CHBL1
MCID: CHL140
MIFTS: 59

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 57 72 29 6 44 70
Chilblain Lupus 57 12 58 13 15 39
Chilblain Lupus Erythematosus 72 6
Chbl1 57 72
Lupus Erythematosus, Cutaneous 44
Chilblain Lupus, Type 1 39
Hutchinson Lupus 72
Chle 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 610448
OMIM Phenotypic Series 57 PS610448
MESH via Orphanet 45 C535924
ICD10 via Orphanet 33 L93.2
UMLS via Orphanet 71 C0024145
Orphanet 58 ORPHA90280
UMLS 70 C0024145

Summaries for Chilblain Lupus 1

OMIM® : 57 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) (Updated 20-May-2021)

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 Viral mRNA Translation. The drugs Hydroxychloroquine and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, eye 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 : 72 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 : 73 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 109)
# Related Disease Score Top Affiliating Genes
1 familial chilblain lupus 32.9 TREX1 STING1 SAMHD1 ATRIP-TREX1 ATRIP
2 singleton-merten syndrome 32.1 IFIH1 DDX58
3 lupus erythematosus 31.1 TREX1 IRF5 IFIH1 DNASE1L3
4 aicardi-goutieres syndrome 1 30.7 TREX1 SAMHD1 RNASEH2B RNASEH2A ATRIP-TREX1 ATRIP
5 type 1 interferonopathy 30.6 TREX1 SAMHD1
6 covid-19 30.1 IFNB1 IFNA1 IFIH1
7 rasopathy 29.9 IRF3 IFNB1 IFNA1 IFIH1 DDX58
8 systemic lupus erythematosus 29.2 TREX1 IRF5 IRF3 IFNB1 IFNA1 IFIH1
9 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations 29.0 TREX1 TBK1 STING1 SAMHD1 RNASEH2C RNASEH2B
10 aicardi-goutieres syndrome 28.4 TREX1 TBK1 STING1 SAMHD1 RNASEH2C RNASEH2B
11 lupus erythematosus tumidus 11.2
12 chilblain lupus 2 11.0
13 cutaneous lupus erythematosus 10.5
14 perniosis 10.4
15 immunodeficiency 38 with basal ganglia calcification 10.3 RNASEH2C RNASEH2B RNASEH2A
16 visual cortex disease 10.3 RNASEH2C RNASEH2B RNASEH2A
17 visual pathway disease 10.3 RNASEH2C RNASEH2B RNASEH2A
18 oral erosive lichen 10.3 IFNB1 IFNA1
19 phlebotomus fever 10.3 IRF3 IFNB1
20 discoid lupus erythematosus 10.3
21 adult dermatomyositis 10.3 IFNA1 IFIH1
22 chikungunya 10.2 SAMHD1 DDX58 CGAS
23 west nile fever 10.2 IRF3 IFNA1
24 basal ganglia calcification 10.2 SAMHD1 RNASEH2C RNASEH2B RNASEH2A
25 prolidase deficiency 10.2 RNASEH2C RNASEH2B RNASEH2A DNASE1L3
26 dyschromatosis symmetrica hereditaria 10.2 RNASEH2C RNASEH2B RNASEH2A ADAR
27 noonan syndrome 4 10.2 IRF3 IFNA1 DDX58
28 hantavirus pulmonary syndrome 10.2 IRF3 IFNB1 DDX58
29 lymphocytic choriomeningitis 10.2 IRF3 DDX58 ADAR
30 rheumatoid arthritis 10.2
31 exanthem 10.2
32 erythrokeratoderma ''en cocardes'' 10.2
33 parainfluenza virus type 3 10.2 IFNB1 IFNA1 DDX58
34 poliomyelitis 10.2 IFNA1 IFIH1 DDX58
35 argentine hemorrhagic fever 10.2 IFNA1 DDX58
36 rabies 10.2 IRF3 IFNA1 DDX58
37 croup 10.2 IFIH1 DDX58
38 middle east respiratory syndrome 10.1 TBK1 IRF3 IFNB1 IFIH1
39 lassa fever 10.1 IRF3 IFNA1 IFIH1 DDX58
40 crimean-congo hemorrhagic fever 10.1 IFNB1 IFNA1 DDX58
41 encephalitis 10.1 TREX1 IRF3 IFNB1 DDX58
42 tick-borne encephalitis 10.1 IFNB1 IFNA1 DDX58
43 monkeypox 10.1 IRF3 IFNA1
44 west nile virus 10.1 IRF3 IFNA1 IFIH1 DDX58
45 ebola hemorrhagic fever 10.1 IRF3 IFNB1 IFNA1 DDX58
46 swine influenza 10.1 IRF3 IFNB1 IFNA1 DDX58
47 pancytopenia 10.1
48 purpura 10.1
49 lymphopenia 10.1
50 connective tissue disease 10.1

