Idiopathic cardiomyopathy

Summary

Idiopathic cardiomyopathy (MONDO:0005110) is a disease with 2 cohort genes and 3 clinical trials.

At a glance

• Cohort genes: 2
• ClinVar variants: 2
• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	idiopathic cardiomyopathy
Mondo ID	MONDO:0005110
EFO	EFO:0000767
NCIT	C53654
UMLS	C0033141
MedGen	18634
GARD	0024149
Is cancer (heuristic)	no

Data availability: 2 ClinVar variants.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › cardiomyopathy › idiopathic cardiomyopathy

Related subtypes (11): Keshan disease, intrinsic cardiomyopathy, extrinsic cardiomyopathy, familial cardiomyopathy, non-compaction cardiomyopathy, Chagas cardiomyopathy, Uhl anomaly, Tako-tsubo cardiomyopathy, cardiomyopathy due to anthracyclines, doxorubicin induced cardiomyopathy, autoimmune cardiomyopathy

Subtypes (2): idiopathic hypereosinophilic syndrome, idiopathic giant cell myocarditis

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

2 retrieved; paginated sample, class counts are floors:

1 uncertain significance, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
3062228	NM_032588.4(TRIM63):c.277C>T (p.Gln93Ter)	TRIM63	Pathogenic	criteria provided, single submitter
3062028	NM_003275.4(TMOD1):c.565C>T (p.Arg189Trp)	TMOD1	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TMOD1	HGNC:11871	ENSG00000136842	P28289	Tropomodulin-1	clinvar
TRIM63	HGNC:16007	ENSG00000158022	Q969Q1	E3 ubiquitin-protein ligase TRIM63	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TMOD1	Tropomodulin-1	Blocks the elongation and depolymerization of the actin filaments at the pointed end.
TRIM63	E3 ubiquitin-protein ligase TRIM63	E3 ubiquitin ligase.

Protein-family classification

Druggable: 0 · Difficult: 1 · 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
Transcription factor	1	4.1×	0.455
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TMOD1	Other/Unknown	no		TMOD, LRR_dom_sf
TRIM63	Transcription factor	no		Znf_B-box, Znf_RING, Znf_RING/FYVE/PHD

Expression context

Cohort genes with no expression data: 0.

2 cohort genes 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
hindlimb stylopod muscle	2
islet of Langerhans	1
type B pancreatic cell	1
gastrocnemius	1
tibialis anterior	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TMOD1	265	broad	marker	type B pancreatic cell, hindlimb stylopod muscle, islet of Langerhans
TRIM63	169	tissue_specific	marker	gastrocnemius, tibialis anterior, hindlimb stylopod muscle

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TRIM63	2,649
TMOD1	1,535

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TMOD1	P28289	6
TRIM63	Q969Q1	3

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes	1	190.3×	0.010	TRIM63
Striated Muscle Contraction	1	154.3×	0.010	TMOD1
Antigen processing: Ubiquitination & Proteasome degradation	1	18.6×	0.053	TRIM63

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
muscle contraction	2	208.1×	3e-04	TMOD1, TRIM63
response to electrical stimulus involved in regulation of muscle adaptation	1	4213.0×	0.002	TRIM63
skeletal muscle atrophy	1	1685.2×	0.003	TRIM63
pointed-end actin filament capping	1	1203.7×	0.003	TMOD1
lens fiber cell development	1	1053.2×	0.003	TMOD1
negative regulation of cardiac muscle hypertrophy	1	561.7×	0.004	TRIM63
myofibril assembly	1	561.7×	0.004	TMOD1
negative regulation of glycolytic process	1	526.6×	0.004	TRIM63
response to interleukin-1	1	255.3×	0.007	TRIM63
response to glucocorticoid	1	162.0×	0.009	TRIM63
adult locomotory behavior	1	150.5×	0.009	TMOD1
actin filament organization	1	59.3×	0.021	TMOD1
protein ubiquitination	1	20.7×	0.055	TRIM63
innate immune response	1	16.8×	0.063	TRIM63
signal transduction	1	8.0×	0.121	TRIM63

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 0 of 2 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
TMOD1	0	0
TRIM63	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; 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	2	TMOD1, TRIM63

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
TMOD1	0	—
TRIM63	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00722748	Not specified	ACTIVE_NOT_RECRUITING	Genomic Investigation of Cardiovascular Diseases
NCT06920030	Not specified	RECRUITING	Performance of the Cardiac Microcurrent (C-MIC) System With a Less Invasively Placed Left Ventricular Lead
NCT07336394	Not specified	RECRUITING	Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques