Primary cutaneous amyloidosis

Summary

Primary cutaneous amyloidosis (MONDO:0015301) is a disease (an umbrella term covering 5 Mondo subtypes) and 3 clinical trials. Top therapeutic interventions include tofacitinib and stapokibart. A subtype of amyloidosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 100 000 (Taiwan, Province of China) [Orphanet-validated]
• Umbrella term: 5 Mondo subtypes
• Clinical trials: 3

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	9.8	Taiwan, Province of China	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	primary cutaneous amyloidosis
Mondo ID	MONDO:0015301
MeSH	C562642
Orphanet	137807
DOID	DOID:0050639
NCIT	C199391
SNOMED CT	282834007
UMLS	C0268397
MedGen	120635
GARD	0000132
MedDRA	10011659
Is cancer (heuristic)	no

Also known as: amyloidosis familial cutaneous lichen · amyloidosis IX · amyloidosis, primary localised cutaneous · familial primary localised cutaneous amyloidosis · familial primary localized cutaneous amyloidosis · lichen amyloidosis familial · PLCA · primary localised cutaneous amyloidosis · primary localized cutaneous amyloidosis

Data availability: 1 cell line.

Disease family

This is a subtype of amyloidosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › proteostasis deficiencies › amyloidosis › primary cutaneous amyloidosis

Related subtypes (11): wild type ATTR amyloidosis, ALECT2 amyloidosis, AApoAIV amyloidosis, ABeta2M amyloidosis, AH amyloidosis, hereditary amyloidosis, AL amyloidosis, AA amyloidosis, amyloidosis bronchopulmonary, soft tissue amyloid neoplasm, immunoglobulin heavy-and-light chain

Subtypes (5): familial primary localized cutaneous amyloidosis, nodular cutaneous amyloidosis, macular amyloidosis, amyloidosis cutis dyschromia, lichen amyloidosis

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06998875	PHASE4	RECRUITING	A Prospective Cohort Study on Primary Cutaneous Amyloidosis
NCT07143864	Not specified	NOT_YET_RECRUITING	Efficacy and Safety of Stapokibart for Primary Cutaneous Amyloidosis
NCT01164241	Not specified	COMPLETED	Natural History of Severe Allergic Inflammation and Reactions

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
TOFACITINIB	4	3
STAPOKIBART	3	1