Chilblain lupus 1

Preferred Label : Chilblain lupus 1;

Symbol : CHBL1;

CISMeF acronym : CHBL1;

Type : Phenotype, molecular basis known;

Description : 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, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006). - Genetic Heterogeneity of Chilblain Lupus See also CHBL2 (614415), caused by mutation in the SAMHD1 gene (606754) on chromosome 20q11. Mutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, 225750 and AGS5, 612952, respectively).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the 3-prime repair exonuclease-1 gene (TREX1, 606609.0005);

Prefixed ID : #610448;

Détails

Origin ID

610448;

UMLS CUI

C0024145;

DO Cross reference
- Chilblain lupus [DO Concept]
Genes related to phenotype
- 3-prime repair exonuclease 1 [OMIM gene]
HPO term(s)
- Abnormality of the nail [HPO term]
- Antinuclear antibody positivity [HPO term]
- Arthralgia [HPO term]
- Autoamputation of digits [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chilblains [HPO term]
- Childhood onset [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Histological abnormality of the skin [HPO term]
- Infantile onset [HPO term]
- Raynaud phenomenon [HPO term]
- Skin ulcer [HPO term]
Not associated HPO term(s)
- Cutaneous photosensitivity [HPO term]
ORDO concept(s)
- Familial Chilblain lupus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chilblain lupus [ORDO Disease]
- Chilblain lupus [DO Concept]
- Chilblain lupus 1 [MeSH concept]
- Chilblain lupus 1 [MeSH Supplementary Concept]
- chilblain lupus erythematosus [SNOMED Notion]
- sarcoidosis, lupus pernio type [SNOMED Notion]
Validated automatic mappings to NTBT
- Chilblain lupus [DO Concept]
- Chilblain lupus [ORDO Disease]
- Chilblain lupus 1 [MeSH concept]
- Chilblain lupus 1 [MeSH Supplementary Concept]
- Chilblain lupus erythematosus (disorder) [SNOMED CT concept]
- Familial Chilblain lupus [ORDO Disease]

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