FCAS3
MCID: FML253
MIFTS: 49

Familial Cold Autoinflammatory Syndrome 3 (FCAS3)

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 3

MalaCards integrated aliases for Familial Cold Autoinflammatory Syndrome 3:

Name: Familial Cold Autoinflammatory Syndrome 3 57 12 43 72 29 13 6 15 70
Familial Atypical Cold Urticaria 57 43 58 72
Plaid 57 43 58 72
Facu 57 43 58 72
Fcas3 57 43 72
Antibody Deficiency and Immune Dysregulation, Plcg2-Associated 57 43
Plcg2-Associated Antibody Deficiency and Immune Dysregulation 43 58
Familial Cold Urticaria with Common Variable Immunodeficiency 43 58
Antibody Deficiency and Immune Dysregulation, Plcg2-Associated; Plaid 57
Antibody Deficiency and Immune Dysregulation Placg2-Associated 72
Plcg2 Associated Antibody Deficiency and Immune Dysregulation 43
Autoinflammatory Syndrome, Cold, Familial, Type 3 39
Familial Atypical Cold Urticaria; Facu 57

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
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:

31
familial cold autoinflammatory syndrome 3:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset childhood onset


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Rare immunological diseases


Summaries for Familial Cold Autoinflammatory Syndrome 3

MedlinePlus Genetics : 43 PLCG2-associated antibody deficiency and immune dysregulation (PLAID) is an immune system disorder characterized by an allergic reaction to cold temperatures. Other immune system problems can also occur. The hallmark feature of PLAID is the development of a red, itchy rash (hives) when the skin is exposed to cool temperatures, which is known as cold urticaria. In PLAID, the hives typically develop in response to evaporative cooling, such as when a cool breeze or air conditioning blows on damp or sweaty skin. Being in a cold swimming pool can also trigger hives. In contrast, people with PLAID do not have a reaction when they touch a cold object, like an ice cube. (The ice cube test is a common test for a cold allergy; it triggers a reaction in people with other forms of cold urticaria, which usually begin later in life than PLAID.) However, some people with PLAID do experience a burning sensation in their throats when they eat cold foods, like ice cream. In PLAID, the hives go away once the skin warms up. Prolonged exposure to cold can lead to loss of consciousness or a serious allergic reaction known as anaphylaxis.Other skin problems can also occur in PLAID. A small number of affected individuals develop a blistering rash on the tip of their nose, ears, and fingers shortly after birth. The rash usually heals on its own in infancy, although in rare cases, it worsens over time. After the initial rash goes away, a different rash sometimes develops on the torso and limbs later in life. This rash, called a granuloma, can affect small patches of skin or be widespread. In people with PLAID, the granulomas do not occur in warm regions of the body, such as the armpits and other skin folds.In many people with PLAID, immune system function is reduced, leading to recurrent infections such as frequent colds, ear infections, or bouts of pneumonia. The infections are likely related to lower-than-normal levels of special proteins called antibodies or immunoglobulins, particularly immunoglobulin M (IgM) or immunoglobulin G (IgG). Antibodies attach to specific foreign particles and germs, marking them for destruction. The number of immune system cells called natural killer (NK) cells may also be reduced.Autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs, can also occur. Autoimmune disorders associated with PLAID include autoimmune thyroiditis and vitiligo. Autoimmune thyroiditis results from damage to the butterfly-shaped, hormone-producing gland in the lower neck (the thyroid). Vitiligo is caused by attacks on the pigment cells in the skin, resulting in a patchy loss of skin coloration. Most people with PLAID have abnormal antibodies called autoantibodies in their blood. One such antibody common in people with PLAID is known as antinuclear antibody (ANA). Autoantibodies attach to normal proteins and can trigger an immune attack against the body's own tissues. However, not everyone with these abnormal antibodies has an autoimmune disease.

MalaCards based summary : Familial Cold Autoinflammatory Syndrome 3, also known as familial atypical cold urticaria, is related to autoinflammation, antibody deficiency, and immune dysregulation and familial mediterranean fever. An important gene associated with Familial Cold Autoinflammatory Syndrome 3 is PLCG2 (Phospholipase C Gamma 2), and among its related pathways/superpathways is Phospholipase D signaling pathway. The drugs Lisinopril and Cardiotonic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, b cells and nk cells, and related phenotypes are recurrent otitis media and hashimoto thyroiditis

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.

OMIM® : 57 Familial cold autoinflammatory syndrome-3 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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.

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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 autoinflammation, antibody deficiency, and immune dysregulation 12.0
2 familial mediterranean fever 10.3
3 exanthem 10.3
4 brucellosis 10.3
5 urticaria 10.2
6 cold urticaria 10.2
7 familial cold autoinflammatory syndrome 10.1
8 angioedema 10.1
9 syncope 10.1
10 autoinflammatory syndrome 10.1
11 methylmalonic aciduria and homocystinuria, cblc type 9.4 SUOX DGKE

Graphical network of the top 20 diseases related to Familial Cold Autoinflammatory Syndrome 3:



Diseases related to Familial Cold Autoinflammatory Syndrome 3

Symptoms & Phenotypes for Familial Cold Autoinflammatory Syndrome 3

Human phenotypes related to Familial Cold Autoinflammatory Syndrome 3:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 31 very rare (1%) HP:0000403
2 hashimoto thyroiditis 31 very rare (1%) HP:0000872
3 vitiligo 31 very rare (1%) HP:0001045
4 asthma 31 very rare (1%) HP:0002099
5 erythema 31 very rare (1%) HP:0010783
6 pruritus 31 very rare (1%) HP:0000989
7 recurrent sinopulmonary infections 31 very rare (1%) HP:0005425
8 angioedema 31 very rare (1%) HP:0100665
9 antinuclear antibody positivity 31 very rare (1%) HP:0003493
10 dermatographic urticaria 31 very rare (1%) HP:0011971
11 onychomycosis 31 very rare (1%) HP:0012203
12 allergic rhinitis 31 very rare (1%) HP:0003193
13 presyncope 31 very rare (1%) HP:0031972
14 cold urticaria 31 very rare (1%) HP:0410135

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Familial Cold Autoinflammatory Syndrome 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.44 DGKE PLCG2
2 Decreased viability GR00055-A-2 9.44 DGKE PLCG2
3 Decreased viability GR00221-A-1 9.44 DGKE PLCG2
4 Decreased viability GR00221-A-2 9.44 DGKE
5 Decreased viability GR00221-A-3 9.44 DGKE
6 Decreased viability GR00240-S-1 9.44 DGKE
7 Decreased viability GR00249-S 9.44 DGKE PLCG2
8 Decreased viability GR00301-A 9.44 DGKE
9 Decreased viability GR00386-A-1 9.44 PLCG2
10 Decreased cell migration GR00055-A-3 8.65 PLCG2

Drugs & Therapeutics for Familial Cold Autoinflammatory Syndrome 3

Drugs for Familial Cold Autoinflammatory Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
2 Cardiotonic Agents Phase 4
3 Antihypertensive Agents Phase 4
4 Angiotensin-Converting Enzyme Inhibitors Phase 4
5 Protective Agents Phase 4
6
protease inhibitors Phase 4
7 HIV Protease Inhibitors Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prophylactic Lisinopril to Prevent Anthracycline Induced Left Ventricular Systolic Dysfunction (PLAID) Study. Unknown status NCT03392740 Phase 4 Lisinopril;Placebo Oral Tablet
2 Natural History of Atopic Dermatitis and Other Genetic/Congenital Diseases Associated With Allergic Inflammation Recruiting NCT01164241

Search 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:

40
Skin, B Cells, Nk Cells, Cortex, Eye, Brain, Retina

Publications for Familial Cold Autoinflammatory Syndrome 3

Articles related to Familial Cold Autoinflammatory Syndrome 3:

(show top 50) (show all 354)
# Title Authors PMID Year
1
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. 57 6
22236196 2012
2
Familial atypical cold urticaria: description of a new hereditary disease. 57
19910034 2009
3
Parameter dependence in visual pattern-component rivalry at onset and during prolonged viewing. 61
33610002 2021
4
Severe epidermolysis bullosa/Kindler syndrome-like phenotype of an autoinflammatory syndrome in a child. 61
33625737 2021
5
FBCwPlaid: A Functional Bi-clustering Analysis of Epi-transcriptome Profiling Data via a Weighted Plaid Model. 61
33400655 2021
6
Double dissociation in radial and rotational motion sensitivity. 61
33508003 2021
7
Random effects models for complex designs. 61
32674659 2020
8
On the Use of Concentrated Time-Frequency Representations as Input to a Deep Convolutional Neural Network: Application to Non Intrusive Load Monitoring. 61
33286680 2020
9
Pigeons (Columba livia) integrate visual motion using the vector average rule: effect of viewing distance. 61
32242297 2020
10
Simple Shading Correction Method for Brightfield Whole Slide Imaging. 61
32485985 2020
11
Theory of the perceived motion direction of equal-spatial-frequency plaid stimuli. 61
32223283 2020
12
Interaction between steady-state visually evoked potentials at nearby flicker frequencies. 61
32210321 2020
13
Plaid Detectors in Macaque V1 Revealed by Two-Photon Calcium Imaging. 61
32084400 2020
14
A voltage and current measurement dataset for plug load appliance identification in households. 61
32051418 2020
15
Coloring Activities for Anxiety Reduction and Mood Improvement in Taiwanese Community-Dwelling Older Adults: A Randomized Controlled Study. 61
32063986 2020
16
PLAID syndrome: Characteristic presentation and a novel therapeutic option. 61
31633221 2020
17
Contingent adaptation in masking and surround suppression. 61
31862645 2020
18
Global depth perception alters local timing sensitivity. 61
31971977 2020
19
Identifying gene-specific subgroups: an alternative to biclustering. 61
31795929 2019
20
Does surface dyslexia/dysgraphia relate to semantic deficits in the semantic variant of primary progressive aphasia? 61
31682928 2019
21
What the SNP, Plaid Cymru, the DUP, and Greens are promising the NHS. 61
31811015 2019
22
Competition between salience and informational value for saccade adaptation. 61
31880782 2019
23
Responses of neurons in macaque MT to unikinetic plaids. 61
31509468 2019
24
Individual differences point to two separate processes involved in the resolution of binocular rivalry. 61
31622474 2019
25
Pigeons integrate visual motion signals differently than humans. 61
31527647 2019
26
Heterochromatin drives compartmentalization of inverted and conventional nuclei. 61
31168090 2019
27
Attentional selection in judgments of stereo depth. 61
30771360 2019
28
Short-term global motion adaptation induces a compression in the subjective duration of dynamic visual events. 61
31112240 2019
29
Two paradigms of bistable plaid motion reveal independent mutual inhibition processes. 61
30943533 2019
30
Perception of 3D slant from textures with and without aligned spectral components. 61
30943535 2019
31
The direction after-effect is a global motion phenomenon. 61
31032060 2019
32
Disentangling locus of perceptual learning in the visual hierarchy of motion processing. 61
30733535 2019
33
Pattern Motion Processing by MT Neurons. 61
31293393 2019
34
Bottom-up modeling of chromatin segregation due to epigenetic modifications. 61
30478042 2018
35
The contribution of local and global motion adaptation in the repulsive direction aftereffect. 61
30458510 2018
36
Superior Visual Timing Sensitivity in Auditory But Not Visual World Class Drum Corps Experts. 61
30627642 2018
37
Temporal Contingencies Determine Whether Adaptation Strengthens or Weakens Normalization. 61
30291205 2018
38
Visual Motion Processing in Macaque V2. 61
30282025 2018
39
Relationship of Depth Adaptation Between Disparity-Specified Plaids and Their Components. 61
30245800 2018
40
Functional characterization of phospholipase C-γ2 mutant protein causing both somatic ibrutinib resistance and a germline monogenic autoinflammatory disorder. 61
30344948 2018
41
Climate-driven ecological stability as a globally shared cause of Late Quaternary megafaunal extinctions: the Plaids and Stripes Hypothesis. 61
30136433 2018
42
A Method to Create a Horizontal Resistance Layer by Injection of a Viscous Fluid: PLAID. 61
29603195 2018
43
Orientation-selective contrast adaptation measured with SSVEP. 61
29715332 2018
44
Combined fMRI- and eye movement-based decoding of bistable plaid motion perception. 61
29294388 2018
45
Real-time visual interactions across the boundary of awareness. 61
29691414 2018
46
Biomarker Identification for Cancer Disease Using Biclustering Approach: An Empirical Study. 61
29993834 2018
47
Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa. 61
30619256 2018
48
The Independent and Shared Mechanisms of Intrinsic Brain Dynamics: Insights From Bistable Perception. 61
29740374 2018
49
Alexithymia and Autism Spectrum Disorder: A Complex Relationship. 61
30065681 2018
50
Globally Normal Bistable Motion Perception of Anisometropic Amblyopes May Profit From an Unusual Coding Mechanism. 61
29930497 2018

Variations for Familial Cold Autoinflammatory Syndrome 3

ClinVar genetic disease variations for Familial Cold Autoinflammatory Syndrome 3:

6 (show top 50) (show all 302)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLCG2 PLCG2, 5.9-KB DEL Deletion Pathogenic 30050 GRCh37:
GRCh38:
2 PLCG2 PLCG2, 8.2-KB DEL Deletion Pathogenic 30051 GRCh37:
GRCh38:
3 PLCG2 PLCG2, 4.8-KB DEL Deletion Pathogenic 30052 GRCh37:
GRCh38:
4 PLCG2 NM_002661.5(PLCG2):c.1072C>T (p.Leu358=) SNV Uncertain significance 472886 rs377757324 GRCh37: 16:81927399-81927399
GRCh38: 16:81893794-81893794
5 PLCG2 NM_002661.5(PLCG2):c.2152A>G (p.Ser718Gly) SNV Uncertain significance 540095 rs767628464 GRCh37: 16:81953186-81953186
GRCh38: 16:81919581-81919581
6 PLCG2 NM_002661.5(PLCG2):c.547C>T (p.Leu183Phe) SNV Uncertain significance 540096 rs772451566 GRCh37: 16:81902886-81902886
GRCh38: 16:81869281-81869281
7 PLCG2 NM_002661.5(PLCG2):c.942G>A (p.Met314Ile) SNV Uncertain significance 540097 rs1555517092 GRCh37: 16:81925151-81925151
GRCh38: 16:81891546-81891546
8 PLCG2 NM_002661.5(PLCG2):c.2660A>C (p.Glu887Ala) SNV Uncertain significance 540098 rs369092713 GRCh37: 16:81965180-81965180
GRCh38: 16:81931575-81931575
9 PLCG2 NM_002661.5(PLCG2):c.1698C>T (p.Ser566=) SNV Uncertain significance 540100 rs11548654 GRCh37: 16:81942161-81942161
GRCh38: 16:81908556-81908556
10 PLCG2 NM_002661.5(PLCG2):c.2501A>C (p.Glu834Ala) SNV Uncertain significance 540102 rs754958154 GRCh37: 16:81960770-81960770
GRCh38: 16:81927165-81927165
11 PLCG2 NM_002661.5(PLCG2):c.3422T>A (p.Met1141Lys) SNV Uncertain significance 540103 rs958943394 GRCh37: 16:81973605-81973605
GRCh38: 16:81940000-81940000
12 PLCG2 NM_002661.5(PLCG2):c.173C>T (p.Ala58Val) SNV Uncertain significance 540105 rs753845661 GRCh37: 16:81819767-81819767
GRCh38: 16:81786162-81786162
13 PLCG2 NM_002661.5(PLCG2):c.784C>G (p.Leu262Val) SNV Uncertain significance 540106 rs372563994 GRCh37: 16:81922795-81922795
GRCh38: 16:81889190-81889190
14 PLCG2 NM_002661.5(PLCG2):c.1971G>C (p.Glu657Asp) SNV Uncertain significance 472893 rs758439876 GRCh37: 16:81946238-81946238
GRCh38: 16:81912633-81912633
15 PLCG2 NM_002661.5(PLCG2):c.827C>A (p.Thr276Asn) SNV Uncertain significance 565434 rs1567517826 GRCh37: 16:81922838-81922838
GRCh38: 16:81889233-81889233
16 PLCG2 NM_002661.5(PLCG2):c.2054+8C>T SNV Uncertain significance 566001 rs757609061 GRCh37: 16:81946329-81946329
GRCh38: 16:81912724-81912724
17 PLCG2 NM_002661.5(PLCG2):c.1595G>C (p.Trp532Ser) SNV Uncertain significance 568052 rs370429726 GRCh37: 16:81942058-81942058
GRCh38: 16:81908453-81908453
18 PLCG2 NM_002661.5(PLCG2):c.3109G>A (p.Val1037Ile) SNV Uncertain significance 568526 rs373561919 GRCh37: 16:81971419-81971419
GRCh38: 16:81937814-81937814
