FCU
MCID: FML052
MIFTS: 59

Familial Cold Autoinflammatory Syndrome (FCU)

Categories: Blood diseases, Bone diseases, Endocrine diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Familial Cold Autoinflammatory Syndrome

MalaCards integrated aliases for Familial Cold Autoinflammatory Syndrome:

Name: Familial Cold Autoinflammatory Syndrome 12 52 25 58 36 29 6 15
Familial Cold Urticaria 52 25 58 71
Fcas 52 25 58
Cold Hypersensitivity 25 71
Fcu 25 58
Familial Cold-Induced Autoinflammatory Syndrome 25
Familial Polymorphous Cold Eruption 52

Characteristics:

Orphanet epidemiological data:

58
familial cold urticaria
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0090061
KEGG 36 H02159
ICD10 32 L50.2
UMLS via Orphanet 72 C0343068
Orphanet 58 ORPHA47045
UMLS 71 C0343068 C3489856

Summaries for Familial Cold Autoinflammatory Syndrome

Genetics Home Reference : 25 Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life. People with this condition usually experience symptoms after cold exposure of an hour or more, although in some individuals only a few minutes of exposure is required. Symptoms may be delayed for up to a few hours after the cold exposure. Episodes last an average of 12 hours, but may continue for up to 3 days. In people with familial cold autoinflammatory syndrome, the most common symptom that occurs during an episode is an itchy or burning rash. The rash usually begins on the face or extremities and spreads to the rest of the body. Occasionally swelling in the extremities may occur. In addition to the skin rash, episodes are characterized by fever, chills, and joint pain, most often affecting the hands, knees, and ankles. Redness in the whites of the eye (conjunctivitis), sweating, drowsiness, headache, thirst, and nausea may also occur during an episode of this disorder.

MalaCards based summary : Familial Cold Autoinflammatory Syndrome, also known as familial cold urticaria, is related to familial cold autoinflammatory syndrome 1 and familial cold autoinflammatory syndrome 2. An important gene associated with Familial Cold Autoinflammatory Syndrome is NLRP3 (NLR Family Pyrin Domain Containing 3), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Ginseng and Rilonacept have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are nausea and vomiting and hyperhidrosis

Disease Ontology : 12 A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.

NIH Rare Diseases : 52 Familial cold autoinflammatory syndrome is a type of periodic fever syndrome . Signs and symptoms may include include an itchy or burning rash; fever; and joint pain which are triggered by exposure to cold temperatures. It is inherited in an autosomal dominant manner and can be caused by mutations in the NLRP3 or NLRP12 genes . Management of this condition involves avoiding exposure to cold temperatures and treatment with specific types of medications.

KEGG : 36 Familial cold autoinflammatory syndrome (FCAS), also known as familial cold urticaria, is an autosomal dominant inflammatory disease that is characterized by episodes of rash, arthralgia, fever, conjunctivitis, and leukocytosis after generalized exposure to cold.

Related Diseases for Familial Cold Autoinflammatory Syndrome

Diseases in the Familial Cold Autoinflammatory Syndrome family:

Familial Cold Autoinflammatory Syndrome 1 Familial Cold Autoinflammatory Syndrome 2
Familial Cold Autoinflammatory Syndrome 3 Familial Cold Autoinflammatory Syndrome 4

