symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

Summary

symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (MONDO:0016097) is a disease with 1 cohort gene.

At a glance

• Prevalence: Unknown (Worldwide)
• Cohort genes: 1
• Phenotypes (HPO): 20

Clinical features

Signs & symptoms

Clinical features (HPO)

20 HPO clinical features (Orphanet curated; top 20 by frequency):

HPO ID	Term	Frequency
HP:0002938	Lumbar hyperlordosis	Frequent (30-79%)
HP:0003236	Elevated circulating creatine kinase concentration	Frequent (30-79%)
HP:0003701	Proximal muscle weakness	Frequent (30-79%)
HP:0001435	Abnormality of the shoulder girdle musculature	Occasional (5-29%)
HP:0001644	Dilated cardiomyopathy	Occasional (5-29%)
HP:0001712	Left ventricular hypertrophy	Occasional (5-29%)
HP:0002540	Inability to walk	Occasional (5-29%)
HP:0002942	Thoracic kyphosis	Occasional (5-29%)
HP:0002943	Thoracic scoliosis	Occasional (5-29%)
HP:0003324	Generalized muscle weakness	Occasional (5-29%)
HP:0003326	Myalgia	Occasional (5-29%)
HP:0003394	Muscle spasm	Occasional (5-29%)
HP:0003710	Exercise-induced muscle cramps	Occasional (5-29%)
HP:0003731	Quadriceps muscle weakness	Occasional (5-29%)
HP:0008981	Calf muscle hypertrophy	Occasional (5-29%)
HP:0030097	Absent muscle dystrophin expression	Occasional (5-29%)
HP:0002380	Fasciculations	Excluded (0%)
HP:0003409	Distal sensory impairment of all modalities	Excluded (0%)
HP:0001635	Congestive heart failure	Very rare (<1-4%)
HP:0002987	Elbow flexion contracture	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Mondo ID	MONDO:0016097
Orphanet	206546
SNOMED CT	765197008
UMLS	C4707359
MedGen	1631985
GARD	0020350
Is cancer (heuristic)	no

Data availability: 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › skeletal muscle disorder › myopathy › muscular dystrophy › progressive muscular dystrophy › symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

Related subtypes (12): facioscapulohumeral muscular dystrophy, congenital fibrosis of extraocular muscles, Bethlem myopathy, oculopharyngeal muscular dystrophy, X-linked myopathy with excessive autophagy, myopathy, myofibrillar, 9, with early respiratory failure, progressive scapulohumeroperoneal distal myopathy, myotonic dystrophy, Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy, childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome, oculopharyngodistal myopathy

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: 12 · Orphanet: 5 · 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
DMD	Definitive	X-linked	Becker muscular dystrophy	12

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
DMD	Orphanet:154	Familial isolated dilated cardiomyopathy
DMD	Orphanet:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
DMD	Orphanet:777	X-linked non-syndromic intellectual disability
DMD	Orphanet:98895	Becker muscular dystrophy
DMD	Orphanet:98896	Duchenne 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
DMD	HGNC:2928	ENSG00000198947	P11532	Dystrophin	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
DMD	Dystrophin	Anchors the extracellular matrix to the cytoskeleton via F-actin.

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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
DMD	Transcription factor	no		Znf_ZZ, WW_dom, Actinin_actin-bd_CS

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
dorsal root ganglion	1
skeletal muscle tissue of rectus abdominis	1
trigeminal ganglion	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
DMD	295	ubiquitous	marker	trigeminal ganglion, skeletal muscle tissue of rectus abdominis, dorsal root ganglion

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
DMD	2,479

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
DMD	P11532	6

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. 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×	0.005	DMD
Formation of the dystrophin-glycoprotein complex (DGC)	1	308.6×	0.005	DMD
Non-integrin membrane-ECM interactions	1	154.3×	0.006	DMD

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
regulation of muscle system process	1	16852.0×	7e-04	DMD
regulation of cellular response to growth factor stimulus	1	16852.0×	7e-04	DMD
cardiac muscle cell action potential	1	8426.0×	1e-03	DMD
regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	1	4213.0×	0.001	DMD
peptide biosynthetic process	1	4213.0×	0.001	DMD
regulation of skeletal muscle contraction	1	2808.7×	0.001	DMD
regulation of calcium ion transmembrane transport	1	2106.5×	0.002	DMD
synaptic signaling	1	1532.0×	0.002	DMD
regulation of sodium ion transmembrane transport	1	1053.2×	0.003	DMD
muscle cell development	1	936.2×	0.003	DMD
response to muscle stretch	1	766.0×	0.003	DMD
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	1	674.1×	0.003	DMD
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	1	674.1×	0.003	DMD
muscle cell cellular homeostasis	1	648.1×	0.003	DMD
motile cilium assembly	1	581.1×	0.003	DMD
maintenance of blood-brain barrier	1	481.5×	0.003	DMD
regulation of heart rate	1	468.1×	0.003	DMD
cardiac muscle contraction	1	401.2×	0.003	DMD
skeletal muscle tissue development	1	290.6×	0.005	DMD
neuron development	1	255.3×	0.005	DMD
positive regulation of neuron differentiation	1	198.3×	0.006	DMD
muscle organ development	1	166.8×	0.007	DMD
positive regulation of neuron projection development	1	137.0×	0.008	DMD
protein-containing complex assembly	1	113.9×	0.009	DMD
intracellular protein localization	1	104.7×	0.010	DMD

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
DMD	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	DMD

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)
DMD	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.