amyloidosis, primary localized cutaneous, 1
Findings
No curated finding names amyloidosis, primary localized cutaneous, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene.
Definition from the Mondo Disease Ontology (MONDO:0024522), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
2 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.
- Cutaneous amyloidosisHPOHP:0012309
- 16 of 16 reported patients
- LichenificationHPOHP:0100725
- 16 of 16 reported patients · Childhood onset
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.
- OSMRHGNC:8507
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Semidominant · 2018
Where it sits
Other names
7 names
Resolves to: amyloidosis, primary localized cutaneous, 1
- Also called
- amyloidosis 9amyloidosis, primary cutaneous, 1amyloidosis, primary localised cutaneous, type 1amyloidosis, primary localized cutaneous, type 1OSMR primary cutaneous amyloidosisPLCA1primary cutaneous amyloidosis caused by mutation in OSMR