Diseases related to Familial Cold Autoinflammatory Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 familial cold autoinflammatory syndrome 1 34.8 NLRP3 MEFV IL1R1 CASP1
2 familial cold autoinflammatory syndrome 2 34.7 NLRP3 NLRP12 MVK MEFV
3 cryopyrin-associated periodic syndrome 32.6 NLRP3 IL1RN IL1R1
4 autoinflammatory syndrome 31.6 PLCG2 NLRP3 NLRP12 NLRC4
5 exanthem 31.2 NLRP3 MEFV IL1RN
6 conjunctivitis 31.1 NLRP3 NLRP12 NLRC4
7 cold urticaria 30.9 PLCG2 NLRP3 IL1RAPL2 IL1R1
8 wells syndrome 30.8 NLRP3 MEFV IL1RAPL2 IL1R1 IL1B
9 hereditary periodic fever syndrome 30.7 NLRP3 MEFV
10 amyloidosis aa 30.6 SAA1 MEFV
11 amyloidosis 30.6 SAA1 NLRP3 MEFV IL1RN
12 physical urticaria 30.5 PLCG2 NLRP3
13 hyper-igd syndrome 30.5 SAA1 MVK IL1RN
14 arthropathy 30.2 NLRP3 IL1RN IL1RAPL2 IL1B
15 rheumatic disease 29.8 MEFV IL1RN IL1RAPL2 IL1R1 IL1B IL18
16 proteasome-associated autoinflammatory syndrome 1 29.7 NLRP3 MVK MEFV IL1RN IL1RAPL2 IL1R1
17 periodic fever, familial, autosomal dominant 29.0 PSTPIP1 NOD2 NLRP3 NLRP12 MVK MEFV
18 muckle-wells syndrome 27.9 PYCARD PSTPIP1 NOD2 NLRP3 NLRP12 NLRP1
19 familial mediterranean fever 27.7 SAA1 PYCARD PSTPIP1 NOD2 NLRP3 NLRP1
20 cinca syndrome 26.6 PYCARD PSTPIP1 PLCG2 NOD2 NLRP3 NLRP12
21 familial cold autoinflammatory syndrome 3 12.9
22 familial cold autoinflammatory syndrome 4 12.9
23 urticaria 10.5
24 uremic pruritus 10.5 IL1B IL18
25 stachybotrys chartarum 10.4 IL1B IL18
26 juvenile ankylosing spondylitis 10.4 MEFV IL1RN
27 macrophage activation syndrome 10.4 NLRC4 IL18
28 paratyphoid fever 10.4 IL1R1 IL1B CASP1
29 typhoid fever 10.4 IL1R1 IL1B CASP1
30 cysticercosis 10.4 IL1RAPL2 IL1B IL18
31 meningococcemia 10.4 IL1RN IL1B
32 chondrocalcinosis 10.4 NLRP3 IL1RN CASP1
33 conjunctival disease 10.3 NLRP3 IL1RN IL1B
34 papilledema 10.3 NLRP3 IL1RN IL1R1
35 cerebral artery occlusion 10.3 IL1RN IL1RAPL2 IL1B
36 dengue shock syndrome 10.3 IL1RN IL1RAPL2 IL1B
37 pneumoconiosis 10.3 NLRP3 IL1RN IL1B
38 autoinflammation with arthritis and dyskeratosis 10.3 NLRP1 IL18 CASP1
39 chlamydia 10.3 IL1B IL18 CASP1
40 pouchitis 10.3 NOD2 IL1RN
41 neisseria meningitidis infection 10.3 IL1RN IL1R1
42 smallpox 10.3 IL1RN IL1B IL18
43 pericarditis 10.3 MEFV IL1RN IL1B
44 gastroenteritis 10.3 NLRP12 IL1RN IL1B
45 marginal corneal ulcer 10.3 IL1RAP CASP1
46 peripheral nervous system disease 10.3
47 neuropathy 10.3
48 acute cholangitis 10.3 IL1RN IL1RAPL2
49 vulvar vestibulitis syndrome 10.2 NLRP3 IL1RN IL1R1 IL1B
50 systemic onset juvenile idiopathic arthritis 10.2 IL1RN IL1RAPL2 IL1B IL18

Graphical network of the top 20 diseases related to Familial Cold Autoinflammatory Syndrome:



Diseases related to Familial Cold Autoinflammatory Syndrome

Symptoms & Phenotypes for Familial Cold Autoinflammatory Syndrome

Human phenotypes related to Familial Cold Autoinflammatory Syndrome:

58 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 Frequent (79-30%)
2 hyperhidrosis 58 Very frequent (99-80%)
3 arthritis 58 Very frequent (99-80%)
4 sensorineural hearing impairment 58 Occasional (29-5%)
5 dehydration 58 Occasional (29-5%)
6 polydipsia 58 Occasional (29-5%)
7 fatigue 58 Very frequent (99-80%)
8 fever 58 Very frequent (99-80%)
9 arthralgia 58 Occasional (29-5%)
10 abdominal pain 58 Occasional (29-5%)
11 pruritus 58 Very frequent (99-80%)
12 erythema 58 Very frequent (99-80%)
13 urticaria 58 Very frequent (99-80%)
14 myalgia 58 Very frequent (99-80%)
15 headache 58 Frequent (79-30%)
16 conjunctivitis 58 Occasional (29-5%)
17 dysesthesia 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Familial Cold Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.84 CASP1 CASP5 IL18 IL1B NLRP1 NLRP3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.84 CASP1 CASP5 IL18 IL1B NLRP1 NLRP3

MGI Mouse Phenotypes related to Familial Cold Autoinflammatory Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.2 AIM2 CASP1 IL18 IL1B IL1R1 IL1RN
2 cellular MP:0005384 10.11 AIM2 CASP1 IL18 IL1R1 IL1RN MEFV
3 homeostasis/metabolism MP:0005376 10.1 AIM2 CASP1 IL18 IL1B IL1R1 IL1RN
4 immune system MP:0005387 10.06 AIM2 CASP1 IL18 IL1B IL1R1 IL1RAP
5 integument MP:0010771 9.61 CASP1 IL18 IL1B IL1R1 IL1RAP IL1RN
6 skeleton MP:0005390 9.28 AIM2 IL1B IL1R1 IL1RN MEFV NLRC4

