CHILBLAIN LUPUS 1

General Information (adopted from Orphanet):

Synonyms, Signs: CHBL1
Number of Symptoms 9
OrphanetNr:
OMIM Id: 610448
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002829) Arthralgia 79 / 7739
2
(OMIM) No cutaneous photosensitivity 1 / 7739
3
(OMIM) Healed areas are atrophic and hypopigmented 1 / 7739
4
(OMIM) Subungual lesions (in some patients) 1 / 7739
5
(OMIM) Deep inflammatory perivascular infiltrate with granular deposits of immunoglobulins and complement along basement membrane 1 / 7739
6
(OMIM) Painful bluish-red papules or nodules (fingers, toes, nose, cheek, ears) 2 / 7739
7
(OMIM) Cutaneous ulcers 1 / 7739
8
(OMIM) Antinuclear antibody present (in some patients) 1 / 7739
9
(OMIM) No Raynaud phenomenon 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, ...
Clinical Description OMIM Chilblain lupus, a rare cutaneous form of systemic lupus erythematosus (152700), was first described by Jonathan Hutchinson (1888). Lee-Kirsch et al. (2006) described a large nonconsanguineous German family with 18 members over 5 generations affected with chilblain lupus. ...
Molecular genetics OMIM Rice et al. (2007) described a heterozygous mutation in the TREX1 gene (606609.0005) in affected members of a family with chilblain lupus.

In affected members of the large 5-generation German family with chilblain lupus previously described ...