CHBL2
MCID: CHL114
MIFTS: 20

Chilblain Lupus 2 (CHBL2)

Categories: Bone 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 58 76 30 13 6 74
Chbl2 58 76
Chilblain Lupus, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
chilblain lupus 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614415
MeSH 45 D008178
MedGen 43 C3280721
UMLS 74 C3280721

Summaries for Chilblain Lupus 2

OMIM : 58 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)

MalaCards based summary : Chilblain Lupus 2, is also known as chbl2. An important gene associated with Chilblain Lupus 2 is SAMHD1 (SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1). Affiliated tissues include skin and bone, and related phenotypes are edema and vasculitis

UniProtKB/Swiss-Prot : 76 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 at temperatures less than 10 degrees centigrade.

Related Diseases for Chilblain Lupus 2

Diseases in the Familial Chilblain Lupus family:

Chilblain Lupus 1 Chilblain Lupus 2

Symptoms & Phenotypes for Chilblain Lupus 2

Human phenotypes related to Chilblain Lupus 2:

33
# Description HPO Frequency HPO Source Accession
1 edema 33 HP:0000969
2 vasculitis 33 HP:0002633
3 cutaneous photosensitivity 33 HP:0000992

Symptoms via clinical synopsis from OMIM:

58
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

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 30 SAMHD1

Anatomical Context for Chilblain Lupus 2

MalaCards organs/tissues related to Chilblain Lupus 2:

42
Skin, Bone

Publications for Chilblain Lupus 2

Articles related to Chilblain Lupus 2:

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

Variations for Chilblain Lupus 2

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

76
# Symbol AA change Variation ID SNP ID
1 SAMHD1 p.Ile201Asn VAR_058485 rs138603088

ClinVar genetic disease variations for Chilblain Lupus 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SAMHD1 NM_015474.3(SAMHD1): c.602T> A (p.Ile201Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138603088 GRCh37 Chromosome 20, 35559186: 35559186
2 SAMHD1 NM_015474.3(SAMHD1): c.602T> A (p.Ile201Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138603088 GRCh38 Chromosome 20, 36930783: 36930783
3 SAMHD1 NM_015474.3(SAMHD1): c.1445G> A (p.Ser482Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 36904215: 36904215
4 SAMHD1 NM_015474.3(SAMHD1): c.1445G> A (p.Ser482Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 35532618: 35532618

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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