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FCAS1
MCID: FML116
MIFTS: 57

Familial Cold Autoinflammatory Syndrome 1 (FCAS1)

Categories: Genetic diseases, Immune diseases, Bone diseases, Skin diseases, Rare diseases, Blood diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Familial Cold Autoinflammatory Syndrome 1

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MalaCards integrated aliases for Familial Cold Autoinflammatory Syndrome 1:

Name: Familial Cold Autoinflammatory Syndrome 1 57 12 75
Familial Cold Urticaria 75 29 6 73
Cold Hypersensitivity 57 75 55 73
Cold-Induced Autoinflammatory Syndrome, Familial 57 13
Cryopyrin-Associated Periodic Syndrome 1 57 75
Fcas1 57 75
Caps1 57 75
Fcas 57 75
Fcu 57 75
Autoinflammatory Syndrome, Cold, Familial, Type 1 40
Cryopyrin-Associated Periodic Syndrome 1; Caps1 57
Familial Cold-Induced Autoinflammatory Syndrome 75
Familial Cold-Induced Inflammatory Syndrome 1 57
Cold Urticaria, Familial; Fcu 57
Cold Urticaria, Familial 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood
episodes occur 30 minutes to 3 hours after exposure to cold
episodes usually last 1 to 2 days
see also muckle-wells syndrome , an allelic disorder with overlapping features


HPO:

32
familial cold autoinflammatory syndrome 1:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Bone diseases Skin diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33


Sources

Summaries for Familial Cold Autoinflammatory Syndrome 1

About this section
OMIM : 57 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 and Rusk, 1940) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis (Hoffman et al., 2000). Overlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2; 191900), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; 607115), which shows earlier onset and a more severe phenotype. (120100)

MalaCards based summary : Familial Cold Autoinflammatory Syndrome 1, also known as familial cold urticaria, is related to cryopyrin-associated periodic syndrome and familial cold autoinflammatory syndrome. An important gene associated with Familial Cold Autoinflammatory Syndrome 1 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 Citalopram and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and amygdala, and related phenotypes are hyperhidrosis and nausea and vomiting

Disease Ontology : 12 A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the NLRP gene on chromosome 1q44.

UniProtKB/Swiss-Prot : 75 Familial cold autoinflammatory syndrome 1: A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. Rarely, some patients may also develop late-onset renal amyloidosis.

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Related Diseases for Familial Cold Autoinflammatory Syndrome 1

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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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 cryopyrin-associated periodic syndrome 32.2 IL1R1 NLRP3
2 familial cold autoinflammatory syndrome 31.9 CASP1 IL1B NLRP3
3 cinca syndrome 29.1 CASP1 IL1B IL1R1 MEFV NLRP3
4 muckle-wells syndrome 27.6 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
5 familial cold autoinflammatory syndrome 2 10.9
6 familial cold autoinflammatory syndrome 3 10.9
7 psoriatic juvenile idiopathic arthritis 10.4 MEFV NLRP3
8 erysipeloid 10.4 MEFV NLRP3
9 pyoderma gangrenosum 10.3 MEFV NLRP3
10 tinea favosa 10.3 CASP1 NLRP3
11 systemic onset juvenile idiopathic arthritis 10.3 IL1B MEFV
12 hydrarthrosis 10.2 IL1B MEFV
13 pharyngitis 10.2 IL1B MEFV
14 silicosis 10.2 IL1B NLRP3
15 cold urticaria 10.2 IL1R1 NLRP3
16 pneumoconiosis 10.2 IL1B NLRP3
17 primary bacterial infectious disease 10.1 IL1B MEFV
18 bone inflammation disease 10.1 IL1B NLRP3
19 typhoid fever 10.1 CASP1 IL1B
20 salmonellosis 10.1 CASP1 IL1B
21 pyoderma 10.1 IL1R1 MEFV
22 hypersensitivity reaction disease 10.0 IL1B MEFV
23 osteomyelitis 10.0 CASP1 IL1B
24 joint disorders 10.0 IL1B IL1R1
25 chlamydia 10.0 CASP1 IL1B
26 peritonitis 10.0 IL1B MEFV
27 gout 10.0 IL1B NLRP3
28 chorioamnionitis 10.0 IL1B IL1R1
29 short-rib thoracic dysplasia 5 with or without polydactyly 9.9 NLRP3 TNFRSF1A
30 inflammatory myopathy with abundant macrophages 9.9 MEFV TNFRSF1A
31 intermittent hydrarthrosis 9.9 MEFV TNFRSF1A
32 idiopathic recurrent pericarditis 9.9 MEFV TNFRSF1A
33 conjunctival disease 9.9 NLRP3 TNFRSF1A
34 autoinflammation, lipodystrophy, and dermatosis syndrome 9.9 IL1B IL1R1
35 pericardial effusion 9.9 NLRP3 TNFRSF1A
36 relapsing fever 9.9 MEFV TNFRSF1A
37 immune system disease 9.9 IL1B MEFV
38 cervical adenitis 9.8 IL1B MEFV NLRP3
39 meningitis 9.8 IL1B NLRP3
40 blau syndrome 9.8 IL1B MEFV NLRP3
41 amyloidosis, familial visceral 9.8 MEFV TNFRSF1A
42 aphthous stomatitis 9.8 IL1B MEFV NLRP3
43 juvenile rheumatoid arthritis 9.8 IL1B IL1R1
44 pericoronitis 9.8 IL1B TNFRSF1A
45 chronic recurrent multifocal osteomyelitis 9.8 CASP1 IL1B NLRP3
46 rheumatic disease 9.8 IL1B IL1R1
47 post-transplant lymphoproliferative disease 9.7 IL1R1 TNFRSF1A
48 vulvar vestibulitis syndrome 9.6 IL1B IL1R1 NLRP3
49 schnitzler syndrome 9.6 IL1B IL1R1 NLRP3
50 aseptic meningitis 9.6 IL1B IL1R1 NLRP3

Graphical network of the top 20 diseases related to Familial Cold Autoinflammatory Syndrome 1:



Diseases related to Familial Cold Autoinflammatory Syndrome 1
Sources

Symptoms & Phenotypes for Familial Cold Autoinflammatory Syndrome 1

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
conjunctivitis

Skeletal:
arthralgia, episodic

Muscle Soft Tissue:
myalgia, episodic
swelling of the extremities, episodic

Metabolic Features:
fever, episodic

Genitourinary Kidneys:
renal amyloidosis, late-onset (uncommon)

Skin Nails Hair Skin:
maculopapular rash, episodic
rash may or may not be pruritic

Neurologic Central Nervous System:
headache, episodic

Laboratory Abnormalities:
polymorphonuclear leukocytosis, episodic
increased serum c-reactive protein, episodic


Clinical features from OMIM:

120100

Human phenotypes related to Familial Cold Autoinflammatory Syndrome 1:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 hallmark (90%) HP:0000975
2 nausea and vomiting 32 frequent (33%) HP:0002017
3 arthritis 32 hallmark (90%) HP:0001369
4 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
5 dehydration 32 occasional (7.5%) HP:0001944
6 fever 32 hallmark (90%) HP:0001945
7 polydipsia 32 occasional (7.5%) HP:0001959
8 fatigue 32 hallmark (90%) HP:0012378
9 arthralgia 32 occasional (7.5%) HP:0002829
10 abdominal pain 32 occasional (7.5%) HP:0002027
11 pruritus 32 hallmark (90%) HP:0000989
12 myalgia 32 hallmark (90%) HP:0003326
13 leukocytosis 32 HP:0001974
14 erythema 32 hallmark (90%) HP:0010783
15 conjunctivitis 32 occasional (7.5%) HP:0000509
16 urticaria 32 hallmark (90%) HP:0001025
17 headache 32 frequent (33%) HP:0002315
18 episodic fever 32 HP:0001954
19 dysesthesia 32 hallmark (90%) HP:0012534
20 renal amyloidosis 32 occasional (7.5%) HP:0001917

GenomeRNAi Phenotypes related to Familial Cold Autoinflammatory Syndrome 1 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 9.53 IL1B NLRP3 TNFRSF1A CASP1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 IL1B NLRP3 TNFRSF1A CASP1

