dilated cardiomyopathy 1EE
diseaseOn this page
Also known as cardiomyopathy, dilated, 1EEcardiomyopathy, dilated, type 1EeCMD1EEdilated cardiomyopathy type 1EEfamilial isolated dilated cardiomyopathy caused by mutation in MYH6MYH6 familial isolated dilated cardiomyopathy
Summary
dilated cardiomyopathy 1EE (MONDO:0013198) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 271
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | dilated cardiomyopathy 1EE |
| Mondo ID | MONDO:0013198 |
| MeSH | C567683 |
| OMIM | 613252 |
| DOID | DOID:0110453 |
| UMLS | C2750466 |
| MedGen | 412965 |
| GARD | 0015639 |
| Is cancer (heuristic) | no |
Also known as: cardiomyopathy, dilated, 1EE · cardiomyopathy, dilated, type 1Ee · CMD1EE · dilated cardiomyopathy type 1EE · familial isolated dilated cardiomyopathy caused by mutation in MYH6 · MYH6 familial isolated dilated cardiomyopathy
Data availability: 271 ClinVar variants.
Disease family
Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › cardiomyopathy › intrinsic cardiomyopathy › dilated cardiomyopathy › familial dilated cardiomyopathy › familial isolated dilated cardiomyopathy › dilated cardiomyopathy 1EE
Related subtypes (44): dilated cardiomyopathy 1A, dilated cardiomyopathy 3B, dilated cardiomyopathy 1B, dilated cardiomyopathy 1E, dilated cardiomyopathy 1C, dilated cardiomyopathy 1D, dilated cardiomyopathy 1G, dilated cardiomyopathy 1H, dilated cardiomyopathy 1I, dilated cardiomyopathy 1K, dilated cardiomyopathy 1L, dilated cardiomyopathy 1M, dilated cardiomyopathy 1O, dilated cardiomyopathy 1P, dilated cardiomyopathy 1Q, dilated cardiomyopathy 1W, dilated cardiomyopathy 1X, dilated cardiomyopathy 1Y, dilated cardiomyopathy 1Z, dilated cardiomyopathy 2A, dilated cardiomyopathy 1AA, dilated cardiomyopathy 1BB, dilated cardiomyopathy 1CC, dilated cardiomyopathy 1DD, dilated cardiomyopathy 1FF, dilated cardiomyopathy 1R, dilated cardiomyopathy 1S, dilated cardiomyopathy 1GG, dilated cardiomyopathy 1U, dilated cardiomyopathy 1V, dilated cardiomyopathy 1HH, dilated cardiomyopathy 2B, dilated cardiomyopathy 1II, dilated cardiomyopathy 1JJ, dilated cardiomyopathy 1KK, left ventricular noncompaction 8, left ventricular noncompaction 10, dilated cardiomyopathy 1NN, cardiomyopathy, dilated, 2D, cardiomyopathy, dilated, 2E, cardiomyopathy, dilated, 2F, cardiomyopathy, dilated, 2G, cardiomyopathy, dilated, 2c, cardiomyopathy, dilated, 2H
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
271 retrieved; paginated sample, class counts are floors:
201 uncertain significance, 26 conflicting classifications of pathogenicity, 19 benign/likely benign, 18 likely benign, 5 benign, 1 pathogenic, 1 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 14150 | NM_002471.4(MYH6):c.2489C>T (p.Pro830Leu) | MYH6 | Pathogenic | no assertion criteria provided |
| 3366965 | NM_002471.4(MYH6):c.5164-2A>G | MYH6 | Likely pathogenic | criteria provided, single submitter |
| 1447754 | NM_002471.4(MYH6):c.616AAG[1] (p.Lys207del) | LOC114827851 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 191724 | NM_002471.4(MYH6):c.115G>A (p.Val39Met) | LOC114827851 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 44474 | NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) | LOC114827851 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 407143 | NM_002471.4(MYH6):c.4991G>A (p.Arg1664His) | LOC126861896 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1284635 | NM_002471.4(MYH6):c.2717G>A (p.Arg906His) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 14151 | NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1432256 | NM_002471.4(MYH6):c.409G>A (p.Glu137Lys) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 164230 | NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 179023 | NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1802218 | NM_002471.4(MYH6):c.5286G>A (p.Thr1762=) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 180424 | NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 191717 | NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 191718 | NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 228886 | NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 239163 | NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 264214 | NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 264374 | NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 312860 | NM_002471.4(MYH6):c.3604G>A (p.Val1202Met) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 373555 | NM_002471.4(MYH6):c.5077G>A (p.Val1693Met) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 44513 | NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 44533 | NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 520324 | NM_002471.4(MYH6):c.2929-3C>T | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 565499 | NM_002471.4(MYH6):c.3618C>T (p.Gly1206=) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 656980 | NM_002471.4(MYH6):c.2189T>C (p.Val730Ala) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 800244 | NM_002471.4(MYH6):c.1486G>A (p.Val496Met) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 860657 | NM_002471.4(MYH6):c.3447C>T (p.Ser1149=) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1023317 | NM_002471.4(MYH6):c.268A>G (p.Met90Val) | LOC114827851 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1371522 | NM_002471.4(MYH6):c.244C>T (p.Pro82Ser) | LOC114827851 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| MYH6 | Orphanet:154 | Familial isolated dilated cardiomyopathy |
| MYH6 | Orphanet:166282 | Hereditary sick sinus syndrome |
| MYH6 | Orphanet:99103 | Atrial septal defect, ostium secundum type |
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 |
|---|---|---|---|---|---|
| MYH6 | HGNC:7576 | ENSG00000197616 | P13533 | Myosin-6 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| MYH6 | Myosin-6 | Muscle contraction. |
Protein-family classification
Druggable: 0 · Difficult: 1 · Unknown: 0 · 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 |
|---|---|---|---|
| Scaffold/PPI | 1 | 17.3× | 0.058 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| MYH6 | Scaffold/PPI | no | Myosin_head_motor_dom-like, Myosin_tail, SH3_Myosin |
Expression context
Cohort genes with no expression data: 0.
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 |
|---|---|
| cardiac atrium | 1 |
| cardiac muscle of right atrium | 1 |
| vena cava | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| MYH6 | 154 | tissue_specific | yes | cardiac muscle of right atrium, cardiac atrium, vena cava |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MYH6 | 3,119 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| MYH6 | P13533 | 74.91 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 2. 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 |
|---|---|---|---|---|
| Striated Muscle Contraction | 1 | 308.6× | 0.006 | MYH6 |
| Muscle contraction | 1 | 77.2× | 0.013 | MYH6 |
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 |
|---|---|---|---|---|
| visceral muscle development | 1 | 16852.0× | 0.001 | MYH6 |
| regulation of heart growth | 1 | 8426.0× | 0.001 | MYH6 |
| atrial cardiac muscle tissue morphogenesis | 1 | 2407.4× | 0.002 | MYH6 |
| adult heart development | 1 | 1203.7× | 0.002 | MYH6 |
| myofibril assembly | 1 | 1123.5× | 0.002 | MYH6 |
| cardiac muscle hypertrophy in response to stress | 1 | 1053.2× | 0.002 | MYH6 |
| muscle filament sliding | 1 | 1053.2× | 0.002 | MYH6 |
| regulation of the force of heart contraction | 1 | 991.3× | 0.002 | MYH6 |
| striated muscle contraction | 1 | 842.6× | 0.003 | MYH6 |
| ventricular cardiac muscle tissue morphogenesis | 1 | 702.2× | 0.003 | MYH6 |
| cardiac muscle cell development | 1 | 624.1× | 0.003 | MYH6 |
| regulation of heart contraction | 1 | 495.6× | 0.003 | MYH6 |
| regulation of heart rate | 1 | 468.1× | 0.003 | MYH6 |
| ATP metabolic process | 1 | 468.1× | 0.003 | MYH6 |
| cardiac muscle contraction | 1 | 401.2× | 0.003 | MYH6 |
| sarcomere organization | 1 | 383.0× | 0.003 | MYH6 |
| regulation of blood pressure | 1 | 221.7× | 0.005 | MYH6 |
| muscle contraction | 1 | 208.1× | 0.005 | MYH6 |
| in utero embryonic development | 1 | 72.0× | 0.014 | MYH6 |
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 |
|---|---|---|
| MYH6 | 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 | MYH6 |
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) |
|---|---|---|
| MYH6 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: MYH6