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 arthralgia 31 HP:0002829
19 skin rash 58 Frequent (79-30%)
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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Chilblain Lupus 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.07 ADAR CGAS DDX58 EXO1 IFI16 IFIH1
2 cellular MP:0005384 10.06 ADAR ATRIP DDX58 DNASE1L3 EXO1 IFIH1
3 homeostasis/metabolism MP:0005376 10 ADAR ATRIP CGAS DDX58 EXO1 IFI16
4 immune system MP:0005387 9.83 ADAR CGAS DDX58 EXO1 IFI16 IFIH1
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 top 50) (show all 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxychloroquine Approved Phase 3 118-42-3 3652
2 Dermatologic Agents Phase 3
3 Antirheumatic Agents Phase 3
4 Antiparasitic Agents Phase 3
5 Antimalarials Phase 3
6 Anti-Infective Agents Phase 3
7 Antiprotozoal Agents Phase 3
8 Sunscreening Agents Phase 3
9 Protective Agents Phase 3
10 Radiation-Protective Agents Phase 3
11
Dimethyl fumarate Approved, Investigational Phase 2 624-49-7 637568 5271565
12
Etanercept Approved, Investigational Phase 2 185243-69-0
13
Norflurane Approved, Experimental Phase 2 811-97-2
14
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
15
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
16
Alitretinoin Approved, Investigational Phase 2 5300-03-8 444795 449171
17
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
18
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
19
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
20
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
21
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
22 Immunosuppressive Agents Phase 2
23 Immunologic Factors Phase 2
24 Immunoglobulins Phase 1, Phase 2
25 Antibodies Phase 1, Phase 2
26 Antibodies, Monoclonal Phase 1, Phase 2
27 Anti-Inflammatory Agents Phase 2
28 Analgesics, Non-Narcotic Phase 2
29 Calcineurin Inhibitors Phase 2
30 Anti-Inflammatory Agents, Non-Steroidal Phase 2
31 Analgesics Phase 2
32 Gastrointestinal Agents Phase 2
33 Antimetabolites Phase 2
34 Vasodilator Agents Phase 2
35 Vitamin B9 Phase 2
36 Hypolipidemic Agents Phase 2
37 Folate Phase 2
38 Vitamin B3 Phase 2
39 Vitamin B Complex Phase 2
40 Lipid Regulating Agents Phase 2
41 Nicotinic Acids Phase 2
42 Micronutrients Phase 2
43 Trace Elements Phase 2
44 Nutrients Phase 2
45 Vitamins Phase 2
46 Vitamin D2 Phase 2
47 Hormones Phase 2
48 Ergocalciferols Phase 2
49 Calciferol Phase 2
50 Calcium, Dietary Phase 2

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 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
2 Photoprotective Effects of the RV 2457C Sunscreen Milk in Photoinduced Cutaneous Lupus Erythematosus Completed NCT00470912 Phase 3 sunscreen RV 2547C
3 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
4 A Phase Ib Study of Milatuzumab Administered Subcutaneously in Patients With Active Systemic Lupus Erythematosus (SLE) Completed NCT01845740 Phase 1, Phase 2 milatuzumab;Placebo
5 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
6 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
7 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
8 Single Blind, Controlled, Single-Center Study of Laser Treatment in Cutaneous Lupus Erythematosus Completed NCT00523588 Phase 2
9 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
10 The Efficacy of Topical Tacrolimus in the Treatment of Cutaneous Lupus Erythematosus - a Multi-Center-Trial Completed NCT00317681 Phase 2 Tacrolimus ointment
11 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
12 Randomized, Double-blind, Placebo Controlled, Proof of Concept Study Assessing the Efficacy and Safety of the RIPK1-inhibitor SAR443122 in Patients With Moderate to Severe Subacute or Discoid/Chronic Cutaneous Lupus Erythematosus Recruiting NCT04781816 Phase 2 SAR443122;Placebo
13 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 Active, not recruiting NCT03260166 Phase 2 nicotinamide
14 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
15 Vitamin D Status, Disease Specific and Quality of Life Outcomes in Patients With Cutaneous Lupus Terminated NCT01498406 Phase 2
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 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
18 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 Completed NCT03817424 Phase 1 VIB7734;Placebo
19 A Phase 1b Randomized, Double-blind, Placebo-controlled Study to Assess the Safety and Pharmacokinetics of BMS-986256 in Participants With Active Cutaneous Lupus Erythematosus Recruiting NCT04493541 Phase 1 BMS-986256
20 A Phase Ib, Randomized, Double-blind, Placebo Controlled Study to Evaluate the Safety and Pharmacokinetics of Multiple Ascending Doses of M5049 Administered Orally in SLE and CLE Participants Treated With Standard of Care Recruiting NCT04647708 Phase 1 M5049;M5049;M5049;Placebo
21 A Randomized, Blinded, Placebo-Controlled, Phase 1b Study of GS-5718 in Subjects With Cutaneous Lupus Erythematosus (CLE) Not yet recruiting NCT04809623 Phase 1 GS-5718;Placebo
22 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
23 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
24 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
25 European Society of Cutaneous Lupus Erythematosus Unknown status NCT00420121
26 Cross-Sectional Study in Subjects With Active Cutaneous Lupus Erythematosus Completed NCT01923415
27 Longitudinal Study of Skin And Systemic Biomarkers In Subjects With Active Cutaneous Lupus Erythematosus And In Healthy Volunteers Completed NCT02034344
28 Investigation of the Efficacy of Different Sunscreens in Patients With Photosensitive Cutaneous Lupus Erythematosus Completed NCT01146444
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 Effectiveness of a Knowledge-based Intervention for Patients With Cutaneous Lupus Erythematosus Completed NCT01629784
31 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
32 Interdisciplinary Study Group of Lupus Erythematosus Completed NCT00420173
33 Proof-of-Concept Study of IVIg Efficacy in Patients With Cutaneous Lupus Erythematosus Completed NCT01841619 Early Phase 1 IVIg
34 Prevalence and Clinical Severity of Cutaneous Lupus Erythematosus Recruiting NCT01510067
35 Low-dose UVA1 Radiation in Cutaneous Lupus Patients Recruiting NCT01776190
36 Within-subject, Investigator Initiated, Single-blind, Single-centre, Randomized Clinical Trial Investigating the Efficacy of Fractional Er:YAG Laser in Lupus Erythematosus Scars Not yet recruiting NCT04707924
37 Role of Proteasomes in a Dermatological Autoimmune Disease: Bullous Pemphigoid Terminated NCT01559155
38 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

Anatomical Context for Chilblain Lupus 1

MalaCards organs/tissues related to Chilblain Lupus 1:

40
Skin, Eye, Lymph Node, Cortex, Brain, Kidney

Publications for Chilblain Lupus 1

Articles related to Chilblain Lupus 1:

(show top 50) (show all 160)
# Title Authors PMID Year
1
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. 61 6 57
17440703 2007
2
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 57 6 61
17357087 2007
3
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. 6 57 61
16960810 2006
4
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 57 6
20799324 2010
5
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 57 6
17846997 2007
6
Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease. 61 6
25848017 2015
7
A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. 61 6
23989343 2013
8
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. 6 61
22829693 2013
9
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. 6 61
21808053 2011
10
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. 61 6
18805785 2008
11
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 61 57
17660818 2007
12
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome. 6
28089741 2017
13
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis. 6
28750028 2017
14
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
15
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. 6
27604306 2016
16
Clinical application of whole-exome sequencing across clinical indications. 6
26633542 2016
17
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. 6
27391121 2016
18
A 44-year-old man with eye, kidney, and brain dysfunction. 6
26691497 2016
19
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. 6
26182405 2015
20
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]. 6
25582466 2014
21
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. 6
24300241 2014
22
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. 6
24183309 2013
23
Heterozygous TREX1 mutations in early-onset cerebrovascular disease. 6
23881107 2013
24
A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain. 6
23602593 2013
25
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. 6
21937424 2011
26
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. 6
21270825 2011
27
The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1. 6
20871604 2010
28
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 6
20131292 2010
29
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 6
17660820 2007
30
The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering. 6
17293595 2007
31
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 6
16845398 2006
32
The Gordon Wilson Lecture: The clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics. 57
16555603 2005
33
Childhood pernio and cryoproteins. 57
10792795 2000
34
The clinical observations of Jonathan Hutchinson. 57
14903422 1952
35
Harveian Lectures on Lupus. 57
20752149 1888
36
Chilblain lupus erythematosus associated with systemic and discoid lupus erythematosus. 61
32856084 2021
37
Histopathologic Features of Chilblainlike Lesions Developing in the Setting of the Coronavirus Disease 2019 (COVID-19) Pandemic. 61
33501498 2021
38
The Overlap between Genetic Susceptibility to COVID-19 and Skin Diseases. 61
33494631 2021
39
Histopathological features of Chilblain-like lesions developing in the setting of the COVID-19 pandemic. 61
33036032 2020
40
New insights in COVID-19-associated chilblains: A comparative study with chilblain lupus erythematosus. 61
32622895 2020
41
Histological findings in chilblain lupus-like COVID lesions: in search of an answer to understand their aetiology. 61
32531120 2020
42
[Acro-ischemic injuries in children-adolescents during CoViD-19 pandemic: from lifestyle changes due to lockdown to interferone.] 61
32914775 2020
43
Different Clinical Manifestations of Three Prime Repair Exonuclease 1 Mutation: A Case Series. 61
33623276 2020
44
Hydroxychloroquine-Associated Hyperpigmentation in Chilblain Lupus Erythematosus. 61
31116124 2020
45
TREX1 variants in Sjogren's syndrome related lymphomagenesis. 61
31326279 2020
46
Adalimumab induced chilblain lupus in a patient with rheumatoid arthritis. 61
32515021 2020
47
Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi-Goutie'res syndrome. 61
32293470 2020
48
Designation of Autoinflammatory Skin Manifestations With Specific Genetic Backgrounds. 61
32256502 2020
49
Drug-induced acute eosinophilic pneumonia due to hydroxychloroquine in a chilblain lupus patient. 61
31050015 2019
50
Chilblain lupus during treatment with golimumab for rheumatoid arthritis. 61
30951207 2019

Variations for Chilblain Lupus 1

ClinVar genetic disease variations for Chilblain Lupus 1:

6 (show top 50) (show all 97)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.375dup (p.Gly126fs) Duplication Pathogenic 4183 rs1575292873 GRCh37: 3:48508428-48508429
GRCh38: 3:48467029-48467030
2 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) Deletion Pathogenic 126393 rs79318303 GRCh37: 3:48508913-48508930
GRCh38: 3:48467514-48467531
3 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.294dup (p.Cys99fs) Duplication Pathogenic 225499 rs760594164 GRCh37: 3:48508346-48508347
GRCh38: 3:48466947-48466948
4 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) Duplication Pathogenic 126386 rs77371662 GRCh37: 3:48508419-48508420
GRCh38: 3:48467020-48467021
5 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.703dup (p.Val235fs) Duplication Pathogenic 449514 rs1553820434 GRCh37: 3:48508753-48508754
GRCh38: 3:48467354-48467355
6 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.228_235CTGCAGCC[3] (p.Ser82fs) Microsatellite Pathogenic 839889 GRCh37: 3:48508280-48508281
GRCh38: 3:48466881-48466882
7 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.228_235CTGCAGCC[1] (p.Pro79fs) Microsatellite Pathogenic 850507 GRCh37: 3:48508281-48508288
GRCh38: 3:48466882-48466889
8 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.23dup (p.Pro10fs) Duplication Pathogenic 953494 GRCh37: 3:48508072-48508073
GRCh38: 3:48466673-48466674
9 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) SNV Pathogenic 4185 rs121908117 GRCh37: 3:48508106-48508106
GRCh38: 3:48466707-48466707
10 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) SNV Pathogenic 4185 rs121908117 GRCh37: 3:48508106-48508106
GRCh38: 3:48466707-48466707
11 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.341G>A (p.Arg114His) SNV Pathogenic 4179 rs72556554 GRCh37: 3:48508395-48508395
GRCh38: 3:48466996-48466996
12 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.23dup (p.Pro10fs) Duplication Likely pathogenic 953494 GRCh37: 3:48508072-48508073
GRCh38: 3:48466673-48466674
13 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) Duplication Likely pathogenic 4181 rs74556809 GRCh37: 3:48508650-48508651
GRCh38: 3:48467251-48467252
14 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.416del (p.Ala139fs) Deletion Likely pathogenic 843202 GRCh37: 3:48508470-48508470
GRCh38: 3:48467071-48467071
15 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) SNV Likely pathogenic 835524 GRCh37: 3:48508850-48508850
GRCh38: 3:48467451-48467451
16 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) SNV Likely pathogenic 535846 rs1553820518 GRCh37: 3:48508883-48508883
GRCh38: 3:48467484-48467484
17 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) SNV Likely pathogenic 209198 rs760838030 GRCh37: 3:48508394-48508394
GRCh38: 3:48466995-48466995
18 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) SNV Uncertain significance 522920 rs755919767 GRCh37: 3:48508272-48508272
GRCh38: 3:48466873-48466873
19 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) SNV Uncertain significance 374471 rs769885715 GRCh37: 3:48508977-48508977
GRCh38: 3:48467578-48467578
20 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) SNV Uncertain significance 586842 rs112741962 GRCh37: 3:48508793-48508793
GRCh38: 3:48467394-48467394
21 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.219G>A (p.Pro73=) SNV Uncertain significance 448703 rs778992418 GRCh37: 3:48508273-48508273
GRCh38: 3:48466874-48466874
22 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) SNV Uncertain significance 570429 rs146524913 GRCh37: 3:48508677-48508677
GRCh38: 3:48467278-48467278
23 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.338G>A (p.Arg113Gln) SNV Uncertain significance 571633 rs201496629 GRCh37: 3:48508392-48508392
GRCh38: 3:48466993-48466993
24 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.690G>C (p.Arg230Ser) SNV Uncertain significance 575190 rs55691060 GRCh37: 3:48508744-48508744
GRCh38: 3:48467345-48467345
25 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.869C>T (p.Pro290Leu) SNV Uncertain significance 576299 rs148833270 GRCh37: 3:48508923-48508923
GRCh38: 3:48467524-48467524
26 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) SNV Uncertain significance 535847 rs199614534 GRCh37: 3:48508436-48508436
GRCh38: 3:48467037-48467037
27 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.587C>T (p.Thr196Met) SNV Uncertain significance 535848 rs754998766 GRCh37: 3:48508641-48508641
GRCh38: 3:48467242-48467242
28 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.251T>C (p.Ile84Thr) SNV Uncertain significance 651268 rs748535974 GRCh37: 3:48508305-48508305
GRCh38: 3:48466906-48466906
29 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.640G>A (p.Ala214Thr) SNV Uncertain significance 652641 rs1575293697 GRCh37: 3:48508694-48508694
GRCh38: 3:48467295-48467295
30 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) SNV Uncertain significance 374471 rs769885715 GRCh37: 3:48508977-48508977
GRCh38: 3:48467578-48467578
31 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.418A>G (p.Met140Val) SNV Uncertain significance 345777 rs761526437 GRCh37: 3:48508472-48508472
GRCh38: 3:48467073-48467073
32 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.734C>G (p.Pro245Arg) SNV Uncertain significance 662525 rs1560113388 GRCh37: 3:48508788-48508788
GRCh38: 3:48467389-48467389
33 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.784C>T (p.Pro262Ser) SNV Uncertain significance 665857 rs867148059 GRCh37: 3:48508838-48508838
GRCh38: 3:48467439-48467439
34 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) SNV Uncertain significance 586840 rs113107733 GRCh37: 3:48508733-48508733
GRCh38: 3:48467334-48467334
35 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.427C>G (p.Leu143Val) SNV Uncertain significance 835233 GRCh37: 3:48508481-48508481
GRCh38: 3:48467082-48467082
36 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.250A>G (p.Ile84Val) SNV Uncertain significance 647120 rs775075513 GRCh37: 3:48508304-48508304
GRCh38: 3:48466905-48466905
37 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.899C>T (p.Ala300Val) SNV Uncertain significance 467832 rs1553820567 GRCh37: 3:48508953-48508953
GRCh38: 3:48467554-48467554
38 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.24G>A (p.Pro8=) SNV Uncertain significance 844413 GRCh37: 3:48508078-48508078
GRCh38: 3:48466679-48466679
39 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.191T>C (p.Val64Ala) SNV Uncertain significance 845321 GRCh37: 3:48508245-48508245
GRCh38: 3:48466846-48466846
40 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.247G>A (p.Glu83Lys) SNV Uncertain significance 847510 GRCh37: 3:48508301-48508301
GRCh38: 3:48466902-48466902
41 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.817C>G (p.Leu273Val) SNV Uncertain significance 851180 GRCh37: 3:48508871-48508871
GRCh38: 3:48467472-48467472
42 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.142_144del (p.Pro48del) Deletion Uncertain significance 841338 GRCh37: 3:48508192-48508194
GRCh38: 3:48466793-48466795
43 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.935C>G (p.Pro312Arg) SNV Uncertain significance 861671 GRCh37: 3:48508989-48508989
GRCh38: 3:48467590-48467590
44 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.127G>T (p.Ala43Ser) SNV Uncertain significance 861797 GRCh37: 3:48508181-48508181
GRCh38: 3:48466782-48466782
45 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.757C>G (p.His253Asp) SNV Uncertain significance 862908 GRCh37: 3:48508811-48508811
GRCh38: 3:48467412-48467412
46 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.184C>T (p.Arg62Cys) SNV Uncertain significance 862993 GRCh37: 3:48508238-48508238
GRCh38: 3:48466839-48466839
47 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.908C>T (p.Thr303Ile) SNV Uncertain significance 934565 GRCh37: 3:48508962-48508962
GRCh38: 3:48467563-48467563
48 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.212T>C (p.Val71Ala) SNV Uncertain significance 936411 GRCh37: 3:48508266-48508266
GRCh38: 3:48466867-48466867
49 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.916G>A (p.Gly306Arg) SNV Uncertain significance 940759 GRCh37: 3:48508970-48508970
GRCh38: 3:48467571-48467571
50 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.463A>G (p.Ser155Gly) SNV Uncertain significance 946334 GRCh37: 3:48508517-48508517
GRCh38: 3:48467118-48467118

