FCAS2
MCID: FML117
MIFTS: 41

Familial Cold Autoinflammatory Syndrome 2 (FCAS2)

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 2

MalaCards integrated aliases for Familial Cold Autoinflammatory Syndrome 2:

Name: Familial Cold Autoinflammatory Syndrome 2 57 12 72 29 13 6 44 15 70
Fcas2 57 58 72
Nlrp12-Associated Hereditary Periodic Fever Syndrome 12 58
Familial Cold Autoinflammatory Syndrome 2, Susceptibility to 6
Autoinflammatory Syndrome, Cold, Familial, Type 2 39
Familial Cold Autoinflammatory Syndrome Type 2 58
Naps12 58

Characteristics:

Orphanet epidemiological data:

58
nlrp12-associated hereditary periodic fever syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
phenotypic variability
variable age at onset, range infancy to adult
episodes are triggered by cold exposure
episodes can last hours, days, or weeks
responsive to steroid treatment

Inheritance:
autosomal dominant


HPO:

31
familial cold autoinflammatory syndrome 2:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset incomplete penetrance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0090063
OMIM® 57 611762
OMIM Phenotypic Series 57 PS120100
ICD10 via Orphanet 33 E85.0
UMLS via Orphanet 71 C2673198
Orphanet 58 ORPHA247868
MedGen 41 C2673198
UMLS 70 C2673198

Summaries for Familial Cold Autoinflammatory Syndrome 2

OMIM® : 57 Familial cold autoinflammatory syndrome-2 (FCAS2) is an autosomal dominant autoinflammatory disorder characterized by episodic and recurrent rash, urticaria, arthralgia, myalgia, and headache. In most patients, these episodes are accompanied by fever and serologic evidence of inflammation. Most, but not all, patients report exposure to cold as a trigger for the episodes. Additional features may include abdominal pain, thoracic pain, and sensorineural deafness. The age at onset is variable, ranging from the first year of life to middle age, and the severity and clinical manifestations are heterogeneous (summary by Shen et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of familial cold autoinflammatory syndrome, see FCAS1 (120100). (611762) (Updated 05-Apr-2021)

MalaCards based summary : Familial Cold Autoinflammatory Syndrome 2, also known as fcas2, is related to miliaria pustulosa and autoinflammatory syndrome. An important gene associated with Familial Cold Autoinflammatory Syndrome 2 is NLRP12 (NLR Family Pyrin Domain Containing 12), and among its related pathways/superpathways are NOD-like receptor signaling pathway and Nucleotide-binding Oligomerization Domain (NOD) pathway. Related phenotypes are splenomegaly and sensorineural hearing impairment

Disease Ontology : 12 A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the NLRP12 gene on chromosome 19q13.

UniProtKB/Swiss-Prot : 72 Familial cold autoinflammatory syndrome 2: 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.

Related Diseases for Familial Cold Autoinflammatory Syndrome 2

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 miliaria pustulosa 10.2 IL1RL2 CARD14
2 autoinflammatory syndrome 10.2 NLRP3 NLRP12
3 impetigo herpetiformis 10.2 IL1RL2 CARD14
4 erysipeloid 10.2 NLRP12 MEFV
5 pustulosis of palm and sole 10.2 IL1RL2 CARD14
6 pyoderma 10.1 NLRP3 MEFV
7 neutrophilic dermatosis, acute febrile 10.1 MEFV IL1RL2
8 psoriasis 14, pustular 10.1 IL1RL2 CARD14
9 wells syndrome 10.1 NLRP3 MEFV
10 psoriatic juvenile idiopathic arthritis 10.1 NLRP3 MEFV
11 hereditary periodic fever syndrome 10.1 NLRP3 MEFV
12 familial cold autoinflammatory syndrome 1 10.1 NLRP3 MEFV
13 chronic meningitis 10.1 NLRP3 MEFV
14 chronic recurrent multifocal osteomyelitis 10.0 NLRP3 MEFV
15 erysipelas 10.0 MVK MEFV
16 osteomyelitis 10.0 NLRP3 MEFV
17 relapsing fever 10.0 MVK MEFV
18 sebaceous gland disease 10.0 NLRP3 MEFV
19 adult-onset still's disease 10.0 NLRP3 MEFV
20 hidradenitis 9.9 NLRP3 MEFV
21 pityriasis rubra pilaris 9.9 MVK IL1RL2 CARD14
22 hidradenitis suppurativa 9.9 NLRP3 MEFV
23 chondrocalcinosis 9.9 OTULIN NLRP3 MEFV
24 schnitzler syndrome 9.9 NLRP3 NLRP12 MVK
25 aphthous stomatitis 9.9 NLRP3 MEFV
26 pyoderma gangrenosum 9.9 NLRP3 MVK MEFV
27 pharyngitis 9.8 NLRP3 MVK MEFV
28 peroxisomal disease 9.8 NLRP3 MVK MEFV
29 exanthem 9.8 NLRP3 MVK MEFV
30 proteasome-associated autoinflammatory syndrome 1 9.8 NLRP3 MVK MEFV
31 familial mediterranean fever 9.8 NLRP3 MVK MEFV
32 conjunctivitis 9.8 NLRP3 NLRP12
33 cervical adenitis 9.7 NLRP3 NLRP12 MVK MEFV
34 periodic fever, familial, autosomal dominant 9.7 NLRP3 NLRP12 MVK MEFV
35 cinca syndrome 9.7 NLRP3 NLRP12 MVK MEFV
36 blau syndrome 9.7 NLRP3 NLRP12 MVK MEFV
37 muckle-wells syndrome 9.7 NLRP3 NLRP12 MVK MEFV
38 behcet syndrome 9.6 OTULIN NLRP3 MVK MEFV
39 familial cold autoinflammatory syndrome 9.5 NLRP3 NLRP12 MVK MEFV IL1RL2
40 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 9.3 NLRP3 NLRP12 MVK MEFV IL1RL2 CARD14
41 mevalonic aciduria 9.3 NLRP3 NLRP12 MVK MEFV IL1RL2 CARD14

Graphical network of the top 20 diseases related to Familial Cold Autoinflammatory Syndrome 2:



Diseases related to Familial Cold Autoinflammatory Syndrome 2

Symptoms & Phenotypes for Familial Cold Autoinflammatory Syndrome 2

Human phenotypes related to Familial Cold Autoinflammatory Syndrome 2:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 very rare (1%) HP:0001744
2 sensorineural hearing impairment 31 very rare (1%) HP:0000407
3 arthralgia 31 very rare (1%) HP:0002829
4 myalgia 31 very rare (1%) HP:0003326
5 urticaria 31 very rare (1%) HP:0001025
6 headache 31 very rare (1%) HP:0002315
7 lymphadenopathy 31 very rare (1%) HP:0002716
8 elevated c-reactive protein level 31 very rare (1%) HP:0011227
9 elevated erythrocyte sedimentation rate 31 very rare (1%) HP:0003565
10 leukocytosis 31 very rare (1%) HP:0001974
11 recurrent fever 31 very rare (1%) HP:0001954
12 erythema nodosum 31 very rare (1%) HP:0012219
13 lower limb pain 31 very rare (1%) HP:0012514
14 pharyngalgia 31 very rare (1%) HP:0033050
15 arthritis 31 HP:0001369
16 abdominal pain 31 HP:0002027
17 skin rash 31 HP:0000988
18 recurrent aphthous stomatitis 31 HP:0011107

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
headache, episodic

Laboratory Abnormalities:
increased acute phase reactants
serum c-reactive protein may be increased
erythrocyte sedimentation rate may be increased

Abdomen Spleen:
splenomegaly (in some patients)

Head And Neck Mouth:
aphthous ulcers, episodic

Skin Nails Hair Skin:
rash, episodic
urticaria, episodic

Immunology:
lymphadenopathy (in some patients)
lymphocytosis, episodic (in some patients)

Metabolic Features:
fever, episodic

Head And Neck Ears:
sensorineural deafness (in some patients)

Abdomen:
abdominal pain, episodic

Skeletal:
arthralgias, episodic
arthritis, episodic

Muscle Soft Tissue:
myalgias, episodic

Clinical features from OMIM®:

611762 (Updated 05-Apr-2021)

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome 2

Search Clinical Trials , NIH Clinical Center for Familial Cold Autoinflammatory Syndrome 2

Cochrane evidence based reviews: familial cold autoinflammatory syndrome 2

Genetic Tests for Familial Cold Autoinflammatory Syndrome 2

Genetic tests related to Familial Cold Autoinflammatory Syndrome 2:

# Genetic test Affiliating Genes
1 Familial Cold Autoinflammatory Syndrome 2 29 NLRP12

Anatomical Context for Familial Cold Autoinflammatory Syndrome 2

Publications for Familial Cold Autoinflammatory Syndrome 2

Articles related to Familial Cold Autoinflammatory Syndrome 2:

# Title Authors PMID Year
1
NLRP12 autoinflammatory disease: a Chinese case series and literature review. 6 57
27633793 2017
2
Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing. 57 6
27314497 2016
3
Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: an Italian case series. 57 6
24064030 2013
4
Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. 57 6
21538323 2011
5
Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. 6 57
21360512 2011
6
Mutations in NALP12 cause hereditary periodic fever syndromes. 57 6
18230725 2008
7
NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence. 61
32725138 2020
8
Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease. 61
30183354 2018
9
Mimickers of Urticaria: Urticarial Vasculitis and Autoinflammatory Diseases. 61
29871797 2018

Variations for Familial Cold Autoinflammatory Syndrome 2

ClinVar genetic disease variations for Familial Cold Autoinflammatory Syndrome 2:

6 (show top 50) (show all 400)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NLRP12 NM_144687.3(NLRP12):c.882C>G (p.Asp294Glu) SNV Pathogenic 523653 rs147080557 GRCh37: 19:54314031-54314031
GRCh38: 19:53810777-53810777
2 NLRP12 NM_144687.3(NLRP12):c.1223G>A (p.Trp408Ter) SNV Pathogenic 523656 rs774895361 GRCh37: 19:54313690-54313690
GRCh38: 19:53810436-53810436
3 NLRP12 NM_144687.3(NLRP12):c.2791G>T (p.Glu931Ter) SNV Pathogenic 567880 rs1404302953 GRCh37: 19:54301633-54301633
GRCh38: 19:53798379-53798379
4 NLRP12 NM_144687.3(NLRP12):c.1170C>A (p.Tyr390Ter) SNV Pathogenic 580902 rs146245368 GRCh37: 19:54313743-54313743
GRCh38: 19:53810489-53810489
5 NLRP12 NM_144687.3(NLRP12):c.2574_2585+13del Deletion Pathogenic 574410 rs1302931500 GRCh37: 19:54307193-54307217
GRCh38: 19:53803939-53803963
6 NLRP12 NM_001277126.1(NLRP12):c.1109_1112GGAA[1] (p.Lys371fs) Microsatellite Pathogenic 649559 rs1599842537 GRCh37: 19:54313797-54313800
GRCh38: 19:53810543-53810546
7 NLRP12 NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter) SNV Pathogenic 987914 GRCh37: 19:54312961-54312961
GRCh38: 19:53809707-53809707
8 NLRP12 NM_144687.4(NLRP12):c.1246C>T (p.Gln416Ter) SNV Pathogenic 1032450 GRCh37: 19:54313667-54313667
GRCh38: 19:53810413-53810413
9 NLRP12 NM_144687.4(NLRP12):c.1518T>A (p.Cys506Ter) SNV Pathogenic 1033107 GRCh37: 19:54313395-54313395
GRCh38: 19:53810141-53810141
10 NLRP12 NM_144687.4(NLRP12):c.46dup (p.Tyr16fs) Duplication Pathogenic 636652 rs1599879570 GRCh37: 19:54327382-54327383
GRCh38: 19:53824128-53824129
11 NLRP12 NM_144687.3(NLRP12):c.455dup (p.Asn152fs) Duplication Likely pathogenic 493269 rs759034762 GRCh37: 19:54314457-54314458
GRCh38: 19:53811203-53811204
12 NLRP12 NM_144687.3(NLRP12):c.1206C>G (p.Phe402Leu) SNV risk factor 262529 rs34971363 GRCh37: 19:54313707-54313707
GRCh38: 19:53810453-53810453
13 NLRP12 NM_144687.3(NLRP12):c.3088C>G (p.Arg1030Gly) SNV Conflicting interpretations of pathogenicity 330000 rs201619538 GRCh37: 19:54299123-54299123
GRCh38: 19:53795869-53795869
14 NLRP12 NM_144687.3(NLRP12):c.1022C>T (p.Thr341Ile) SNV Conflicting interpretations of pathogenicity 647864 rs200996095 GRCh37: 19:54313891-54313891
GRCh38: 19:53810637-53810637
15 NLRP12 NM_144687.3(NLRP12):c.3152G>C (p.Arg1051Pro) SNV Conflicting interpretations of pathogenicity 329998 rs777108086 GRCh37: 19:54297337-54297337
GRCh38: 19:53794083-53794083
16 NLRP12 NM_144687.3(NLRP12):c.2183G>A (p.Arg728Gln) SNV Conflicting interpretations of pathogenicity 444482 rs373285006 GRCh37: 19:54310809-54310809
GRCh38: 19:53807555-53807555
17 NLRP12 NM_144687.4(NLRP12):c.2072+2_2072+3insTT Insertion Conflicting interpretations of pathogenicity 811868 rs104895565 GRCh37: 19:54312838-54312839
GRCh38: 19:53809584-53809585
18 NLRP12 NM_144687.3(NLRP12):c.858C>T (p.Pro286=) SNV Conflicting interpretations of pathogenicity 536935 rs145171629 GRCh37: 19:54314055-54314055
GRCh38: 19:53810801-53810801
19 NLRP12 NM_144687.3(NLRP12):c.2761G>C (p.Gly921Arg) SNV Conflicting interpretations of pathogenicity 662386 rs199980950 GRCh37: 19:54301663-54301663
GRCh38: 19:53798409-53798409
20 NLRP12 NM_144687.3(NLRP12):c.2575C>T (p.Arg859Trp) SNV Conflicting interpretations of pathogenicity 330017 rs573629753 GRCh37: 19:54307216-54307216
GRCh38: 19:53803962-53803962
21 NLRP12 NM_144687.3(NLRP12):c.654G>A (p.Ala218=) SNV Conflicting interpretations of pathogenicity 330038 rs745766441 GRCh37: 19:54314259-54314259
GRCh38: 19:53811005-53811005
22 NLRP12 NM_144687.3(NLRP12):c.541C>T (p.Arg181Trp) SNV Conflicting interpretations of pathogenicity 644675 rs758607519 GRCh37: 19:54314372-54314372