MGI Mouse Phenotypes related to Familial Cold Autoinflammatory Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.93 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
2 homeostasis/metabolism MP:0005376 9.91 NLRP3 TNFRSF1A CASP1 IL1B IL1R1 MEFV
3 immune system MP:0005387 9.88 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
4 integument MP:0010771 9.85 IL1R1 MEFV NLRP3 TNFRSF1A CASP1 IL1B
5 mortality/aging MP:0010768 9.73 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
6 liver/biliary system MP:0005370 9.62 IL1R1 MEFV NLRP3 TNFRSF1A
7 neoplasm MP:0002006 9.46 CASP1 IL1B IL1R1 TNFRSF1A
8 renal/urinary system MP:0005367 9.26 CASP1 IL1R1 NLRP3 TNFRSF1A
9 skeleton MP:0005390 9.02 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
Sources

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome 1

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Drugs for Familial Cold Autoinflammatory Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-33-8 2771
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Norepinephrine Approved Phase 4 51-41-2 439260
4
Topiramate Approved Phase 4 97240-79-4 5284627
5
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
6
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
7 Complement C3 Phase 4
8 Retinol palmitate Phase 4
9 Analgesics Phase 4
10 Antidepressive Agents Phase 4
11 Antidepressive Agents, Second-Generation Phase 4
12 Dopamine Agents Phase 4
13 Duloxetine Hydrochloride Phase 4
14 Neurotransmitter Agents Phase 4
15 Neurotransmitter Uptake Inhibitors Phase 4
16 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
17 Psychotropic Drugs Phase 4
18 Serotonin Agents Phase 4
19 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
20 Serotonin Uptake Inhibitors Phase 4
21 CHI3L1 protein, human Phase 4
22 Anticonvulsants Phase 4
23 Anti-Obesity Agents Phase 4
24 Neuroprotective Agents Phase 4
25 Protective Agents Phase 4
26 Omega 3 Fatty Acid Nutraceutical Phase 4
27 retinol Nutraceutical Phase 4
28
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
29 Antibodies Phase 3
30 Antibodies, Monoclonal Phase 3
31 Immunoglobulins Phase 3
32 Vaccines Phase 3,Phase 1,Phase 2
33 Juzentaihoto Phase 2, Phase 3
34 Mitogens Phase 2, Phase 3
35
Pancrelipase Approved, Investigational Phase 1, Phase 2,Phase 2 53608-75-6
36
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
37
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
38
Oxaliplatin Approved, Investigational Phase 1, Phase 2 61825-94-3 5310940 9887054 43805 6857599
39
leucovorin Approved, Nutraceutical Phase 1, Phase 2 58-05-9 143 6006
40 pancreatin Phase 1, Phase 2,Phase 2
41 Interleukin 1 Receptor Antagonist Protein Phase 2,Phase 1
42 Anesthetics Phase 1, Phase 2
43 Anesthetics, Local Phase 1, Phase 2
44 Anti-Arrhythmia Agents Phase 1, Phase 2
45 Central Nervous System Depressants Phase 1, Phase 2
46 Diuretics, Potassium Sparing Phase 1, Phase 2
47 Pharmaceutical Solutions Phase 1, Phase 2
48 Sodium Channel Blockers Phase 1, Phase 2
49 Adjuvants, Immunologic Phase 2
50 Freund's Adjuvant Phase 2

