MCID: FML253
MIFTS: 28

Familial Cold Autoinflammatory Syndrome 3

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

Aliases & Classifications for Familial Cold Autoinflammatory Syndrome 3

MalaCards integrated aliases for Familial Cold Autoinflammatory Syndrome 3:

Name: Familial Cold Autoinflammatory Syndrome 3 57 12 75 29 13 6 73
Familial Atypical Cold Urticaria 57 59 75
Plaid 57 59 75
Facu 57 59 75
Fcas3 57 75
Antibody Deficiency and Immune Dysregulation, Plcg2-Associated; Plaid 57
Antibody Deficiency and Immune Dysregulation, Plcg2-Associated 57
Antibody Deficiency and Immune Dysregulation Placg2-Associated 75
Plcg2-Associated Antibody Deficiency and Immune Dysregulation 59
Familial Cold Urticaria with Common Variable Immunodeficiency 59
Autoinflammatory Syndrome, Cold, Familial, Type 3 40
Familial Atypical Cold Urticaria; Facu 57

Characteristics:

Orphanet epidemiological data:

59
plcg2-associated antibody deficiency and immune dysregulation
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in first 6 months of life
lifelong occurrence
symptoms may decrease after age 30 years
cutaneous symptoms induced by cold exposure or cooling


HPO:

32
familial cold autoinflammatory syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614468
Disease Ontology 12 DOID:0090064
ICD10 33 L50.2
Orphanet 59 ORPHA300359
ICD10 via Orphanet 34 L50.2
MedGen 42 C3280914
MeSH 44 D056587
UMLS 73 C3280914

Summaries for Familial Cold Autoinflammatory Syndrome 3

OMIM : 57 Familial cold autoinflammatory syndrome-2 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by Ombrello et al., 2012). For a discussion of genetic heterogeneity of FCAS, see FCAS1 (120100). (614468)

MalaCards based summary : Familial Cold Autoinflammatory Syndrome 3, also known as familial atypical cold urticaria, is related to autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated and urticaria. An important gene associated with Familial Cold Autoinflammatory Syndrome 3 is PLCG2 (Phospholipase C Gamma 2). Affiliated tissues include b cells, thyroid and nk cells, and related phenotypes are hashimoto thyroiditis and urticaria

UniProtKB/Swiss-Prot : 75 Familial cold autoinflammatory syndrome 3: An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B-cells, defective B-cells, increased susceptibility to infection, and increased risk of autoimmune disorders.

Disease Ontology : 12 A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has material basis in heterozygous deletion within the PLCG2 gene on chromosome 16q.

Related Diseases for Familial Cold Autoinflammatory Syndrome 3

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

# Related Disease Score Top Affiliating Genes
1 autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated 12.8
2 urticaria 10.0
3 cold urticaria 10.0

Symptoms & Phenotypes for Familial Cold Autoinflammatory Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Immunology:
vitiligo
recurrent infections
decreased serum iga
increased serum ige
decreased serum igm
more
Skin Nails Hair Skin:
granulomatous dermatitis (in some patients)
urticaria, cold-induced
erythema, cold-induced
pruritis, cold-induced
increased mast cells
more
Head And Neck Nose:
allergic rhinitis

Respiratory Airways:
asthma (in some patients)


Clinical features from OMIM:

614468

Human phenotypes related to Familial Cold Autoinflammatory Syndrome 3:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hashimoto thyroiditis 32 HP:0000872
2 urticaria 32 HP:0001025
3 vitiligo 32 HP:0001045
4 asthma 32 occasional (7.5%) HP:0002099
5 recurrent infections 32 HP:0002719
6 immune dysregulation 32 HP:0002958
7 allergic rhinitis 32 HP:0003193

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome 3

Search Clinical Trials , NIH Clinical Center for Familial Cold Autoinflammatory Syndrome 3

Genetic Tests for Familial Cold Autoinflammatory Syndrome 3

Genetic tests related to Familial Cold Autoinflammatory Syndrome 3:

# Genetic test Affiliating Genes
1 Familial Cold Autoinflammatory Syndrome 3 29 PLCG2

Anatomical Context for Familial Cold Autoinflammatory Syndrome 3

MalaCards organs/tissues related to Familial Cold Autoinflammatory Syndrome 3:

41
B Cells, Thyroid, Nk Cells, Skin, Bone

Publications for Familial Cold Autoinflammatory Syndrome 3

Articles related to Familial Cold Autoinflammatory Syndrome 3:

# Title Authors Year
1
Familial Atypical Cold Urticaria Localized on the Face: A Case Report. ( 23695027 )
2014
2
Familial atypical cold urticaria: description of a new hereditary disease. ( 19910034 )
2009

Variations for Familial Cold Autoinflammatory Syndrome 3

ClinVar genetic disease variations for Familial Cold Autoinflammatory Syndrome 3:

6
(show top 50) (show all 135)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLCG2 PLCG2, 5.9-KB DEL deletion Pathogenic
2 PLCG2 PLCG2, 8.2-KB DEL deletion Pathogenic
3 PLCG2 PLCG2, 4.8-KB DEL deletion Pathogenic
4 PLCG2 NM_002661.4(PLCG2): c.82A> T (p.Met28Leu) single nucleotide variant Benign rs61749044 GRCh38 Chromosome 16, 81786071: 81786071
5 PLCG2 NM_002661.4(PLCG2): c.82A> T (p.Met28Leu) single nucleotide variant Benign rs61749044 GRCh37 Chromosome 16, 81819676: 81819676
6 PLCG2 NM_002661.4(PLCG2): c.1565C> G (p.Pro522Arg) single nucleotide variant Benign/Likely benign rs72824905 GRCh37 Chromosome 16, 81942028: 81942028
7 PLCG2 NM_002661.4(PLCG2): c.1565C> G (p.Pro522Arg) single nucleotide variant Benign/Likely benign rs72824905 GRCh38 Chromosome 16, 81908423: 81908423
8 PLCG2 NM_002661.4(PLCG2): c.770A> T (p.His257Leu) single nucleotide variant Benign rs45443101 GRCh37 Chromosome 16, 81922781: 81922781
9 PLCG2 NM_002661.4(PLCG2): c.770A> T (p.His257Leu) single nucleotide variant Benign rs45443101 GRCh38 Chromosome 16, 81889176: 81889176
10 PLCG2 NM_002661.4(PLCG2): c.1444T> C (p.Tyr482His) single nucleotide variant Benign rs187956469 GRCh37 Chromosome 16, 81939089: 81939089
11 PLCG2 NM_002661.4(PLCG2): c.1444T> C (p.Tyr482His) single nucleotide variant Benign rs187956469 GRCh38 Chromosome 16, 81905484: 81905484
12 PLCG2 NM_002661.4(PLCG2): c.1712A> G (p.Asn571Ser) single nucleotide variant Benign rs75472618 GRCh37 Chromosome 16, 81942175: 81942175
13 PLCG2 NM_002661.4(PLCG2): c.1712A> G (p.Asn571Ser) single nucleotide variant Benign rs75472618 GRCh38 Chromosome 16, 81908570: 81908570
14 PLCG2 NM_002661.4(PLCG2): c.2011A> G (p.Ile671Val) single nucleotide variant Benign rs150833842 GRCh37 Chromosome 16, 81946278: 81946278
15 PLCG2 NM_002661.4(PLCG2): c.2011A> G (p.Ile671Val) single nucleotide variant Benign rs150833842 GRCh38 Chromosome 16, 81912673: 81912673
16 PLCG2 NM_002661.4(PLCG2): c.2324A> G (p.Lys775Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142825971 GRCh37 Chromosome 16, 81957106: 81957106
17 PLCG2 NM_002661.4(PLCG2): c.2324A> G (p.Lys775Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142825971 GRCh38 Chromosome 16, 81923501: 81923501
18 PLCG2 NM_002661.4(PLCG2): c.2542C> T (p.Leu848Phe) single nucleotide variant Benign/Likely benign rs114618894 GRCh37 Chromosome 16, 81962190: 81962190
19 PLCG2 NM_002661.4(PLCG2): c.2542C> T (p.Leu848Phe) single nucleotide variant Benign/Likely benign rs114618894 GRCh38 Chromosome 16, 81928585: 81928585
20 PLCG2 NM_002661.4(PLCG2): c.1107C> T (p.Val369=) single nucleotide variant Benign rs201652976 GRCh38 Chromosome 16, 81895841: 81895841
21 PLCG2 NM_002661.4(PLCG2): c.1107C> T (p.Val369=) single nucleotide variant Benign rs201652976 GRCh37 Chromosome 16, 81929446: 81929446
22 PLCG2 NM_002661.4(PLCG2): c.1882G> C (p.Glu628Gln) single nucleotide variant Uncertain significance rs778265649 GRCh38 Chromosome 16, 81910668: 81910668
23 PLCG2 NM_002661.4(PLCG2): c.1882G> C (p.Glu628Gln) single nucleotide variant Uncertain significance rs778265649 GRCh37 Chromosome 16, 81944273: 81944273
24 PLCG2 NM_002661.4(PLCG2): c.2916C> T (p.Val972=) single nucleotide variant Benign rs1143690 GRCh38 Chromosome 16, 81936242: 81936242
25 PLCG2 NM_002661.4(PLCG2): c.2916C> T (p.Val972=) single nucleotide variant Benign rs1143690 GRCh37 Chromosome 16, 81969847: 81969847
26 PLCG2 NM_002661.4(PLCG2): c.3125G> C (p.Ser1042Thr) single nucleotide variant Benign rs114262189 GRCh38 Chromosome 16, 81937830: 81937830
27 PLCG2 NM_002661.4(PLCG2): c.3125G> C (p.Ser1042Thr) single nucleotide variant Benign rs114262189 GRCh37 Chromosome 16, 81971435: 81971435