GRCh38: 19:53811118-53811118
23 NLRP12 NM_144687.3(NLRP12):c.2960G>A (p.Cys987Tyr) SNV Conflicting interpretations of pathogenicity 651898 rs369502542 GRCh37: 19:54299251-54299251
GRCh38: 19:53795997-53795997
24 NLRP12 NM_144687.3(NLRP12):c.2206G>A (p.Gly736Arg) SNV Conflicting interpretations of pathogenicity 536936 rs554602951 GRCh37: 19:54310786-54310786
GRCh38: 19:53807532-53807532
25 NLRP12 NM_144687.3(NLRP12):c.1349C>T (p.Pro450Leu) SNV Conflicting interpretations of pathogenicity 330031 rs143640165 GRCh37: 19:54313564-54313564
GRCh38: 19:53810310-53810310
26 NLRP12 NM_144687.3(NLRP12):c.2499C>A (p.Asp833Glu) SNV Conflicting interpretations of pathogenicity 330018 rs139956424 GRCh37: 19:54307292-54307292
GRCh38: 19:53804038-53804038
27 NLRP12 NM_144687.3(NLRP12):c.910C>T (p.His304Tyr) SNV Conflicting interpretations of pathogenicity 262532 rs141245482 GRCh37: 19:54314003-54314003
GRCh38: 19:53810749-53810749
28 NLRP12 NM_144687.4(NLRP12):c.2756G>A (p.Arg919Gln) SNV Conflicting interpretations of pathogenicity 894520 GRCh37: 19:54304481-54304481
GRCh38: 19:53801227-53801227
29 NLRP12 NM_144687.3(NLRP12):c.986G>A (p.Arg329Gln) SNV Conflicting interpretations of pathogenicity 330033 rs144287432 GRCh37: 19:54313927-54313927
GRCh38: 19:53810673-53810673
30 NLRP12 NM_144687.3(NLRP12):c.2072+2dup Duplication Conflicting interpretations of pathogenicity 1597 rs104895565 GRCh37: 19:54312838-54312839
GRCh38: 19:53809584-53809585
31 NLRP12 NM_144687.3(NLRP12):c.2831G>A (p.Arg944Gln) SNV Conflicting interpretations of pathogenicity 330006 rs200742741 GRCh37: 19:54301593-54301593
GRCh38: 19:53798339-53798339
32 NLRP12 NM_144687.4(NLRP12):c.456C>A (p.Asn152Lys) SNV Uncertain significance 892567 GRCh37: 19:54314457-54314457
GRCh38: 19:53811203-53811203
33 NLRP12 NM_144687.4(NLRP12):c.2468_2470delinsCTT (p.Leu823_Gly824delinsProCys) Indel Uncertain significance 973009 GRCh37: 19:54307321-54307323
GRCh38: 19:53804067-53804069
34 NLRP12 NM_144687.4(NLRP12):c.695T>C (p.Leu232Pro) SNV Uncertain significance 1015090 GRCh37: 19:54314218-54314218
GRCh38: 19:53810964-53810964
35 NLRP12 NM_144687.4(NLRP12):c.1643A>G (p.Tyr548Cys) SNV Uncertain significance 1015257 GRCh37: 19:54313270-54313270
GRCh38: 19:53810016-53810016
36 NLRP12 NM_144687.4(NLRP12):c.1855G>A (p.Glu619Lys) SNV Uncertain significance 1016711 GRCh37: 19:54313058-54313058
GRCh38: 19:53809804-53809804
37 NLRP12 NM_144687.4(NLRP12):c.1001C>G (p.Pro334Arg) SNV Uncertain significance 1016859 GRCh37: 19:54313912-54313912
GRCh38: 19:53810658-53810658
38 NLRP12 NM_144687.4(NLRP12):c.2992C>A (p.Gln998Lys) SNV Uncertain significance 1016975 GRCh37: 19:54299219-54299219
GRCh38: 19:53795965-53795965
39 NLRP12 NM_144687.4(NLRP12):c.2500C>A (p.Leu834Met) SNV Uncertain significance 1017146 GRCh37: 19:54307291-54307291
GRCh38: 19:53804037-53804037
40 NLRP12 NM_144687.4(NLRP12):c.524A>G (p.Gln175Arg) SNV Uncertain significance 1017254 GRCh37: 19:54314389-54314389
GRCh38: 19:53811135-53811135
41 NLRP12 NM_144687.4(NLRP12):c.2363T>G (p.Met788Arg) SNV Uncertain significance 1018670 GRCh37: 19:54308585-54308585
GRCh38: 19:53805331-53805331
42 NLRP12 NM_144687.4(NLRP12):c.231dup (p.Glu78Ter) Duplication Uncertain significance 1018721 GRCh37: 19:54327197-54327198
GRCh38: 19:53823943-53823944
43 NLRP12 NM_144687.4(NLRP12):c.2618G>C (p.Cys873Ser) SNV Uncertain significance 1019711 GRCh37: 19:54304619-54304619
GRCh38: 19:53801365-53801365
44 NLRP12 NC_000019.9:g.(?_54297283)_(54297410_?)del Deletion Uncertain significance 1020605 GRCh37: 19:54297283-54297410
GRCh38:
45 NLRP12 NC_000019.9:g.(?_54301477)_(54301687_?)del Deletion Uncertain significance 1020606 GRCh37: 19:54301477-54301687
GRCh38:
46 NLRP12 NC_000019.9:g.(?_54297283)_(54327448_?)dup Duplication Uncertain significance 1020607 GRCh37: 19:54297283-54327448
GRCh38:
47 NLRP12 NM_144687.4(NLRP12):c.2360dup (p.Met787fs) Duplication Uncertain significance 1021028 GRCh37: 19:54308587-54308588
GRCh38: 19:53805333-53805334
48 NLRP12 NM_144687.4(NLRP12):c.2374G>C (p.Glu792Gln) SNV Uncertain significance 1021924 GRCh37: 19:54308574-54308574
GRCh38: 19:53805320-53805320
49 NLRP12 NM_144687.4(NLRP12):c.283G>C (p.Val95Leu) SNV Uncertain significance 1022229 GRCh37: 19:54327146-54327146
GRCh38: 19:53823892-53823892
50 NLRP12 NM_144687.4(NLRP12):c.2T>C (p.Met1Thr) SNV Uncertain significance 1025407 GRCh37: 19:54327427-54327427
GRCh38: 19:53824173-53824173

Expression for Familial Cold Autoinflammatory Syndrome 2

Search GEO for disease gene expression data for Familial Cold Autoinflammatory Syndrome 2.

Pathways for Familial Cold Autoinflammatory Syndrome 2

Pathways related to Familial Cold Autoinflammatory Syndrome 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.39 NLRP3 NLRP12 MEFV
2 10.41 NLRP3 NLRP12 MEFV

GO Terms for Familial Cold Autoinflammatory Syndrome 2

Biological processes related to Familial Cold Autoinflammatory Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.67 OTULIN NLRP3 MEFV IL1RL2
2 inflammatory response GO:0006954 9.63 NLRP3 MEFV IL1RL2
3 innate immune response GO:0045087 9.46 OTULIN NLRP3 MEFV IL1RL2
4 cellular response to cytokine stimulus GO:0071345 9.43 NLRP12 IL1RL2
5 positive regulation of interleukin-1 beta production GO:0032731 9.4 NLRP3 NLRP12
6 negative regulation of interleukin-1 beta production GO:0032691 9.32 NLRP3 MEFV
7 negative regulation of NIK/NF-kappaB signaling GO:1901223 9.26 NLRP3 NLRP12
8 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.13 OTULIN NLRP3 NLRP12
9 negative regulation of inflammatory response GO:0050728 9.02 OTULIN NLRP3 NLRP12 MVK MEFV

Sources for Familial Cold Autoinflammatory Syndrome 2

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
Content
Loading form....