Familial Chilblain lupus
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial Chilblain lupus | |
| fr | Lupus érythémateux familial type Chilblain | |
| de | Chilblain-Lupus, familiärer | |
| es | Lupus pernio familiar | |
| it | Lupus familiare da geloni | |
| nl | Familiale Chilblain lupus | |
| pt | Lupus eritematoso familiar tipo Chiblain | |
| pl | Rodzinny toczeń odmrozinowy | |
| cs | Familiární omrzlinový lupus | |
| uk | Сімейний холодовий вовчак | |
| zh | 家族性雪白狼疮 | |
| tr | Ailesel Chilblain Lupus |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610448 | BTNT | validated | |
| OMIM | 614415 | BTNT | validated | |
| ICD-10 | L93.2 | NTBT | attributed | validated |
| ICD-11 | EB51.Y | NTBT | attributed | validated |
| MONDO | 0018827 | E | validated | |
| UMLS | C5688224 | E | validated | |
| MedDRA | 10090201 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:163531Chronic cutaneous lupus erythematosus
rare skin diseases - ORPHA:183478Genetic skin vascular disorder
rare genetic diseases - ORPHA:477771Rare disorder with a moyamoya angiopathy
rare genetic diseases; rare neurological diseases - ORPHA:79379Skin vascular disease
rare skin diseases - ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases - ORPHA:477647Type 1 interferonopathy
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:481671Type 1 interferonopathy of childhood
rare systemic or rheumatologic diseases of childhood
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STING1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:27962 | ENSG00000184584 | 612374 | 5q31.2 | stimulator of interferon response cGAMP interactor 1 | 27566796[PMID] |
| SAMHD1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15925 | ENSG00000101347 | 606754 | 20q11.23 | SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | 27566796[PMID] |
| TREX1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12269 | ENSG00000213689 | 606609 | 3p21.31 | three prime repair exonuclease 1 | 27566796[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | 27566796[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27566796[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/481662
- This record as JSON: /data/d/481662.json