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome

Drugs for Familial Cold Autoinflammatory Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
2
Rilonacept Approved, Investigational Phase 3 501081-76-1 104924
3 Cinnamon Approved Phase 2, Phase 3
4
Calcium polycarbophil Approved Phase 2, Phase 3 126040-58-2
5 Antibodies, Monoclonal Phase 3
6 Immunologic Factors Phase 3
7 Antibodies Phase 3
8 Immunoglobulins Phase 3
9 Vaccines Phase 3
10 Anti-Inflammatory Agents Phase 3
11 Mitogens Phase 2, Phase 3
12 Juzentaihoto Phase 2, Phase 3
13 Psyllium Phase 2, Phase 3
14
Oxaliplatin Approved, Investigational Phase 1, Phase 2 61825-94-3 5310940 9887054 6857599 43805
15
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
16
leucovorin Approved Phase 1, Phase 2 58-05-9 6006 143
17
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
18 Antirheumatic Agents Phase 1, Phase 2
19 Anesthetics, Local Phase 1, Phase 2
20 Anti-Arrhythmia Agents Phase 1, Phase 2
21 Pharmaceutical Solutions Phase 1, Phase 2
22 Anesthetics Phase 1, Phase 2
23 Sodium Channel Blockers Phase 1, Phase 2
24 Central Nervous System Depressants Phase 1, Phase 2
25 Diuretics, Potassium Sparing Phase 1, Phase 2
26 Interleukin 1 Receptor Antagonist Protein Phase 2

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Danggui-Sayuk-Ga-Osuyu-Saenggang-tang on Korean Patients With Cold Hypersensitivity in the Hands Completed NCT02645916 Phase 4 Danggui-Sayuk-Ga-Osuyu-Saenggang-tang;Placebo: corn starch
2 Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and Feet : a Randomized, Double-blind, Placebo-controlled Trial Completed NCT01664156 Phase 4 Korean red ginseng;Placebo
3 An Open Label Study to Assess the Safety, Tolerability and Efficacy of Canakinumab (ACZ885) in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada Completed NCT01105507 Phase 3 canakinumab (company code: ACZ885D)
4 An Open-label, Efficacy and Safety Study of Canakinumab (Anti-interleukin-1β Monoclonal Antibody) Administered for 6 Months (24 Weeks) in Japanese Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease, Followed by an Extension Phase to Provide Canakinumab to Study Patients Until it is Approved and Marketed in Japan Completed NCT00991146 Phase 3 canakinumab
5 An Open-label, Long-term Safety and Efficacy Study of ACZ885 (Anti-interleukin-1β Monoclonal Antibody) Administered for at Least 6 Months in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT00685373 Phase 3 Canakinumab (ACZ885)
6 An Open-label Extension Study to Assess Efficacy, Safety and Tolerability of Canakinumab and the Efficacy and Safety of Childhood Vaccinations in Patients With Cryopyrin Associated Periodic Syndromes (CAPS) Completed NCT01576367 Phase 3
7 A One-year Open-label, Multicenter Trial to Assess Efficacy, Safety and Tolerability of Canakinumab (ACZ885) and the Efficacy and Safety of Childhood Vaccinations in Patients Aged 4 Years or Younger With Cryopyrin Associated Periodic Syndromes (CAPS) Completed NCT01302860 Phase 3 ACZ885
8 IL1T-AI-0505: A Multi-center, Double-Blind, Placebo-Controlled Study of the Safety, Tolerability, & Efficacy of Rilonacept in Subjects With Cryopyrin-Associated Periodic Syndromes (CAPS) Using Parallel Group & Randomized Withdrawal Designs Completed NCT00288704 Phase 3 rilonacept 160 mg;Placebo;rilonacept 160 mg
9 Efficacy and Safety of Sipjeondaebo-tang on Korean Patients With Cold Hypersensitivity in the Hands and Feet (SDT) Recruiting NCT03374345 Phase 2, Phase 3 Sipjeondaebo-tang Granule;Placebo
10 Efficacy and Safety of Ojeok-san on Korean Patients With Cold Hypersensitivity in the Hands and Feet - A Randomized, Double-blinded, Placebo Controlled, Multi-center Pilot Study Recruiting NCT03083522 Phase 3 Ojeok-San;Placebo
11 Efficacy and Safety of Ucha-Shinki-Hwan on Korean Patients With Cold Hypersensitivity in the Hands and Feet (UCHA) Recruiting NCT03790033 Phase 2, Phase 3 Ucha-Shinki-Hwan;Placebo
12 Continuation of a Pilot Open-Label Study of IL 1 Trap in Adult Subjects With Autoinflammatory Diseases: A Therapeutic Approach to Study Pathogenesis Completed NCT00094900 Phase 2 IL-1 Trap
13 A Pilot Study of Anakinra in Behcet's Disease (BD) Completed NCT01441076 Phase 1, Phase 2 Anakinra
14 A Pilot Open-Label Study of Rilonacept (Arcalyst) in the Deficiency of the Interleukin-1 Receptor Antagonist (DIRA) Completed NCT01801449 Phase 2 Rilonacept
15 Intravenous Lidocaine for Preventing Painful Oxaliplatin-induced Peripheral Neuropathy (OIPN) Recruiting NCT03254394 Phase 1, Phase 2 Lidocaine Hydrochloride;Placebo;FOLFOX regimen
16 An Open Label, Single Arm Trial to Evaluate the Efficacy, Safety, and Pharmacokinetics of HL2351 in Patients With Cryopyrin Associated Periodic Syndromes Terminated NCT02853084 Phase 2 HL2351
17 A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome (FCAS) / Muckle-Wells Syndrome (MWS) and Behcet's Disease (BD) Withdrawn NCT01211977 Phase 1, Phase 2 XOMA 052
18 The Use of Kineret (Anakinra) in the Treatment of Familial Cold Urticaria Completed NCT00214851 Phase 1 Kineret (anakinra)
19 An Open-label, Long-term, Prospective, Observational Study to Monitor the Safety and Effectiveness of Ilaris in CAPS Patients Completed NCT01213641
20 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Completed NCT00933296
21 Somatosensory Profiles in Patients With Non Specific Neck Arm Pain With and Without Positive Neurodynamic Tests Completed NCT02629276
22 Pathogenesis and Genetic Basis of Physical Induced Urticarial Syndromes Recruiting NCT00887939
23 Genetics and Pathophysiology of Autoinflammatory Disorders. Recruiting NCT00001373

Search NIH Clinical Center for Familial Cold Autoinflammatory Syndrome

Genetic Tests for Familial Cold Autoinflammatory Syndrome

Genetic tests related to Familial Cold Autoinflammatory Syndrome:

# Genetic test Affiliating Genes
1 Familial Cold Autoinflammatory Syndrome 29

Anatomical Context for Familial Cold Autoinflammatory Syndrome

MalaCards organs/tissues related to Familial Cold Autoinflammatory Syndrome:

40
Skin, Eye, Bone, Liver, Testes, Monocytes

Publications for Familial Cold Autoinflammatory Syndrome

Articles related to Familial Cold Autoinflammatory Syndrome:

(show top 50) (show all 150)
# Title Authors PMID Year
1
An inherited mutation in NLRC4 causes autoinflammation in human and mice. 61 6
25385754 2014
2
Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. 61 6
12522564 2003
3
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. 61 6
11992256 2002
4
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. 61 6
11687797 2001
5
Familial cold urticaria. 61 6
49161 1975
6
An 'allergy' to cold. 6
447320 1979
7
Cold hypersensitivity. 6
5173311 1971
8
Rapid and Sustained Long-Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin-Associated Periodic Syndrome Ages Five Years and Younger. 61
31161734 2019
9
HSC70 regulates cold-induced caspase-1 hyperactivation by an autoinflammation-causing mutant of cytoplasmic immune receptor NLRC4. 61
31597739 2019
10
Recognising and understanding cryopyrin-associated periodic syndrome in adults. 61
31597069 2019
11
The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event. 61
31777803 2019
12
Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome. 61
30967326 2019
13
A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations. 61
30568124 2019
14
The NLRP3 inflammasome: a new player in neurological diseases. 61
31892810 2019
15
Clinical and Genetic Features of Familial Cold Urticaria: A Report of Three Families. 61
30246732 2018
16
Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease. 61
30183354 2018
17
Mimickers of Urticaria: Urticarial Vasculitis and Autoinflammatory Diseases. 61
29871797 2018
18
[Cryopyrin-associated periodic syndromes]. 61
29111302 2018
19
Chronic spontaneous urticaria or autoinflammatory disease? The therapeutic effect of omalizumab in a pediatric patient. 61
30426806 2018
20
NLRC4 inflammasomopathies. 61
28957823 2017
21
[Genetics of cryopyrin-associated periodic syndrome]. 61
28197772 2017
22
A Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome. 61
28229991 2017
23
Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation. 61
27435956 2016
24
NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms. 61
27134254 2016
25
Impact of IL-1 inhibition on fatigue associated with autoinflammatory syndromes. 61
26140469 2016
26
Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing. 61
27314497 2016
27
Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study. 61
26245507 2015
28
Withdrawn: An unusual urticarial eruption: familial cold autoinflammatory syndrome. 61
25988551 2015
29
CAPS--pathogenesis, presentation and treatment of an autoinflammatory disease. 61
25963520 2015
30
An unusual urticarial eruption: Familial cold autoinflammatory syndrome. 61
26115477 2015
31
[Cryopyrine-associated periodic syndrome: CAPS seen from adulthood]. 61
25595876 2015
32
The ketone metabolite β-hydroxybutyrate blocks NLRP3 inflammasome-mediated inflammatory disease. 61
25686106 2015
33
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. 61
24326009 2015
34
Urticarial vasculitis and urticarial autoinflammatory syndromes. 61
25586657 2015
35
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts. 61
25979514 2015
36
First report of keratitis in familial cold autoinflammatory syndrome. 61
24862780 2014
37
Periodic Fever: A Review on Clinical, Management and Guideline for Iranian Patients - Part II. 61
25562014 2014
38
Evaluation of hearing in patients with familial Mediterranean fever. 61
23306349 2013
39
Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry. 61
24016338 2013
40
Monogenic autoinflammatory diseases: concept and clinical manifestations. 61
23711932 2013
41
The pathogenesis of neonatal autoimmune and autoinflammatory diseases: a comprehensive review. 61
23375846 2013
42
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues. 61
24282415 2013
43
Ocular manifestations of the autoinflammatory syndromes. 61
22924780 2012
44
"Mutation negative" familial cold autoinflammatory syndrome (FCAS) in an 8-year-old boy: clinical course and functional studies. 61
21833523 2012
45
[Indications and modes of use for interleukin (IL)-1 antagonists in inflammatory dermatosis: a new therapeutic approach to immune-mediated inflammatory diseases]. 61
22721478 2012
46
Neonatal autoimmune diseases: a critical review. 61
22402339 2012
47
Cryopyrin-associated periodic syndromes: diagnosis and management. 61
22335455 2012
48
[Cryopyrin-associated periodic syndrome]. 61
22527214 2012
49
[An approach to the patients with cryopyrin-associated periodic syndrome (CAPS) : a new biologic response modifier, canakinumab]. 61
22374439 2012
50
The autoinflammatory diseases. 61
22714396 2012

Variations for Familial Cold Autoinflammatory Syndrome

ClinVar genetic disease variations for Familial Cold Autoinflammatory Syndrome:

6 (show top 50) (show all 243) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NLRP3 NM_001243133.1(NLRP3):c.1880A>G (p.Glu627Gly)SNV Pathogenic 4372 rs121908148 1:247588631-247588631 1:247425329-247425329
2 NLRP3 NM_001243133.1(NLRP3):c.1055C>T (p.Ala352Val)SNV Pathogenic 4373 rs121908149 1:247587806-247587806 1:247424504-247424504
3 NLRP3 NM_004895.4(NLRP3):c.784C>T (p.Arg262Trp)SNV Pathogenic 4374 rs121908150 1:247587529-247587529 1:247424227-247424227
4 NLRP3 NM_001243133.1(NLRP3):c.1705G>C (p.Gly569Arg)SNV Pathogenic 4375 rs121908151 1:247588456-247588456 1:247425154-247425154
5 NLRP3 NM_001243133.1(NLRP3):c.1718T>C (p.Phe573Ser)SNV Pathogenic 4376 rs121908152 1:247588469-247588469 1:247425167-247425167
6 NLRP3 NM_004895.4(NLRP3):c.913G>A (p.Asp305Asn)SNV Pathogenic 4377 rs121908153 1:247587658-247587658 1:247424356-247424356
7 NLRP3 NM_001243133.1(NLRP3):c.926T>C (p.Phe309Ser)SNV Pathogenic 4378 rs121908154 1:247587677-247587677 1:247424375-247424375
8 NLRP3 NM_004895.4(NLRP3):c.1064T>C (p.Leu355Pro)SNV Pathogenic 4379 rs28937896 1:247587809-247587809 1:247424507-247424507
9 NLRP3 NM_004895.4(NLRP3):c.1049C>T (p.Thr350Met)SNV Pathogenic 97909 rs151344629 1:247587794-247587794 1:247424492-247424492
10 NLRP3 NM_004895.4(NLRP3):c.1322C>T (p.Ala441Val)SNV Pathogenic 4370 rs121908146 1:247588067-247588067 1:247424765-247424765
11 NLRP3 NM_004895.4(NLRP3):c.2582A>G (p.Tyr861Cys)SNV Pathogenic 97960 rs180177452 1:247599355-247599355 1:247436053-247436053
12 NLRP3 NM_004895.4(NLRP3):c.916G>A (p.Glu306Lys)SNV Pathogenic 97981 rs180177484 1:247587661-247587661 1:247424359-247424359
13 NLRP3 NM_004895.4(NLRP3):c.920T>C (p.Leu307Pro)SNV Likely pathogenic 97982 rs180177431 1:247587665-247587665 1:247424363-247424363
14 NLRP3 NM_004895.4(NLRP3):c.785G>C (p.Arg262Pro)SNV Likely pathogenic 97969 rs180177442 1:247587530-247587530 1:247424228-247424228
15 NLRP3 NM_004895.4(NLRP3):c.1579G>A (p.Glu527Lys)SNV Likely pathogenic 97939 rs180177458 1:247588324-247588324 1:247425022-247425022
16 NLRP3 NM_004895.4(NLRP3):c.1219A>C (p.Thr407Pro)SNV Likely pathogenic 97916 rs180177445 1:247587964-247587964 1:247424662-247424662
17 NLRP3 NM_004895.4(NLRP3):c.598G>A (p.Val200Met)SNV Conflicting interpretations of pathogenicity 4371 rs121908147 1:247587343-247587343 1:247424041-247424041
18 NLRP3 NM_004895.4(NLRP3):c.1312A>G (p.Thr438Ala)SNV Conflicting interpretations of pathogenicity 97921 rs180177465 1:247588057-247588057 1:247424755-247424755
19 NLRP3 NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly)SNV Conflicting interpretations of pathogenicity 234290 rs147946775 1:247592912-247592912 1:247429610-247429610
20 NLRP3 NM_004895.4(NLRP3):c.2861C>T (p.Thr954Met)SNV Conflicting interpretations of pathogenicity 234293 rs139814109 1:247607973-247607973 1:247444671-247444671
21 NLRP3 NM_004895.4(NLRP3):c.1469G>A (p.Arg490Lys)SNV Conflicting interpretations of pathogenicity 97934 rs145268073 1:247588214-247588214 1:247424912-247424912
22 NLRP3 NM_004895.4(NLRP3):c.680C>T (p.Ala227Val)SNV Conflicting interpretations of pathogenicity 97966 rs180177493 1:247587425-247587425 1:247424123-247424123
23 NLRP3 NM_004895.4(NLRP3):c.950C>T (p.Pro317Leu)SNV Conflicting interpretations of pathogenicity 97990 rs180177462 1:247587695-247587695 1:247424393-247424393
24 NLRP3 NM_004895.4(NLRP3):c.1590C>T (p.Ala530=)SNV Conflicting interpretations of pathogenicity 138532 rs201644343 1:247588335-247588335 1:247425033-247425033
25 NLRP3 NM_004895.4(NLRP3):c.2124C>T (p.Leu708=)SNV Conflicting interpretations of pathogenicity 138534 rs149493236 1:247588869-247588869 1:247425567-247425567
