desmin-related myopathy with Mallory body-like inclusions

Summary

desmin-related myopathy with Mallory body-like inclusions (MONDO:0019398) is a disease with 1 cohort gene.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Cohort genes: 1

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		5	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	desmin-related myopathy with Mallory body-like inclusions
Mondo ID	MONDO:0019398
Orphanet	84132
ICD-11	998522839
UMLS	C4275073
MedGen	898925
GARD	0016732
Is cancer (heuristic)	no

Also known as: early-onset desmin-related myopathy

Data availability: 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › qualitative or quantitative protein defects in neuromuscular diseases › neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1 › multiminicore myopathy › rigid spine muscular dystrophy 1 › desmin-related myopathy with Mallory body-like inclusions

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

No tiered GWAS variants or ClinVar records for this disease.

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
SELENON	Definitive	Autosomal recessive	SELENON-related myopathy	8

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SELENON	Orphanet:2020	Congenital fiber-type disproportion myopathy
SELENON	Orphanet:324604	Classic multiminicore myopathy
SELENON	Orphanet:84132	Desmin-related myopathy with Mallory body-like inclusions
SELENON	Orphanet:97244	Rigid spine syndrome

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
SELENON	HGNC:15999	ENSG00000162430	Q9NZV5	Selenoprotein N	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SELENON	Selenoprotein N	Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis.

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)
SELENON	Other/Unknown	no		EF_hand_dom

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
ganglionic eminence	1
stromal cell of endometrium	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SELENON	244	ubiquitous	marker	stromal cell of endometrium, ventricular zone, ganglionic eminence

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SELENON	800

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
SELENON	Q9NZV5

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 skeletal muscle cell proliferation	1	8426.0×	0.001	SELENON
positive regulation of response to oxidative stress	1	8426.0×	0.001	SELENON
L-ascorbic acid transmembrane transport	1	5617.3×	0.001	SELENON
regulation of ryanodine-sensitive calcium-release channel activity	1	5617.3×	0.001	SELENON
diaphragm contraction	1	4213.0×	0.001	SELENON
response to muscle activity involved in regulation of muscle adaptation	1	4213.0×	0.001	SELENON
membrane biogenesis	1	3370.4×	0.001	SELENON
skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration	1	2808.7×	0.001	SELENON
membrane to membrane docking	1	2808.7×	0.001	SELENON
skeletal muscle satellite cell differentiation	1	2106.5×	0.001	SELENON
obsolete mitochondrion-endoplasmic reticulum membrane tethering	1	2106.5×	0.001	SELENON
L-ascorbic acid metabolic process	1	1532.0×	0.001	SELENON
cellular response to caffeine	1	1532.0×	0.001	SELENON
multicellular organismal response to stress	1	1296.3×	0.002	SELENON
energy reserve metabolic process	1	1053.2×	0.002	SELENON
mitochondrial calcium ion transmembrane transport	1	991.3×	0.002	SELENON
calcium ion import	1	802.5×	0.002	SELENON
skeletal muscle fiber development	1	543.6×	0.003	SELENON
membrane organization	1	510.7×	0.003	SELENON
ATP metabolic process	1	468.1×	0.003	SELENON
calcium ion homeostasis	1	443.5×	0.003	SELENON
lung alveolus development	1	351.1×	0.004	SELENON
cell redox homeostasis	1	343.9×	0.004	SELENON
collagen fibril organization	1	224.7×	0.005	SELENON
response to endoplasmic reticulum stress	1	166.8×	0.007	SELENON
transforming growth factor beta receptor signaling pathway	1	159.0×	0.007	SELENON
cellular response to oxidative stress	1	154.6×	0.007	SELENON
mitochondrion organization	1	151.8×	0.007	SELENON
gene expression	1	79.9×	0.013	SELENON

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
SELENON	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	SELENON

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)
SELENON	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.