatory syndrome 2
Healthcare providers may order these tests when evaluating familial cold autoinflammatory syndrome 2. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with familial cold autoinflammatory syndrome 2, which is why a clinical evaluation is important.
Familial cold urticaria
Familial cold urticaria is a medical condition that may be associated with various symptoms and signs....
Granulomatosis with polyangiitis
Granulomatosis with polyangiitis is a medical condition that may be associated with various symptoms and signs...
Hyper-Igd syndrome
Hyper-Igd syndrome is a medical condition that may be associated with various symptoms and signs....
TNF receptor 1-associated periodic fever syndrome
A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasti...
deficiency of adenosine deaminase 2
A rare autoinflammatory disease characterized by a broad clinical phenotype of systemic inflammation, vasculit...
familial cold autoinflammatory syndrome 1
Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene....
Frequently Asked Questions
What is familial cold autoinflammatory syndrome 2?
familial cold autoinflammatory syndrome 2 is a health condition described in medical literature. An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.
What are the symptoms of familial cold autoinflammatory syndrome 2?
familial cold autoinflammatory syndrome 2 is associated with 9 symptoms in the medical literature we index, including Abdominal pain, Arthralgia, Headache, Myalgia, Pharyngalgia, Recurrent fever. Symptoms vary widely between individuals.
How is familial cold autoinflammatory syndrome 2 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with familial cold autoinflammatory syndrome 2 include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have familial cold autoinflammatory syndrome 2, please discuss your symptoms with a qualified healthcare provider.