Rhabdomyoma

Summary

Rhabdomyoma (MONDO:0036688) 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	rhabdomyoma
Mondo ID	MONDO:0036688
MeSH	D012207
ICD-11	1253205675
NCIT	C3358
SNOMED CT	402877008
UMLS	C0035411
MedGen	48445
Is cancer (heuristic)	no

Also known as: rhabdomyoma · rhabdomyoma, benign · Rhabdomyomatous neoplasm

Data availability: 1 ClinVar variant.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › musculoskeletal system benign neoplasm › benign muscle neoplasm › rhabdomyoma

Related subtypes (1): benign smooth muscle neoplasm

Subtypes (1): cardiac rhabdomyoma

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 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
661062	NM_000548.5(TSC2):c.1946+3A>C	TSC2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 6 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TSC2	Orphanet:210159	Adult hepatocellular carcinoma
TSC2	Orphanet:269001	Isolated focal cortical dysplasia type IIa
TSC2	Orphanet:269008	Isolated focal cortical dysplasia type IIb
TSC2	Orphanet:538	Lymphangioleiomyomatosis
TSC2	Orphanet:805	Tuberous sclerosis complex
TSC2	Orphanet:88924	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

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
TSC2	HGNC:12363	ENSG00000103197	P49815	Tuberin	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TSC2	Tuberin	Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule…

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TSC2	Other/Unknown	no		Rap/Ran_GAP_dom, Tuberin, ARM-like

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
cerebellar cortex	1
cerebellar hemisphere	1
right hemisphere of cerebellum	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TSC2	282	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TSC2	4,135

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TSC2	P49815	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 7. 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
Inhibition of TSC complex formation by AKT (PKB)	1	2284.0×	0.003	TSC2
AKT phosphorylates targets in the cytosol	1	815.7×	0.004	TSC2
Constitutive Signaling by AKT1 E17K in Cancer	1	423.0×	0.004	TSC2
Energy dependent regulation of mTOR by LKB1-AMPK	1	393.8×	0.004	TSC2
TBC/RABGAPs	1	259.6×	0.005	TSC2
TP53 Regulates Metabolic Genes	1	129.8×	0.009	TSC2
Macroautophagy	1	115.3×	0.009	TSC2

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
regulation of insulin receptor signaling pathway	1	1685.2×	0.005	TSC2
negative regulation of mitophagy	1	1532.0×	0.005	TSC2
anoikis	1	1296.3×	0.005	TSC2
positive chemotaxis	1	802.5×	0.006	TSC2
negative regulation of TOR signaling	1	561.7×	0.006	TSC2
positive regulation of macroautophagy	1	526.6×	0.006	TSC2
regulation of endocytosis	1	481.5×	0.006	TSC2
negative regulation of insulin receptor signaling pathway	1	374.5×	0.006	TSC2
negative regulation of Wnt signaling pathway	1	343.9×	0.006	TSC2
negative regulation of TORC1 signaling	1	324.1×	0.006	TSC2
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	1	263.3×	0.007	TSC2
cellular response to starvation	1	193.7×	0.009	TSC2
neural tube closure	1	187.2×	0.009	TSC2
protein import into nucleus	1	144.0×	0.010	TSC2
regulation of small GTPase mediated signal transduction	1	144.0×	0.010	TSC2
intracellular protein localization	1	104.7×	0.012	TSC2
vesicle-mediated transport	1	96.3×	0.012	TSC2
endocytosis	1	95.2×	0.012	TSC2
heart development	1	78.8×	0.014	TSC2
regulation of cell cycle	1	74.6×	0.014	TSC2
negative regulation of cell population proliferation	1	42.1×	0.024	TSC2

Therapeutics

Drug target analysis

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

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

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TSC2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
TSC2	1	Binding:1

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

0 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.

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
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	1	TSC2

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
TSC2	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.