amyloidosis, primary localized cutaneous, 3
MONDO:0054765Mondo
Findings
No curated finding names amyloidosis, primary localized cutaneous, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- Dry skinHPOHP:0000958
- 9 of 9 reported patients
- Generalized hyperpigmentationHPOHP:0007440
- 9 of 9 reported patients
- Hypopigmented maculeHPOHP:0020073
- 9 of 9 reported patients
- PruritusHPOHP:0000989
- 2 of 9 reported patients
- Cutaneous photosensitivityHPOHP:0000992
- 0 of 9 reported patients
- Hypermelanotic maculeHPOHP:0001034
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.
- GPNMBHGNC:4462
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018