28 PLCG2 NM_002661.4(PLCG2): c.957T> C (p.Ser319=) single nucleotide variant Likely benign rs527737546 GRCh37 Chromosome 16, 81925166: 81925166
29 PLCG2 NM_002661.4(PLCG2): c.957T> C (p.Ser319=) single nucleotide variant Likely benign rs527737546 GRCh38 Chromosome 16, 81891561: 81891561
30 PLCG2 NM_002661.4(PLCG2): c.987G> A (p.Thr329=) single nucleotide variant Benign rs200506549 GRCh37 Chromosome 16, 81927314: 81927314
31 PLCG2 NM_002661.4(PLCG2): c.987G> A (p.Thr329=) single nucleotide variant Benign rs200506549 GRCh38 Chromosome 16, 81893709: 81893709
32 PLCG2 NM_002661.4(PLCG2): c.1072C> T (p.Leu358=) single nucleotide variant Uncertain significance rs377757324 GRCh37 Chromosome 16, 81927399: 81927399
33 PLCG2 NM_002661.4(PLCG2): c.1072C> T (p.Leu358=) single nucleotide variant Uncertain significance rs377757324 GRCh38 Chromosome 16, 81893794: 81893794
34 PLCG2 NM_002661.4(PLCG2): c.2054+7G> A single nucleotide variant Benign rs138158454 GRCh37 Chromosome 16, 81946328: 81946328
35 PLCG2 NM_002661.4(PLCG2): c.2054+7G> A single nucleotide variant Benign rs138158454 GRCh38 Chromosome 16, 81912723: 81912723
36 PLCG2 NM_002661.4(PLCG2): c.731A> G (p.His244Arg) single nucleotide variant Benign rs11548656 GRCh37 Chromosome 16, 81916912: 81916912
37 PLCG2 NM_002661.4(PLCG2): c.731A> G (p.His244Arg) single nucleotide variant Benign rs11548656 GRCh38 Chromosome 16, 81883307: 81883307
38 PLCG2 NM_002661.4(PLCG2): c.923C> T (p.Ala308Val) single nucleotide variant Benign rs199636472 GRCh37 Chromosome 16, 81925132: 81925132
39 PLCG2 NM_002661.4(PLCG2): c.923C> T (p.Ala308Val) single nucleotide variant Benign rs199636472 GRCh38 Chromosome 16, 81891527: 81891527
40 PLCG2 NM_002661.4(PLCG2): c.1146T> C (p.Phe382=) single nucleotide variant Benign rs138637229 GRCh37 Chromosome 16, 81929485: 81929485
41 PLCG2 NM_002661.4(PLCG2): c.1146T> C (p.Phe382=) single nucleotide variant Benign rs138637229 GRCh38 Chromosome 16, 81895880: 81895880
42 PLCG2 NM_002661.4(PLCG2): c.1557+6G> C single nucleotide variant Benign rs139565830 GRCh37 Chromosome 16, 81941385: 81941385
43 PLCG2 NM_002661.4(PLCG2): c.1557+6G> C single nucleotide variant Benign rs139565830 GRCh38 Chromosome 16, 81907780: 81907780
44 PLCG2 NM_002661.4(PLCG2): c.2094C> T (p.Asp698=) single nucleotide variant Benign rs143195637 GRCh37 Chromosome 16, 81953128: 81953128
45 PLCG2 NM_002661.4(PLCG2): c.2094C> T (p.Asp698=) single nucleotide variant Benign rs143195637 GRCh38 Chromosome 16, 81919523: 81919523
46 PLCG2 NM_002661.4(PLCG2): c.3414A> G (p.Glu1138=) single nucleotide variant Benign rs61755443 GRCh37 Chromosome 16, 81973597: 81973597
47 PLCG2 NM_002661.4(PLCG2): c.3414A> G (p.Glu1138=) single nucleotide variant Benign rs61755443 GRCh38 Chromosome 16, 81939992: 81939992
48 PLCG2 NM_002661.4(PLCG2): c.2262C> T (p.Asp754=) single nucleotide variant Benign rs74032923 GRCh37 Chromosome 16, 81954829: 81954829
49 PLCG2 NM_002661.4(PLCG2): c.2262C> T (p.Asp754=) single nucleotide variant Benign rs74032923 GRCh38 Chromosome 16, 81921224: 81921224
50 PLCG2 NM_002661.4(PLCG2): c.565-10A> G single nucleotide variant Benign rs62046684 GRCh38 Chromosome 16, 81870842: 81870842

Expression for Familial Cold Autoinflammatory Syndrome 3

Search GEO for disease gene expression data for Familial Cold Autoinflammatory Syndrome 3.

Pathways for Familial Cold Autoinflammatory Syndrome 3

GO Terms for Familial Cold Autoinflammatory Syndrome 3

Sources for Familial Cold Autoinflammatory Syndrome 3

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
Content
Loading form....