CHBL1
MCID: CHL140
MIFTS: 58

Chilblain Lupus 1 (CHBL1)

Categories: Bone diseases, Ear diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Chilblain Lupus 1

MalaCards integrated aliases for Chilblain Lupus 1:

Name: Chilblain Lupus 1 56 73 29 6 43 71
Chilblain Lupus 56 12 58 29 13 6 15 39
Chilblain Lupus Erythematosus 73 6
Chbl1 56 73
Lupus Erythematosus, Cutaneous 43
Hutchinson Lupus 73
Chle 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
environmental triggers - cold and wet exposure
allelic to aicardi-goutieres syndrome


HPO:

31
chilblain lupus 1:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060386
OMIM 56 610448
OMIM Phenotypic Series 56 PS610448
MESH via Orphanet 44 C535924
ICD10 via Orphanet 33 L93.2
UMLS via Orphanet 72 C0024145
Orphanet 58 ORPHA90280
UMLS 71 C0024145

Summaries for Chilblain Lupus 1

OMIM : 56 Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006). (610448)

MalaCards based summary : Chilblain Lupus 1, also known as chilblain lupus, is related to familial chilblain lupus and singleton-merten syndrome. An important gene associated with Chilblain Lupus 1 is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Hydroxychloroquine and Sunscreening Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and lymph node, and related phenotypes are hyperkeratosis and skin ulcer

Disease Ontology : 12 A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has material basis in autosomal dominant inheritance of mutation in the TREX1 gene.

UniProtKB/Swiss-Prot : 73 Chilblain lupus 1: A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure.

Wikipedia : 74 Chilblain lupus erythematosus is a chronic, unremitting form of lupus erythematosus with the fingertips,... more...

Related Diseases for Chilblain Lupus 1

Diseases in the Familial Chilblain Lupus family:

Chilblain Lupus 1 Chilblain Lupus 2

Diseases related to Chilblain Lupus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 familial chilblain lupus 34.6 TREX1 STING1 SAMHD1
2 singleton-merten syndrome 32.2 IFIH1 DDX58
3 aicardi-goutieres syndrome 1 30.8 TREX1 ATRIP-TREX1 ATRIP
4 lupus erythematosus 30.6 TREX1 SAMHD1 IRF5 DNASE1L3
5 type 1 interferonopathy 30.6 TREX1 SAMHD1
6 cutaneous lupus erythematosus 30.1 TREX1 IRF5 IFNA1
7 thrombocytopenia 27.8 SAMHD1 RNASEH2C RNASEH2B RNASEH2A IFNA1 IFIH1
8 systemic lupus erythematosus 27.7 TREX1 IRF5 IRF3 IFNA1 IFIH1 DNASE1L3
9 aicardi-goutieres syndrome 24.2 TREX1 TBK1 STING1 SAMHD1 RNASEH2C RNASEH2B
10 lupus erythematosus tumidus 11.4
11 chilblain lupus 2 11.3
12 perniosis 10.5
13 rheumatoid arthritis 10.3
14 exanthem 10.3
15 arthritis 10.3
16 erythrokeratoderma ''en cocardes'' 10.3
17 discoid lupus erythematosus 10.3
18 visual cortex disease 10.2 RNASEH2C RNASEH2B
19 visual pathway disease 10.2 RNASEH2C RNASEH2B
20 lymphoma 10.2
21 pancytopenia 10.2
22 purpura 10.2
23 lymphopenia 10.2
24 connective tissue disease 10.2
25 vasculitis 10.2
26 raynaud phenomenon 10.2
27 skin disease 10.2
28 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 10.1 RNASEH2C RNASEH2B
29 spondyloarthropathy 1 10.0
30 autoimmune disease 10.0
31 dowling-degos disease 1 10.0
32 vasculitis, lymphocytic, nodular 10.0
33 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
34 lymphoma, hodgkin, classic 10.0
35 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
36 anorexia nervosa 10.0
37 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
38 aicardi-goutieres syndrome 5 10.0
39 erythema multiforme 10.0
40 covid-19 10.0
41 rasopathy 10.0
42 bacterial infectious disease 10.0
43 inflammatory spondylopathy 10.0
44 neutropenia 10.0
45 panniculitis 10.0
46 keratosis 10.0
47 hidradenitis 10.0
48 polyclonal hypergammaglobulinemia 10.0
49 antiphospholipid syndrome 10.0
50 pneumonia 10.0

Graphical network of the top 20 diseases related to Chilblain Lupus 1:



Diseases related to Chilblain Lupus 1

Symptoms & Phenotypes for Chilblain Lupus 1

Human phenotypes related to Chilblain Lupus 1:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
2 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
3 cutis marmorata 58 31 frequent (33%) Frequent (79-30%) HP:0000965
4 raynaud phenomenon 58 31 frequent (33%) Frequent (79-30%) HP:0030880
5 rheumatoid factor positive 58 31 frequent (33%) Frequent (79-30%) HP:0002923
6 erythematous papule 58 31 frequent (33%) Frequent (79-30%) HP:0030350
7 malar rash 58 31 frequent (33%) Frequent (79-30%) HP:0025300
8 finger swelling 58 31 frequent (33%) Frequent (79-30%) HP:0025131
9 pruritis on hand 58 31 frequent (33%) Frequent (79-30%) HP:0030899
10 increased circulating antibody level 31 frequent (33%) HP:0010702
11 asthma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002099
12 antiphospholipid antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003613
13 systemic lupus erythematosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002725
14 antinuclear antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003493
15 chronic myelomonocytic leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012325
16 discoid lupus rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0007417
17 abnormality of the nail 31 occasional (7.5%) HP:0001597
18 skin rash 58 Frequent (79-30%)
19 arthralgia 31 HP:0002829
20 increased antibody level in blood 58 Frequent (79-30%)
21 inflammatory abnormality of the skin 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Vascular:
no raynaud phenomenon

Skin Nails Hair Skin:
painful bluish-red papules or nodules (fingers, toes, nose, cheek, ears)
cutaneous ulcers
healed areas are atrophic and hypopigmented
no cutaneous photosensitivity

Skin Nails Hair Nails:
subungual lesions (in some patients)

Skeletal:
arthralgias (knees and shoulders)

Skin Nails Hair Skin Histology:
deep inflammatory perivascular infiltrate with granular deposits of immunoglobulins and complement along basement membrane

Immunology:
antinuclear antibody present (in some patients)

Clinical features from OMIM:

610448

MGI Mouse Phenotypes related to Chilblain Lupus 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 ADAR DDX58 DNASE1L3 EXO1 IFIH1 IRF3
2 hematopoietic system MP:0005397 10 ADAR CGAS DDX58 EXO1 IFIH1 IRF3
3 homeostasis/metabolism MP:0005376 9.93 ADAR ATRIP CGAS DDX58 EXO1 IFIH1
4 immune system MP:0005387 9.77 ADAR CGAS DDX58 EXO1 IFIH1 IRF3
5 mortality/aging MP:0010768 9.44 ADAR ATRIP CGAS DDX58 EXO1 IFIH1

Drugs & Therapeutics for Chilblain Lupus 1

Drugs for Chilblain Lupus 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxychloroquine Approved Phase 3 118-42-3 3652
2 Sunscreening Agents Phase 3
3 Protective Agents Phase 3
4 Radiation-Protective Agents Phase 3
5 Anti-Infective Agents Phase 3
6 Antiparasitic Agents Phase 3
7 Antiprotozoal Agents Phase 3
8 Antimalarials Phase 3
9
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
10
Dimethyl fumarate Approved, Investigational Phase 2 624-49-7 5271565 637568
11
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
12
Etanercept Approved, Investigational Phase 2 185243-69-0
13
Norflurane Approved, Experimental Phase 2 811-97-2
14
Alitretinoin Approved, Investigational Phase 2 5300-03-8 449171 444795
15
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
16
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
17
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
18
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
19
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
20 Vitamin B Complex Phase 2
21 Lipid Regulating Agents Phase 2
22 Vitamin B3 Phase 2
23 Nicotinic Acids Phase 2
24 Vasodilator Agents Phase 2
25 Folate Phase 2
26 Vitamin B9 Phase 2
27 Hypolipidemic Agents Phase 2
28 Antimetabolites Phase 2
29 Gastrointestinal Agents Phase 2
30 Micronutrients Phase 2
31 Trace Elements Phase 2
32 Vitamins Phase 2
33 Nutrients Phase 2
34 Ergocalciferols Phase 2
35 Hormones Phase 2
36 Calciferol Phase 2
37 Calcium, Dietary Phase 2
38 Vitamin D2 Phase 2
39
Calcium Nutraceutical Phase 2 7440-70-2 271
40
Tyrosine Approved, Investigational, Nutraceutical Phase 1 60-18-4 6057
41 Antibodies Phase 1
42 Antibodies, Monoclonal Phase 1
43 Immunoglobulins Phase 1
44 Pharmaceutical Solutions Phase 1
45
Lenalidomide Approved 191732-72-6 216326
46 Rho(D) Immune Globulin Early Phase 1
47 Immunoglobulins, Intravenous Early Phase 1
48 gamma-Globulins Early Phase 1
49 Angiogenesis Inhibitors
50 Autoantibodies