19 PLCG2 NM_002661.5(PLCG2):c.1923C>G (p.His641Gln) SNV Uncertain significance 568775 rs374927413 GRCh37: 16:81944314-81944314
GRCh38: 16:81910709-81910709
20 PLCG2 NM_002661.5(PLCG2):c.707C>T (p.Pro236Leu) SNV Uncertain significance 569216 rs199760975 GRCh37: 16:81916888-81916888
GRCh38: 16:81883283-81883283
21 PLCG2 NM_002661.5(PLCG2):c.337+2T>C SNV Uncertain significance 569439 rs866001196 GRCh37: 16:81888194-81888194
GRCh38: 16:81854589-81854589
22 PLCG2 NM_002661.5(PLCG2):c.2931C>G (p.Tyr977Ter) SNV Uncertain significance 571026 rs1016837424 GRCh37: 16:81969862-81969862
GRCh38: 16:81936257-81936257
23 PLCG2 NM_002661.5(PLCG2):c.1778A>G (p.Glu593Gly) SNV Uncertain significance 571262 rs776632754 GRCh37: 16:81944169-81944169
GRCh38: 16:81910564-81910564
24 PLCG2 NM_002661.5(PLCG2):c.3388G>T (p.Ala1130Ser) SNV Uncertain significance 571352 rs1003946385 GRCh37: 16:81973571-81973571
GRCh38: 16:81939966-81939966
25 PLCG2 NM_002661.5(PLCG2):c.3397C>T (p.Arg1133Cys) SNV Uncertain significance 571483 rs779014379 GRCh37: 16:81973580-81973580
GRCh38: 16:81939975-81939975
26 PLCG2 NM_002661.5(PLCG2):c.1086C>G (p.Asp362Glu) SNV Uncertain significance 574176 rs375876385 GRCh37: 16:81929425-81929425
GRCh38: 16:81895820-81895820
27 PLCG2 NM_002661.5(PLCG2):c.617A>T (p.Tyr206Phe) SNV Uncertain significance 574390 rs766231080 GRCh37: 16:81904509-81904509
GRCh38: 16:81870904-81870904
28 PLCG2 NM_002661.5(PLCG2):c.3004C>T (p.Leu1002Phe) SNV Uncertain significance 574443 rs977656147 GRCh37: 16:81969935-81969935
GRCh38: 16:81936330-81936330
29 PLCG2 NM_002661.5(PLCG2):c.1934+4C>T SNV Uncertain significance 575238 rs370532346 GRCh37: 16:81944329-81944329
GRCh38: 16:81910724-81910724
30 PLCG2 NM_002661.5(PLCG2):c.751A>G (p.Ile251Val) SNV Uncertain significance 576679 rs190840748 GRCh37: 16:81916932-81916932
GRCh38: 16:81883327-81883327
31 PLCG2 NM_002661.5(PLCG2):c.2031C>T (p.Ser677=) SNV Uncertain significance 626149 rs759929786 GRCh37: 16:81946298-81946298
GRCh38: 16:81912693-81912693
32 PLCG2 NM_002661.5(PLCG2):c.1406A>G (p.Glu469Gly) SNV Uncertain significance 640699 rs1597121726 GRCh37: 16:81939051-81939051
GRCh38: 16:81905446-81905446
33 PLCG2 NM_002661.5(PLCG2):c.2307+4C>T SNV Uncertain significance 641186 rs745912221 GRCh37: 16:81954878-81954878
GRCh38: 16:81921273-81921273
34 PLCG2 NM_002661.5(PLCG2):c.2581+4C>T SNV Uncertain significance 642596 rs374905431 GRCh37: 16:81962233-81962233
GRCh38: 16:81928628-81928628
35 PLCG2 NM_002661.5(PLCG2):c.3730C>G (p.Leu1244Val) SNV Uncertain significance 643069 rs200800716 GRCh37: 16:81990459-81990459
GRCh38: 16:81956854-81956854
36 PLCG2 NM_002661.5(PLCG2):c.3034C>T (p.Leu1012Phe) SNV Uncertain significance 643662 rs1597143704 GRCh37: 16:81969965-81969965
GRCh38: 16:81936360-81936360
