FCAS1
MCID: FML116
MIFTS: 55

Familial Cold Autoinflammatory Syndrome 1 (FCAS1)

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

Aliases & Classifications for Familial Cold Autoinflammatory Syndrome 1

MalaCards integrated aliases for Familial Cold Autoinflammatory Syndrome 1:

Name: Familial Cold Autoinflammatory Syndrome 1 57 12 72 29 6 15
Cold Hypersensitivity 57 72 54 70
Cold-Induced Autoinflammatory Syndrome, Familial 57 13 6
Cryopyrin-Associated Periodic Syndrome 1 57 72
Familial Cold Inflammatory Syndrome 1 57 29
Familial Cold Urticaria 72 70
Fcas1 57 72
Caps1 57 72
Fcas 57 72
Fcu 57 72
Autoinflammatory Syndrome, Cold, Familial, Type 1 39
Cryopyrin-Associated Periodic Syndrome 1; Caps1 57
Familial Cold-Induced Autoinflammatory Syndrome 72
Cold Urticaria, Familial; Fcu 57
Cold Urticaria, Familial 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
familial cold autoinflammatory syndrome 1:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Familial Cold Autoinflammatory Syndrome 1

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) (Updated 05-Apr-2021)

MalaCards based summary : Familial Cold Autoinflammatory Syndrome 1, also known as cold hypersensitivity, 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 Salmonella infection (KEGG) and Toll-Like receptor Signaling Pathways. The drugs Ginseng and Rilonacept have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and brain, and related phenotypes are hyperhidrosis and arthritis

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 : 72 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.

Related Diseases for Familial Cold Autoinflammatory Syndrome 1

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 95)
# Related Disease Score Top Affiliating Genes
1 cryopyrin-associated periodic syndrome 31.6 NLRP3 IL1R1
2 familial cold autoinflammatory syndrome 31.6 NLRP3 MEFV IL1R1 CASP1
3 familial cold autoinflammatory syndrome 2 31.6 NLRP3 MEFV
4 cinca syndrome 31.4 NLRP3 MEFV IL1R1 CASP1
5 muckle-wells syndrome 30.9 NLRP3 MEFV IL1R1 CASP1
6 exanthem 30.2 NLRP3 MEFV
7 cold urticaria 30.0 NLRP3 IL1R1
8 wells syndrome 29.9 NLRP3 MEFV IL1R1
9 periodic fever, familial, autosomal dominant 29.7 NLRP3 MEFV CASP1
10 proteasome-associated autoinflammatory syndrome 1 29.5 NLRP3 MEFV IL1R1
11 familial mediterranean fever 29.3 NLRP3 MEFV IL1R1 CASP1
12 familial cold autoinflammatory syndrome 4 11.3
13 familial cold autoinflammatory syndrome 3 10.9
14 allergic disease 10.7
15 peripheral nervous system disease 10.3
16 neuropathy 10.3
17 psoriatic juvenile idiopathic arthritis 10.2 NLRP3 MEFV
18 hereditary periodic fever syndrome 10.2 NLRP3 MEFV
19 cervical adenitis 10.1 NLRP3 MEFV
20 chronic meningitis 10.1 NLRP3 MEFV
21 renal infectious disease 10.1 NLRP3 CASP1
22 amyloidosis 10.1
23 autoinflammatory syndrome 10.1
24 pharyngitis 10.1 NLRP3 MEFV
25 sebaceous gland disease 10.1 NLRP3 MEFV
26 hidradenitis 10.1 NLRP3 MEFV
27 vulvar vestibulitis syndrome 10.1 NLRP3 IL1R1
28 hidradenitis suppurativa 10.1 NLRP3 MEFV
29 streptococcus pneumonia 10.1 NLRP3 CASP1
30 colorectal cancer 10.1
31 indolent plasma cell myeloma 10.1 MEFV IL1R1
32 blau syndrome 10.1 NLRP3 MEFV
33 papilledema 10.1 NLRP3 IL1R1
34 peroxisomal disease 10.1 NLRP3 MEFV
35 sickle cell disease 10.1
36 raynaud phenomenon 10.1
37 aphthous stomatitis 10.0 NLRP3 MEFV
38 urticaria 10.0
39 stomatitis 10.0 NLRP3 MEFV
40 aseptic meningitis 10.0 NLRP3 IL1R1
41 paratyphoid fever 10.0 IL1R1 CASP1
42 typhoid fever 10.0 IL1R1 CASP1
43 silicosis 10.0 NLRP3 CASP1
44 branchiootic syndrome 1 10.0
45 hereditary angioedema 10.0
46 angioedema 10.0
47 arthropathy 10.0
48 chronic pain 10.0
49 salmonellosis 9.9 NLRP3 CASP1
50 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 9.9 NLRP3 MEFV CASP1

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



Diseases related to Familial Cold Autoinflammatory Syndrome 1

Symptoms & Phenotypes for Familial Cold Autoinflammatory Syndrome 1

Human phenotypes related to Familial Cold Autoinflammatory Syndrome 1:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 31 hallmark (90%) HP:0000975
2 arthritis 31 very rare (1%) HP:0001369
3 fatigue 31 hallmark (90%) HP:0012378
4 fever 31 very rare (1%) HP:0001945
5 myalgia 31 hallmark (90%) HP:0003326
6 erythema 31 hallmark (90%) HP:0010783
7 urticaria 31 very rare (1%) HP:0001025
8 pruritus 31 hallmark (90%) HP:0000989
9 dysesthesia 31 hallmark (90%) HP:0012534
10 nausea and vomiting 31 frequent (33%) HP:0002017
11 headache 31 frequent (33%) HP:0002315
12 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
13 dehydration 31 occasional (7.5%) HP:0001944
14 polydipsia 31 occasional (7.5%) HP:0001959
15 abdominal pain 31 occasional (7.5%) HP:0002027
16 arthralgia 31 very rare (1%) HP:0002829
17 conjunctivitis 31 very rare (1%) HP:0000509
18 uveitis 31 very rare (1%) HP:0000554
19 elevated c-reactive protein level 31 very rare (1%) HP:0011227
20 renal amyloidosis 31 very rare (1%) HP:0001917
21 aphthous ulcer 31 very rare (1%) HP:0032154
22 skin rash 31 HP:0000988
23 leukocytosis 31 HP:0001974
24 recurrent fever 31 HP:0001954
25 chills 31 HP:0025143

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 Decreased viability after Chlamydia trachomatis serovar L2 infection and TNF-alpha/CHX stimulation GR00206-A 8.8 MEFV NLRP14 NLRP5

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome 1

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

(show all 11)
# 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 Anti-Inflammatory Agents Phase 3
6 Psyllium Phase 2, Phase 3
7 Mitogens Phase 2, Phase 3
8 Juzentaihoto Phase 2, Phase 3
9 Antirheumatic Agents Phase 1
10 Interleukin 1 Receptor Antagonist Protein Phase 1
11 Pharmaceutical Solutions

Interventional clinical trials:


# 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 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 Completed NCT03083522 Phase 3 Ojeok-San;Placebo
4 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
5 Efficacy and Safety of Ucha-Shinki-Hwan on Korean Patients With Cold Hypersensitivity in the Hands and Feet-Double Blinded, Randomized, Multicenter, Placebo Controlled Clinical Trial Recruiting NCT03790033 Phase 2, Phase 3 Ucha-Shinki-Hwan;Placebo
6 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
7 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
8 The Use of Kineret (Anakinra) in the Treatment of Familial Cold Urticaria Completed NCT00214851 Phase 1 Kineret (anakinra)
9 Exploratory Evaluation of Family Caregiver Application (FCA) on Quality Among Persons With Lung Cancer and Their Family Caregivers Completed NCT03694054
10 CLINICAL UTILITY OF AXUMIN PET/MRI IMAGING TWO YEARS FOLLOWING FOCAL CRYO-ABLATION (FCA) OF PROSTATE CANCER Completed NCT04009083

