Chilblain lupus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 6 |
| OrphanetNr: | 90280 |
| OMIM Id: |
610448
614415 |
| ICD-10: |
L93.2 |
| UMLs: |
C0024145 |
| MeSH: |
C535924 |
| MedDRA: |
|
| Snomed: |
238928005 72470008 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
|
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Chronic cutaneous lupus erythematosus
-Rare skin disease Genetic skin vascular disease -Rare genetic disease Skin vascular disease -Rare skin disease |
Symptom Information:
|
|
(HPO:0002829) | Arthralgia | 79 / 7739 | ||||
|
|
(HPO:0001597) | Abnormality of the nail | rare [HPO] | 115 / 7739 | |||
|
|
(HPO:0200042) | Skin ulcer | 138 / 7739 | ||||
|
|
(HPO:0003493) | Antinuclear antibody positivity | rare [HPO:probinson] | 15 / 7739 | |||
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(HPO:0003621) | Juvenile onset | 105 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|