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 Photoprotective Effects of the RV 2457C Sunscreen Milk in Photoinduced Cutaneous Lupus Erythematosus Completed NCT00470912 Phase 3 sunscreen RV 2547C
2 A Randomized, Double Blind, Baseline Controlled Study Using Placebo as Reference for Assessing the Efficacy and Safety of Hydroxychloroquine Sulfate in Patients With Systemic Lupus Erythematosus or Cutaneous Lupus Erythematosus in the Presence of Active Lupus Erythematosus Specific Skin Lesion Completed NCT01551069 Phase 3 hydroxychloroquine (Z0188);Placebo
3 A Phase Ib Study of Milatuzumab Administered Subcutaneously in Patients With Active Systemic Lupus Erythematosus (SLE) Unknown status NCT01845740 Phase 1, Phase 2 milatuzumab;Placebo
4 An Open-label Study for Assessing the Efficacy and Safety of Nicotinamide Treatment for Lupus-associated Skin Lesions in Patients With Cutaneous Lupus Erythematosus or Systemic Lupus Erythematosus Unknown status NCT03260166 Phase 2 nicotinamide
5 A Multi-center, Double-blind, Placebo-controlled, Proof-of-concept Study to Evaluate the Efficacy and Tolerability of KRP203 in Patients With Active Subacute Cutaneous Lupus Erythematosus Completed NCT01294774 Phase 2 KRP203 - 1.2mg;Placebo to KRP203 - 1.2 mg
6 A Phase 2, Randomized, Double-blind, Placebo-controlled Study to Assess the Safety and Efficacy of Filgotinib and GS-9876 in Female Subjects With Moderately-to-Severely Active Cutaneous Lupus Erythematosus (CLE) Completed NCT03134222 Phase 2 Lanraplenib;Filgotinib;Lanraplenib placebo;Filgotinib placebo
7 A Phase 2, Pilot, Multicenter, Sequential, Ascending Dose Study to Evaluate the Preliminary Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of CC-11050 in Subjects With Discoid Lupus Erythematosus and Subacute Cutaneous Lupus Erythematosus Completed NCT01300208 Phase 2 CC-11050
8 Efficacy and Safety of Fumaric Acid Esters (Fumaderm®) in the Treatment of Patients With Cutaneous Lupus Erythematosus: A Mono-Centre, Open-Label, Prospective Pilot Study Completed NCT01352988 Phase 2 Fumaric acid esters
9 The Efficacy of Topical Tacrolimus in the Treatment of Cutaneous Lupus Erythematosus - a Multi-Center-Trial Completed NCT00317681 Phase 2 Tacrolimus ointment
10 A 2-Part Phase 2 Randomized, Double-Blind, Placebo-Controlled Study Evaluating the Efficacy and Safety of BIIB059 in Subjects With Systemic Lupus Erythematosus and Active Skin Manifestations and in Subjects With Active Cutaneous Lupus Erythematosus With or Without Systemic Manifestations Completed NCT02847598 Phase 2 BIIB059;Placebo
11 A Single Arm, Phase II Open Label Trial to Investigate the Efficacy and Safety of Intra-dermal Injection of Etanercept for Remission Induction in Discoid Lupus Erythematosus Completed NCT02656082 Phase 2 Etanercept
12 Single Blind, Controlled, Single-Center Study of Laser Treatment in Cutaneous Lupus Erythematosus Completed NCT00523588 Phase 2
13 Efficacy and Safety of Oral Alitretinoin (Toctino®) in the Treatment of Patients With Cutaneous Lupus Erythematosus: A Multicentre, Open-Label, Prospective Pilot Study Terminated NCT01407679 Phase 2 Alitretinoin
14 Vitamin D Status, Disease Specific and Quality of Life Outcomes in Patients With Cutaneous Lupus Terminated NCT01498406 Phase 2
15 A Double-blind (Sponsor Unblinded) Study to Investigate Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Clinical Effect of Repeat Dosing of GSK2646264 in Cutaneous Lupus Erythematosus Patients Completed NCT02927457 Phase 1 GSK2646264 1%;Placebo
16 A Phase 1, Double-blind, Placebo-controlled, Multiple Intravenous, Ascending-Dose Study of CNTO 136 to Evaluate Safety and Pharmacokinetics in Subjects With Cutaneous Lupus Erythematosus and to Evaluate Safety and Pharmacokinetics in a Cohort of Subjects With Systemic Lupus Erythematosus Completed NCT01702740 Phase 1 1 mg/kg CNTO 136;4 mg/kg CNTO 136;10 mg/kg CNTO 136;Placebo
17 A Phase 1 Randomized, Placebo-Controlled, Blinded, Multiple Ascending Dose Study to Evaluate VIB7734 in Systemic Lupus Erythematosus, Cutaneous Lupus Erythematosus, Sjogren's Syndrome, Systemic Sclerosis, Polymyositis, and Dermatomyositis Active, not recruiting NCT03817424 Phase 1 VIB7734;Placebo
18 A Phase I, Open-Label, Dose Escalation Trial Exploring the Safety and Tolerability of Autologous Polyclonal Regulatory T Cell Therapy in Adults With Active Cutaneous Lupus (ALE08) Terminated NCT02428309 Phase 1
19 A Randomized, Subject And Investigator-Blinded (Sponsor-Open), Placebo-Controlled Study To Evaluate The Safety, Tolerability, And Preliminary Efficacy Of Multiple Ascending Doses Of PD- 0360324 In Subjects With Active Cutaneous Lupus Erythematosus (CLE) Terminated NCT01470313 Phase 1 PD-0360324;Placebo
20 A Randomized, Double-blind, Placebo-controlled, Multiple Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Clinical Effect of AMG 557 in Subjects With Subacute Cutaneous Lupus Erythematosus Terminated NCT01389895 Phase 1 AMG 557;AMG 557 Placebo
21 European Society of Cutaneous Lupus Erythematosus Unknown status NCT00420121
22 Longitudinal Study of Skin And Systemic Biomarkers In Subjects With Active Cutaneous Lupus Erythematosus And In Healthy Volunteers Completed NCT02034344
23 Cross-Sectional Study in Subjects With Active Cutaneous Lupus Erythematosus Completed NCT01923415
24 Investigation of the Efficacy of Different Sunscreens in Patients With Photosensitive Cutaneous Lupus Erythematosus Completed NCT01146444
25 Effectiveness of a Knowledge-based Intervention for Patients With Cutaneous Lupus Erythematosus Completed NCT01629784
26 A Pilot Study to Evaluate Using Tape Harvesting to Collect Ribonucleic Acid From the Upper Epidermis of Healthy Volunteers and Subjects With Discoid Lupus, Subjects With Subacute Cutaneous Lupus, and Subjects With Atopic Dermatitis Completed NCT02125695
27 Interdisciplinary Study Group of Lupus Erythematosus Completed NCT00420173
28 Proof-of-Concept Study of IVIg Efficacy in Patients With Cutaneous Lupus Erythematosus Completed NCT01841619 Early Phase 1 IVIg
29 Evaluation of Lenalidomide (REVLIMID®) in Cutaneous LE: A Prospective, Non Controlled, Open Label Pilot Study to Evaluate the Off-Label Use of the FDA-approved Drug Lenalidomide (REVLIMID®) in Patients With Cutaneous Lupus Erythematosus Completed NCT00633945 Lenalidomide
30 Duke Lupus Registry Recruiting NCT00512694
31 Prevalence and Clinical Severity of Cutaneous Lupus Erythematosus Recruiting NCT01510067
32 Low-dose UVA1 Radiation in Cutaneous Lupus Patients Recruiting NCT01776190
33 Telangiectatic Palmoplantar Keratoderma in Systemic and Subacute Lupus Erythematosus : to a Form of Lichen Planus-like Lupus Erythematosus ? Active, not recruiting NCT04356014
34 Role of Proteasomes in a Dermatological Autoimmune Disease: Bullous Pemphigoid Terminated NCT01559155
35 Evaluation of the Therapeutic Effect and Local Tolerability of Elidel® Cream 1% (Pimecrolimus) in Chronic Discoid Lupus Erythematosus (dLE) or Subacute Cutaneous Lupus Erythematosus (scLE) Withdrawn NCT00222183 Elidel (pimecrolimus)

Search NIH Clinical Center for Chilblain Lupus 1

Cochrane evidence based reviews: lupus erythematosus, cutaneous

Genetic Tests for Chilblain Lupus 1

Genetic tests related to Chilblain Lupus 1:

# Genetic test Affiliating Genes
1 Chilblain Lupus 1 29 TREX1
2 Chilblain Lupus 29

Anatomical Context for Chilblain Lupus 1

MalaCards organs/tissues related to Chilblain Lupus 1:

40
Skin, T Cells, Lymph Node, Lung

Publications for Chilblain Lupus 1

Articles related to Chilblain Lupus 1:

(show top 50) (show all 132)
# Title Authors PMID Year
1
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. 6 56 61
17440703 2007
2
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 61 6 56
17357087 2007
3
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. 56 6 61
16960810 2006
4
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 56 6
20799324 2010
5
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. 6 61
21808053 2011
6
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 56 61
17660818 2007
7
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 56
17846997 2007
8
The Gordon Wilson Lecture: The clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics. 56
16555603 2005
9
Childhood pernio and cryoproteins. 56
10792795 2000
10
The clinical observations of Jonathan Hutchinson. 56
14903422 1952
11
Harveian Lectures on Lupus. 56
20752149 1888
12
TREX1 variants in Sjogren's syndrome related lymphomagenesis. 61
31326279 2020
13
Adalimumab induced chilblain lupus in a patient with rheumatoid arthritis. 61
32515021 2020
14
Histological findings in chilblain-lupus like COVID lesions: in search of an answer to understand their etiology. 61
32531120 2020
15
Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi-Goutie'res syndrome. 61
32293470 2020
16
Designation of Autoinflammatory Skin Manifestations With Specific Genetic Backgrounds. 61
32256502 2020
17
Drug-induced acute eosinophilic pneumonia due to hydroxychloroquine in a chilblain lupus patient. 61
31050015 2019
18
Chilblain lupus during treatment with golimumab for rheumatoid arthritis. 61
30951207 2019
19
Hydroxychloroquine-Associated Hyperpigmentation in Chilblain Lupus Erythematosus. 61
31116124 2019
20
Targeted Treatment of TREX1 Chilblain Lupus and Other Interferonopathies-Taming T REX. 61
30673073 2019
21
Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency. 61
30282666 2019
22
Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation. 61
30673078 2019
23
TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia. 61
30685859 2019
24
Novel TMEM173 Mutation and the Role of Disease Modifying Alleles. 61
31866997 2019
25
Measuring TREX1 and TREX2 exonuclease activities. 61
31455522 2019
26
Chilblain Lupus with Nail Involvement: A Case Report and a Brief Overview. 61
30643780 2018
27
[Familial chilblain lupus: Four cases spanning three generations]. 61
30217686 2018
28
Chilblain lupus erythematosus presenting with bilateral hemorrhagic bullae of distal halluces. 61
30063789 2018
29
Aicardi-Goutières syndrome: cold-induced acral blemish is not always cryoglobulinaemic vasculitis or chilblain lupus. 61
29341198 2018
30
Comparative Analysis of Chilblain Lupus Erythematosus and Idiopathic Perniosis: Histopathologic Features and Immunohistochemistry for CD123 and CD30. 61
28719438 2018
31
A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis. 61
28919362 2017
32
Chilblain lupus and steroid-responsive pancytopenia precede monosomy 7-linked AML as manifestation of rasopathy. 61
28802089 2017
33
A case of chilblain lupus erythematosus with lupus erythematosus/lichen planus overlap syndrome. 61
28322475 2017
34
JAK inhibitor ruxolitinib inhibits the expression of cytokines characteristic of cutaneous lupus erythematosus. 61
27892610 2017
35
Familial Chilblain Lupus - What Can We Learn from Type I Interferonopathies? 61
28844088 2017
36
Chilblain lupus erythematosus treated successfully with mycophenolate mofetil. 61
28345755 2017
37
Efficacy and comparison of antimalarials in cutaneous lupus erythematosus subtypes: a systematic review and meta-analysis. 61
28112801 2017
38
[Familial chilblain lupus : Type 1 interferonopathy with model character]. 61
28389709 2017
39
Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion. 61
28334850 2017
40
Severe recalcitrant cutaneous manifestations in systemic lupus erythematosus successfully treated with fumaric acid esters. 61
27105770 2017
41
Familial chilblain lupus due to a gain-of-function mutation in STING. 61
27566796 2017
42
Methods of Assessing STING Activation and Trafficking. 61
28808969 2017
43
Cold-Associated Perniosis of the Thighs ("Equestrian-Type" Chilblain): A Reappraisal Based on a Clinicopathologic and Immunohistochemical Study of 6 Cases. 61
26885604 2016
44
JAK1/2 Inhibitor Ruxolitinib Controls a Case of Chilblain Lupus Erythematosus. 61
26916391 2016
45
Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy. 61
26584874 2016
46
Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes. 61
26284909 2015
47
[Type I interferonopathies]. 61
26363997 2015
48
Cutting Edge: cGAS Is Required for Lethal Autoimmune Disease in the Trex1-Deficient Mouse Model of Aicardi-Goutières Syndrome. 61
26223655 2015
49
Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis. 61
25992765 2015
50
Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease. 61
25848017 2015

Variations for Chilblain Lupus 1

ClinVar genetic disease variations for Chilblain Lupus 1:

6 (show top 50) (show all 58) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TREX1 NM_033629.6(TREX1):c.703dup (p.Val235fs)duplication Pathogenic 449514 rs1553820434 3:48508753-48508754 3:48467354-48467355
2 TREX1 NM_033629.6(TREX1):c.228_235CTGCAGCC[1] (p.Pro79fs)short repeat Pathogenic 850507 3:48508281-48508288 3:48466882-48466889
3 TREX1 NM_033629.6(TREX1):c.228_235CTGCAGCC[3] (p.Ser82fs)short repeat Pathogenic 839889 3:48508280-48508281 3:48466881-48466882
4 TREX1 NM_033629.6(TREX1):c.375dup (p.Gly126fs)duplication Pathogenic 4183 3:48508428-48508429 3:48467029-48467030
5 TREX1 NM_033629.6(TREX1):c.52G>A (p.Asp18Asn)SNV Pathogenic 4185 rs121908117 3:48508106-48508106 3:48466707-48466707
6 TREX1 NM_033629.6(TREX1):c.366_368dup (p.Ala123dup)duplication Pathogenic 126386 rs77371662 3:48508419-48508420 3:48467020-48467021
7 TREX1 NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)deletion Pathogenic 126393 rs79318303 3:48508913-48508930 3:48467514-48467531
8 TREX1 NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)SNV Likely pathogenic 209198 rs760838030 3:48508394-48508394 3:48466995-48466995
9 TREX1 NM_033629.6(TREX1):c.416del (p.Ala139fs)deletion Likely pathogenic 843202 3:48508470-48508470 3:48467071-48467071
10 TREX1 NM_033629.6(TREX1):c.796G>T (p.Glu266Ter)SNV Likely pathogenic 835524 3:48508850-48508850 3:48467451-48467451
11 TREX1 NM_016381.5(TREX1):c.764_766dupATG (p.Asp255dup)duplication Likely pathogenic 4181 rs74556809 3:48508650-48508651 3:48467251-48467252
12 TREX1 NM_033629.6(TREX1):c.829A>T (p.Lys277Ter)SNV Likely pathogenic 535846 rs1553820518 3:48508883-48508883 3:48467484-48467484
13 TREX1 NM_033629.6(TREX1):c.219G>A (p.Pro73=)SNV Conflicting interpretations of pathogenicity 448703 rs778992418 3:48508273-48508273 3:48466874-48466874
14 TREX1 NM_033629.6(TREX1):c.720G>C (p.Arg240Ser)SNV Conflicting interpretations of pathogenicity 586841 rs72556555 3:48508774-48508774 3:48467375-48467375
15 TREX1 NM_033629.6(TREX1):c.341G>A (p.Arg114His)SNV Conflicting interpretations of pathogenicity 4179 rs72556554 3:48508395-48508395 3:48466996-48466996
16 TREX1 NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)SNV Conflicting interpretations of pathogenicity 522920 rs755919767 3:48508272-48508272 3:48466873-48466873
17 TREX1 NM_033629.6(TREX1):c.651G>A (p.Arg217=)SNV Conflicting interpretations of pathogenicity 739289 3:48508705-48508705 3:48467306-48467306
18 TREX1 NM_033629.6(TREX1):c.294dup (p.Cys99fs)duplication Conflicting interpretations of pathogenicity 225499 rs760594164 3:48508346-48508347 3:48466947-48466948
19 TREX1 NM_033629.6(TREX1):c.9G>A (p.Ser3=)SNV Conflicting interpretations of pathogenicity 345772 rs762687506 3:48508063-48508063 3:48466664-48466664
20 TREX1 NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)SNV Conflicting interpretations of pathogenicity 96242 rs55999987 3:48508851-48508851 3:48467452-48467452
21 TREX1 NM_033629.6(TREX1):c.183G>A (p.Pro61=)SNV Conflicting interpretations of pathogenicity 345773 rs55852466 3:48508237-48508237 3:48466838-48466838
22 TREX1 NM_033629.6(TREX1):c.312G>C (p.Leu104=)SNV Conflicting interpretations of pathogenicity 345775 rs56162833 3:48508366-48508366 3:48466967-48466967
23 TREX1 NM_033629.6(TREX1):c.418A>G (p.Met140Val)SNV Uncertain significance 345777 rs761526437 3:48508472-48508472 3:48467073-48467073
24 TREX1 NM_033629.6(TREX1):c.923C>G (p.Ser308Cys)SNV Uncertain significance 374471 rs769885715 3:48508977-48508977 3:48467578-48467578
25 TREX1 NM_033629.6(TREX1):c.907A>C (p.Thr303Pro)SNV Uncertain significance 126394 rs76224909 3:48508961-48508961 3:48467562-48467562
26 TREX1 NM_033629.6(TREX1):c.24G>A (p.Pro8=)SNV Uncertain significance 844413 3:48508078-48508078 3:48466679-48466679
27 TREX1 NM_033629.6(TREX1):c.127G>T (p.Ala43Ser)SNV Uncertain significance 861797 3:48508181-48508181 3:48466782-48466782
28 TREX1 NM_033629.6(TREX1):c.142_144del (p.Pro48del)deletion Uncertain significance 841338 3:48508192-48508194 3:48466793-48466795
29 TREX1 NM_033629.6(TREX1):c.184C>T (p.Arg62Cys)SNV Uncertain significance 862993 3:48508238-48508238 3:48466839-48466839
30 TREX1 NM_033629.6(TREX1):c.191T>C (p.Val64Ala)SNV Uncertain significance 845321 3:48508245-48508245 3:48466846-48466846
31 TREX1 NM_033629.6(TREX1):c.587C>T (p.Thr196Met)SNV Uncertain significance 535848 rs754998766 3:48508641-48508641 3:48467242-48467242
32 TREX1 NM_033629.6(TREX1):c.817C>G (p.Leu273Val)SNV Uncertain significance 851180 3:48508871-48508871 3:48467472-48467472
33 TREX1 NM_033629.6(TREX1):c.935C>G (p.Pro312Arg)SNV Uncertain significance 861671 3:48508989-48508989 3:48467590-48467590
34 TREX1 NM_033629.6(TREX1):c.427C>G (p.Leu143Val)SNV Uncertain significance 835233 3:48508481-48508481 3:48467082-48467082
35 TREX1 NM_033629.6(TREX1):c.757C>G (p.His253Asp)SNV Uncertain significance 862908 3:48508811-48508811 3:48467412-48467412
36 TREX1 NM_033629.6(TREX1):c.247G>A (p.Glu83Lys)SNV Uncertain significance 847510 3:48508301-48508301 3:48466902-48466902
37 TREX1 NM_033629.6(TREX1):c.739G>C (p.Ala247Pro)SNV Uncertain significance 586842 rs112741962 3:48508793-48508793 3:48467394-48467394
38 TREX1 NM_033629.6(TREX1):c.250A>G (p.Ile84Val)SNV Uncertain significance 647120 3:48508304-48508304 3:48466905-48466905
39 TREX1 NM_033629.6(TREX1):c.251T>C (p.Ile84Thr)SNV Uncertain significance 651268 3:48508305-48508305 3:48466906-48466906
40 TREX1 NM_033629.6(TREX1):c.640G>A (p.Ala214Thr)SNV Uncertain significance 652641 3:48508694-48508694 3:48467295-48467295
41 TREX1 NM_033629.6(TREX1):c.734C>G (p.Pro245Arg)SNV Uncertain significance 662525 3:48508788-48508788 3:48467389-48467389
42 TREX1 NM_033629.6(TREX1):c.784C>T (p.Pro262Ser)SNV Uncertain significance 665857 3:48508838-48508838 3:48467439-48467439
43 TREX1 NM_033629.6(TREX1):c.899C>T (p.Ala300Val)SNV Uncertain significance 467832 rs1553820567 3:48508953-48508953 3:48467554-48467554
44 TREX1 NM_033629.6(TREX1):c.382C>T (p.Arg128Cys)SNV Uncertain significance 535847 rs199614534 3:48508436-48508436 3:48467037-48467037
45 TREX1 NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)SNV Uncertain significance 570429 rs146524913 3:48508677-48508677 3:48467278-48467278
46 TREX1 NM_033629.6(TREX1):c.869C>T (p.Pro290Leu)SNV Uncertain significance 576299 rs148833270 3:48508923-48508923 3:48467524-48467524
47 TREX1 NM_033629.6(TREX1):c.338G>A (p.Arg113Gln)SNV Uncertain significance 571633 rs201496629 3:48508392-48508392 3:48466993-48466993
48 TREX1 NM_033629.6(TREX1):c.690G>C (p.Arg230Ser)SNV Uncertain significance 575190 rs55691060 3:48508744-48508744 3:48467345-48467345
49 TREX1 NM_033629.6(TREX1):c.679G>A (p.Gly227Ser)SNV Uncertain significance 586840 rs113107733 3:48508733-48508733 3:48467334-48467334
50 TREX1 NM_033629.6(TREX1):c.339G>A (p.Arg113=)SNV Likely benign 766933 3:48508393-48508393 3:48466994-48466994

UniProtKB/Swiss-Prot genetic disease variations for Chilblain Lupus 1:

73
# Symbol AA change Variation ID SNP ID
1 TREX1 p.Asp18Asn VAR_037948 rs121908117

Expression for Chilblain Lupus 1

Search GEO for disease gene expression data for Chilblain Lupus 1.

Pathways for Chilblain Lupus 1

Pathways related to Chilblain Lupus 1 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 TREX1 TBK1 STING1 SAMHD1 IRF5 IRF3
2
Show member pathways
13.12 SAMHD1 IRF5 IRF3 IFNA1 DDX58 ADAR
3
Show member pathways
12.86 TBK1 IRF5 IRF3 IFNA1 IFIH1 DDX58
4
Show member pathways
12.71 TBK1 STING1 SAMHD1 IRF3 IFNA1 CGAS
5
Show member pathways
12.59 TBK1 IRF3 IFNA1 IFIH1 DDX58 ADAR
6 12.31 TBK1 IRF5 IRF3 IFNA1 IFIH1 DDX58
7
Show member pathways
12.23 TBK1 STING1 IRF3 IFNA1 IFIH1 DDX58
8 12.21 TBK1 STING1 IRF3 CGAS
9 12.19 TBK1 STING1 IRF3 IFNA1 IFIH1 DDX58
10
Show member pathways
12.12 SAMHD1 IRF5 IRF3 IFNA1 DDX58 ADAR
11
Show member pathways
12.06 SAMHD1 IRF5 IRF3 IFNA1 ADAR
12 12.04 TBK1 STING1 IRF3 IFNA1
13
Show member pathways
11.78 TREX1 TBK1 STING1 IRF3 IFNA1 IFIH1
14
Show member pathways
10.91 IRF3 DDX58 ADAR

GO Terms for Chilblain Lupus 1

Cellular components related to Chilblain Lupus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.77 TREX1 SAMHD1 RNASEH2C RNASEH2B RNASEH2A IRF5
2 ribonuclease H2 complex GO:0032299 8.8 RNASEH2C RNASEH2B RNASEH2A

Biological processes related to Chilblain Lupus 1 according to GeneCards Suite gene sharing:

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10.13 TBK1 STING1 SAMHD1 IRF5 IRF3 IFIH1
2 viral process GO:0016032 10.07 TBK1 STING1 SAMHD1 IRF3 IFIH1 DDX58
3 DNA repair GO:0006281 10.03 TREX1 SAMHD1 EXO1 CGAS ATRIP
4 cellular response to DNA damage stimulus GO:0006974 10.03 TREX1 SAMHD1 IRF3 EXO1 CGAS ATRIP
5 innate immune response GO:0045087 10.02 TREX1 TBK1 STING1 SAMHD1 IRF5 IRF3
6 regulation of gene expression GO:0010468 9.98 TREX1 TBK1 STING1 IRF3
7 DNA replication GO:0006260 9.93 TREX1 SAMHD1 RNASEH2A EXO1 ATRIP
8 response to virus GO:0009615 9.89 TBK1 IFIH1 DDX58 ADAR
9 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.89 TREX1 RNASEH2A EXO1 DNASE1L3 ATRIP
10 type I interferon signaling pathway GO:0060337 9.85 TREX1 SAMHD1 IRF5 IRF3 IFNA1 ADAR
11 regulation of inflammatory response GO:0050727 9.84 TREX1 STING1 IRF3
12 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.83 RNASEH2B RNASEH2A EXO1
13 positive regulation of type I interferon production GO:0032481 9.81 TBK1 STING1 IRF3 CGAS
14 positive regulation of interferon-beta production GO:0032728 9.8 TBK1 IRF5 IRF3 IFIH1 DDX58
15 response to exogenous dsRNA GO:0043330 9.79 IRF3 IFNA1 DDX58
16 mismatch repair GO:0006298 9.79 TREX1 RNASEH2A EXO1
17 positive regulation of defense response to virus by host GO:0002230 9.78 STING1 DDX58 CGAS
18 negative regulation of type I interferon production GO:0032480 9.78 TBK1 IRF3 IFIH1 DDX58
19 RNA catabolic process GO:0006401 9.77 RNASEH2C RNASEH2B RNASEH2A
20 activation of innate immune response GO:0002218 9.74 TBK1 STING1 CGAS
21 negative regulation of type I interferon-mediated signaling pathway GO:0060339 9.72 TREX1 SAMHD1 ADAR
22 positive regulation of tumor necrosis factor secretion GO:1904469 9.69 IFIH1 DDX58
23 regulation of innate immune response GO:0045088 9.68 TREX1 SAMHD1
24 cellular response to interferon-beta GO:0035458 9.68 TREX1 STING1
25 determination of adult lifespan GO:0008340 9.68 TREX1 CGAS
26 somatic hypermutation of immunoglobulin genes GO:0016446 9.67 SAMHD1 EXO1
27 positive regulation of type I interferon-mediated signaling pathway GO:0060340 9.67 TBK1 IRF3
28 regulation of T cell activation GO:0050863 9.66 TREX1 CGAS
29 positive regulation of interferon-alpha secretion GO:1902741 9.66 IFIH1 DDX58
30 positive regulation of response to cytokine stimulus GO:0060760 9.65 IFIH1 DDX58
31 DNA catabolic process GO:0006308 9.65 TREX1 DNASE1L3
32 cellular response to exogenous dsRNA GO:0071360 9.65 STING1 IRF3 IFIH1 DDX58 CGAS
33 detection of virus GO:0009597 9.64 IFIH1 DDX58
34 positive regulation of interferon-beta secretion GO:0035549 9.64 IFIH1 DDX58
35 regulation of immunoglobulin production GO:0002637 9.63 TREX1 CGAS
36 regulation of cellular metabolic process GO:0031323 9.63 TREX1 TBK1 STING1
37 MDA-5 signaling pathway GO:0039530 9.62 IRF3 IFIH1
38 cytoplasmic pattern recognition receptor signaling pathway in response to virus GO:0039528 9.58 IFIH1 DDX58
39 regulation of type III interferon production GO:0034344 9.58 IFIH1 DDX58
40 regulation of type I interferon production GO:0032479 9.55 TREX1 TBK1 STING1 IRF3 CGAS
41 defense response to virus GO:0051607 9.36 TREX1 TBK1 STING1 SAMHD1 IRF5 IRF3
42 positive regulation of interferon-alpha production GO:0032727 9.35 TBK1 IRF5 IRF3 IFIH1 DDX58

Molecular functions related to Chilblain Lupus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.03 TREX1 IRF5 IRF3 IFIH1 EXO1 DNASE1L3
2 hydrolase activity GO:0016787 9.86 TREX1 SAMHD1 RNASEH2A IFIH1 EXO1 DNASE1L3
3 double-stranded DNA binding GO:0003690 9.63 TREX1 DDX58 CGAS
4 endonuclease activity GO:0004519 9.58 RNASEH2A EXO1 DNASE1L3
5 identical protein binding GO:0042802 9.56 TREX1 TBK1 STING1 SAMHD1 IRF5 IRF3
6 double-stranded RNA binding GO:0003725 9.54 IFIH1 DDX58 ADAR
7 exonuclease activity GO:0004527 9.5 TREX1 EXO1 ATRIP
8 nuclease activity GO:0004518 9.46 TREX1 RNASEH2A EXO1 DNASE1L3
9 RNA-DNA hybrid ribonuclease activity GO:0004523 8.8 RNASEH2B RNASEH2A EXO1

Sources for Chilblain Lupus 1

3 CDC
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11 DGIdb
17 EFO
18 ExPASy
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