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 The Impact of Omega-3 Supplementation on Gene Expression in Type 2 Diabetics Unknown status NCT01478776 Phase 4
2 The Effect of n-3 Fatty Acid Supplementation on Serum Levels, and Gene Expression of type2 Diabetes Patient Unknown status NCT02261545 Phase 4
3 Trial for Antidepressant Treatment for Negative Symptom of Schizophrenia With NRG1 Risk Genotype Unknown status NCT01078870 Phase 4 Lexapro;Cymbalta;Placebo
4 Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and Feet Completed NCT01664156 Phase 4 Korean red ginseng;Placebo
5 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
6 Assessing the Effects of Omega-3 Supplementation on Some Serum BDNF، Follistatin، Irisin Levels in Men With CAD Completed NCT02382471 Phase 4
7 Assessing the Effects of Omega-3 Supplementation on Serum HSP27, HSP70, YKL40, BMP-4 Levels in Male Patient With CAD Completed NCT02117960 Phase 4
8 Effect of Omega-3 Supplementation on Serum Level and Gene Expression of IGF-1and IGFBP-3 in Men With CVD. Completed NCT02092584 Phase 4
9 Placebo Controled Clinical Trial Using Topiramate To Treat Posttraumatic Stress Disorder (PTSD) Patients. Completed NCT00725920 Phase 4 Topiramate;placebo control group
10 Efficacy and Safety of ACZ885 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)
11 Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase Completed NCT00991146 Phase 3 canakinumab
12 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01576367 Phase 3
13 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01302860 Phase 3 ACZ885
14 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3 rilonacept 160 mg;Placebo;rilonacept 160 mg
15 The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada Completed NCT01105507 Phase 3 canakinumab (company code: ACZ885D)
16 Efficacy and Safety of Ojeok-san on Korean Patients With Cold Hypersensitivity in the Hands and Feet Recruiting NCT03083522 Phase 3 Ojeok-San;Placebo
17 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
18 A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies Active, not recruiting NCT02334748 Phase 3 canakinumab
19 Study of CAP1-6D in Patients With Locally Advanced or Surgically Resected Pancreatic Adenocarcinoma Completed NCT00203892 Phase 1, Phase 2
20 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2 IL-1 Trap
21 Lidocaine for Oxaliplatin-induced Neuropathy Recruiting NCT03254394 Phase 1, Phase 2 Lidocaine Hydrochloride;Placebo;FOLFOX regimen
22 Vaccine Therapy in Treating Patients With Cancer of the Gastrointestinal Tract Terminated NCT00012246 Phase 2
23 HL2351 CAPS Phase II Study Terminated NCT02853084 Phase 2 HL2351
24 A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome / Muckle-Wells Syndrome and Behcet's Disease Withdrawn NCT01211977 Phase 1, Phase 2 XOMA 052
25 The Use of Kineret (Anakinra) in the Treatment of Familial Cold Urticaria Completed NCT00214851 Phase 1 Kineret (anakinra)
26 Vaccine Therapy in Treating Patients With Refractory Stage IV Cancer Completed NCT00057915 Phase 1
27 Cold Plasma for Wound Treatment, Safety Study Recruiting NCT03007264 Phase 1
28 Vaccine Therapy With or Without Sargramostim in Treating Patients With Cancer Terminated NCT00009958 Phase 1
29 Efficacy of Yoga for Treatment-Resistant Posttraumatic Stress Disorder Unknown status NCT00839813 Not Applicable
30 The CAP-1 Trial: Stepwise Excavation Versus One Completed Excavation in Deep Caries Completed NCT00187837 Not Applicable
31 The CAP-2 Trial: Effect of Direct Pulp Capping Versus Partial Pulpotomy Completed NCT00187850 Not Applicable
32 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296
33 Simulation-based Training for Flexible Cystoscopy - a Patient Transfer Randomized Trial Completed NCT02411747 Not Applicable
34 Targeting Sympathetic Overactivity in Heart Failure Patients With Statins Completed NCT01097785 Not Applicable Simvastatin;Placebo
35 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641
36 Pathogenesis of Physical Induced Urticarial Syndromes Recruiting NCT00887939
37 Effect of Peer Mentoring and Blood Pressure Self-monitoring on Hypertension Control. Recruiting NCT03297229 Not Applicable
38 Chitosan Nerv Tube for Primary Repair of Traumatic Sensory Nerve Lesions of the Hand Recruiting NCT02372669 Not Applicable
39 Cochlear Implants Registry in Thailand Project Active, not recruiting NCT02830659
40 Does the Cap Increase the Finding of Polyps When Water Exchange Colonoscopy is Used Not yet recruiting NCT03566615 Not Applicable
41 Cap Assisted Balloon Enteroscopy Versus Conventional Balloon Enteroscopy In The Evaluation Of Obscure Gastrointestinal Bleeding: A Randomized Controlled Trial Terminated NCT02315404 Not Applicable
42 A Pilot Study of Deep Brain Stimulation of the Amygdala for Treatment-Refractory Combat Post-Traumatic Stress Disorder Withdrawn NCT01658748 Not Applicable

Search NIH Clinical Center for Familial Cold Autoinflammatory Syndrome 1

Sources

Genetic Tests for Familial Cold Autoinflammatory Syndrome 1

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Genetic tests related to Familial Cold Autoinflammatory Syndrome 1:

# Genetic test Affiliating Genes
1 Familial Cold Urticaria 29 NLRP3
Sources

Anatomical Context for Familial Cold Autoinflammatory Syndrome 1

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MalaCards organs/tissues related to Familial Cold Autoinflammatory Syndrome 1:

41
Brain, Heart, Amygdala
Sources

Publications for Familial Cold Autoinflammatory Syndrome 1

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Articles related to Familial Cold Autoinflammatory Syndrome 1:

# Title Authors Year
1
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. ( 11992256 )
2002
2
Identification of a locus on chromosome 1q44 for familial cold urticaria. ( 10741953 )
2000
3
Familial cold urticaria--a rare cause of lip swelling. ( 8274326 )
1993
4
Familial cold urticaria. ( 8403471 )
1993
Sources

Variations for Familial Cold Autoinflammatory Syndrome 1

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UniProtKB/Swiss-Prot genetic disease variations for Familial Cold Autoinflammatory Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 NLRP3 p.Val200Met VAR_013227 rs121908147
2 NLRP3 p.Ala441Val VAR_013229 rs121908146
3 NLRP3 p.Glu629Gly VAR_013230 rs121908148
4 NLRP3 p.Arg262Trp VAR_014104
5 NLRP3 p.Leu307Pro VAR_014124 rs180177431
6 NLRP3 p.Phe525Cys VAR_031853 rs180177478
7 NLRP3 p.Leu355Pro VAR_043685 rs28937896
8 NLRP3 p.Arg490Lys VAR_043689 rs145268073

ClinVar genetic disease variations for Familial Cold Autoinflammatory Syndrome 1:

6
(show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP3 NM_001243133.1(NLRP3): c.1316C> T (p.Ala439Val) single nucleotide variant Pathogenic rs121908146 GRCh37 Chromosome 1, 247588067: 247588067
2 NLRP3 NM_001243133.1(NLRP3): c.1316C> T (p.Ala439Val) single nucleotide variant Pathogenic rs121908146 GRCh38 Chromosome 1, 247424765: 247424765
3 NLRP3 NM_001243133.1(NLRP3): c.1880A> G (p.Glu627Gly) single nucleotide variant Pathogenic rs121908148 GRCh37 Chromosome 1, 247588631: 247588631
4 NLRP3 NM_001243133.1(NLRP3): c.1880A> G (p.Glu627Gly) single nucleotide variant Pathogenic rs121908148 GRCh38 Chromosome 1, 247425329: 247425329
5 NLRP3 NM_001243133.1(NLRP3): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs121908149 GRCh37 Chromosome 1, 247587806: 247587806
6 NLRP3 NM_001243133.1(NLRP3): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs121908149 GRCh38 Chromosome 1, 247424504: 247424504
7 NLRP3 NM_001243133.1(NLRP3): c.778C> T (p.Arg260Trp) single nucleotide variant Pathogenic rs121908150 GRCh37 Chromosome 1, 247587529: 247587529
8 NLRP3 NM_001243133.1(NLRP3): c.778C> T (p.Arg260Trp) single nucleotide variant Pathogenic rs121908150 GRCh38 Chromosome 1, 247424227: 247424227
9 NLRP3 NM_001243133.1(NLRP3): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs121908151 GRCh37 Chromosome 1, 247588456: 247588456
10 NLRP3 NM_001243133.1(NLRP3): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs121908151 GRCh38 Chromosome 1, 247425154: 247425154
11 NLRP3 NM_001243133.1(NLRP3): c.1718T> C (p.Phe573Ser) single nucleotide variant Pathogenic rs121908152 GRCh37 Chromosome 1, 247588469: 247588469