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

72
# 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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 TREX1 TBK1 STING1 SAMHD1 IRF5 IRF3
2
Show member pathways
13.66 TBK1 STING1 IRF3 IFNB1 IFNA1 IFIH1
3
Show member pathways
13.19 SAMHD1 IRF5 IRF3 IFNB1 IFNA1 DDX58
4
Show member pathways
13.06 TBK1 IRF5 IRF3 IFNB1 IFNA1 IFIH1
5
Show member pathways
12.8 TBK1 STING1 SAMHD1 IRF3 IFNB1 IFNA1
6
Show member pathways
12.66 TBK1 IRF3 IFNB1 IFNA1 IFIH1 DDX58
7 12.38 TBK1 IRF5 IRF3 IFNA1 IFIH1 IFI16
8 12.3 TBK1 STING1 IRF3 IFNB1 CGAS
9
Show member pathways
12.3 TBK1 STING1 IRF3 IFNB1 IFNA1 IFIH1
10
Show member pathways
12.26 TBK1 IRF3 IFNB1 IFNA1
11 12.26 TBK1 STING1 IRF3 IFNB1 IFNA1 IFIH1
12
Show member pathways
12.19 SAMHD1 IRF5 IRF3 IFNB1 IFNA1 DDX58
13
Show member pathways
12.12 SAMHD1 IRF5 IRF3 IFNB1 IFNA1 ADAR
14 12.1 TBK1 STING1 IRF3 IFNB1 IFNA1 IFI16
15
Show member pathways
11.87 TREX1 TBK1 STING1 IRF3 IFNB1 IFNA1
16 11.76 IRF5 IFNB1 IFI16
17
Show member pathways
11.03 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 9.8 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 positive regulation of transcription by RNA polymerase II GO:0045944 10.19 TBK1 STING1 IRF5 IRF3 IFNB1 IFI16
2 viral process GO:0016032 10.12 TBK1 STING1 SAMHD1 IRF3 IFIH1 DDX58
3 immune system process GO:0002376 10.11 TBK1 STING1 SAMHD1 IRF5 IRF3 IFIH1
4 cellular response to DNA damage stimulus GO:0006974 10.09 TREX1 SAMHD1 IRF3 EXO1 CGAS ATRIP
5 DNA repair GO:0006281 10.04 TREX1 SAMHD1 EXO1 CGAS ATRIP
6 innate immune response GO:0045087 10 TREX1 TBK1 STING1 SAMHD1 IRF5 IRF3
7 regulation of gene expression GO:0010468 9.99 TREX1 TBK1 STING1 IRF3
8 DNA replication GO:0006260 9.97 TREX1 SAMHD1 RNASEH2A EXO1 ATRIP
9 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.96 TREX1 RNASEH2A EXO1 DNASE1L3 ATRIP
10 response to virus GO:0009615 9.95 TBK1 IFNB1 IFIH1 DDX58 ADAR
11 positive regulation of type I interferon production GO:0032481 9.88 TBK1 STING1 IRF5 IRF3 IFI16 CGAS
12 regulation of inflammatory response GO:0050727 9.85 TREX1 STING1 IRF3
13 positive regulation of interferon-beta production GO:0032728 9.85 TBK1 IRF5 IRF3 IFIH1 DDX58
14 response to exogenous dsRNA GO:0043330 9.84 IRF3 IFNB1 IFNA1 DDX58
15 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.83 RNASEH2B RNASEH2A EXO1
16 negative regulation of type I interferon production GO:0032480 9.83 TBK1 IRF3 IFIH1 DDX58
17 positive regulation of interferon-alpha production GO:0032727 9.83 TBK1 IRF5 IRF3 IFIH1 DDX58
18 activation of innate immune response GO:0002218 9.81 TBK1 STING1 IFI16 CGAS
