CHBL2
MCID: CHL114
MIFTS: 25

Chilblain Lupus 2 (CHBL2)

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

Aliases & Classifications for Chilblain Lupus 2

MalaCards integrated aliases for Chilblain Lupus 2:

Name: Chilblain Lupus 2 57 72 29 13 6 70
Chbl2 57 72
Chilblain Lupus, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
phenotype is worsened by cold temperature
one family has been reported (as of january 2012)


HPO:

31
chilblain lupus 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614415
OMIM Phenotypic Series 57 PS610448
MeSH 44 D008178
MedGen 41 C3280721
UMLS 70 C3280721

Summaries for Chilblain Lupus 2

OMIM® : 57 Chilblain lupus is a rare cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by tender, bluish-red swellings and nodules on the hands, feet, ears, and nose, with histologic changes of lupus. The phenotype is induced by cold, such that patients frequently report a worsening of lesions in the winter months (summary by Ravenscroft et al., 2011). For a general description and a discussion of genetic heterogeneity of chilblain lupus, see CHBL1 (610448). (614415) (Updated 20-May-2021)

MalaCards based summary : Chilblain Lupus 2, also known as chbl2, is related to aicardi-goutieres syndrome 5 and aicardi-goutieres syndrome. An important gene associated with Chilblain Lupus 2 is SAMHD1 (SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1). Related phenotypes are vasculitis and cutaneous photosensitivity

UniProtKB/Swiss-Prot : 72 Chilblain lupus 2: 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.

Related Diseases for Chilblain Lupus 2

Diseases in the Familial Chilblain Lupus family:

Chilblain Lupus 1 Chilblain Lupus 2

Diseases related to Chilblain Lupus 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 5 9.6 TLDC2 SAMHD1
2 aicardi-goutieres syndrome 9.5 TLDC2 SAMHD1

Symptoms & Phenotypes for Chilblain Lupus 2

Human phenotypes related to Chilblain Lupus 2:

31
# Description HPO Frequency HPO Source Accession
1 vasculitis 31 HP:0002633
2 cutaneous photosensitivity 31 HP:0000992
3 edema 31 HP:0000969

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
cutaneous photosensitivity
painful bluish-red papules or nodules (fingers, toes, nose, cheek, ears)
angiomatous lesions on the fingers, persistent

Skin Nails Hair Skin Histology:
lymphocytic vasculitis
papillary dermal edema
interface dermatitis
keratinocyte necrosis

Clinical features from OMIM®:

614415 (Updated 20-May-2021)

Drugs & Therapeutics for Chilblain Lupus 2

Search Clinical Trials , NIH Clinical Center for Chilblain Lupus 2

Genetic Tests for Chilblain Lupus 2

Genetic tests related to Chilblain Lupus 2:

# Genetic test Affiliating Genes
1 Chilblain Lupus 2 29 SAMHD1

Anatomical Context for Chilblain Lupus 2

Publications for Chilblain Lupus 2

Articles related to Chilblain Lupus 2:

# Title Authors PMID Year
1
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. 57 6
21204240 2011
2
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 6
25604658 2015
3
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. 6
19525956 2009

Variations for Chilblain Lupus 2

ClinVar genetic disease variations for Chilblain Lupus 2:

6 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SAMHD1 , TLDC2 NM_080628.3(TLDC2):c.18-466G>A SNV Uncertain significance 338331 rs886056645 GRCh37: 20:35520799-35520799
GRCh38: 20:36892396-36892396
2 SAMHD1 NM_015474.3(SAMHD1):c.1037A>C (p.Glu346Ala) SNV Uncertain significance 338344 rs886056648 GRCh37: 20:35545150-35545150
GRCh38: 20:36916747-36916747
3 SAMHD1 , TLDC2 NM_080628.3(TLDC2):c.18-433T>C SNV Uncertain significance 338332 rs757372495 GRCh37: 20:35520832-35520832
GRCh38: 20:36892429-36892429
4 SAMHD1 NM_015474.3(SAMHD1):c.1735A>G (p.Thr579Ala) SNV Uncertain significance 338340 rs886056647 GRCh37: 20:35526236-35526236
GRCh38: 20:36897833-36897833
5 SAMHD1 , TLDC2 NM_080628.3(TLDC2):c.18-292C>T SNV Uncertain significance 338333 rs886056646 GRCh37: 20:35520973-35520973
GRCh38: 20:36892570-36892570
6 SAMHD1 , TLDC2 NM_080628.3(TLDC2):c.18-641T>G SNV Uncertain significance 338329 rs886056644 GRCh37: 20:35520624-35520624
GRCh38: 20:36892221-36892221
7 SAMHD1 NM_015474.3(SAMHD1):c.67T>A (p.Ser23Thr) SNV Uncertain significance 338351 rs886056649 GRCh37: 20:35579980-35579980
GRCh38: 20:36951577-36951577
8 SAMHD1 NM_015474.3(SAMHD1):c.840C>T (p.Val280=) SNV Uncertain significance 338345 rs17853622 GRCh37: 20:35547779-35547779
GRCh38: 20:36919376-36919376
9 SAMHD1 NM_015474.3(SAMHD1):c.1445G>A (p.Ser482Asn) SNV Uncertain significance 582618 rs373079404 GRCh37: 20:35532618-35532618
GRCh38: 20:36904215-36904215
10 SAMHD1 NM_015474.4(SAMHD1):c.1410+12G>T SNV Uncertain significance 895945 GRCh37: 20:35533755-35533755
GRCh38: 20:36905352-36905352
11 SAMHD1 NM_015474.4(SAMHD1):c.990T>C (p.Asp330=) SNV Uncertain significance 896228 GRCh37: 20:35545197-35545197
GRCh38: 20:36916794-36916794
12 SAMHD1 , TLDC2 NM_015474.4(SAMHD1):c.*882T>C SNV Uncertain significance 897681 GRCh37: 20:35520453-35520453
GRCh38: 20:36892050-36892050
13 SAMHD1 , TLDC2 NM_015474.4(SAMHD1):c.*871G>A SNV Uncertain significance 897682 GRCh37: 20:35520464-35520464
GRCh38: 20:36892061-36892061
14 SAMHD1 , TLDC2 NM_015474.4(SAMHD1):c.*717G>C SNV Uncertain significance 897683 GRCh37: 20:35520618-35520618
GRCh38: 20:36892215-36892215
15 SAMHD1 NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=) SNV Uncertain significance 897758 GRCh37: 20:35526246-35526246
GRCh38: 20:36897843-36897843
16 SAMHD1 NM_015474.4(SAMHD1):c.933C>T (p.Asp311=) SNV Uncertain significance 897830 GRCh37: 20:35545372-35545372
GRCh38: 20:36916969-36916969
17 SAMHD1 NM_015474.4(SAMHD1):c.543A>T (p.Ala181=) SNV Uncertain significance 897831 GRCh37: 20:35559245-35559245
GRCh38: 20:36930842-36930842
18 SAMHD1 , TLDC2 NM_015474.4(SAMHD1):c.*648C>T SNV Uncertain significance 898843 GRCh37: 20:35520687-35520687
GRCh38: 20:36892284-36892284
19 SAMHD1 , TLDC2 NM_015474.4(SAMHD1):c.*505T>A SNV Uncertain significance 898844 GRCh37: 20:35520830-35520830
GRCh38: 20:36892427-36892427
20 SAMHD1 NM_015474.4(SAMHD1):c.1271-5G>A SNV Uncertain significance 895947 GRCh37: 20:35533911-35533911
GRCh38: 20:36905508-36905508
21 SAMHD1 , TLDC2 NM_015474.4(SAMHD1):c.*104G>C SNV Uncertain significance 896158 GRCh37: 20:35521231-35521231
GRCh38: 20:36892828-36892828
22 SAMHD1 NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys) SNV Uncertain significance 896227 GRCh37: 20:35545172-35545172
GRCh38: 20:36916769-36916769
23 SAMHD1 NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly) SNV Uncertain significance 898905 GRCh37: 20:35532619-35532619
GRCh38: 20:36904216-36904216
24 SAMHD1 NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) SNV Uncertain significance 30605 rs138603088 GRCh37: 20:35559186-35559186
GRCh38: 20:36930783-36930783
25 SAMHD1 NM_015474.3(SAMHD1):c.1393C>A (p.Gln465Lys) SNV Likely benign 338343 rs142393072 GRCh37: 20:35533784-35533784
GRCh38: 20:36905381-36905381
26 SAMHD1 NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=) SNV Likely benign 738990 rs775726168 GRCh37: 20:35545194-35545194
GRCh38: 20:36916791-36916791
27 SAMHD1 NM_015474.3(SAMHD1):c.401G>A (p.Arg134Gln) SNV Likely benign 338347 rs767413799 GRCh37: 20:35563540-35563540
GRCh38: 20:36935137-36935137
28 SAMHD1 NM_015474.3(SAMHD1):c.334G>A (p.Val112Ile) SNV Likely benign 338348 rs144353824 GRCh37: 20:35569456-35569456
GRCh38: 20:36941053-36941053
29 SAMHD1 NM_015474.3(SAMHD1):c.697-11A>G SNV Likely benign 338346 rs200458478 GRCh37: 20:35547933-35547933
GRCh38: 20:36919530-36919530
30 SAMHD1 NM_015474.3(SAMHD1):c.-110T>C SNV Benign 338355 rs28372906 GRCh37: 20:35580156-35580156
GRCh38: 20:36951753-36951753
31 SAMHD1 , TLDC2 NM_080628.3(TLDC2):c.18-25A>G SNV Benign 338336 rs147220022 GRCh37: 20:35521240-35521240
GRCh38: 20:36892837-36892837
32 SAMHD1 NM_015474.3(SAMHD1):c.1692C>T (p.Ala564=) SNV Benign 338341 rs200856791 GRCh37: 20:35526279-35526279
GRCh38: 20:36897876-36897876
33 SAMHD1 NM_015474.3(SAMHD1):c.-31T>C SNV Benign 338353 rs142162198 GRCh37: 20:35580077-35580077
GRCh38: 20:36951674-36951674
34 SAMHD1 , TLDC2 NM_080628.3(TLDC2):c.18-218T>C SNV Benign 338334 rs114791229 GRCh37: 20:35521047-35521047
GRCh38: 20:36892644-36892644
35 SAMHD1 , TLDC2 NM_080628.3(TLDC2):c.18-170C>T SNV Benign 338335 rs143588093 GRCh37: 20:35521095-35521095
GRCh38: 20:36892692-36892692
36 SAMHD1 , TLDC2 NM_080628.3(TLDC2):c.18-1G>T SNV Benign 338337 rs138927042 GRCh37: 20:35521264-35521264
GRCh38: 20:36892861-36892861
37 SAMHD1 , TLDC2 NM_080628.3(TLDC2):c.18-938G>C SNV Benign 338328 rs116489517 GRCh37: 20:35520327-35520327
GRCh38: 20:36891924-36891924
38 SAMHD1 NM_015474.3(SAMHD1):c.-10A>G SNV Benign 338352 rs199721283 GRCh37: 20:35580056-35580056
GRCh38: 20:36951653-36951653
39 SAMHD1 NM_015474.3(SAMHD1):c.195G>T (p.Leu65=) SNV Benign 338349 rs202024857 GRCh37: 20:35579852-35579852
GRCh38: 20:36951449-36951449
40 SAMHD1 , TLDC2 NM_080628.3(TLDC2):c.*43G>A SNV Benign 338339 rs115645414 GRCh37: 20:35521290-35521290
GRCh38: 20:36892887-36892887
41 SAMHD1 NM_015474.3(SAMHD1):c.-166G>T SNV Benign 338356 rs546207604 GRCh37: 20:35580212-35580212
GRCh38: 20:36951809-36951809
42 SAMHD1 NM_015474.3(SAMHD1):c.1593G>C (p.Arg531Ser) SNV Benign 338342 rs145735112 GRCh37: 20:35526858-35526858
GRCh38: 20:36898455-36898455
43 SAMHD1 , TLDC2 NM_080628.3(TLDC2):c.*28T>C SNV Benign 338338 rs45595032 GRCh37: 20:35521275-35521275
GRCh38: 20:36892872-36892872
44 SAMHD1 NM_015474.3(SAMHD1):c.77C>T (p.Pro26Leu) SNV Benign 338350 rs147240777 GRCh37: 20:35579970-35579970
GRCh38: 20:36951567-36951567
45 SAMHD1 NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln) SNV Benign 895946 GRCh37: 20:35533852-35533852
GRCh38: 20:36905449-36905449
46 SAMHD1 NM_015474.3(SAMHD1):c.-39C>A SNV Benign 338354 rs368233437 GRCh37: 20:35580085-35580085
GRCh38: 20:36951682-36951682
47 SAMHD1 , TLDC2 NM_080628.3(TLDC2):c.18-559G>A SNV Benign 338330 rs8124728 GRCh37: 20:35520706-35520706
GRCh38: 20:36892303-36892303
48 SAMHD1 NM_015474.3(SAMHD1):c.1445G>A (p.Ser482Asn) SNV Benign 582618 rs373079404 GRCh37: 20:35532618-35532618
GRCh38: 20:36904215-36904215
49 SAMHD1 , TLDC2 NM_015474.4(SAMHD1):c.*120C>T SNV Benign 896157 GRCh37: 20:35521215-35521215
GRCh38: 20:36892812-36892812

UniProtKB/Swiss-Prot genetic disease variations for Chilblain Lupus 2:

72
# Symbol AA change Variation ID SNP ID
1 SAMHD1 p.Ile201Asn VAR_058485 rs138603088

Expression for Chilblain Lupus 2

Search GEO for disease gene expression data for Chilblain Lupus 2.

Pathways for Chilblain Lupus 2

GO Terms for Chilblain Lupus 2

Sources for Chilblain Lupus 2

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
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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
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71 UMLS via Orphanet
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