chilblain lupus 2
MONDO:0013739Mondo
Findings
No curated finding names chilblain lupus 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013739), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ChilblainsHPOHP:0009710
- 2 of 2 reported patients
- Papillary dermal edemaHPOHP:6000263
- 1 of 1 reported patient
- Cutaneous photosensitivityHPOHP:0000992
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SAMHD1HGNC:15925
- Limited · Ambry Genetics · Autosomal dominant · 2022
Where it sits
Other names
3 names
Resolves to: chilblain lupus 2
- Also called
- chilblain lupus caused by mutation in SAMHD1Chilblain lupus type 2SAMHD1 chilblain lupus