CHBL2
MCID: CHL114
MIFTS: 19

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 57 75 29 13 6 73
Chbl2 57 75
Chilblain Lupus, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
chilblain lupus 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614415
MedGen 42 C3280721
MeSH 44 D008178
UMLS 73 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)

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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Chilblain Lupus 2:

32
# Description HPO Frequency HPO Source Accession
1 edema 32 HP:0000969
2 vasculitis 32 HP:0002633
3 cutaneous photosensitivity 32 HP:0000992

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

MalaCards organs/tissues related to Chilblain Lupus 2:

41
Skin, Bone

Publications for Chilblain Lupus 2

Variations for Chilblain Lupus 2

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

75
# 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

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 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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