CHILBLAIN LUPUS 2

General Information (adopted from Orphanet):

Synonyms, Signs: CHBL2
Number of Symptoms 8
OrphanetNr:
OMIM Id: 614415
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011123) Inflammatory abnormality of the skin 10 / 7739
2
(HPO:0000992) Cutaneous photosensitivity 75 / 7739
3
(OMIM) Angiomatous lesions on the fingers, persistent 1 / 7739
4
(OMIM) Painful bluish-red papules or nodules (fingers, toes, nose, cheek, ears) 2 / 7739
5
(OMIM) Lymphocytic vasculitis 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Papillary dermal edema 1 / 7739
8
(OMIM) Keratinocyte necrosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM Ravenscroft et al. (2011) reported a mother and son with chilblain lupus. From the age of 4 years, the 46-year-old white mother experienced recurrent lesions, particularly prominent over the winter months, affecting her hands, feet, buttocks, and thighs. ...
Molecular genetics OMIM In a mother and son with chilblain lupus, Ravenscroft et al. (2011) identified a heterozygous mutation in the SAMHD1 gene (I201N; 606754.0011).