Hemangioma of subcutaneous tissue

Summary

Hemangioma of subcutaneous tissue (MONDO:0006557) is a disease with 5 GWAS associations across 4 studies. A subtype of integumentary system benign neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hemangioma of subcutaneous tissue
Mondo ID	MONDO:0006557
DOID	DOID:13081
NCIT	C8540
SNOMED CT	93473009
UMLS	C0685200
MedGen	146343
GARD	0024438
Anatomy (UBERON)	UBERON:0011818
Is cancer (heuristic)	no

Also known as: angioma of subcutaneous tissue · angioma of the subcutaneous tissue · hemangioma of subcutaneous tissue · hemangioma of superficial fascia · hemangioma of the subcutaneous tissue · subcutaneous angioma · subcutaneous hemangioma · subcutaneous tissue angioma · subcutaneous tissue hemangioma · superficial fascia hemangioma

Data availability: 5 GWAS associations (4 studies).

Disease family

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › integumentary system benign neoplasm › hemangioma of subcutaneous tissue

Related subtypes (7): Bartholin gland benign neoplasm, adiposis dolorosa, multiple symmetric lipomatosis, familial multiple lipomatosis, intraductal breast papilloma, adenoma of nipple, benign neoplasm of skin

Genetics & variants

GWAS landscape

5 GWAS associations across 4 studies. Top hits map to 3 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs12678465	6e-14	PCAT1	G	0.14
rs10420473	3e-11	ZNF439	C	1.93
rs186995769	4e-11	CTNNA2	T	2.18
rs148657714	3e-08	Y_RNA - POMP	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475633	Verma A	2024	6,342	429,630	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479857	Verma A	2024	281	58,651	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481563	Verma A	2024	281	58,651	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651624	Liu TY	2025	198	235,668	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	4

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	2
unknown	1

Functional consequences

Consequence	Count
intron_variant	4

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs12678465	8	126990627	G>A,T	0.393	intron_variant	PCAT1	6e-14	Tier 4: intronic/intergenic
rs10420473	19	11858427	C>T	0.001	intron_variant	ZNF439	3e-11	Tier 4: intronic/intergenic
rs186995769	2	80310479	T>C	0	intron_variant	CTNNA2	4e-11	Tier 4: intronic/intergenic
rs148657714	13	28631947	C>G		intron_variant	Y_RNA - POMP	3e-08	Tier 4: intronic/intergenic

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: 0.