FCU
MCID: FML052
MIFTS: 53

Familial Cold Autoinflammatory Syndrome (FCU)

Categories: Blood diseases, Bone 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 53 25 59 37 29 6 15
Familial Cold Urticaria 53 25 59 29 6 73
Fcas 53 25 59
Cold Hypersensitivity 25 73
Fcu 25 59
Familial Cold-Induced Autoinflammatory Syndrome 25
Familial Polymorphous Cold Eruption 53

Characteristics:

Orphanet epidemiological data:

59
familial cold urticaria
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0090061
ICD10 33 L50.2
Orphanet 59 ORPHA47045
UMLS via Orphanet 74 C0343068
KEGG 37 H02159

Summaries for Familial Cold Autoinflammatory Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Familial Cold Autoinflammatory Syndrome, also known as familial cold urticaria, is related to familial cold autoinflammatory syndrome 2 and familial cold autoinflammatory syndrome 4. 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 Toll-like Receptor Signaling Pathway. The drugs Ginseng and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are hyperhidrosis and nausea and vomiting

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.

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.

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 55)
# Related Disease Score Top Affiliating Genes
1 familial cold autoinflammatory syndrome 2 34.4 NLRP3 NLRP12
2 familial cold autoinflammatory syndrome 4 34.2 SLC30A6 NLRC4
3 familial cold autoinflammatory syndrome 1 33.9 CASP1 IL1B NLRP3
4 cold urticaria 32.6 PLCG2 NLRP3
5 wells syndrome 30.2 NLRP3 IL1B
6 muckle-wells syndrome 29.9 NLRP3 IL1B CASP1
7 familial mediterranean fever 29.6 CASP1 IL1B NLRP3 SAA1
8 familial cold autoinflammatory syndrome 3 12.7
9 cryopyrin-associated periodic syndrome 11.2
10 urticaria 10.5
11 allergic hypersensitivity disease 10.3
12 autoinflammation with infantile enterocolitis 10.1 SLC30A6 NLRC4
13 enterocolitis 10.1 SLC30A6 NLRC4
14 vulvar vestibulitis syndrome 10.1 NLRP3 IL1B
15 cervical adenitis 10.1 NLRP3 IL1B
16 inclusion body myositis 10.1
17 myositis 10.1
18 blau syndrome 10.1 NLRP3 IL1B
19 aseptic meningitis 10.1 NLRP3 IL1B
20 tinea favosa 10.1 NLRP3 CASP1
21 aphthous stomatitis 10.1 NLRP3 IL1B
22 alzheimer disease 10.0
23 periodic fever, familial, autosomal dominant 10.0
24 silicosis 10.0 IL1B NLRP3
25 amyloidosis 10.0
26 sickle cell disease 10.0
27 pneumoconiosis 10.0 IL1B NLRP3
28 typhoid fever 9.9 CASP1 IL1B
29 bone inflammation disease 9.9 IL1B NLRP3
30 uremic pruritus 9.9 IL1B IL18
31 arthropathy 9.9
32 stachybotrys chartarum 9.9 IL1B IL18
33 autoinflammation with arthritis and dyskeratosis 9.9 IL18 CASP1
34 cysticercosis 9.9 IL1B IL18
35 chronic recurrent multifocal osteomyelitis 9.9 NLRP3 IL1B CASP1
36 adult-onset still's disease 9.9 IL1B IL18
37 brucellosis 9.9 IL18 SAA1
38 legionellosis 9.9 NLRC4 IL1B CASP1
39 extrinsic allergic alveolitis 9.8 IL18 IL1B
40 schnitzler syndrome 9.8 NLRP3 IL1B IL18
41 lymphadenitis 9.8 IL18 IL1B
42 mononeuropathy 9.8
43 eclampsia 9.8
44 dyspepsia 9.8
45 peripheral nervous system disease 9.8
46 neuropathy 9.8
47 depression 9.8
48 pulmonary fibrosis, idiopathic 9.8 NLRC4 IL1B IL18
49 chlamydia 9.8 CASP1 IL1B
50 cinca syndrome 9.7 CASP1 IL1B NLRC4 NLRP3

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:

59 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 Very frequent (99-80%)
2 nausea and vomiting 59 Frequent (79-30%)
3 arthritis 59 Very frequent (99-80%)
4 sensorineural hearing impairment 59 Occasional (29-5%)
5 dehydration 59 Occasional (29-5%)
6 fever 59 Very frequent (99-80%)
7 polydipsia 59 Occasional (29-5%)
8 fatigue 59 Very frequent (99-80%)
9 arthralgia 59 Occasional (29-5%)
10 abdominal pain 59 Occasional (29-5%)
11 pruritus 59 Very frequent (99-80%)
12 myalgia 59 Very frequent (99-80%)
13 erythema 59 Very frequent (99-80%)
14 conjunctivitis 59 Occasional (29-5%)
15 urticaria 59 Very frequent (99-80%)
16 headache 59 Frequent (79-30%)
17 dysesthesia 59 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 9.28 CASP1 IL18 IL1B NLRP3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.28 CASP1 IL18 IL1B NLRC4 NLRP3

MGI Mouse Phenotypes related to Familial Cold Autoinflammatory Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.8 CASP1 IL18 IL1B NLRC4 NLRP12 NLRP3
2 homeostasis/metabolism MP:0005376 9.7 CASP1 IL18 IL1B NLRP12 NLRP3 PLCG2
3 immune system MP:0005387 9.5 CASP1 IL18 IL1B NLRC4 NLRP12 NLRP3
4 integument MP:0010771 9.02 CASP1 IL18 IL1B NLRP3 PLCG2

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
2 Antibodies, Monoclonal Phase 3
3 Antibodies Phase 3
4 Immunologic Factors Phase 3
5 Immunoglobulins Phase 3
6 Vaccines Phase 3
7 Mitogens Phase 2, Phase 3
8 Juzentaihoto Phase 2, Phase 3
9
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
10
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
11
Oxaliplatin Approved, Investigational Phase 1, Phase 2 61825-94-3 43805 6857599 5310940 9887054
12
leucovorin Approved Phase 1, Phase 2 58-05-9 6006 143
13 Interleukin 1 Receptor Antagonist Protein Phase 2,Phase 1
14 Anti-Arrhythmia Agents Phase 1, Phase 2
15 Anesthetics, Local Phase 1, Phase 2
16 Central Nervous System Depressants Phase 1, Phase 2
17 Diuretics, Potassium Sparing Phase 1, Phase 2
18 Peripheral Nervous System Agents Phase 1, Phase 2
19 Sodium Channel Blockers Phase 1, Phase 2
20 Anesthetics Phase 1, Phase 2
21 Pharmaceutical Solutions Phase 1, Phase 2
22 Antirheumatic Agents Phase 1
23
Chitosan Approved Not Applicable 9012-76-4 71853
24 Anticholesteremic Agents Not Applicable
25 Antimetabolites Not Applicable
26 Coagulants Not Applicable
27 Lipid Regulating Agents Not Applicable
28 Chelating Agents Not Applicable
29 Hypolipidemic Agents Not Applicable
30 Hemostatics Not Applicable

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and Feet Completed NCT01664156 Phase 4 Korean red ginseng;Placebo
2 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
3 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)
4 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
5 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
6 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
7 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3 rilonacept 160 mg;Placebo;rilonacept 160 mg
8 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)
9 A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies Completed NCT02334748 Phase 3 canakinumab
10 Efficacy and Safety of Ojeok-san on Korean Patients With Cold Hypersensitivity in the Hands and Feet Recruiting NCT03083522 Phase 3 Ojeok-San;Placebo
11 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
12 Efficacy and Safety of Ucha-Shinki-Hwan on Korean Patients With Cold Hypersensitivity in the Hands and Feet (UCHA) Not yet recruiting NCT03790033 Phase 2, Phase 3 Ucha-Shinki-Hwan;Placebo
13 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2 IL-1 Trap
14 Lidocaine for Oxaliplatin-induced Neuropathy Recruiting NCT03254394 Phase 1, Phase 2 Lidocaine Hydrochloride;Placebo;FOLFOX regimen
15 HL2351 CAPS Phase II Study Terminated NCT02853084 Phase 2 HL2351
16 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
17 The Use of Kineret (Anakinra) in the Treatment of Familial Cold Urticaria Completed NCT00214851 Phase 1 Kineret (anakinra)
18 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296
19 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641
20 Pathogenesis of Physical Induced Urticarial Syndromes Recruiting NCT00887939
21 Chitosan Nerv Tube for Primary Repair of Traumatic Sensory Nerve Lesions of the Hand Recruiting NCT02372669 Not Applicable

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 Urticaria 29 NLRP3
2 Familial Cold Autoinflammatory Syndrome 29

Anatomical Context for Familial Cold Autoinflammatory Syndrome

MalaCards organs/tissues related to Familial Cold Autoinflammatory Syndrome:

41
Skin, Eye, Bone, Monocytes

Publications for Familial Cold Autoinflammatory Syndrome

Articles related to Familial Cold Autoinflammatory Syndrome:

(show all 32)
# Title Authors Year
1
Clinical and Genetic Features of Familial Cold Urticaria: A Report of Three Families. ( 30246732 )
2018
2
An unusual urticarial eruption: Familial cold autoinflammatory syndrome. ( 26115477 )
2015
3
Withdrawn: An unusual urticarial eruption: familial cold autoinflammatory syndrome. ( 25988551 )
2015
4
First report of keratitis in familial cold autoinflammatory syndrome. ( 24862780 )
2014
5
"Mutation negative" familial cold autoinflammatory syndrome (FCAS) in an 8-year-old boy: clinical course and functional studies. ( 21833523 )
2012
6
Interleukin-17 expression in the urticarial rash of familial cold autoinflammatory syndrome: a case report. ( 20716212 )
2010
7
[Fever from the cold--familial cold autoinflammatory syndrome]. ( 19385344 )
2009
8
Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra. ( 18189199 )
2008
9
A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome. ( 18668591 )
2008
10
Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up. ( 18258152 )
2008
11
A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome. ( 17333269 )
2008
12
Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia. ( 17320940 )
2007
13
Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. ( 17300660 )
2007
14
Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist. ( 17336710 )
2007
15
A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin. ( 17284928 )
2007
16
Anakinra prevents symptoms of familial cold autoinflammatory syndrome and Raynaud's disease. ( 16981288 )
2006
17
IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients. ( 16081838 )
2005
18
A case of familial cold autoinflammatory syndrome confirmed by the presence of a CIAS1 mutation. ( 15149524 )
2004
19
Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. ( 15541451 )
2004
20
A large kindred with familial cold autoinflammatory syndrome. ( 12602672 )
2003
21
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. ( 11992256 )
2002
22
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. ( 11687797 )
2001
23
Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. ( 11590390 )
2001
24
Familial cold urticaria: a father and daughter with typical clinical and laboratory features. ( 7719887 )
1995
25
Familial cold urticaria. Investigation of a family and response to stanozolol. ( 8447672 )
1993
26
Arthropathy associated with familial cold urticaria. ( 841433 )
1977
27
Familial cold urticaria. ( 49161 )
1975
28
Familial cold urticaria. Clinical findings. ( 4141601 )
1974
29
A kindred with familial cold urticaria: linkage analysis. ( 4855507 )
1974
30
Familial cold urticaria. ( 4682536 )
1973
31
Familial cold urticaria. ( 5029834 )
1972
32
Familial cold urticaria. A generalized reaction involving leukocytosis. ( 5797070 )
1969

Variations for Familial Cold Autoinflammatory Syndrome

ClinVar genetic disease variations for Familial Cold Autoinflammatory Syndrome:

6 (show top 50) (show all 473)
# 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.592G> A (p.Val198Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121908147 GRCh37 Chromosome 1, 247587343: 247587343
4 NLRP3 NM_001243133.1(NLRP3): c.592G> A (p.Val198Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121908147 GRCh38 Chromosome 1, 247424041: 247424041
5 NLRP3 NM_001243133.1(NLRP3): c.1880A> G (p.Glu627Gly) single nucleotide variant Pathogenic rs121908148 GRCh37 Chromosome 1, 247588631: 247588631
6 NLRP3 NM_001243133.1(NLRP3): c.1880A> G (p.Glu627Gly) single nucleotide variant Pathogenic rs121908148 GRCh38 Chromosome 1, 247425329: 247425329
7 NLRP3 NM_001243133.1(NLRP3): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs121908149 GRCh37 Chromosome 1, 247587806: 247587806
8 NLRP3 NM_001243133.1(NLRP3): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs121908149 GRCh38 Chromosome 1, 247424504: 247424504
9 NLRP3 NM_001243133.1(NLRP3): c.778C> T (p.Arg260Trp) single nucleotide variant Pathogenic rs121908150 GRCh37 Chromosome 1, 247587529: 247587529
10 NLRP3 NM_001243133.1(NLRP3): c.778C> T (p.Arg260Trp) single nucleotide variant Pathogenic rs121908150 GRCh38 Chromosome 1, 247424227: 247424227
11 NLRP3 NM_001243133.1(NLRP3): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs121908151 GRCh37 Chromosome 1, 247588456: 247588456
12 NLRP3 NM_001243133.1(NLRP3): c.1705G> C (p.Gly569Arg) single nucleotide variant Pathogenic rs121908151 GRCh38 Chromosome 1, 247425154: 247425154
13 NLRP3 NM_001243133.1(NLRP3): c.1718T> C (p.Phe573Ser) single nucleotide variant Pathogenic rs121908152 GRCh37 Chromosome 1, 247588469: 247588469
14 NLRP3 NM_001243133.1(NLRP3): c.1718T> C (p.Phe573Ser) single nucleotide variant Pathogenic rs121908152 GRCh38 Chromosome 1, 247425167: 247425167
15 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh37 Chromosome 1, 247587658: 247587658
16 NLRP3 NM_001243133.1(NLRP3): c.907G> A (p.Asp303Asn) single nucleotide variant Pathogenic rs121908153 GRCh38 Chromosome 1, 247424356: 247424356
17 NLRP3 NM_001243133.1(NLRP3): c.926T> C (p.Phe309Ser) single nucleotide variant Pathogenic rs121908154 GRCh37 Chromosome 1, 247587677: 247587677
18 NLRP3 NM_001243133.1(NLRP3): c.926T> C (p.Phe309Ser) single nucleotide variant Pathogenic rs121908154 GRCh38 Chromosome 1, 247424375: 247424375
19 NLRP3 NM_001243133.1(NLRP3): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs28937896 GRCh37 Chromosome 1, 247587809: 247587809
20 NLRP3 NM_001243133.1(NLRP3): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs28937896 GRCh38 Chromosome 1, 247424507: 247424507
21 NLRP3 NM_004895.4(NLRP3): c.1000A> G (p.Ser334Gly) single nucleotide variant not provided rs672601258 GRCh37 Chromosome 1, 247587745: 247587745
22 NLRP3 NM_004895.4(NLRP3): c.1000A> G (p.Ser334Gly) single nucleotide variant not provided rs672601258 GRCh38 Chromosome 1, 247424443: 247424443
23 NLRP12 NM_144687.3(NLRP12): c.2701G> C (p.Val901Leu) single nucleotide variant Benign/Likely benign rs104895568 GRCh37 Chromosome 19, 54304536: 54304536
24 NLRP12 NM_144687.3(NLRP12): c.2701G> C (p.Val901Leu) single nucleotide variant Benign/Likely benign rs104895568 GRCh38 Chromosome 19, 53801282: 53801282
25 NLRP12 NM_144687.3(NLRP12): c.2784C> T (p.Ala928=) single nucleotide variant Benign/Likely benign rs104895569 GRCh37 Chromosome 19, 54301640: 54301640
26 NLRP12 NM_144687.3(NLRP12): c.2784C> T (p.Ala928=) single nucleotide variant Benign/Likely benign rs104895569 GRCh38 Chromosome 19, 53798386: 53798386
27 NLRP12 NM_144687.3(NLRP12): c.2830C> A (p.Arg944=) single nucleotide variant Benign/Likely benign rs104895570 GRCh37 Chromosome 19, 54301594: 54301594
28 NLRP12 NM_144687.3(NLRP12): c.2830C> A (p.Arg944=) single nucleotide variant Benign/Likely benign rs104895570 GRCh38 Chromosome 19, 53798340: 53798340
29 NLRP3 NM_001243133.1(NLRP3): c.1032G> A (p.Leu344=) single nucleotide variant Benign/Likely benign rs180177471 GRCh37 Chromosome 1, 247587783: 247587783
30 NLRP3 NM_001243133.1(NLRP3): c.1032G> A (p.Leu344=) single nucleotide variant Benign/Likely benign rs180177471 GRCh38 Chromosome 1, 247424481: 247424481
31 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh37 Chromosome 1, 247587794: 247587794
32 NLRP3 NM_001243133.1(NLRP3): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs151344629 GRCh38 Chromosome 1, 247424492: 247424492
33 NLRP3 NM_001243133.1(NLRP3): c.1051G> A (p.Val351Met) single nucleotide variant not provided rs180177463 GRCh37 Chromosome 1, 247587802: 247587802
34 NLRP3 NM_001243133.1(NLRP3): c.1051G> A (p.Val351Met) single nucleotide variant not provided rs180177463 GRCh38 Chromosome 1, 247424500: 247424500
35 NLRP3 NM_001243133.1(NLRP3): c.1051G> C (p.Val351Leu) single nucleotide variant not provided rs180177463 GRCh37 Chromosome 1, 247587802: 247587802
36 NLRP3 NM_001243133.1(NLRP3): c.1051G> C (p.Val351Leu) single nucleotide variant not provided rs180177463 GRCh38 Chromosome 1, 247424500: 247424500
37 NLRP3 NM_001243133.1(NLRP3): c.1054G> A (p.Ala352Thr) single nucleotide variant not provided rs180177503 GRCh37 Chromosome 1, 247587805: 247587805
38 NLRP3 NM_001243133.1(NLRP3): c.1054G> A (p.Ala352Thr) single nucleotide variant not provided rs180177503 GRCh38 Chromosome 1, 247424503: 247424503
39 NLRP3 NM_001243133.1(NLRP3): c.1062G> T (p.Glu354Asp) single nucleotide variant not provided rs180177444 GRCh37 Chromosome 1, 247587813: 247587813
40 NLRP3 NM_001243133.1(NLRP3): c.1062G> T (p.Glu354Asp) single nucleotide variant not provided rs180177444 GRCh38 Chromosome 1, 247424511: 247424511
41 NLRP3 NM_001243133.1(NLRP3): c.1073A> G (p.His358Arg) single nucleotide variant not provided rs180177434 GRCh37 Chromosome 1, 247587824: 247587824
42 NLRP3 NM_001243133.1(NLRP3): c.1073A> G (p.His358Arg) single nucleotide variant not provided rs180177434 GRCh38 Chromosome 1, 247424522: 247424522
43 NLRP3 NM_001243133.1(NLRP3): c.1121C> A (p.Ala374Asp) single nucleotide variant not provided rs180177437 GRCh37 Chromosome 1, 247587872: 247587872
44 NLRP3 NM_001243133.1(NLRP3): c.1121C> A (p.Ala374Asp) single nucleotide variant not provided rs180177437 GRCh38 Chromosome 1, 247424570: 247424570
45 NLRP3 NM_001243133.1(NLRP3): c.1213A> C (p.Thr405Pro) single nucleotide variant Pathogenic rs180177445 GRCh37 Chromosome 1, 247587964: 247587964
46 NLRP3 NM_001243133.1(NLRP3): c.1213A> C (p.Thr405Pro) single nucleotide variant Pathogenic rs180177445 GRCh38 Chromosome 1, 247424662: 247424662
47 NLRP3 NM_001243133.1(NLRP3): c.1218G> C (p.Met406Ile) single nucleotide variant not provided rs180177486 GRCh37 Chromosome 1, 247587969: 247587969
48 NLRP3 NM_001243133.1(NLRP3): c.1218G> C (p.Met406Ile) single nucleotide variant not provided rs180177486 GRCh38 Chromosome 1, 247424667: 247424667
49 NLRP3 NM_001243133.1(NLRP3): c.1231C> T (p.Leu411=) single nucleotide variant Benign/Likely benign rs148478875 GRCh37 Chromosome 1, 247587982: 247587982
50 NLRP3 NM_001243133.1(NLRP3): c.1231C> T (p.Leu411=) single nucleotide variant Benign/Likely benign rs148478875 GRCh38 Chromosome 1, 247424680: 247424680

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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 CASP1 IL18 IL1B NLRC4 NLRP3 PLCG2
2
Show member pathways
12.65 CASP1 IL18 IL1B NLRC4 NLRP12 NLRP3
3
Show member pathways
12.53 CASP1 IL18 IL1B NLRP3
4
Show member pathways
12.49 CASP1 IL18 IL1B SAA1
5
Show member pathways
11.97 CASP1 IL1B NLRP3 PLCG2
6
Show member pathways
11.96 CASP1 IL1B NLRP3
7
Show member pathways
11.79 CASP1 IL18 IL1B PLCG2
8
Show member pathways
11.75 CASP1 NLRC4 NLRP3
9 11.73 IL18 IL1B SAA1
10 11.51 CASP1 IL1B NLRP3
11 11.49 CASP1 IL18 IL1B NLRC4
12 11.29 IL18 IL1B
13 11.28 IL18 IL1B
14 11.27 IL18 IL1B
15 11.2 CASP1 IL18 IL1B NLRC4
16 11.12 IL18 IL1B
17 11.07 IL18 IL1B
18 10.98 IL18 IL1B NLRP3
19 10.89 CASP1 IL18 IL1B
20 10.71 CASP1 IL18 IL1B NLRC4 NLRP12 NLRP3
21 9.98 CASP1 IL18 IL1B