26 NLRP3 NM_004895.4(NLRP3):c.214G>A (p.Val72Met)SNV Conflicting interpretations of pathogenicity 245593 rs117287351 1:247582310-247582310 1:247419008-247419008
27 NLRP3 NM_004895.4(NLRP3):c.2113C>A (p.Gln705Lys)SNV Conflicting interpretations of pathogenicity 259561 rs35829419 1:247588858-247588858 1:247425556-247425556
28 NLRP12 NM_144687.3(NLRP12):c.910C>T (p.His304Tyr)SNV Conflicting interpretations of pathogenicity 262532 rs141245482 19:54314003-54314003 19:53810749-53810749
29 NLRP12 NM_144687.3(NLRP12):c.3046C>T (p.Arg1016Ter)SNV Conflicting interpretations of pathogenicity 330001 rs35064500 19:54299165-54299165 19:53795911-53795911
30 NLRP12 NM_144687.3(NLRP12):c.2927+4_2927+5dupduplication Conflicting interpretations of pathogenicity 330005 rs763190690 19:54301491-54301492 19:53798237-53798238
31 NLRP12 NM_144687.3(NLRP12):c.2600G>A (p.Arg867His)SNV Conflicting interpretations of pathogenicity 330014 rs140731275 19:54304637-54304637 19:53801383-53801383
32 NLRP12 NM_144687.3(NLRP12):c.2575C>T (p.Arg859Trp)SNV Conflicting interpretations of pathogenicity 330017 rs573629753 19:54307216-54307216 19:53803962-53803962
33 NLRP12 NM_144687.3(NLRP12):c.1349C>T (p.Pro450Leu)SNV Conflicting interpretations of pathogenicity 330031 rs143640165 19:54313564-54313564 19:53810310-53810310
34 NLRP12 NM_144687.3(NLRP12):c.779C>T (p.Thr260Met)SNV Conflicting interpretations of pathogenicity 330037 rs150280940 19:54314134-54314134 19:53810880-53810880
35 NLRP3 NM_004895.4(NLRP3):c.1645A>T (p.Ser549Cys)SNV Conflicting interpretations of pathogenicity 536887 rs139833874 1:247588390-247588390 1:247425088-247425088
36 NLRP3 NM_004895.4(NLRP3):c.2126C>A (p.Pro709Gln)SNV Uncertain significance 583341 rs200378519 1:247588871-247588871 1:247425569-247425569
37 NLRP3 NM_004895.4(NLRP3):c.1820A>T (p.Glu607Val)SNV Uncertain significance 570991 rs745564372 1:247588565-247588565 1:247425263-247425263
38 NLRP3 NM_004895.4(NLRP3):c.2104G>A (p.Asp702Asn)SNV Uncertain significance 625986 rs781561828 1:247588849-247588849 1:247425547-247425547
39 NLRP12 NM_144687.3(NLRP12):c.2046A>G (p.Ala682=)SNV Uncertain significance 330027 rs886054608 19:54312867-54312867 19:53809613-53809613
40 NLRP12 NM_144687.3(NLRP12):c.289+13C>TSNV Uncertain significance 330046 rs776591533 19:54327127-54327127 19:53823873-53823873
41 NLRP12 NM_144687.3(NLRP12):c.654G>A (p.Ala218=)SNV Uncertain significance 330038 rs745766441 19:54314259-54314259 19:53811005-53811005
42 NLRP12 NM_144687.3(NLRP12):c.550G>A (p.Ala184Thr)SNV Uncertain significance 330042 rs766308091 19:54314363-54314363 19:53811109-53811109
43 NLRP12 NM_144687.3(NLRP12):c.136G>C (p.Gly46Arg)SNV Uncertain significance 330047 rs886054611 19:54327293-54327293 19:53824039-53824039
44 NLRP12 NM_144687.3(NLRP12):c.*395C>TSNV Uncertain significance 329985 rs886054604 19:54296908-54296908 19:53793654-53793654
45 NLRP12 NM_144687.3(NLRP12):c.3003C>T (p.Thr1001=)SNV Uncertain significance 330003 rs556001110 19:54299208-54299208 19:53795954-53795954
46 NLRP12 NM_144687.3(NLRP12):c.2244-14C>TSNV Uncertain significance 330023 rs866055657 19:54308718-54308718 19:53805464-53805464
47 NLRP12 NM_144687.3(NLRP12):c.2753T>C (p.Leu918Pro)SNV Uncertain significance 330012 rs777228735 19:54304484-54304484 19:53801230-53801230
48 NLRP12 NM_144687.3(NLRP12):c.1996T>C (p.Tyr666His)SNV Uncertain significance 330029 rs766112183 19:54312917-54312917 19:53809663-53809663
49 NLRP12 NM_144687.3(NLRP12):c.2493G>C (p.Glu831Asp)SNV Uncertain significance 330019 rs886054606 19:54307298-54307298 19:53804044-53804044
50 NLRP12 NM_144687.3(NLRP12):c.1420A>T (p.Ile474Phe)SNV Uncertain significance 330030 rs886054609 19:54313493-54313493 19:53810239-53810239

