Angiokeratoma

Summary

Angiokeratoma (MONDO:0003143) is a disease and 2 clinical trials. A subtype of skin hemangioma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	angiokeratoma
Mondo ID	MONDO:0003143
MeSH	D000794
DOID	DOID:479
ICD-11	533651286
NCIT	C2874, C4488
SNOMED CT	254788004
UMLS	C0002985
MedGen	1542
Is cancer (heuristic)	no

Also known as: angiokeratoma (morphologic abnormality) · angiokeratoma of skin · angiokeratoma of the skin · cutaneous angiokeratoma · skin angiokeratoma

Disease family

This is a subtype of skin hemangioma. 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: human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › benign neoplasm › cardiovascular organ benign neoplasm › benign blood vessel neoplasm › hemangioma › skin hemangioma › angiokeratoma

Related subtypes (9): skin epithelioid hemangioma, cherry hemangioma, scrotal hemangioma, tufted angioma, verrucous hemangioma, Wyburn-Mason syndrome, Cobb syndrome, angioma serpiginosum, eyelid capillary hemangioma

Subtypes (3): angiokeratoma of mibelli, angiokeratoma circumscriptum, angiokeratoma of Fordyce

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: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07552077	PHASE2	RECRUITING	A Phase 2, Baseline-Controlled Study Evaluating the Safety and Efficacy of PTX-022 (Sirolimus) Topical Gel 3.9% in the Treatment of Angiokeratomas (LOTU)
NCT02778295	Not specified	WITHDRAWN	Biomarker for Patients With Fabry Disease (BioFabry)