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amyloidosis, primary localized cutaneous, 3 (PLCA3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amyloidosis, primary localized cutaneous, 3

MONDO:0054765

Also known as:PLCA3amyloidosis cutis dyschromica

Overview

GeneticsAutosomal recessive · GPNMB (chr 7)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hypopigmented macule, Dry skin, and Generalized hyperpigmentation; and sometimes findings: Pruritus. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	4	Cutaneous photosensitivity, Dry skin, Generalized hyperpigmentation

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.

GPNMB encodes glycoprotein nmb (572 aa). Could be a melanogenic enzyme Highest expression in Cervix Ectocervix (316.2 TPM) and Skin Not Sun Exposed Suprapubic (299.5 TPM).

Amyloidosis, primary localized cutaneous, 3 is associated with mutations in the GPNMB gene on chromosome 7.

The GPNMB protein participates in PTK6 promotes HIF1A stabilization pathway.

GPNMB is classified as a druggable target (Druggable Genome and Enzyme categories) with score 26.1.

Diagnosis

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

Prognosis

Phenotype severity distribution: 3 always present features.

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, 3.

10 publications have been identified in PubMed for amyloidosis, primary localized cutaneous, 3. Research spans Case Report / Case Series (90%) and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Patient case studies	9	90%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617920

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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amyloidosis, primary localized cutaneous, 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

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