Search NIH Clinical Center for Familial Cold Autoinflammatory Syndrome 1

Genetic Tests for Familial Cold Autoinflammatory Syndrome 1

Genetic tests related to Familial Cold Autoinflammatory Syndrome 1:

# Genetic test Affiliating Genes
1 Familial Cold Autoinflammatory Syndrome 1 29 NLRP3
2 Familial Cold Inflammatory Syndrome 1 29

Anatomical Context for Familial Cold Autoinflammatory Syndrome 1

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

40
Spinal Cord, Skin, Brain, Prostate, Dorsal Root Ganglion, Bone, Cortex

Publications for Familial Cold Autoinflammatory Syndrome 1

Articles related to Familial Cold Autoinflammatory Syndrome 1:

(show top 50) (show all 309)
# Title Authors PMID Year
1
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. 57 6
11687797 2001
2
An 'allergy' to cold. 57 6
447320 1979
3
Familial cold urticaria. 6 57
49161 1975
4
Cold hypersensitivity. 6 61
5173311 1971
5
Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. 6
12522564 2003
6
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. 6
11992256 2002
7
Identification of a locus on chromosome 1q44 for familial cold urticaria. 57
10741953 2000
8
Familial cold urticaria. 57
8403471 1993
9
Familial cold urticaria. Investigation of a family and response to stanozolol. 57
8447672 1993
10
Exploiting the cold-urticaria model. 57
6168913 1981
11
Idiopathic cold urticaria: in vitro demonstration of histamine release upon challenge of skin biopsies. 57
6168912 1981
12
Cold urticaria. Recognition and characterization of a neutrophil chemotactic factor which appears in serum during experimental cold challenge. 57
874083 1977
13
Cold urticaria: release into the circulation of histamine and eosinophil chemotactic factor of anaphylaxis during cold challenge. 57
55969 1976
14
Familial cold urticaria. Clinical findings. 57
4141601 1974
15
A kindred with familial cold urticaria: linkage analysis. 57
4855507 1974
16
Familial cold urticaria. 57
4682536 1973
17
Familial cold urticaria. 57
5029834 1972
18
Familial cold urticaria. A generalized reaction involving leukocytosis. 57
5797070 1969
19
Familial urticaria due to cold. 57
18110533 1948
20
Peripheral Nerve Resident Macrophages and Schwann Cells Mediate Cancer-induced Pain. 61
33771895 2021
21
Intensive Locomotor Training Provides Sustained Alleviation of Chronic Spinal Cord Injury-Associated Neuropathic Pain: A Two-Year Pre-Clinical Study. 61
33218293 2021
22
Targeting Peroxisome Proliferator-Activated Receptor-α (PPAR- α) to reduce paclitaxel-induced peripheral neuropathy. 61
33434562 2021
23
Effects of Chronic Oral Probiotic Treatment in Paclitaxel-Induced Neuropathic Pain. 61
33808052 2021
24
Kv4.3 Channel Dysfunction Contributes to Trigeminal Neuropathic Pain Manifested with Orofacial Cold Hypersensitivity in Rats. 61
33472822 2021
25
Glomus tumors of the upper extremity. 61
33588493 2021
26
Protective effects of the novel amine-oxidase inhibitor multi-target drug SZV 1287 on streptozotocin-induced beta cell damage and diabetic complications in rats. 61
33338750 2021
27
Aqueous extract from leaves of Doliocarpus dentatus (Aubl.) Standl. relieves pain without genotoxicity activity. 61
33022341 2021
28
Nociceptive afferent phenotyping reveals that transient receptor potential ankyrin 1 promotes cold pain through neurogenic inflammation upstream of the neurotrophic factor receptor GFRα3 and the menthol receptor transient receptor potential melastatin 8. 61
32826761 2021
29
Unilateral lower limb atrophy associated with glomus tumors: a case report. 61
33436045 2021
30
Wide-Range Measurement of Thermal Preference-A Novel Method for Detecting Analgesics Reducing Thermally-Evoked Pain in Mice. 61
33503911 2021
31
Targeting spinal neuropeptide Y1 receptor-expressing interneurons to alleviate chronic pain and itch. 61
32777329 2021
32
Glomuvenous Malformation of the Neck. 61
33268980 2020
33
Oxidative stress mediates thalidomide-induced pain by targeting peripheral TRPA1 and central TRPV4. 61
33317522 2020
34
A Fenofibrate Diet Prevents Paclitaxel-Induced Peripheral Neuropathy in Mice. 61
33383736 2020
35
The cool things to know about TRPM8! 61
33147416 2020
36
Highly functionalized β-lactams and 2-ketopiperazines as TRPM8 antagonists with antiallodynic activity. 61
32843690 2020
37
Painful pulp space of a pinky finger: A report of glomus tumor at an unusual site. 61
33110875 2020
38
Hypersensitivity to cold stimulation associated with regional osteoporotic changes in tail-suspended mice. 61
32020290 2020
39
Digital glomus tumor: An experience of 57 cases over 20 years. 61
33102323 2020
40
Multiple Glomus Tumors in the Left Foot of 41-year-old Woman. A Case Report. 61
32732446 2020
41
Efficacy and safety of Onkyeong-tang in treating cold hypersensitivity in the feet of Korean women: protocol for a double-blind, randomized, placebo-controlled, parallel-group, multicenter clinical study. 61
32423429 2020
42
Chronic morphine regulates TRPM8 channels via MOR-PKCβ signaling. 61
32290846 2020
43
Serotoninergic pain modulation from the rostral ventromedial medulla (RVM) in chemotherapy-induced neuropathy: The role of spinal 5-HT3 receptors. 61
31691396 2020
44
Pharmacologic Characterization of JNJ-42226314, [1-(4-Fluorophenyl)indol-5-yl]-[3-[4-(thiazole-2-carbonyl)piperazin-1-yl]azetidin-1-yl]methanone, a Reversible, Selective, and Potent Monoacylglycerol Lipase Inhibitor. 61
31818916 2020
45
Efficacy and safety of ucha-shinki-hwan on korean patients with cold hypersensitivity in the hands and feet: Study protocol clinical trial (SPIRIT Compliant). 61
32080084 2020
46
Effects of Capsinoids on Daily Physical Activity, Body Composition and Cold Hypersensitivity in Middle-Aged and Older Adults: A Randomized Study. 61
31947529 2020
47
Pharmacological inhibition of CXCR2 alleviates neuropathic pain by inactivating microglia in a rat L5 spinal nerve ligation model. 61
32774736 2020
48
[Roles of TRPA1 in Painful Dysesthesia]. 61
31902877 2020
49
Tumor Necrosis Factor-α Regulates the TRPA1 Expression in Human Odontoblast-Like Cells. 61
32753941 2020
50
Sepiapterin Reductase Inhibition Leading to Selective Reduction of Inflammatory Joint Pain in Mice and Increased Urinary Sepiapterin Levels in Humans and Mice. 61
31350812 2020

Variations for Familial Cold Autoinflammatory Syndrome 1

ClinVar genetic disease variations for Familial Cold Autoinflammatory Syndrome 1:

6 (show top 50) (show all 208)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NLRP3 NM_001243133.1(NLRP3):c.1880A>G (p.Glu627Gly) SNV Pathogenic 4372 rs121908148 GRCh37: 1:247588631-247588631
GRCh38: 1:247425329-247425329
2 NLRP3 NM_004895.4(NLRP3):c.1322C>T (p.Ala441Val) SNV Pathogenic 4370 rs121908146 GRCh37: 1:247588067-247588067
GRCh38: 1:247424765-247424765
3 NLRP3 NM_004895.4(NLRP3):c.784C>T (p.Arg262Trp) SNV Pathogenic 4374 rs121908150 GRCh37: 1:247587529-247587529
GRCh38: 1:247424227-247424227
4 NLRP3 NM_004895.4(NLRP3):c.1064T>C (p.Leu355Pro) SNV Pathogenic 4379 rs28937896 GRCh37: 1:247587809-247587809
GRCh38: 1:247424507-247424507
5 NLRP3 NM_004895.4(NLRP3):c.1064T>C (p.Leu355Pro) SNV Pathogenic 4379 rs28937896 GRCh37: 1:247587809-247587809
GRCh38: 1:247424507-247424507
6 NLRP3 NM_004895.4(NLRP3):c.598G>A (p.Val200Met) SNV Conflicting interpretations of pathogenicity 4371 rs121908147 GRCh37: 1:247587343-247587343
GRCh38: 1:247424041-247424041
7 NLRP3 NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly) SNV Conflicting interpretations of pathogenicity 234290 rs147946775 GRCh37: 1:247592912-247592912
GRCh38: 1:247429610-247429610
8 NLRP3 NM_004895.4(NLRP3):c.2790A>C (p.Lys930Asn) SNV Uncertain significance 234307 rs876660975 GRCh37: 1:247607394-247607394
GRCh38: 1:247444092-247444092
9 NLRP3 NM_004895.4(NLRP3):c.598G>A (p.Val200Met) SNV Uncertain significance 4371 rs121908147 GRCh37: 1:247587343-247587343
GRCh38: 1:247424041-247424041
10 NLRP3 NM_004895.4(NLRP3):c.680C>T (p.Ala227Val) SNV Uncertain significance 97966 rs180177493 GRCh37: 1:247587425-247587425
GRCh38: 1:247424123-247424123
11 NLRP3 NM_004895.4(NLRP3):c.2767A>G (p.Thr923Ala) SNV Uncertain significance 234451 rs200089542 GRCh37: 1:247607371-247607371
GRCh38: 1:247444069-247444069
12 NLRP3 NM_004895.4(NLRP3):c.3043A>G (p.Lys1015Glu) SNV Uncertain significance 234308 rs771315000 GRCh37: 1:247611738-247611738
GRCh38: 1:247448436-247448436
13 NLRP3 NC_000001.11:g.247448935G>A SNV Uncertain significance 877015 GRCh37: 1:247612237-247612237
GRCh38: 1:247448935-247448935
14 NLRP3 NM_004895.4(NLRP3):c.3054A>C (p.Leu1018Phe) SNV Uncertain significance 711518 rs143548979 GRCh37: 1:247611749-247611749
GRCh38: 1:247448447-247448447
15 NLRP3 NM_004895.4(NLRP3):c.2511C>T (p.Cys837=) SNV Uncertain significance 706519 rs1351993448 GRCh37: 1:247599284-247599284
GRCh38: 1:247435982-247435982
16 NLRP3 NM_001243133.2(NLRP3):c.565G>A (p.Gly189Ser) SNV Uncertain significance 873944 GRCh37: 1:247587316-247587316
GRCh38: 1:247424014-247424014
17 NLRP3 NM_001243133.2(NLRP3):c.964A>G (p.Lys322Glu) SNV Uncertain significance 876817 GRCh37: 1:247587715-247587715
GRCh38: 1:247424413-247424413
18 NLRP3 NM_004895.4(NLRP3):c.749A>G (p.Gln250Arg) SNV Uncertain significance 234298 rs876660971 GRCh37: 1:247587494-247587494
GRCh38: 1:247424192-247424192
19 NLRP3 NM_004895.4(NLRP3):c.-116T>C SNV Uncertain significance 296934 rs202234129 GRCh37: 1:247581981-247581981
GRCh38: 1:247418679-247418679
20 NLRP3 NM_004895.4(NLRP3):c.-68G>A SNV Uncertain significance 296935 rs202076321 GRCh37: 1:247582029-247582029
GRCh38: 1:247418727-247418727
21 NLRP3 NM_004895.4(NLRP3):c.3048T>C (p.Ser1016=) SNV Uncertain significance 296954 rs1057515489 GRCh37: 1:247611743-247611743
GRCh38: 1:247448441-247448441
22 NLRP3 NM_004895.4(NLRP3):c.-197G>A SNV Uncertain significance 296933 rs1042817230 GRCh37: 1:247581900-247581900
GRCh38: 1:247418598-247418598
23 NLRP3 NM_004895.4(NLRP3):c.*324_*327del Deletion Uncertain significance 296957 rs886506882 GRCh37: 1:247612127-247612130
GRCh38: 1:247448825-247448828
24 NLRP3 NM_004895.4(NLRP3):c.34A>C (p.Arg12=) SNV Uncertain significance 296938 rs1057515531 GRCh37: 1:247582130-247582130
GRCh38: 1:247418828-247418828
25 NLRP3 NM_004895.4(NLRP3):c.-476dup Duplication Uncertain significance 296930 rs144128307 GRCh37: 1:247581609-247581610
GRCh38: 1:247418307-247418308
26 NLRP3 NM_004895.4(NLRP3):c.*604A>C SNV Uncertain significance 296962 rs1057515532 GRCh37: 1:247612410-247612410
GRCh38: 1:247449108-247449108
27 NLRP3 NM_004895.4(NLRP3):c.-454G>A SNV Uncertain significance 103034 rs199475727 GRCh37: 1:247581643-247581643
GRCh38: 1:247418341-247418341
28 NLRP3 NM_004895.4(NLRP3):c.-527C>G SNV Uncertain significance 296928 rs141994679 GRCh37: 1:247581570-247581570
GRCh38: 1:247418268-247418268
29 NLRP3 NM_004895.4(NLRP3):c.-679G>A SNV Uncertain significance 296924 rs768557674 GRCh37: 1:247581418-247581418
GRCh38: 1:247418116-247418116
30 NLRP3 NM_004895.4(NLRP3):c.-62C>T SNV Uncertain significance 296936 rs201758466 GRCh37: 1:247582035-247582035
GRCh38: 1:247418733-247418733
31 NLRP3 NM_004895.4(NLRP3):c.2638A>G (p.Lys880Glu) SNV Uncertain significance 296953 rs1057515488 GRCh37: 1:247599411-247599411
GRCh38: 1:247436109-247436109
32 NLRP3 NM_004895.4(NLRP3):c.-623C>T SNV Uncertain significance 296925 rs200090360 GRCh37: 1:247581474-247581474
GRCh38: 1:247418172-247418172
33 NLRP3 NM_004895.4(NLRP3):c.-704C>T SNV Uncertain significance 296923 rs199723383 GRCh37: 1:247581393-247581393
GRCh38: 1:247418091-247418091
34 NLRP3 NM_004895.4(NLRP3):c.*328_*331del Deletion Uncertain significance 296958 rs1057515460 GRCh37: 1:247612132-247612135
GRCh38: 1:247448830-247448833
35 NLRP3 NM_004895.4(NLRP3):c.2126C>A (p.Pro709Gln) SNV Uncertain significance 583341 rs200378519 GRCh37: 1:247588871-247588871
GRCh38: 1:247425569-247425569
36 NLRP3 NM_004895.4(NLRP3):c.2104G>A (p.Asp702Asn) SNV Uncertain significance 625986 rs781561828 GRCh37: 1:247588849-247588849
GRCh38: 1:247425547-247425547
37 NLRP3 NM_004895.4(NLRP3):c.1645A>T (p.Ser549Cys) SNV Uncertain significance 536887 rs139833874 GRCh37: 1:247588390-247588390
GRCh38: 1:247425088-247425088
38 NLRP3 NM_004895.4(NLRP3):c.1820A>T (p.Glu607Val) SNV Uncertain significance 570991 rs745564372 GRCh37: 1:247588565-247588565
GRCh38: 1:247425263-247425263
39 NLRP3 NM_001243133.2(NLRP3):c.2834+1G>A SNV Uncertain significance 827985 rs1572228102 GRCh37: 1:247607445-247607445
GRCh38: 1:247444143-247444143
40 NLRP3 NM_001243133.2(NLRP3):c.-219G>A SNV Uncertain significance 873837 GRCh37: 1:247581884-247581884
GRCh38: 1:247418582-247418582
41 NLRP3 NM_001243133.2(NLRP3):c.234G>A (p.Arg78=) SNV Uncertain significance 873888 GRCh37: 1:247582336-247582336
GRCh38: 1:247419034-247419034
42 NLRP3 NM_001243133.2(NLRP3):c.2255G>A (p.Gly752Glu) SNV Uncertain significance 874123 GRCh37: 1:247592991-247592991
GRCh38: 1:247429689-247429689
43 NLRP3 NM_001243133.2(NLRP3):c.*2A>G SNV Uncertain significance 874174 GRCh37: 1:247611808-247611808
GRCh38: 1:247448506-247448506
44 NLRP3 NM_001243133.2(NLRP3):c.-523G>A SNV Uncertain significance 874739 GRCh37: 1:247581580-247581580
GRCh38: 1:247418278-247418278
45 NLRP3 NM_001243133.2(NLRP3):c.292C>G (p.Arg98Gly) SNV Uncertain significance 874838 GRCh37: 1:247586546-247586546
GRCh38: 1:247423244-247423244
46 NLRP3 NM_001243133.2(NLRP3):c.1780T>C (p.Leu594=) SNV Uncertain significance 874999 GRCh37: 1:247588531-247588531
GRCh38: 1:247425229-247425229
47 NLRP3 NM_001243133.2(NLRP3):c.*139T>G SNV Uncertain significance 875106 GRCh37: 1:247611945-247611945
GRCh38: 1:247448643-247448643
48 NLRP3 NM_001243133.2(NLRP3):c.-407C>T SNV Uncertain significance 875680 GRCh37: 1:247581696-247581696
GRCh38: 1:247418394-247418394
49 NLRP3 NC_000001.11:g.247448882A>C SNV Uncertain significance 876055 GRCh37: 1:247612184-247612184
GRCh38: 1:247448882-247448882
50 NLRP3 NM_001243133.2(NLRP3):c.-686C>T SNV Uncertain significance 876633 GRCh37: 1:247581417-247581417
GRCh38: 1:247418115-247418115

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

72
# 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 rs121908150
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

Expression for Familial Cold Autoinflammatory Syndrome 1

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

Pathways for Familial Cold Autoinflammatory Syndrome 1

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 NLRP3 IL1R1 CASP1
2
Show member pathways
12.21 NLRP3 IL1R1 CASP1
3 11.94 NLRP3 IL1R1 CASP1
4 11.69 NLRP3 MEFV CASP1
5 11.47 NLRP3 MEFV CASP1
6 11.34 NLRP3 CASP1
7
Show member pathways
11.19 NLRP3 MEFV CASP1
8 10.72 NLRP3 IL1R1
9 10.41 NLRP3 MEFV CASP1

GO Terms for Familial Cold Autoinflammatory Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 NLRP3 inflammasome complex GO:0072559 8.62 NLRP3 CASP1

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

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.43 NLRP3 MEFV IL1R1
2 regulation of inflammatory response GO:0050727 9.32 IL1R1 CASP1
3 positive regulation of interleukin-1 beta production GO:0032731 9.16 NLRP3 CASP1
4 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 8.96 NLRP3 CASP1
5 negative regulation of interleukin-1 beta production GO:0032691 8.62 NLRP3 MEFV

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 8.92 NLRP5 NLRP3 NLRP14 NLRP13

Sources for Familial Cold Autoinflammatory Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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