12 NLRP3 NM_001243133.1(NLRP3): c.1718T> C (p.Phe573Ser) single nucleotide variant Pathogenic rs121908152 GRCh38 Chromosome 1, 247425167: 247425167
13 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh37 Chromosome 1, 247587658: 247587658
14 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh38 Chromosome 1, 247424356: 247424356
15 NLRP3 NM_001243133.1(NLRP3): c.926T> C (p.Phe309Ser) single nucleotide variant Pathogenic rs121908154 GRCh37 Chromosome 1, 247587677: 247587677
16 NLRP3 NM_001243133.1(NLRP3): c.926T> C (p.Phe309Ser) single nucleotide variant Pathogenic rs121908154 GRCh38 Chromosome 1, 247424375: 247424375
17 NLRP3 NM_001243133.1(NLRP3): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs28937896 GRCh37 Chromosome 1, 247587809: 247587809
18 NLRP3 NM_001243133.1(NLRP3): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs28937896 GRCh38 Chromosome 1, 247424507: 247424507
19 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh37 Chromosome 1, 247587794: 247587794
20 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh38 Chromosome 1, 247424492: 247424492
21 NLRP3 NM_001243133.1(NLRP3): c.1213A> C (p.Thr405Pro) single nucleotide variant Pathogenic rs180177445 GRCh37 Chromosome 1, 247587964: 247587964
22 NLRP3 NM_001243133.1(NLRP3): c.1213A> C (p.Thr405Pro) single nucleotide variant Pathogenic rs180177445 GRCh38 Chromosome 1, 247424662: 247424662
23 NLRP3 NM_001243133.1(NLRP3): c.1306A> G (p.Thr436Ala) single nucleotide variant Likely pathogenic rs180177465 GRCh37 Chromosome 1, 247588057: 247588057
24 NLRP3 NM_001243133.1(NLRP3): c.1306A> G (p.Thr436Ala) single nucleotide variant Likely pathogenic rs180177465 GRCh38 Chromosome 1, 247424755: 247424755
25 NLRP3 NM_001243133.1(NLRP3): c.2576A> G (p.Tyr859Cys) single nucleotide variant Pathogenic rs180177452 GRCh37 Chromosome 1, 247599355: 247599355
26 NLRP3 NM_001243133.1(NLRP3): c.2576A> G (p.Tyr859Cys) single nucleotide variant Pathogenic rs180177452 GRCh38 Chromosome 1, 247436053: 247436053
27 NLRP3 NM_001243133.1(NLRP3): c.910G> A (p.Glu304Lys) single nucleotide variant Pathogenic rs180177484 GRCh37 Chromosome 1, 247587661: 247587661
28 NLRP3 NM_001243133.1(NLRP3): c.910G> A (p.Glu304Lys) single nucleotide variant Pathogenic rs180177484 GRCh38 Chromosome 1, 247424359: 247424359
29 NLRP3 NM_001243133.1(NLRP3): c.914T> C (p.Leu305Pro) single nucleotide variant Likely pathogenic rs180177431 GRCh37 Chromosome 1, 247587665: 247587665
30 NLRP3 NM_001243133.1(NLRP3): c.914T> C (p.Leu305Pro) single nucleotide variant Likely pathogenic rs180177431 GRCh38 Chromosome 1, 247424363: 247424363
31 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh37 Chromosome 1, 247592912: 247592912
32 NLRP3 NM_004895.4(NLRP3): c.2182A> G (p.Ser728Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147946775 GRCh38 Chromosome 1, 247429610: 247429610
Sources

Expression for Familial Cold Autoinflammatory Syndrome 1

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Search GEO for disease gene expression data for Familial Cold Autoinflammatory Syndrome 1.
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Pathways for Familial Cold Autoinflammatory Syndrome 1

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Pathways related to Familial Cold Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 13.66 CASP1 IL1B IL1R1 MEFV NLRP3 TNFRSF1A
2
Cytokine Signaling in Immune system 66
Show member pathways
 13.04 CASP1 IL1B IL1R1 TNFRSF1A
3
PAK Pathway 64
Show member pathways
 12.97 CASP1 IL1B IL1R1 TNFRSF1A
4
Toll-like Receptor Signaling Pathway 37 1
Show member pathways
 12.57 CASP1 IL1B MEFV NLRP3 TNFRSF1A
5
Apoptosis Modulation and Signaling 1
Show member pathways
 12.52 CASP1 IL1R1 TNFRSF1A
6
IL-2 Pathway 64
Show member pathways
 12.51 IL1B IL1R1 TNFRSF1A
7
Influenza A 37
Show member pathways
 12.51 CASP1 IL1B NLRP3 TNFRSF1A
8
MAPK signaling pathway 1 37
12.46 CASP1 IL1B IL1R1 TNFRSF1A
9
NF-KappaB Family Pathway 64
Show member pathways
 12.42 IL1B IL1R1 TNFRSF1A
10
4-1BB Pathway 64
Show member pathways
 12.37 IL1B IL1R1 TNFRSF1A
11
IL-1 signaling pathway 1
Show member pathways
 12.05 CASP1 IL1B IL1R1
12
TRAF Pathway 64
Show member pathways
 11.99 CASP1 IL1B IL1R1 TNFRSF1A
13
C-type lectin receptor signaling pathway 37
Show member pathways
 11.97 CASP1 IL1B NLRP3
14
Fluid shear stress and atherosclerosis 37
11.87 IL1B IL1R1 TNFRSF1A
15
Osteoclast differentiation 37
11.82 IL1B IL1R1 TNFRSF1A
16
Necroptosis 37
Show member pathways
 11.8 CASP1 IL1B NLRP3 TNFRSF1A
17
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways 66
Show member pathways
 11.75 CASP1 MEFV NLRP3
18
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.75 CASP1 IL1B IL1R1 TNFRSF1A
19
Hematopoietic cell lineage 37
11.65 IL1B IL1R1
20
Amoebiasis 37
11.64 IL1B IL1R1
21
NF-kappa B signaling pathway 37
11.61 IL1B IL1R1 TNFRSF1A
22
Salmonella infection (KEGG) 37
11.58 CASP1 IL1B
23
Innate Lymphoid Cell Differentiation Pathways 65
11.54 IL1B IL1R1
24
Pertussis 37
11.46 CASP1 IL1B NLRP3
25
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.43 IL1B TNFRSF1A
26
Legionellosis 37
11.36 CASP1 IL1B
27
Transcription_NF-kB signaling pathway 22
11.34 IL1R1 TNFRSF1A
28
Interleukin-10 signaling 66
11.23 IL1B IL1R1 TNFRSF1A
29
Monoamine Transport 1
Show member pathways
 11.22 IL1B IL1R1
30
Cellular roles of Anthrax toxin 1
10.92 CASP1 IL1B
31
Nucleotide-binding Oligomerization Domain (NOD) pathway 1
10.54 CASP1 IL1B MEFV NLRP3
32
IL1 and megakaryocytes in obesity 1
10.53 IL1B IL1R1 NLRP3
33
Interleukin-1 processing 66
10.32 CASP1 IL1B
Sources

GO Terms for Familial Cold Autoinflammatory Syndrome 1

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Cellular components related to Familial Cold Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.35 CASP1 IL1B IL1R1 NLRP3 TNFRSF1A
2 autophagosome GO:0005776 9.16 IL1B MEFV
3 NLRP3 inflammasome complex GO:0072559 8.62 CASP1 NLRP3

Biological processes related to Familial Cold Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.92 CASP1 IL1B IL1R1 NLRP3 TNFRSF1A
2 apoptotic process GO:0006915 9.76 CASP1 IL1B NLRP3 TNFRSF1A
3 immune response GO:0006955 9.75 IL1B IL1R1 TNFRSF1A
4 response to lipopolysaccharide GO:0032496 9.67 CASP1 IL1B TNFRSF1A
5 inflammatory response GO:0006954 9.62 IL1B MEFV NLRP3 TNFRSF1A
6 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.61 CASP1 IL1B TNFRSF1A
7 interleukin-1-mediated signaling pathway GO:0070498 9.59 IL1B IL1R1
8 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.58 CASP1 NLRP3
9 negative regulation of inflammatory response GO:0050728 9.58 MEFV NLRP3 TNFRSF1A
10 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.57 CASP1 NLRP3
11 cellular response to organic substance GO:0071310 9.56 CASP1 IL1B
12 response to bacterium GO:0009617 9.55 CASP1 NLRP3
13 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.54 IL1B NLRP3
14 positive regulation of interleukin-1 beta secretion GO:0050718 9.51 CASP1 NLRP3
15 response to ATP GO:0033198 9.48 CASP1 IL1B
16 regulation of inflammatory response GO:0050727 9.43 CASP1 IL1R1 NLRP3
17 regulation of establishment of endothelial barrier GO:1903140 9.37 IL1B TNFRSF1A
18 cellular response to mechanical stimulus GO:0071260 9.33 CASP1 IL1B TNFRSF1A
19 cytokine-mediated signaling pathway GO:0019221 9.26 CASP1 IL1B IL1R1 TNFRSF1A
20 interleukin-1 beta production GO:0032611 8.8 CASP1 IL1B NLRP3

Molecular functions related to Familial Cold Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.92 CASP1 MEFV NLRP3 TNFRSF1A
Sources

Sources for Familial Cold Autoinflammatory Syndrome 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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