Expression for Familial Cold Autoinflammatory Syndrome

Search GEO for disease gene expression data for Familial Cold Autoinflammatory Syndrome.

Pathways for Familial Cold Autoinflammatory Syndrome

Pathways related to Familial Cold Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 SAA1 PYCARD PSTPIP1 PLCG2 NOD2 NLRP3
2
Show member pathways
13.31 SAA1 NOD2 IL1RN IL1RAP IL1R1 IL1B
3
Show member pathways
13 PYCARD NOD2 NLRP3 NLRP12 NLRP1 NLRC4
4
Show member pathways
12.78 PYCARD PLCG2 NLRP3 IL1B IL18 CASP1
5
Show member pathways
12.73 SAA1 PYCARD IL1B IL18 CASP1 AIM2
6
Show member pathways
12.55 NOD2 IL1RAP IL1R1 IL1B IL18
7 12.52 PLCG2 NLRP1 IL1RN IL1B AIM2
8
Show member pathways
12.31 NOD2 IL1RN IL1RAP IL1R1 IL1B CASP1
9 12.29 PYCARD NLRP3 IL1R1 IL1B IL18 CASP1
10 12.23 PYCARD PLCG2 NLRP3 NLRC4 IL1R1 IL1B
11
Show member pathways
12.21 IL1RN IL1RAP IL1R1 IL1B IL18
12
Show member pathways
12.19 PYCARD PLCG2 NLRP3 IL1B CASP1
13
Show member pathways
12.16 PYCARD NLRP3 IL1B CASP1
14
Show member pathways
12.02 IL1RAP IL1R1 IL1B IL18
15 11.96 PYCARD NLRP3 MEFV IL1B IL18 CASP1
16
Show member pathways
11.87 IL1R1 IL1B IL18
17
Show member pathways
11.87 PYCARD PSTPIP1 NOD2 NLRP3 NLRP1 NLRC4
18 11.82 PLCG2 IL1R1 IL1B
19 11.8 PYCARD NLRC4 IL1B IL18 CASP1
20 11.76 PYCARD NLRP3 IL1B CASP1
21 11.71 IL1R1 IL1B IL18
22 11.69 PYCARD PSTPIP1 NOD2 NLRP3 NLRP12 NLRP1
23 11.66 IL1RN IL1B IL18
24 11.59 PYCARD NLRC4 IL1B IL18 CASP1
25 11.54 IL1RN IL1R1 IL1B IL18
26 11.35 PYCARD NOD2 NLRP3 NLRP12 NLRP1 NLRC4
27 11.18 NLRP3 IL1R1 IL1B IL18
28 11.1 NLRP1 IL1B IL18 CASP1
29 10.56 IL1B IL18 CASP1

GO Terms for Familial Cold Autoinflammatory Syndrome

Cellular components related to Familial Cold Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.25 PYCARD PSTPIP1 NOD2 NLRP3 NLRP12 NLRP1
2 cytosol GO:0005829 10.13 PYCARD PSTPIP1 PLCG2 NOD2 NLRP3 NLRP1
3 inflammasome complex GO:0061702 9.37 NLRP3 NLRP1
4 NLRP3 inflammasome complex GO:0072559 9.33 PYCARD NLRP3 CASP1
5 IPAF inflammasome complex GO:0072557 9.26 NLRC4 CASP1
6 AIM2 inflammasome complex GO:0097169 9.13 PYCARD CASP1 AIM2
7 NLRP1 inflammasome complex GO:0072558 8.92 PYCARD NLRP1 CASP5 CASP1

