Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Summary

Emery-Dreifuss muscular dystrophy 7, autosomal dominant (MONDO:0013677) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 68

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Mondo ID	MONDO:0013677
OMIM	614302
DOID	DOID:0070252
UMLS	C3553060
MedGen	765974
GARD	0018208
Is cancer (heuristic)	no

Also known as: autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43 · EDMD7 · Emery-Dreifuss muscular dystrophy 7, autosomal dominant · TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy

Data availability: 68 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › autosomal dominant Emery-Dreifuss muscular dystrophy › Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Related subtypes (3): Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 2, autosomal dominant

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

68 retrieved; paginated sample, class counts are floors:

30 uncertain significance, 24 conflicting classifications of pathogenicity, 8 benign/likely benign, 5 benign, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
3027429	NM_024334.3(TMEM43):c.201dup (p.Leu68fs)	TMEM43	Likely pathogenic	criteria provided, single submitter
179489	NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
180542	NM_024334.3(TMEM43):c.644A>C (p.His215Pro)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
180544	NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
191780	NM_024334.3(TMEM43):c.121A>G (p.Met41Val)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
202116	NM_024334.3(TMEM43):c.601G>A (p.Asp201Asn)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
202119	NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
263617	NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
36872	NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
403555	NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
40871	NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
429495	NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
46151	NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
46152	NM_024334.3(TMEM43):c.705+7G>A	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
46155	NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
466418	NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
534765	NM_024334.3(TMEM43):c.265G>A (p.Val89Met)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
642592	NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
643003	NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
653012	NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
809431	NM_024334.3(TMEM43):c.679C>G (p.His227Asp)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
845707	NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
863138	NM_024334.3(TMEM43):c.90C>T (p.Ser30=)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
88981	NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
923336	NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)	TMEM43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1052946	NM_024334.3(TMEM43):c.200G>T (p.Gly67Val)	TMEM43	Uncertain significance	criteria provided, multiple submitters, no conflicts
1063592	NM_024334.3(TMEM43):c.1172_1184del (p.Arg391fs)	TMEM43	Uncertain significance	criteria provided, multiple submitters, no conflicts
1394218	NM_024334.3(TMEM43):c.760_780+2dup	TMEM43	Uncertain significance	criteria provided, multiple submitters, no conflicts
1395869	NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile)	TMEM43	Uncertain significance	criteria provided, multiple submitters, no conflicts
1678071	NM_024334.3(TMEM43):c.749dup (p.Asp251fs)	TMEM43	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 8 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
TMEM43	Supportive	Autosomal dominant	autosomal dominant Emery-Dreifuss muscular dystrophy	8

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TMEM43	Orphanet:293888	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
TMEM43	Orphanet:293899	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
TMEM43	Orphanet:293910	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
TMEM43	Orphanet:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy

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
TMEM43	HGNC:28472	ENSG00000170876	Q9BTV4	Transmembrane protein 43	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TMEM43	Transmembrane protein 43	May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane.

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)
TMEM43	Other/Unknown	no		TMEM43_fam

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
ascending aorta	1
descending thoracic aorta	1
thoracic aorta	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TMEM43	287	ubiquitous	marker	descending thoracic aorta, thoracic aorta, ascending aorta

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TMEM43	1,864

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
TMEM43	Q9BTV4	89.92

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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 cell communication by electrical coupling	1	8426.0×	9e-04	TMEM43
nuclear membrane organization	1	2407.4×	0.001	TMEM43
metal ion transport	1	1872.4×	0.001	TMEM43
sodium ion transport	1	271.8×	0.007	TMEM43
potassium ion transport	1	191.5×	0.007	TMEM43
memory	1	183.2×	0.007	TMEM43
lipid metabolic process	1	91.6×	0.012	TMEM43
innate immune response	1	33.6×	0.030	TMEM43

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
TMEM43	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
TMEM43	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	TMEM43

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)
TMEM43	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.