Intramuscular hemangioma

Summary

Intramuscular hemangioma (MONDO:0003088) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	intramuscular hemangioma
Mondo ID	MONDO:0003088
DOID	DOID:468
NCIT	C3699
UMLS	C0205789
MedGen	61450
Is cancer (heuristic)	no

Also known as: intramuscular angioma · intramuscular hemangioma (morphologic abnormality)

Data availability: 1 ClinVar variant.

Disease family

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 › deep hemangioma › intramuscular hemangioma

Related subtypes (1): perineural angioma

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

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
4279978	NM_005343.4(HRAS):c.174_179delinsATCTGGATACAT (p.Ala59_Gly60delinsSerGlyTyrIle)	HRAS	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 5 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
HRAS	Orphanet:146	Differentiated thyroid carcinoma
HRAS	Orphanet:2612	Linear nevus sebaceus syndrome
HRAS	Orphanet:2874	Phakomatosis pigmentokeratotica
HRAS	Orphanet:3071	Costello syndrome
HRAS	Orphanet:79414	Woolly hair nevus

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
HRAS	HGNC:5173	ENSG00000174775	P01112	GTPase HRas	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
HRAS	GTPase HRas	Involved in the activation of Ras protein signal transduction.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Enzyme (other)	1	12.0×	0.083

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
HRAS	Enzyme (other)	yes	3.6.5.2	Small_GTPase, Small_GTP-bd, Small_GTPase_Ras-type

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
skin of abdomen	1
skin of leg	1
zone of skin	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
HRAS	139	ubiquitous	marker	skin of abdomen, skin of leg, zone of skin

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
HRAS	8,064

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
HRAS	P01112	246

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 68. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Signaling by RAS GAP mutants	1	3806.7×	0.003	HRAS
Signaling by RAS GTPase mutants	1	3806.7×	0.003	HRAS
Activation of RAS in B cells	1	2284.0×	0.003	HRAS
RAS signaling downstream of NF1 loss-of-function variants	1	1631.4×	0.003	HRAS
Estrogen-stimulated signaling through PRKCZ	1	1631.4×	0.003	HRAS
SOS-mediated signalling	1	1427.5×	0.003	HRAS
Activated NTRK3 signals through RAS	1	1268.9×	0.003	HRAS
EGFR Transactivation by Gastrin	1	1142.0×	0.003	HRAS
SHC-related events triggered by IGF1R	1	1142.0×	0.003	HRAS
Activated NTRK2 signals through RAS	1	1142.0×	0.003	HRAS
MET activates RAS signaling	1	1038.2×	0.003	HRAS
Signaling by FGFR4 in disease	1	951.7×	0.003	HRAS
Activated NTRK2 signals through FRS2 and FRS3	1	951.7×	0.003	HRAS
Constitutive Signaling by Overexpressed ERBB2	1	951.7×	0.003	HRAS
p38MAPK events	1	878.5×	0.003	HRAS
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants	1	878.5×	0.003	HRAS
Signaling by PDGFRA extracellular domain mutants	1	878.5×	0.003	HRAS
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases	1	815.7×	0.003	HRAS
GRB2 events in EGFR signaling	1	761.3×	0.003	HRAS
Erythropoietin activates RAS	1	761.3×	0.003	HRAS
Signaling by FLT3 ITD and TKD mutants	1	761.3×	0.003	HRAS
SHC1 events in ERBB4 signaling	1	713.8×	0.003	HRAS
SHC1 events in EGFR signaling	1	713.8×	0.003	HRAS
Constitutive Signaling by EGFRvIII	1	713.8×	0.003	HRAS
Signalling to RAS	1	671.8×	0.003	HRAS
Insulin receptor signalling cascade	1	671.8×	0.003	HRAS
Signaling by ERBB2 ECD mutants	1	671.8×	0.003	HRAS
GRB2 events in ERBB2 signaling	1	634.4×	0.003	HRAS
Tie2 Signaling	1	601.0×	0.003	HRAS
SHC-mediated cascade:FGFR3	1	601.0×	0.003	HRAS

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
positive regulation of miRNA metabolic process	1	5617.3×	0.007	HRAS
oncogene-induced cell senescence	1	2407.4×	0.007	HRAS
T-helper 1 type immune response	1	1872.4×	0.007	HRAS
Schwann cell development	1	1053.2×	0.007	HRAS
regulation of long-term neuronal synaptic plasticity	1	991.3×	0.007	HRAS
positive regulation of ruffle assembly	1	991.3×	0.007	HRAS
regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	1	887.0×	0.007	HRAS
defense response to protozoan	1	601.9×	0.007	HRAS
cellular response to gamma radiation	1	601.9×	0.007	HRAS
positive regulation of protein targeting to membrane	1	561.7×	0.007	HRAS
positive regulation of wound healing	1	526.6×	0.007	HRAS
adipose tissue development	1	401.2×	0.008	HRAS
fibroblast proliferation	1	391.9×	0.008	HRAS
intrinsic apoptotic signaling pathway	1	358.6×	0.008	HRAS
positive regulation of fibroblast proliferation	1	295.6×	0.009	HRAS
cellular senescence	1	295.6×	0.009	HRAS
myelination	1	251.5×	0.009	HRAS
positive regulation of epithelial cell proliferation	1	244.2×	0.009	HRAS
positive regulation of type II interferon production	1	224.7×	0.009	HRAS
insulin receptor signaling pathway	1	221.7×	0.009	HRAS
Ras protein signal transduction	1	205.5×	0.010	HRAS
animal organ morphogenesis	1	191.5×	0.010	HRAS
neuron apoptotic process	1	185.2×	0.010	HRAS
positive regulation of JNK cascade	1	163.6×	0.010	HRAS
regulation of actin cytoskeleton organization	1	157.5×	0.010	HRAS
MAPK cascade	1	153.2×	0.010	HRAS
T cell receptor signaling pathway	1	151.8×	0.010	HRAS
chemotaxis	1	135.9×	0.011	HRAS
regulation of cell population proliferation	1	115.4×	0.013	HRAS
negative regulation of neuron apoptotic process	1	110.9×	0.013	HRAS

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
HRAS	LONAFARNIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
HRAS	4	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
LONAFARNIB	4	HRAS
STALLIMYCIN	2	HRAS
L-778123 FREE BASE	1	HRAS
BMS-214662	1	HRAS

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
HRAS	48	Binding:45, Functional:3

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
HRAS	3.6.5.2	small monomeric GTPase

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

4 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
LONAFARNIB	4	HRAS
STALLIMYCIN	2	HRAS
L-778123 FREE BASE	1	HRAS
BMS-214662	1	HRAS

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	HRAS
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 0.