19 positive regulation of defense response to virus by host GO:0002230 9.8 STING1 DDX58 CGAS
20 mismatch repair GO:0006298 9.79 TREX1 RNASEH2A EXO1
21 cellular response to interferon-beta GO:0035458 9.78 TREX1 STING1 IFNB1 IFI16
22 RNA catabolic process GO:0006401 9.77 RNASEH2C RNASEH2B RNASEH2A
23 negative regulation of type I interferon-mediated signaling pathway GO:0060339 9.76 TREX1 SAMHD1 ADAR
24 regulation of type I interferon production GO:0032479 9.72 TREX1 TBK1 STING1 IRF3 CGAS
25 type I interferon signaling pathway GO:0060337 9.7 TREX1 SAMHD1 IRF5 IRF3 IFNB1 IFNA1
26 positive regulation of peptidyl-serine phosphorylation of STAT protein GO:0033141 9.68 IFNB1 IFNA1
27 regulation of innate immune response GO:0045088 9.68 TREX1 SAMHD1
28 determination of adult lifespan GO:0008340 9.68 TREX1 CGAS
29 natural killer cell activation involved in immune response GO:0002323 9.68 IFNB1 IFNA1
30 somatic hypermutation of immunoglobulin genes GO:0016446 9.67 SAMHD1 EXO1
31 positive regulation of type I interferon-mediated signaling pathway GO:0060340 9.67 TBK1 IRF3
32 regulation of cellular metabolic process GO:0031323 9.67 TREX1 TBK1 STING1
33 regulation of T cell activation GO:0050863 9.66 TREX1 CGAS
34 regulation of immunoglobulin production GO:0002637 9.66 TREX1 CGAS
35 positive regulation of response to cytokine stimulus GO:0060760 9.65 IFIH1 DDX58
36 DNA catabolic process GO:0006308 9.64 TREX1 DNASE1L3
37 detection of virus GO:0009597 9.63 IFIH1 DDX58
38 MDA-5 signaling pathway GO:0039530 9.63 IRF3 IFIH1
39 cytoplasmic pattern recognition receptor signaling pathway in response to virus GO:0039528 9.61 IFIH1 DDX58
40 regulation of type III interferon production GO:0034344 9.6 IFIH1 DDX58
41 defense response to virus GO:0051607 9.44 TREX1 TBK1 STING1 SAMHD1 IRF5 IRF3
42 cellular response to exogenous dsRNA GO:0071360 9.43 STING1 IRF3 IFNB1 IFIH1 DDX58 CGAS

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.97 TREX1 SAMHD1 RNASEH2A IFIH1 EXO1 DNASE1L3
2 DNA binding GO:0003677 9.97 TREX1 IRF5 IRF3 IFIH1 IFI16 EXO1
3 endonuclease activity GO:0004519 9.61 RNASEH2A EXO1 DNASE1L3
4 identical protein binding GO:0042802 9.61 TREX1 TBK1 STING1 SAMHD1 IRF5 IRF3
5 double-stranded RNA binding GO:0003725 9.58 IFIH1 DDX58 ADAR
6 type I interferon receptor binding GO:0005132 9.46 IFNB1 IFNA1
7 nuclease activity GO:0004518 9.46 TREX1 RNASEH2A EXO1 DNASE1L3
8 exonuclease activity GO:0004527 9.43 TREX1 EXO1 ATRIP
9 RNA-DNA hybrid ribonuclease activity GO:0004523 8.8 RNASEH2B RNASEH2A EXO1

Sources for Chilblain Lupus 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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