37 PLCG2 NM_002661.5(PLCG2):c.3569T>C (p.Leu1190Pro) SNV Uncertain significance 643738 rs1287516481 GRCh37: 16:81979867-81979867
GRCh38: 16:81946262-81946262
38 PLCG2 NM_002661.5(PLCG2):c.1427A>G (p.Lys476Arg) SNV Uncertain significance 643739 rs781145125 GRCh37: 16:81939072-81939072
GRCh38: 16:81905467-81905467
39 PLCG2 NM_002661.5(PLCG2):c.3544G>A (p.Val1182Ile) SNV Uncertain significance 643897 rs759887275 GRCh37: 16:81979842-81979842
GRCh38: 16:81946237-81946237
40 PLCG2 NM_002661.5(PLCG2):c.506T>G (p.Ile169Ser) SNV Uncertain significance 644054 rs1597364394 GRCh37: 16:81902845-81902845
GRCh38: 16:81869240-81869240
41 PLCG2 NM_002661.5(PLCG2):c.2099G>A (p.Arg700Gln) SNV Uncertain significance 645934 rs566611968 GRCh37: 16:81953133-81953133
GRCh38: 16:81919528-81919528
42 PLCG2 NM_002661.5(PLCG2):c.1381_1382delinsTT (p.Arg461Leu) Indel Uncertain significance 646559 rs1597121708 GRCh37: 16:81939026-81939027
GRCh38: 16:81905421-81905422
43 PLCG2 NM_002661.5(PLCG2):c.3414_3416AGA[1] (p.Glu1139del) Microsatellite Uncertain significance 646947 rs1597146407 GRCh37: 16:81973595-81973597
GRCh38: 16:81939990-81939992
44 PLCG2 NM_002661.5(PLCG2):c.3393T>A (p.Phe1131Leu) SNV Uncertain significance 649892 rs754374903 GRCh37: 16:81973576-81973576
GRCh38: 16:81939971-81939971
45 PLCG2 NM_002661.5(PLCG2):c.127G>T (p.Val43Phe) SNV Uncertain significance 649893 rs370352962 GRCh37: 16:81819721-81819721
GRCh38: 16:81786116-81786116
46 PLCG2 NM_002661.5(PLCG2):c.3166_3167delinsTT (p.Gln1056Leu) Indel Uncertain significance 651616 rs1597144802 GRCh37: 16:81971476-81971477
GRCh38: 16:81937871-81937872
47 PLCG2 NM_002661.5(PLCG2):c.2097C>T (p.Gly699=) SNV Uncertain significance 652098 rs1597132176 GRCh37: 16:81953131-81953131
GRCh38: 16:81919526-81919526
48 PLCG2 NM_002661.5(PLCG2):c.3275C>A (p.Ala1092Asp) SNV Uncertain significance 656314 rs763763571 GRCh37: 16:81972482-81972482
GRCh38: 16:81938877-81938877
49 PLCG2 NM_002661.5(PLCG2):c.2485A>G (p.Thr829Ala) SNV Uncertain significance 656756 rs764926974 GRCh37: 16:81960754-81960754
GRCh38: 16:81927149-81927149
50 PLCG2 NM_002661.5(PLCG2):c.1411A>C (p.Lys471Gln) SNV Uncertain significance 658788 rs1250133694 GRCh37: 16:81939056-81939056
GRCh38: 16:81905451-81905451

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

Pathways related to Familial Cold Autoinflammatory Syndrome 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.01 PLCG2 DGKE

GO Terms for Familial Cold Autoinflammatory Syndrome 3

Biological processes related to Familial Cold Autoinflammatory Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 8.96 PLCG2 DGKE
2 phosphatidylinositol biosynthetic process GO:0006661 8.62 PLCG2 DGKE

Sources for Familial Cold Autoinflammatory Syndrome 3

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
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