MCID: FML270
MIFTS: 19

Familial Cold Autoinflammatory Syndrome 4

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

Aliases & Classifications for Familial Cold Autoinflammatory Syndrome 4

MalaCards integrated aliases for Familial Cold Autoinflammatory Syndrome 4:

Name: Familial Cold Autoinflammatory Syndrome 4 57 12 75 29 6 73
Fcas4 57 75
Autoinflammatory, Cold, Familial, Syndrome, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
familial cold autoinflammatory syndrome 4:
Inheritance autosomal dominant inheritance
Onset and clinical course episodic


Classifications:



External Ids:

OMIM 57 616115
Disease Ontology 12 DOID:0090065
ICD10 33 L50.2
MeSH 44 D056587
SNOMED-CT via HPO 69 263681008 57676002
UMLS 73 C4015276

Summaries for Familial Cold Autoinflammatory Syndrome 4

UniProtKB/Swiss-Prot : 75 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, also known as fcas4, is related to autoinflammation with infantile enterocolitis and familial cold autoinflammatory syndrome. An important gene associated with Familial Cold Autoinflammatory Syndrome 4 is NLRC4 (NLR Family CARD Domain Containing 4). Related phenotype is arthralgia.

Disease Ontology : 12 A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of 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 heterozygous mutation in the NLRC4 gene on chromosome 2p22.

Description from OMIM: 616115

Related Diseases for Familial Cold Autoinflammatory Syndrome 4

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

# Related Disease Score Top Affiliating Genes
1 autoinflammation with infantile enterocolitis 9.2 NLRC4 SLC30A6
2 familial cold autoinflammatory syndrome 9.0 NLRC4 SLC30A6

Symptoms & Phenotypes for Familial Cold Autoinflammatory Syndrome 4

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
arthralgia, episodic

Metabolic Features:
fever, intermittent

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

Immunology:
autoinflammatory disorder


Clinical features from OMIM:

616115

Human phenotypes related to Familial Cold Autoinflammatory Syndrome 4:

32
# Description HPO Frequency HPO Source Accession
1 arthralgia 32 HP:0002829

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

Publications for Familial Cold Autoinflammatory Syndrome 4

Variations for Familial Cold Autoinflammatory Syndrome 4

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

75
# Symbol AA change Variation ID SNP ID
1 NLRC4 p.His443Pro VAR_072645 rs606231460

ClinVar genetic disease variations for Familial Cold Autoinflammatory Syndrome 4:

6
(show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRC4 NM_021209.4(NLRC4): c.1328A> C (p.His443Pro) single nucleotide variant Pathogenic rs606231460 GRCh38 Chromosome 2, 32250536: 32250536
2 NLRC4 NM_021209.4(NLRC4): c.1328A> C (p.His443Pro) single nucleotide variant Pathogenic rs606231460 GRCh37 Chromosome 2, 32475605: 32475605
3 NLRC4 NM_021209.4(NLRC4): c.2740T> C (p.Leu914=) single nucleotide variant Benign/Likely benign rs34716166 GRCh37 Chromosome 2, 32460512: 32460512
4 NLRC4 NM_021209.4(NLRC4): c.2740T> C (p.Leu914=) single nucleotide variant Benign/Likely benign rs34716166 GRCh38 Chromosome 2, 32235443: 32235443
5 NLRC4 NM_021209.4(NLRC4): c.2357G> T (p.Gly786Val) single nucleotide variant Benign rs149451729 GRCh37 Chromosome 2, 32463365: 32463365
6 NLRC4 NM_021209.4(NLRC4): c.2357G> T (p.Gly786Val) single nucleotide variant Benign rs149451729 GRCh38 Chromosome 2, 32238296: 32238296
7 NLRC4 NM_021209.4(NLRC4): c.1542A> G (p.Gln514=) single nucleotide variant Benign rs35653927 GRCh38 Chromosome 2, 32250322: 32250322
8 NLRC4 NM_021209.4(NLRC4): c.1542A> G (p.Gln514=) single nucleotide variant Benign rs35653927 GRCh37 Chromosome 2, 32475391: 32475391
9 NLRC4 NM_021209.4(NLRC4): c.2785G> T (p.Ala929Ser) single nucleotide variant Benign rs61754192 GRCh37 Chromosome 2, 32449832: 32449832
10 NLRC4 NM_021209.4(NLRC4): c.2785G> T (p.Ala929Ser) single nucleotide variant Benign rs61754192 GRCh38 Chromosome 2, 32224763: 32224763
11 NLRC4 NM_021209.4(NLRC4): c.2426A> G (p.Asp809Gly) single nucleotide variant Uncertain significance rs937306605 GRCh37 Chromosome 2, 32463296: 32463296
12 NLRC4 NM_021209.4(NLRC4): c.2426A> G (p.Asp809Gly) single nucleotide variant Uncertain significance rs937306605 GRCh38 Chromosome 2, 32238227: 32238227
13 NLRC4 NM_021209.4(NLRC4): c.2945C> G (p.Ala982Gly) single nucleotide variant Likely benign rs147896952 GRCh38 Chromosome 2, 32224603: 32224603
14 NLRC4 NM_021209.4(NLRC4): c.2945C> G (p.Ala982Gly) single nucleotide variant Likely benign rs147896952 GRCh37 Chromosome 2, 32449672: 32449672
15 NLRC4 NM_021209.4(NLRC4): c.3052G> A (p.Ala1018Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 32224496: 32224496
16 NLRC4 NM_021209.4(NLRC4): c.3052G> A (p.Ala1018Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 32449565: 32449565
17 NLRC4 NM_021209.4(NLRC4): c.2727C> T (p.Leu909=) single nucleotide variant Benign rs147980356 GRCh38 Chromosome 2, 32235456: 32235456
18 NLRC4 NM_021209.4(NLRC4): c.2727C> T (p.Leu909=) single nucleotide variant Benign rs147980356 GRCh37 Chromosome 2, 32460525: 32460525
19 NLRC4 NM_021209.4(NLRC4): c.2615-8T> C single nucleotide variant Likely benign GRCh38 Chromosome 2, 32235576: 32235576
20 NLRC4 NM_021209.4(NLRC4): c.2615-8T> C single nucleotide variant Likely benign GRCh37 Chromosome 2, 32460645: 32460645
21 NLRC4 NM_021209.4(NLRC4): c.2256G> A (p.Pro752=) single nucleotide variant Likely benign rs139310294 GRCh37 Chromosome 2, 32474677: 32474677
22 NLRC4 NM_021209.4(NLRC4): c.2256G> A (p.Pro752=) single nucleotide variant Likely benign rs139310294 GRCh38 Chromosome 2, 32249608: 32249608
23 NLRC4 NM_021209.4(NLRC4): c.2668T> C (p.Cys890Arg) single nucleotide variant Benign rs544969923 GRCh38 Chromosome 2, 32235515: 32235515
24 NLRC4 NM_021209.4(NLRC4): c.2668T> C (p.Cys890Arg) single nucleotide variant Benign rs544969923 GRCh37 Chromosome 2, 32460584: 32460584
25 NLRC4 NM_021209.4(NLRC4): c.1015C> A (p.Leu339Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 32250849: 32250849
26 NLRC4 NM_021209.4(NLRC4): c.1015C> A (p.Leu339Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 32475918: 32475918
27 NLRC4 NM_021209.4(NLRC4): c.2247A> G (p.Gln749=) single nucleotide variant Likely benign rs757751172 GRCh38 Chromosome 2, 32249617: 32249617
28 NLRC4 NM_021209.4(NLRC4): c.2247A> G (p.Gln749=) single nucleotide variant Likely benign rs757751172 GRCh37 Chromosome 2, 32474686: 32474686
29 NLRC4 NM_021209.4(NLRC4): c.1870T> A (p.Trp624Arg) single nucleotide variant Benign rs61741169 GRCh38 Chromosome 2, 32249994: 32249994
30 NLRC4 NM_021209.4(NLRC4): c.1870T> A (p.Trp624Arg) single nucleotide variant Benign rs61741169 GRCh37 Chromosome 2, 32475063: 32475063
31 NLRC4 NM_021209.4(NLRC4): c.90G> A (p.Trp30Ter) single nucleotide variant Uncertain significance rs148696946 GRCh37 Chromosome 2, 32477660: 32477660
32 NLRC4 NM_021209.4(NLRC4): c.90G> A (p.Trp30Ter) single nucleotide variant Uncertain significance rs148696946 GRCh38 Chromosome 2, 32252591: 32252591
33 NLRC4 NM_021209.4(NLRC4): c.2350+9T> A single nucleotide variant Likely benign rs146103494 GRCh37 Chromosome 2, 32466093: 32466093
34 NLRC4 NM_021209.4(NLRC4): c.2350+9T> A single nucleotide variant Likely benign rs146103494 GRCh38 Chromosome 2, 32241024: 32241024
35 NLRC4 NM_021209.4(NLRC4): c.1683A> G (p.Leu561=) single nucleotide variant Benign rs148632046 GRCh38 Chromosome 2, 32250181: 32250181
36 NLRC4 NM_021209.4(NLRC4): c.1683A> G (p.Leu561=) single nucleotide variant Benign rs148632046 GRCh37 Chromosome 2, 32475250: 32475250
37 NLRC4 NM_021209.4(NLRC4): c.1248G> A (p.Val416=) single nucleotide variant Benign rs377140938 GRCh37 Chromosome 2, 32475685: 32475685
38 NLRC4 NM_021209.4(NLRC4): c.1248G> A (p.Val416=) single nucleotide variant Benign rs377140938 GRCh38 Chromosome 2, 32250616: 32250616
39 NLRC4 NM_021209.4(NLRC4): c.478G> A (p.Ala160Thr) single nucleotide variant Likely benign rs113631419 GRCh38 Chromosome 2, 32251386: 32251386
40 NLRC4 NM_021209.4(NLRC4): c.478G> A (p.Ala160Thr) single nucleotide variant Likely benign rs113631419 GRCh37 Chromosome 2, 32476455: 32476455

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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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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