MCID: FML337
MIFTS: 20

Familial Chilblain Lupus

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

Aliases & Classifications for Familial Chilblain Lupus

MalaCards integrated aliases for Familial Chilblain Lupus:

Name: Familial Chilblain Lupus 58 36

Classifications:

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


External Ids:

KEGG 36 H00291
Orphanet 58 ORPHA481662

Summaries for Familial Chilblain Lupus

KEGG : 36 Familial chilblain lupus (FCL) is a rare, inherited form of cutaneous lupus with prominent skin manifestations in acral parts of the body. Two families with autosomal dominant-inherited chilblain lupus have been reported. First symptoms manifest in early childhood, developing hypergammaglobulinemia and rheumatoid factor antibody production. In FCL, missense mutations in TREX1 that decrease its exonuclease activity were described. The failure of DNA degradation can result in aberrant immune response.

MalaCards based summary : Familial Chilblain Lupus is related to type 1 interferonopathy and aicardi-goutieres syndrome 1. An important gene associated with Familial Chilblain Lupus is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways is Cytosolic DNA-sensing pathway.

Related Diseases for Familial Chilblain Lupus

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



Diseases related to Familial Chilblain Lupus

Symptoms & Phenotypes for Familial Chilblain Lupus

Drugs & Therapeutics for Familial Chilblain Lupus

Search Clinical Trials , NIH Clinical Center for Familial Chilblain Lupus

Genetic Tests for Familial Chilblain Lupus

Anatomical Context for Familial Chilblain Lupus

Publications for Familial Chilblain Lupus

Articles related to Familial Chilblain Lupus:

(show all 46)
# Title Authors PMID Year
1
The Overlap between Genetic Susceptibility to COVID-19 and Skin Diseases. 61
33494631 2021
2
Different Clinical Manifestations of Three Prime Repair Exonuclease 1 Mutation: A Case Series. 61
33623276 2020
3
TREX1 variants in Sjogren's syndrome related lymphomagenesis. 61
31326279 2020
4
Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi-Goutie'res syndrome. 61
32293470 2020
5
Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation. 61
30673078 2019
6
TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia. 61
30685859 2019
7
Measuring TREX1 and TREX2 exonuclease activities. 61
31455522 2019
8
[Familial chilblain lupus: Four cases spanning three generations]. 61
30217686 2018
9
A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis. 61
28919362 2017
10
Familial Chilblain Lupus - What Can We Learn from Type I Interferonopathies? 61
28844088 2017
11
Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion. 61
28334850 2017
12
[Familial chilblain lupus : Type 1 interferonopathy with model character]. 61
28389709 2017
13
Familial chilblain lupus due to a gain-of-function mutation in STING. 61
27566796 2017
14
Methods of Assessing STING Activation and Trafficking. 61
28808969 2017
15
Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy. 61
26584874 2016
16
Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes. 61
26284909 2015
17
[Type I interferonopathies]. 61
26363997 2015
18
Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis. 61
25992765 2015
19
Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease. 61
25848017 2015
20
Human disease phenotypes associated with mutations in TREX1. 61
25731743 2015
21
Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1). 61
25517357 2015
22
[Genetics of lupus erythematosus]. 61
25659384 2015
23
Deregulated type I IFN response in TREX1-associated familial chilblain lupus. 61
24270665 2014
24
The Arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers. 61
24616097 2014
25
A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. 61
23989343 2013
26
Systemic involvement in TREX1-associated familial chilblain lupus. 61
24034389 2013
27
Innate immune processes in lupus erythematosus. 61
23290784 2013
28
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. 61
22829693 2013
29
Aicardi-Goutières syndrome. 61
23622384 2013
30
Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome. 61
22356656 2012
31
Aicardi-Goutieres syndrome: from patients to genes and beyond. 61
22149989 2012
32
Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease. 61
22071149 2012
33
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. 61
21808053 2011
34
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. 61
21204240 2011
35
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. 61
19808788 2009
36
Blue (or purple) toes: chilblains or chilblain lupus-like lesions are a manifestation of Aicardi-Goutières syndrome and familial chilblain lupus. 61
19751886 2009
37
Properties of autonomous 3'-->5' exonucleases. 61
19817680 2009
38
Biochemical properties of mammalian TREX1 and its association with DNA replication and inherited inflammatory disease. 61
19442247 2009
39
Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1. 61
19478477 2009
40
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. 61
18805785 2008
41
Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus. 61
18422690 2008
42
New roles for the major human 3'-5' exonuclease TREX1 in human disease. 61
18583934 2008
43
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 61
17660818 2007
44
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. 61
17440703 2007
45
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 61
17357087 2007
46
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. 61
16960810 2006

Variations for Familial Chilblain Lupus

Expression for Familial Chilblain Lupus

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

Pathways for Familial Chilblain Lupus

Pathways related to Familial Chilblain Lupus according to KEGG:

36
# Name Kegg Source Accession
1 Cytosolic DNA-sensing pathway hsa04623

GO Terms for Familial Chilblain Lupus

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.69 SAMHD1 STING1 TREX1
2 cellular response to DNA damage stimulus GO:0006974 9.65 ATRIP SAMHD1 TREX1
3 DNA repair GO:0006281 9.61 ATRIP SAMHD1 TREX1
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.52 ATRIP TREX1
5 defense response to virus GO:0051607 9.5 SAMHD1 STING1 TREX1
6 regulation of inflammatory response GO:0050727 9.49 STING1 TREX1
7 type I interferon signaling pathway GO:0060337 9.46 SAMHD1 TREX1
8 cellular response to interferon-beta GO:0035458 9.4 STING1 TREX1
9 regulation of innate immune response GO:0045088 9.37 SAMHD1 TREX1
10 regulation of type I interferon production GO:0032479 9.26 STING1 TREX1
11 negative regulation of type I interferon-mediated signaling pathway GO:0060339 9.16 SAMHD1 TREX1
12 DNA replication GO:0006260 9.13 ATRIP SAMHD1 TREX1
13 regulation of cellular metabolic process GO:0031323 8.62 STING1 TREX1

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

# Name GO ID Score Top Affiliating Genes
1 single-stranded DNA binding GO:0003697 8.96 TREX1 SAMHD1
2 exonuclease activity GO:0004527 8.62 TREX1 ATRIP

Sources for Familial Chilblain Lupus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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