Chilblain lupus 2

Preferred Label : Chilblain lupus 2;

Symbol : CHBL2;

CISMeF acronym : CHBL2;

Type : Phenotype, molecular basis known;

Description : 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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SAM domain- and HD domain-containing protein 1 gene (SAMHD1, 606754.0011);

Prefixed ID : #614415;

Details

Origin ID

614415;

UMLS CUI

C3280721;

DO Cross reference
- Chilblain lupus [DO Concept]
Genes related to phenotype
- Sam domain- and hd domain-containing protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cutaneous photosensitivity [HPO term]
- Edema [HPO term]
- Vasculitis [HPO term]
ORDO concept(s)
- Familial Chilblain lupus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients