FCAS4
MCID: FML270
MIFTS: 23

Familial Cold Autoinflammatory Syndrome 4 (FCAS4)

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

Aliases & Classifications for Familial Cold Autoinflammatory Syndrome 4

MalaCards integrated aliases for Familial Cold Autoinflammatory Syndrome 4:

Name: Familial Cold Autoinflammatory Syndrome 4 56 12 73 29 6 71
Fcas4 56 73
Autoinflammatory, Cold, Familial, Syndrome, Type 4 39

Characteristics:

OMIM:

56
Miscellaneous:
episodic
onset in early infancy (2 to 3 months of age)
symptoms usually resolve without treatment
one japanese family has been reported (last curated december 2014)

Inheritance:
autosomal dominant


HPO:

31
familial cold autoinflammatory syndrome 4:
Inheritance autosomal dominant inheritance
Onset and clinical course episodic


Classifications:



External Ids:

Disease Ontology 12 DOID:0090065
OMIM 56 616115
OMIM Phenotypic Series 56 PS120100
MeSH 43 D056587
ICD10 32 L50.2
UMLS 71 C4015276

Summaries for Familial Cold Autoinflammatory Syndrome 4

UniProtKB/Swiss-Prot : 73 Familial cold autoinflammatory syndrome 4: A form of autoinflammatory syndrome, a rare autosomal dominant systemic 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.

MalaCards based summary : Familial Cold Autoinflammatory Syndrome 4, is also known as fcas4. An important gene associated with Familial Cold Autoinflammatory Syndrome 4 is NLRC4 (NLR Family CARD Domain Containing 4). Affiliated tissues include skin and bone, and related phenotypes are fever and arthralgia

Disease Ontology : 12 A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has material basis in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22.

More information from OMIM: 616115 PS120100

Related Diseases for Familial Cold Autoinflammatory Syndrome 4

Symptoms & Phenotypes for Familial Cold Autoinflammatory Syndrome 4

Human phenotypes related to Familial Cold Autoinflammatory Syndrome 4:

31
# Description HPO Frequency HPO Source Accession
1 fever 31 HP:0001945
2 arthralgia 31 HP:0002829

Symptoms via clinical synopsis from OMIM:

56
Skeletal:
arthralgia, episodic

Metabolic Features:
fever, intermittent

Skin Nails Hair Skin:
rash, urticarial, episodic
non pruritic

Immunology:
autoinflammatory disorder

Clinical features from OMIM:

616115

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome 4

Search Clinical Trials , NIH Clinical Center for Familial Cold Autoinflammatory Syndrome 4

Genetic Tests for Familial Cold Autoinflammatory Syndrome 4

Genetic tests related to Familial Cold Autoinflammatory Syndrome 4:

# Genetic test Affiliating Genes
1 Familial Cold Autoinflammatory Syndrome 4 29 NLRC4

Anatomical Context for Familial Cold Autoinflammatory Syndrome 4

MalaCards organs/tissues related to Familial Cold Autoinflammatory Syndrome 4:

40
Skin, Bone

Publications for Familial Cold Autoinflammatory Syndrome 4

Articles related to Familial Cold Autoinflammatory Syndrome 4:

# Title Authors PMID Year
1
An inherited mutation in NLRC4 causes autoinflammation in human and mice. 56 6
25385754 2014

Variations for Familial Cold Autoinflammatory Syndrome 4

ClinVar genetic disease variations for Familial Cold Autoinflammatory Syndrome 4:

6 (show all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NLRC4 NM_001199138.2(NLRC4):c.1328A>C (p.His443Pro)SNV Pathogenic 161413 rs606231460 2:32475605-32475605 2:32250536-32250536
2 NLRC4 NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)SNV Conflicting interpretations of pathogenicity 475252 rs149451729 2:32463365-32463365 2:32238296-32238296
3 NLRC4 NM_001199138.2(NLRC4):c.2426A>G (p.Asp809Gly)SNV Uncertain significance 475253 rs937306605 2:32463296-32463296 2:32238227-32238227
4 NLRC4 NM_001199138.2(NLRC4):c.3052G>A (p.Ala1018Thr)SNV Uncertain significance 542041 rs1438338245 2:32449565-32449565 2:32224496-32224496
5 NLRC4 NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter)SNV Uncertain significance 103085 rs199475953 2:32476005-32476005 2:32250936-32250936
6 NLRC4 NM_001199138.2(NLRC4):c.1015C>A (p.Leu339Ile)SNV Uncertain significance 542042 rs1553347334 2:32475918-32475918 2:32250849-32250849
7 NLRC4 NM_001199138.2(NLRC4):c.1474C>T (p.Arg492Trp)SNV Uncertain significance 547910 rs1317272776 2:32475459-32475459 2:32250390-32250390
8 NLRC4 NM_001199138.2(NLRC4):c.2968G>A (p.Val990Met)SNV Uncertain significance 580615 rs1558441930 2:32449649-32449649 2:32224580-32224580
9 NLRC4 NM_001199138.2(NLRC4):c.494G>C (p.Cys165Ser)SNV Uncertain significance 573166 rs1558458397 2:32476439-32476439 2:32251370-32251370
10 NLRC4 NM_001199138.2(NLRC4):c.371T>C (p.Ile124Thr)SNV Uncertain significance 576971 rs188120749 2:32476562-32476562 2:32251493-32251493
11 NLRC4 NM_001199138.2(NLRC4):c.104G>A (p.Arg35His)SNV Uncertain significance 579967 rs755228287 2:32477646-32477646 2:32252577-32252577
12 NLRC4 NM_001199138.2(NLRC4):c.2449A>G (p.Ser817Gly)SNV Uncertain significance 576184 rs755782497 2:32463273-32463273 2:32238204-32238204
13 NLRC4 NM_001199138.2(NLRC4):c.845A>C (p.Glu282Ala)SNV Uncertain significance 581390 rs769709902 2:32476088-32476088 2:32251019-32251019
14 NLRC4 NM_001199138.2(NLRC4):c.213dup (p.Ser72fs)duplication Uncertain significance 565443 rs1369844308 2:32477536-32477537 2:32252467-32252468
15 NLRC4 NM_001199138.2(NLRC4):c.1734C>A (p.Phe578Leu)SNV Uncertain significance 576523 rs1558456920 2:32475199-32475199 2:32250130-32250130
16 NLRC4 NM_001199138.2(NLRC4):c.2843G>A (p.Arg948His)SNV Uncertain significance 581834 rs186759526 2:32449774-32449774 2:32224705-32224705
17 NLRC4 NM_001199138.2(NLRC4):c.1754A>G (p.Tyr585Cys)SNV Uncertain significance 568405 rs763410160 2:32475179-32475179 2:32250110-32250110
18 NLRC4 NM_001199138.2(NLRC4):c.1475G>A (p.Arg492Gln)SNV Uncertain significance 570941 rs1375814112 2:32475458-32475458 2:32250389-32250389
19 NLRC4 NM_001199138.2(NLRC4):c.1160T>C (p.Ile387Thr)SNV Uncertain significance 571019 rs756625023 2:32475773-32475773 2:32250704-32250704
20 NLRC4 NM_001199138.2(NLRC4):c.871G>A (p.Gly291Ser)SNV Uncertain significance 575189 rs780335164 2:32476062-32476062 2:32250993-32250993
21 NLRC4 NM_001199138.2(NLRC4):c.176_178delinsGG (p.Leu59fs)indel Uncertain significance 566051 rs1558459158 2:32477572-32477574 2:32252503-32252505
22 NLRC4 NM_001199138.2(NLRC4):c.3062T>A (p.Leu1021Gln)SNV Uncertain significance 644477 2:32449555-32449555 2:32224486-32224486
23 NLRC4 NM_001199138.2(NLRC4):c.3053C>G (p.Ala1018Gly)SNV Uncertain significance 661891 2:32449564-32449564 2:32224495-32224495
24 NLRC4 NM_001199138.2(NLRC4):c.2951T>C (p.Val984Ala)SNV Uncertain significance 652044 2:32449666-32449666 2:32224597-32224597
25 NLRC4 NM_001199138.2(NLRC4):c.2925A>C (p.Lys975Asn)SNV Uncertain significance 656380 2:32449692-32449692 2:32224623-32224623
26 NLRC4 NM_001199138.2(NLRC4):c.2882T>C (p.Phe961Ser)SNV Uncertain significance 655469 2:32449735-32449735 2:32224666-32224666
27 NLRC4 NM_001199138.2(NLRC4):c.2860T>A (p.Trp954Arg)SNV Uncertain significance 665407 2:32449757-32449757 2:32224688-32224688
28 NLRC4 NM_001199138.2(NLRC4):c.2728G>A (p.Val910Ile)SNV Uncertain significance 640786 2:32460524-32460524 2:32235455-32235455
29 NLRC4 NM_001199138.2(NLRC4):c.2713G>A (p.Glu905Lys)SNV Uncertain significance 664043 2:32460539-32460539 2:32235470-32235470
30 NLRC4 NM_001199138.2(NLRC4):c.2674G>A (p.Val892Met)SNV Uncertain significance 650029 2:32460578-32460578 2:32235509-32235509
31 NLRC4 NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr)SNV Uncertain significance 643212 2:32460605-32460605 2:32235536-32235536
32 NLRC4 NM_001199138.2(NLRC4):c.2380T>C (p.Cys794Arg)SNV Uncertain significance 661691 2:32463342-32463342 2:32238273-32238273
33 NLRC4 NM_001199138.2(NLRC4):c.2368C>G (p.Leu790Val)SNV Uncertain significance 640362 2:32463354-32463354 2:32238285-32238285
34 NLRC4 NM_001199138.2(NLRC4):c.2043dup (p.Lys682fs)duplication Uncertain significance 651935 2:32474889-32474890 2:32249820-32249821
35 NLRC4 NM_001199138.2(NLRC4):c.1897G>A (p.Gly633Arg)SNV Uncertain significance 640171 2:32475036-32475036 2:32249967-32249967
36 NLRC4 NM_001199138.2(NLRC4):c.1799A>G (p.Glu600Gly)SNV Uncertain significance 641893 2:32475134-32475134 2:32250065-32250065
37 NLRC4 NM_001199138.2(NLRC4):c.1651A>G (p.Ile551Val)SNV Uncertain significance 648474 2:32475282-32475282 2:32250213-32250213
38 NLRC4 NM_001199138.2(NLRC4):c.1571C>T (p.Ala524Val)SNV Uncertain significance 646853 2:32475362-32475362 2:32250293-32250293
39 NLRC4 NM_001199138.2(NLRC4):c.1229T>C (p.Leu410Pro)SNV Uncertain significance 645273 2:32475704-32475704 2:32250635-32250635
40 NLRC4 NM_001199138.2(NLRC4):c.1163G>A (p.Arg388Gln)SNV Uncertain significance 638828 2:32475770-32475770 2:32250701-32250701
41 NLRC4 NM_001199138.2(NLRC4):c.890T>A (p.Val297Glu)SNV Uncertain significance 646522 2:32476043-32476043 2:32250974-32250974
42 NLRC4 NM_001199138.2(NLRC4):c.572G>T (p.Cys191Phe)SNV Uncertain significance 649854 2:32476361-32476361 2:32251292-32251292
43 NLRC4 NM_001199138.2(NLRC4):c.476A>G (p.Gln159Arg)SNV Uncertain significance 655811 2:32476457-32476457 2:32251388-32251388
44 NLRC4 NM_001199138.2(NLRC4):c.377T>C (p.Ile126Thr)SNV Uncertain significance 658728 2:32476556-32476556 2:32251487-32251487
45 NLRC4 NM_001199138.2(NLRC4):c.287G>T (p.Gly96Val)SNV Uncertain significance 649583 2:32476646-32476646 2:32251577-32251577
46 NLRC4 NM_001199138.2(NLRC4):c.281C>T (p.Ser94Leu)SNV Uncertain significance 663197 2:32476652-32476652 2:32251583-32251583
47 NLRC4 NM_001199138.2(NLRC4):c.103C>T (p.Arg35Cys)SNV Uncertain significance 662934 2:32477647-32477647 2:32252578-32252578
48 NLRC4 NM_001199138.2(NLRC4):c.2350+9T>ASNV Likely benign 542053 rs146103494 2:32466093-32466093 2:32241024-32241024
49 NLRC4 NM_001199138.2(NLRC4):c.2615-8T>CSNV Likely benign 542045 rs1553343121 2:32460645-32460645 2:32235576-32235576

UniProtKB/Swiss-Prot genetic disease variations for Familial Cold Autoinflammatory Syndrome 4:

73
# Symbol AA change Variation ID SNP ID
1 NLRC4 p.His443Pro VAR_072645 rs606231460

Expression for Familial Cold Autoinflammatory Syndrome 4

Search GEO for disease gene expression data for Familial Cold Autoinflammatory Syndrome 4.

Pathways for Familial Cold Autoinflammatory Syndrome 4

GO Terms for Familial Cold Autoinflammatory Syndrome 4

Sources for Familial Cold Autoinflammatory Syndrome 4

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