Cardiac rhabdomyoma

Summary

Cardiac rhabdomyoma (MONDO:0006123) is a disease with 1 cohort gene and 1 clinical trial.

At a glance

• Cohort genes: 1
• ClinVar variants: 1
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cardiac rhabdomyoma
Mondo ID	MONDO:0006123
EFO	EFO:1000150
NCIT	C6739
UMLS	C1332852
MedGen	232027
GARD	0027742
Anatomy (UBERON)	UBERON:0000948
Is cancer (heuristic)	no

Also known as: cardiac rhabdomyoma · cardiac rhabdomyoma (disease) · heart rhabdomyoma · rhabdomyoma of heart · rhabdomyoma of the heart

Data availability: 1 ClinVar variant · 1 HPO phenotype.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › benign neoplasm › cardiovascular organ benign neoplasm › benign neoplasm of heart › cardiac rhabdomyoma

Related subtypes (4): heart lipoma, benign neoplasm of endocardium, benign neoplasm of epicardium, benign neoplasm of myocardium

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 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
48943	NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)	TSC1	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TSC1	Orphanet:210159	Adult hepatocellular carcinoma
TSC1	Orphanet:269008	Isolated focal cortical dysplasia type IIb
TSC1	Orphanet:538	Lymphangioleiomyomatosis
TSC1	Orphanet:805	Tuberous sclerosis complex

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
TSC1	HGNC:12362	ENSG00000165699	Q92574	Hamartin	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TSC1	Hamartin	Non-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 macromolec…

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)
TSC1	Other/Unknown	no		Hamartin

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
gluteal muscle	1
lateral globus pallidus	1
substantia nigra pars compacta	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TSC1	297	ubiquitous	marker	substantia nigra pars compacta, gluteal muscle, lateral globus pallidus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TSC1	5,445

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TSC1	Q92574	5

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 5. 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×	0.002	TSC1
Energy dependent regulation of mTOR by LKB1-AMPK	1	393.8×	0.006	TSC1
TBC/RABGAPs	1	259.6×	0.006	TSC1
TP53 Regulates Metabolic Genes	1	129.8×	0.009	TSC1
Macroautophagy	1	115.3×	0.009	TSC1

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
memory T cell differentiation	1	5617.3×	0.004	TSC1
cellular response to decreased oxygen levels	1	4213.0×	0.004	TSC1
negative regulation of ATP-dependent activity	1	1685.2×	0.004	TSC1
negative regulation of cell size	1	1685.2×	0.004	TSC1
regulation of cell-matrix adhesion	1	1296.3×	0.004	TSC1
negative regulation of macroautophagy	1	1123.5×	0.004	TSC1
regulation of stress fiber assembly	1	991.3×	0.004	TSC1
obsolete D-glucose import	1	842.6×	0.004	TSC1
activation of GTPase activity	1	732.7×	0.004	TSC1
cardiac muscle cell differentiation	1	674.1×	0.004	TSC1
positive regulation of focal adhesion assembly	1	648.1×	0.004	TSC1
negative regulation of TOR signaling	1	561.7×	0.005	TSC1
associative learning	1	481.5×	0.005	TSC1
cell projection organization	1	374.5×	0.006	TSC1
negative regulation of TORC1 signaling	1	324.1×	0.006	TSC1
adult locomotory behavior	1	300.9×	0.006	TSC1
synapse organization	1	280.9×	0.006	TSC1
myelination	1	251.5×	0.007	TSC1
hippocampus development	1	230.8×	0.007	TSC1
response to insulin	1	230.8×	0.007	TSC1
cerebral cortex development	1	205.5×	0.007	TSC1
cellular response to starvation	1	193.7×	0.007	TSC1
potassium ion transport	1	191.5×	0.007	TSC1
neural tube closure	1	187.2×	0.007	TSC1
cell-matrix adhesion	1	163.6×	0.008	TSC1
kidney development	1	140.4×	0.008	TSC1
cell population proliferation	1	102.8×	0.011	TSC1
adaptive immune response	1	84.3×	0.013	TSC1
regulation of cell cycle	1	74.6×	0.014	TSC1
protein stabilization	1	66.9×	0.015	TSC1

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TSC1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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	TSC1

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)
TSC1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02654340	Not specified	TERMINATED	Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)