Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

amyloidosis, primary localized cutaneous, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amyloidosis, primary localized cutaneous, 2

MONDO:0013502

Also known as:amyloidosis, primary localised cutaneous, type 2amyloidosis, primary localized cutaneous, type 2PLCA2

Overview

GeneticsAutosomal dominant · IL31RA (chr 5)

Clinical Presentation

Features include: Cutaneous amyloidosis and Pruritus.

Organ System	Phenotype Count	Example Features
Skin	1	Pruritus

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IL31RA encodes interleukin 31 receptor A (732 aa). Associates with OSMR to form the interleukin-31 receptor which activates STAT3 and to a lower extent STAT1 and STAT5. May function in skin immunity. Highest expression in Artery Aorta (1.9 TPM) and Testis (1.8 TPM).

Amyloidosis, primary localized cutaneous, 2 is associated with mutations in the IL31RA gene on chromosome 5.

The IL31RA protein participates in Interleukin-6 family signaling pathway.

IL31RA is classified as a druggable target (Druggable Genome and External Side Of Plasma Membrane categories) with score 26.1.

Diagnosis

Genetic testing for IL31RA is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for amyloidosis, primary localized cutaneous, 2.

10 publications have been identified in PubMed for amyloidosis, primary localized cutaneous, 2. Research spans Case Report / Case Series (50%), Other (20%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Patient case studies	5	50%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613955

GARD

Genetic and Rare Diseases Info Center

GARD:18638

Questions for Your Care Team

→Should I pursue genetic testing for IL31RA, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

amyloidosis, primary localized cutaneous, 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Mechanistic Insights Into OSM and IL-31 in Primary Localized Cutaneous Amyloidosis: A Narrative Review.

amyloidosis, primary localized cutaneous, 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Mechanistic Insights Into OSM and IL-31 in Primary Localized Cutaneous Amyloidosis: A Narrative Review.