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 NLRP3 inflammasome complex GO:0072559 8.96 CASP1 NLRP3
2 IPAF inflammasome complex GO:0072557 8.62 CASP1 NLRC4

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.88 CASP1 IL1B NLRC4 NLRP3
2 inflammatory response GO:0006954 9.81 IL18 IL1B NLRC4 NLRP3
3 cellular response to lipopolysaccharide GO:0071222 9.73 CASP1 IL1B NLRP3
4 cytokine-mediated signaling pathway GO:0019221 9.73 CASP1 IL18 IL1B SAA1
5 negative regulation of inflammatory response GO:0050728 9.67 NLRP12 NLRP3 SAA1
6 cellular response to cytokine stimulus GO:0071345 9.61 CASP1 NLRP12
7 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.61 CASP1 NLRP3
8 positive regulation of interferon-gamma production GO:0032729 9.6 IL18 IL1B
9 cellular response to organic substance GO:0071310 9.59 CASP1 IL1B
10 lipopolysaccharide-mediated signaling pathway GO:0031663 9.58 IL18 IL1B
11 negative regulation of NIK/NF-kappaB signaling GO:1901223 9.57 NLRP12 NLRP3
12 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.55 IL1B NLRP12
13 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.54 NLRC4 NLRP12
14 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.52 IL18 IL1B
15 interleukin-6 production GO:0032635 9.48 IL18 IL1B
16 positive regulation of T-helper 2 cell differentiation GO:0045630 9.46 IL18 NLRP3
17 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.46 IL18 IL1B NLRC4 NLRP3
18 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.43 IL18 IL1B NLRP12
19 positive regulation of neuroinflammatory response GO:0150078 9.4 IL18 IL1B
20 interleukin-1 beta production GO:0032611 9.37 IL1B NLRP3
21 positive regulation of T-helper 1 cell cytokine production GO:2000556 9.32 IL18 IL1B
22 positive regulation of interleukin-1 beta secretion GO:0050718 9.13 CASP1 NLRP12 NLRP3
23 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 8.92 CASP1 NLRC4 NLRP12 NLRP3
24 signal transduction GO:0007165 10.02 CASP1 IL1B NLRP12 NLRP3 PLCG2

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

# Name GO ID Score Top Affiliating Genes
1 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 8.62 CASP1 NLRP12

Sources for Familial Cold Autoinflammatory Syndrome

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
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