MCID: CHL140
MIFTS: 44

Chilblain Lupus 1

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

Aliases & Classifications for Chilblain Lupus 1

MalaCards integrated aliases for Chilblain Lupus 1:

Name: Chilblain Lupus 1 57 75 29 6 44 73
Chilblain Lupus 57 12 59 13 6 15 40
Chilblain Lupus Erythematosus 75 29 6
Chbl1 57 75
Lupus Erythematosus, Cutaneous 44
Hutchinson Lupus 75
Chle 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
chilblain lupus 1:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 610448
Disease Ontology 12 DOID:0060386
Orphanet 59 ORPHA90280
UMLS via Orphanet 74 C0024145
ICD10 via Orphanet 34 L93.2
MESH via Orphanet 45 C535924
UMLS 73 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)

MalaCards based summary : Chilblain Lupus 1, also known as chilblain lupus, is related to cutaneous lupus erythematosus and subacute cutaneous lupus erythematosus. 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. Affiliated tissues include skin, and related phenotypes are abnormality of the nail and arthralgia

UniProtKB/Swiss-Prot : 75 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 at temperatures less than 10 degrees centigrade.

Related Diseases for Chilblain Lupus 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Chilblain Lupus 1:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the nail 32 occasional (7.5%) HP:0001597
2 arthralgia 32 HP:0002829
3 antinuclear antibody positivity 32 occasional (7.5%) HP:0003493
4 skin ulcer 32 HP:0200042

MGI Mouse Phenotypes related to Chilblain Lupus 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.9 CGAS EXO1 GZMA IFIH1 IFNB1 IL3RA
2 immune system MP:0005387 9.73 CGAS EXO1 GZMA IFIH1 IFNB1 IL3RA
3 mortality/aging MP:0010768 9.36 JAK1 NDUFS7 SAMHD1 TMEM173 TNFRSF1B TREX1

Drugs & Therapeutics for Chilblain Lupus 1

Search Clinical Trials , 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 Erythematosus 29

Anatomical Context for Chilblain Lupus 1

MalaCards organs/tissues related to Chilblain Lupus 1:

41
Skin

Publications for Chilblain Lupus 1

Articles related to Chilblain Lupus 1:

(show all 49)
# Title Authors Year
1
Aicardi-GoutiA"res syndrome: cold-induced acral blemish is not always cryoglobulinaemic vasculitis or chilblain lupus. ( 29341198 )
2018
2
Comparative Analysis of Chilblain Lupus Erythematosus and Idiopathic Perniosis: Histopathologic Features and Immunohistochemistry for CD123 and CD30. ( 28719438 )
2017
3
Familial Chilblain Lupus - What Can We Learn from Type I Interferonopathies? ( 28844088 )
2017
4
A case of chilblain lupus erythematosus with lupus erythematosus/lichen planus overlap syndrome. ( 28322475 )
2017
5
Chilblain lupus and steroid-responsive pancytopenia precede monosomy 7-linked AML as manifestation of rasopathy. ( 28802089 )
2017
6
[Familial chilblain lupus : Type 1 interferonopathy with model character]. ( 28389709 )
2017
7
Chilblain lupus erythematosus treated successfully with mycophenolate mofetil. ( 28345755 )
2017
8
Familial chilblain lupus due to a gain-of-function mutation in STING. ( 27566796 )
2016
9
JAK1/2 Inhibitor Ruxolitinib Controls a Case of Chilblain Lupus Erythematosus. ( 26916391 )
2016
10
Familial Chilblain Lupus Due to a Novel Mutation in the Exonuclease III Domain of 3' Repair Exonuclease 1 (TREX1). ( 25517357 )
2015
11
Chilblain lupus erythematosus in an adolescent girl. ( 25506560 )
2014
12
Chilblain lupus erythematosus in a patient affected by Hodgkin lymphoma. ( 23373885 )
2013
13
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. ( 22829693 )
2013
14
A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. ( 23989343 )
2013
15
Docetaxel-induced relapse of subacute cutaneous lupus erythematosus and chilblain lupus. ( 23848065 )
2013
16
Systemic involvement in TREX1-associated familial chilblain lupus. ( 24034389 )
2013
17
Deregulated Type I IFN Response in TREX1-Associated Familial Chilblain Lupus. ( 24270665 )
2013
18
Chilblain lupus erythematosus. ( 24285807 )
2013
19
Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-GoutiA"res syndrome. ( 22356656 )
2012
20
Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1. ( 22718116 )
2012
21
Chilblain lupus induced by TNF-I+ antagonists: a case report and literature review. ( 22207249 )
2012
22
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. ( 21204240 )
2011
23
Blue (or purple) toes: chilblains or chilblain lupus-like lesions are a manifestation of Aicardi-GoutiA"res syndrome and familial chilblain lupus. ( 19751886 )
2009
24
Lupus pernio or chilblain lupus?: two different entities. ( 19736207 )
2009
25
Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1. ( 19478477 )
2009
26
Chilblain lupus erythematosus--a review of literature. ( 18543054 )
2008
27
Cutaneous histopathological findings of Aicardi-GoutiA"res syndrome, overlap with chilblain lupus. ( 18422690 )
2008
28
Chilblain lupus erythematosus-a review of literature. ( 19125230 )
2008
29
A mutation in TREX1 that impairs susceptibility to granzyme A- mediated cell death underlies familial chilblain lupus. ( 17440703 )
2007
30
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. ( 17357087 )
2007
31
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. ( 16960810 )
2006
32
Infliximab induced chilblain lupus in a patient with rheumatoid arthritis. ( 15801042 )
2005
33
Chilblain lupus erythematosus mimicking acrofacial vitiligo. ( 17642933 )
2003
34
Chilblain lupus erythematosus lesions precipitated by the cold. ( 11926337 )
2002
35
Verrucous form of chilblain lupus erythematosus. ( 11763388 )
2001
36
Chilblain lupus erythematosus Hutchinson: successful treatment with mycophenolate mofetil. ( 11176709 )
2001
37
Lethal pancytopenia associated with chilblain lupus erythematosus. ( 11200851 )
2000
38
Chilblain lupus erythematosus is associated with antibodies to SSA/Ro. ( 10342714 )
1999
39
Chilblain lupus erythematosus is associated with antibodies to SSA/Ro. ( 10599339 )
1999
40
Chilblain lupus erythematosus of Hutchinson responding to surgical treatment: a report of two patients with anti-Ro/SS-A antibodies. ( 8731683 )
1996
41
Violaceous rash of dorsal fingers in a woman. Diagnosis: chilblain lupus erythematosus (perniosis). ( 8629851 )
1996
42
Chilblain lupus erythematosus (lupus pernio): clinical review of the Mayo Clinic experience and proposal of diagnostic criteria. ( 7867381 )
1994
43
Pregnancy-induced chilblain lupus erythematosus. ( 8252769 )
1993
44
Chilblain lupus erythematosus and lupus pernio--the same entity? ( 1421633 )
1992
45
Chilblain lupus erythematosus: report of 15 cases. ( 1558991 )
1992
46
Chilblain lupus erythematosus with response to chemical sympathectomy. ( 465337 )
1979
47
Chilblain lupus erythematosus (Hutchinson). A clinical and laboratory study of 17 patients. ( 656324 )
1978
48
Chilblain lupus erythematosus as a manifestation of lymphoma. ( 5228933 )
1967
49
CHILBLAIN LUPUS ERYTHEMATOSUS. ( 14190875 )
1964

Variations for Chilblain Lupus 1

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

75
# Symbol AA change Variation ID SNP ID
1 TREX1 p.Asp18Asn VAR_037948 rs121908117

ClinVar genetic disease variations for Chilblain Lupus 1:

6
(show top 50) (show all 81)
# Gene Variation Type Significance SNP ID Assembly Location
1 TREX1 TREX1, 1-BP DUP, 375T duplication Pathogenic
2 TREX1 NM_033629.4(TREX1): c.52G> A (p.Asp18Asn) single nucleotide variant Pathogenic rs121908117 GRCh37 Chromosome 3, 48508106: 48508106
3 TREX1 NM_033629.4(TREX1): c.52G> A (p.Asp18Asn) single nucleotide variant Pathogenic rs121908117 GRCh38 Chromosome 3, 48466707: 48466707
4 TREX1 NM_033629.4(TREX1): c.912G> A (p.Leu304=) single nucleotide variant Benign rs3135945 GRCh38 Chromosome 3, 48467567: 48467567
5 TREX1 NM_033629.4(TREX1): c.912G> A (p.Leu304=) single nucleotide variant Benign rs3135945 GRCh37 Chromosome 3, 48508966: 48508966
6 TREX1 NM_033629.4(TREX1): c.198G> A (p.Lys66=) single nucleotide variant Benign/Likely benign rs3135943 GRCh38 Chromosome 3, 48466853: 48466853
7 TREX1 NM_033629.4(TREX1): c.198G> A (p.Lys66=) single nucleotide variant Benign/Likely benign rs3135943 GRCh37 Chromosome 3, 48508252: 48508252
8 TREX1 NM_033629.5(TREX1): c.183G> A (p.Pro61=) single nucleotide variant Likely benign rs55852466 GRCh38 Chromosome 3, 48466838: 48466838
9 TREX1 NM_033629.5(TREX1): c.183G> A (p.Pro61=) single nucleotide variant Likely benign rs55852466 GRCh37 Chromosome 3, 48508237: 48508237
10 TREX1 NM_033629.4(TREX1): c.462T> C (p.Asp154=) single nucleotide variant Benign/Likely benign rs3135944 GRCh38 Chromosome 3, 48467117: 48467117
11 TREX1 NM_033629.4(TREX1): c.462T> C (p.Asp154=) single nucleotide variant Benign/Likely benign rs3135944 GRCh37 Chromosome 3, 48508516: 48508516
12 SAMHD1 NM_015474.3(SAMHD1): c.*1008C> G single nucleotide variant Likely benign rs116489517 GRCh38 Chromosome 20, 36891924: 36891924
13 SAMHD1 NM_015474.3(SAMHD1): c.*1008C> G single nucleotide variant Likely benign rs116489517 GRCh37 Chromosome 20, 35520327: 35520327
14 SAMHD1 NM_015474.3(SAMHD1): c.*711A> C single nucleotide variant Uncertain significance rs886056644 GRCh38 Chromosome 20, 36892221: 36892221
15 SAMHD1 NM_015474.3(SAMHD1): c.*711A> C single nucleotide variant Uncertain significance rs886056644 GRCh37 Chromosome 20, 35520624: 35520624
16 SAMHD1 NM_015474.3(SAMHD1): c.*240G> A single nucleotide variant Uncertain significance rs143588093 GRCh38 Chromosome 20, 36892692: 36892692
17 SAMHD1 NM_015474.3(SAMHD1): c.*240G> A single nucleotide variant Uncertain significance rs143588093 GRCh37 Chromosome 20, 35521095: 35521095
18 SAMHD1 NM_015474.3(SAMHD1): c.*95T> C single nucleotide variant Likely benign rs147220022 GRCh38 Chromosome 20, 36892837: 36892837
19 SAMHD1 NM_015474.3(SAMHD1): c.*95T> C single nucleotide variant Likely benign rs147220022 GRCh37 Chromosome 20, 35521240: 35521240
20 SAMHD1 NM_015474.3(SAMHD1): c.1037A> C (p.Glu346Ala) single nucleotide variant Uncertain significance rs886056648 GRCh37 Chromosome 20, 35545150: 35545150
21 SAMHD1 NM_015474.3(SAMHD1): c.1037A> C (p.Glu346Ala) single nucleotide variant Uncertain significance rs886056648 GRCh38 Chromosome 20, 36916747: 36916747
22 SAMHD1 NM_015474.3(SAMHD1): c.77C> T (p.Pro26Leu) single nucleotide variant Likely benign rs147240777 GRCh37 Chromosome 20, 35579970: 35579970
23 SAMHD1 NM_015474.3(SAMHD1): c.77C> T (p.Pro26Leu) single nucleotide variant Likely benign rs147240777 GRCh38 Chromosome 20, 36951567: 36951567
24 SAMHD1 NM_015474.3(SAMHD1): c.67T> A (p.Ser23Thr) single nucleotide variant Uncertain significance rs886056649 GRCh37 Chromosome 20, 35579980: 35579980
25 SAMHD1 NM_015474.3(SAMHD1): c.67T> A (p.Ser23Thr) single nucleotide variant Uncertain significance rs886056649 GRCh38 Chromosome 20, 36951577: 36951577
26 SAMHD1 NM_015474.3(SAMHD1): c.-39C> A single nucleotide variant Likely benign rs368233437 GRCh37 Chromosome 20, 35580085: 35580085
27 SAMHD1 NM_015474.3(SAMHD1): c.-39C> A single nucleotide variant Likely benign rs368233437 GRCh38 Chromosome 20, 36951682: 36951682
28 SAMHD1 NM_015474.3(SAMHD1): c.-110T> C single nucleotide variant Likely benign rs28372906 GRCh37 Chromosome 20, 35580156: 35580156
29 SAMHD1 NM_015474.3(SAMHD1): c.-110T> C single nucleotide variant Likely benign rs28372906 GRCh38 Chromosome 20, 36951753: 36951753
30 SAMHD1 NM_015474.3(SAMHD1): c.*362G> A single nucleotide variant Uncertain significance rs886056646 GRCh38 Chromosome 20, 36892570: 36892570
31 SAMHD1 NM_015474.3(SAMHD1): c.*362G> A single nucleotide variant Uncertain significance rs886056646 GRCh37 Chromosome 20, 35520973: 35520973
32 SAMHD1 NM_015474.3(SAMHD1): c.1593G> C (p.Arg531Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145735112 GRCh37 Chromosome 20, 35526858: 35526858
33 SAMHD1 NM_015474.3(SAMHD1): c.1593G> C (p.Arg531Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145735112 GRCh38 Chromosome 20, 36898455: 36898455
34 SAMHD1 NM_015474.3(SAMHD1): c.-10A> G single nucleotide variant Uncertain significance rs199721283 GRCh37 Chromosome 20, 35580056: 35580056
35 SAMHD1 NM_015474.3(SAMHD1): c.-10A> G single nucleotide variant Uncertain significance rs199721283 GRCh38 Chromosome 20, 36951653: 36951653
36 SAMHD1 NM_015474.3(SAMHD1): c.-31T> C single nucleotide variant Likely benign rs142162198 GRCh37 Chromosome 20, 35580077: 35580077
37 SAMHD1 NM_015474.3(SAMHD1): c.-31T> C single nucleotide variant Likely benign rs142162198 GRCh38 Chromosome 20, 36951674: 36951674
38 SAMHD1 NM_015474.3(SAMHD1): c.*536C> T single nucleotide variant Uncertain significance rs886056645 GRCh38 Chromosome 20, 36892396: 36892396
39 SAMHD1 NM_015474.3(SAMHD1): c.*536C> T single nucleotide variant Uncertain significance rs886056645 GRCh37 Chromosome 20, 35520799: 35520799
40 SAMHD1 NM_015474.3(SAMHD1): c.*503A> G single nucleotide variant Uncertain significance rs757372495 GRCh38 Chromosome 20, 36892429: 36892429
41 SAMHD1 NM_015474.3(SAMHD1): c.*503A> G single nucleotide variant Uncertain significance rs757372495 GRCh37 Chromosome 20, 35520832: 35520832
42 SAMHD1 NM_015474.3(SAMHD1): c.*71C> A single nucleotide variant Likely benign rs138927042 GRCh38 Chromosome 20, 36892861: 36892861
43 SAMHD1 NM_015474.3(SAMHD1): c.*71C> A single nucleotide variant Likely benign rs138927042 GRCh37 Chromosome 20, 35521264: 35521264
44 SAMHD1 NM_015474.3(SAMHD1): c.1735A> G (p.Thr579Ala) single nucleotide variant Uncertain significance rs886056647 GRCh38 Chromosome 20, 36897833: 36897833
45 SAMHD1 NM_015474.3(SAMHD1): c.1735A> G (p.Thr579Ala) single nucleotide variant Uncertain significance rs886056647 GRCh37 Chromosome 20, 35526236: 35526236
46 SAMHD1 NM_015474.3(SAMHD1): c.1393C> A (p.Gln465Lys) single nucleotide variant Uncertain significance rs142393072 GRCh37 Chromosome 20, 35533784: 35533784
47 SAMHD1 NM_015474.3(SAMHD1): c.1393C> A (p.Gln465Lys) single nucleotide variant Uncertain significance rs142393072 GRCh38 Chromosome 20, 36905381: 36905381
48 SAMHD1 NM_015474.3(SAMHD1): c.840C> T (p.Val280=) single nucleotide variant Uncertain significance rs17853622 GRCh37 Chromosome 20, 35547779: 35547779
49 SAMHD1 NM_015474.3(SAMHD1): c.840C> T (p.Val280=) single nucleotide variant Uncertain significance rs17853622 GRCh38 Chromosome 20, 36919376: 36919376
50 SAMHD1 NM_015474.3(SAMHD1): c.697-11A> G single nucleotide variant Uncertain significance rs200458478 GRCh37 Chromosome 20, 35547933: 35547933

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 CGAS IFIH1 IFNB1 IL3RA JAK1 MX1
2
Show member pathways
13.09 IFNB1 IL3RA JAK1 MX1 SAMHD1 TNFRSF1B
3
Show member pathways
12.47 CGAS IFIH1 IFNB1 TMEM173 TREX1
4 12.23 GZMA IFIH1 JAK1 PIR TNFRSF1B
5
Show member pathways
12.05 IFNB1 JAK1 MX1 SAMHD1 TRIM21
6
Show member pathways
11.95 IFNB1 IL3RA JAK1 MX1 SAMHD1
7 11.76 ACP5 IFNB1 JAK1
8 11.63 IFNB1 IL3RA JAK1
9
Show member pathways
11.43 CGAS IFIH1 TMEM173 TREX1 TRIM21
10 11 CXCL9 IFNB1 JAK1
11
Show member pathways
10.86 JAK1 MX1
12 10.66 ACP5 IFNB1

GO Terms for Chilblain Lupus 1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.77 CGAS EXO1 IFIH1 MX1 TMEM173
2 cytokine-mediated signaling pathway GO:0019221 9.76 IFNB1 IL3RA JAK1 TNFRSF1B
3 innate immune response GO:0045087 9.7 CGAS IFIH1 JAK1 MX1 SAMHD1 TMEM173
4 defense response GO:0006952 9.69 CXCL9 IFNB1 MX1
5 response to virus GO:0009615 9.61 IFIH1 IFNB1 MX1
6 type I interferon signaling pathway GO:0060337 9.56 IFNB1 JAK1 MX1 SAMHD1
7 regulation of type I interferon-mediated signaling pathway GO:0060338 9.52 IFNB1 JAK1
8 regulation of type I interferon production GO:0032479 9.5 TMEM173 TREX1 TRIM21
9 positive regulation of defense response to virus by host GO:0002230 9.49 CGAS TMEM173
10 activation of innate immune response GO:0002218 9.48 CGAS TMEM173
11 cellular response to interferon-beta GO:0035458 9.4 IFNB1 TMEM173
12 cellular response to exogenous dsRNA GO:0071360 9.26 CGAS IFIH1 IFNB1 TMEM173
13 defense response to virus GO:0051607 9.17 CGAS CXCL9 IFIH1 IFNB1 MX1 SAMHD1

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.32 ACP5 CGAS EXO1 IFIH1 JAK1 NDUFS7

Sources for Chilblain Lupus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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