Biological processes related to Familial Cold Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.27 PYCARD PSTPIP1 PLCG2 NLRP3 NLRP12 IL1RN
2 apoptotic process GO:0006915 10.15 PYCARD NLRP3 NLRP1 NLRC4 IL1B CASP5
3 immune response GO:0006955 10.11 IL1RN IL1RAP IL1R1 IL1B IL18 AIM2
4 immune system process GO:0002376 10.09 PYCARD PSTPIP1 NOD2 NLRP3 NLRP1 NLRC4
5 innate immune response GO:0045087 10.07 SAA1 PYCARD PSTPIP1 NOD2 NLRP3 NLRP1
6 regulation of apoptotic process GO:0042981 10.06 PYCARD NOD2 NLRP1 NLRC4 CASP5 CASP1
7 cytokine-mediated signaling pathway GO:0019221 10.01 SAA1 IL1RN IL1RAPL2 IL1RAP IL1R1 IL1B
8 negative regulation of inflammatory response GO:0050728 9.97 SAA1 NLRP3 NLRP12 MVK MEFV
9 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.96 NOD2 IL1RN IL1B CASP1
10 cellular response to lipopolysaccharide GO:0071222 9.95 PYCARD NOD2 NLRP3 IL1RN IL1B CASP1
11 interleukin-1-mediated signaling pathway GO:0070498 9.93 NOD2 IL1RN IL1RAP IL1R1 IL1B
12 positive regulation of JNK cascade GO:0046330 9.92 PYCARD NOD2 IL1RN IL1B
13 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.92 PYCARD NLRP3 NLRP12 AIM2
14 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.91 NOD2 NLRP12 IL1B IL18
15 positive regulation of interleukin-6 production GO:0032755 9.91 PYCARD NOD2 IL1RN IL1B
16 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.89 PYCARD NLRP3 NLRP1 CASP1
17 positive regulation of inflammatory response GO:0050729 9.88 NLRP12 IL1B IL18
18 neutrophil chemotaxis GO:0030593 9.87 SAA1 IL1RN IL1B
19 cellular response to mechanical stimulus GO:0071260 9.87 IL1B CASP5 CASP1
20 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.87 PYCARD NLRP3 NLRP12 NLRP1 NLRC4 CASP5
21 positive regulation of interferon-gamma production GO:0032729 9.86 PYCARD IL1R1 IL1B IL18
22 cellular response to organic cyclic compound GO:0071407 9.85 NOD2 IL1B IL18
23 positive regulation of interleukin-6 secretion GO:2000778 9.82 PYCARD IL1RAP IL1B
24 activation of innate immune response GO:0002218 9.8 PYCARD NLRC4 AIM2
25 regulation of inflammatory response GO:0050727 9.8 PYCARD NOD2 NLRP3 NLRP1 IL1R1 CASP5
26 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.77 PYCARD NLRP12 NLRC4
27 positive regulation of interleukin-1 beta production GO:0032731 9.76 PYCARD NOD2 CASP1 AIM2
28 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.76 PYCARD NOD2 NLRP3 NLRC4 IL1RAP IL1B
29 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.75 PYCARD MEFV AIM2
30 positive regulation of interleukin-17 production GO:0032740 9.71 NOD2 IL18
31 positive regulation of neuroinflammatory response GO:0150078 9.7 IL1B IL18
32 response to muramyl dipeptide GO:0032495 9.7 NOD2 NLRP1
33 positive regulation of T-helper 1 cell cytokine production GO:2000556 9.7 IL1R1 IL1B IL18
34 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.69 IL1B IL18
35 pyroptosis GO:0070269 9.69 NLRC4 AIM2
36 interleukin-1 beta production GO:0032611 9.69 PYCARD NLRP3 IL1B
37 interleukin-1 beta secretion GO:0050702 9.68 NLRC4 AIM2
38 positive regulation of interleukin-13 production GO:0032736 9.68 NLRP3 IL1RAP
39 detection of bacterium GO:0016045 9.68 NOD2 NLRC4
40 positive regulation of interleukin-5 production GO:0032754 9.67 NLRP3 IL1RAP
41 positive regulation of T-helper 2 cell differentiation GO:0045630 9.67 NLRP3 IL18
42 interleukin-6 production GO:0032635 9.67 IL1B IL18
43 cellular response to peptidoglycan GO:0071224 9.66 NOD2 NLRP3
44 positive regulation of type 2 immune response GO:0002830 9.65 NOD2 NLRP3
45 cytokine secretion involved in immune response GO:0002374 9.65 NOD2 NLRP3
46 interleukin-2 biosynthetic process GO:0042094 9.64 IL1RAP IL18
47 detection of biotic stimulus GO:0009595 9.64 NOD2 NLRP3
48 positive regulation of interleukin-1 beta secretion GO:0050718 9.5 PYCARD NOD2 NLRP3 NLRP12 NLRP1 CASP1
49 inflammatory response GO:0006954 9.4 PYCARD PSTPIP1 NLRP3 NLRP1 NLRC4 MEFV

Molecular functions related to Familial Cold Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 PYCARD PSTPIP1 PLCG2 NOD2 NLRP3 NLRP12
2 identical protein binding GO:0042802 9.97 PYCARD PSTPIP1 NLRP3 NLRC4 MVK MEFV
3 cysteine-type endopeptidase activity GO:0004197 9.61 PYCARD CASP5 CASP1
4 peptidoglycan binding GO:0042834 9.48 NOD2 NLRP3
5 CARD domain binding GO:0050700 9.46 NOD2 CASP1
6 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.43 PYCARD CASP5 CASP1
7 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.4 CASP5 CASP1
8 interleukin-1 receptor binding GO:0005149 9.33 IL1RN IL1RAP IL1B
9 interleukin-1 receptor activity GO:0004908 9.13 IL1RAPL2 IL1RAP IL1R1
10 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 8.92 PYCARD NLRP12 NLRP1 CASP1

Sources for Familial Cold Autoinflammatory Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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