MCID: FML337
MIFTS: 21

Familial Chilblain Lupus

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

Aliases & Classifications for Familial Chilblain Lupus

MalaCards integrated aliases for Familial Chilblain Lupus:

Name: Familial Chilblain Lupus 59 37

Classifications:



External Ids:

Orphanet 59 ORPHA481662
KEGG 37 H00291

Summaries for Familial Chilblain Lupus

MalaCards based summary : Familial Chilblain Lupus is related to chilblain lupus 1 and aicardi-goutieres syndrome. An important gene associated with Familial Chilblain Lupus is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways are Cytosolic DNA-sensing pathway and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. Affiliated tissues include skin and bone.

Related Diseases for Familial Chilblain Lupus

Diseases in the Familial Chilblain Lupus family:

Chilblain Lupus 1 Chilblain Lupus 2

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

# Related Disease Score Top Affiliating Genes
1 chilblain lupus 1 28.4 SAMHD1 TMEM173 TREX1
2 aicardi-goutieres syndrome 27.4 SAMHD1 TMEM173 TREX1
3 singleton-merten syndrome 11.1
4 cutaneous lupus erythematosus 10.0
5 lupus erythematosus 10.0
6 type i 10.0
7 cerebritis 9.9

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

MalaCards organs/tissues related to Familial Chilblain Lupus:

41
Skin, Bone

Publications for Familial Chilblain Lupus

Articles related to Familial Chilblain Lupus:

(show all 15)
# Title Authors Year
1
Familial Chilblain Lupus - What Can We Learn from Type I Interferonopathies? ( 28844088 )
2017
2
[Familial chilblain lupus : Type 1 interferonopathy with model character]. ( 28389709 )
2017
3
Familial chilblain lupus due to a gain-of-function mutation in STING. ( 27566796 )
2016
4
Familial Chilblain Lupus Due to a Novel Mutation in the Exonuclease III Domain of 3' Repair Exonuclease 1 (TREX1). ( 25517357 )
2015
5
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. ( 22829693 )
2013
6
A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. ( 23989343 )
2013
7
Systemic involvement in TREX1-associated familial chilblain lupus. ( 24034389 )
2013
8
Deregulated Type I IFN Response in TREX1-Associated Familial Chilblain Lupus. ( 24270665 )
2013
9
Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-GoutiA"res syndrome. ( 22356656 )
2012
10
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. ( 21204240 )
2011
11
Blue (or purple) toes: chilblains or chilblain lupus-like lesions are a manifestation of Aicardi-GoutiA"res syndrome and familial chilblain lupus. ( 19751886 )
2009
12
Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1. ( 19478477 )
2009
13
A mutation in TREX1 that impairs susceptibility to granzyme A- mediated cell death underlies familial chilblain lupus. ( 17440703 )
2007
14
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. ( 17357087 )
2007
15
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. ( 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:

37
# Name Kegg Source Accession
1 Cytosolic DNA-sensing pathway hsa04623

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.62 TMEM173 TREX1
2
Show member pathways
11.03 TMEM173 TREX1

GO Terms for Familial Chilblain Lupus

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

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.16 SAMHD1 TMEM173
2 defense response to virus GO:0051607 8.96 SAMHD1 TMEM173
3 regulation of type I interferon production GO:0032479 8.62 TMEM173 TREX1

Sources for Familial Chilblain Lupus

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
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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