neurogenic scapuloperoneal syndrome, Kaeser type
diseaseOn this page
Also known as Kaeser syndromescapuloperoneal syndrome, neurogenic, Kaeser typeSCPNKstark-Kaeser syndrome
Summary
neurogenic scapuloperoneal syndrome, Kaeser type (MONDO:0008407) is a disease with 1 cohort gene.
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Cohort genes: 1
- ClinVar variants: 109
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 15 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | neurogenic scapuloperoneal syndrome, Kaeser type |
| Mondo ID | MONDO:0008407 |
| MeSH | C566695 |
| OMIM | 181400 |
| Orphanet | 85146 |
| DOID | DOID:0111551 |
| UMLS | C1867005 |
| MedGen | 356670 |
| GARD | 0010312 |
| Is cancer (heuristic) | no |
Also known as: Kaeser syndrome · scapuloperoneal syndrome, neurogenic, Kaeser type · SCPNK · stark-Kaeser syndrome
Data availability: 109 ClinVar variants · 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 myofibrillar proteins › qualitative or quantitative defects of desmin › neurogenic scapuloperoneal syndrome, Kaeser type
Related subtypes (4): myofibrillar myopathy 1, dilated cardiomyopathy 1I, autosomal dominant limb-girdle muscular dystrophy type 1E (DES), rigid spine syndrome
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
109 retrieved; paginated sample, class counts are floors:
53 uncertain significance, 25 conflicting classifications of pathogenicity, 13 benign/likely benign, 7 benign, 5 likely pathogenic, 3 pathogenic/likely pathogenic, 2 pathogenic, 1 likely benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 16835 | NM_001927.4(DES):c.1049G>C (p.Arg350Pro) | DES | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 201722 | NM_001927.4(DES):c.634C>T (p.Arg212Ter) | DES | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 643624 | NM_001927.4(DES):c.226del (p.Thr76fs) | DES | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 66402 | NM_001927.4(DES):c.1360C>T (p.Arg454Trp) | DES | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 66411 | NM_001927.4(DES):c.347A>G (p.Asn116Ser) | DES | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1471108 | NM_001927.4(DES):c.1130T>C (p.Leu377Pro) | DES | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 3382173 | NM_001927.4(DES):c.944dup (p.Gln316fs) | DES | Likely pathogenic | criteria provided, single submitter |
| 3585680 | NM_001927.4(DES):c.322del (p.Glu108fs) | DES | Likely pathogenic | criteria provided, single submitter |
| 3896834 | NM_001927.4(DES):c.1237del (p.Glu413fs) | DES | Likely pathogenic | criteria provided, single submitter |
| 522692 | NM_001927.4(DES):c.1151A>G (p.His384Arg) | DES | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1071184 | NM_001927.4(DES):c.885G>A (p.Trp295Ter) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 178015 | NM_001927.4(DES):c.635G>A (p.Arg212Gln) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 178016 | NM_001927.4(DES):c.665G>A (p.Arg222His) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 193219 | NM_001927.4(DES):c.216C>A (p.Ser72Arg) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 201709 | NM_001927.4(DES):c.1243C>T (p.Arg415Trp) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 222542 | NM_001927.4(DES):c.643G>A (p.Val215Met) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 283467 | NM_001927.4(DES):c.924C>T (p.Asn308=) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 334451 | NM_001927.4(DES):c.*198G>A | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 411141 | NM_001927.4(DES):c.679C>T (p.Arg227Cys) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 44254 | NM_001927.4(DES):c.170C>T (p.Ser57Leu) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 44255 | NM_001927.4(DES):c.18G>A (p.Ser6=) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 44256 | NM_001927.4(DES):c.193G>A (p.Gly65Ser) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 44265 | NM_001927.4(DES):c.638C>T (p.Ala213Val) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 44266 | NM_001927.4(DES):c.642C>T (p.Asp214=) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 44274 | NM_001927.4(DES):c.934G>A (p.Asp312Asn) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 498347 | NM_001927.4(DES):c.1148G>A (p.Arg383His) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 498618 | NM_001927.4(DES):c.229A>G (p.Thr77Ala) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 639517 | NM_001927.4(DES):c.1288+1G>A | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 66408 | NM_001927.4(DES):c.322G>A (p.Glu108Lys) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 66423 | NM_001927.4(DES):c.893C>T (p.Ser298Leu) | DES | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 15 · Orphanet: 3 · 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 |
|---|---|---|---|---|
| DES | Supportive | Autosomal dominant | neurogenic scapuloperoneal syndrome, Kaeser type | 15 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| DES | Orphanet:154 | Familial isolated dilated cardiomyopathy |
| DES | Orphanet:85146 | Neurogenic scapuloperoneal syndrome, Kaeser type |
| DES | Orphanet:98909 | Desminopathy |
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 |
|---|---|---|---|---|---|
| DES | HGNC:2770 | ENSG00000175084 | P17661 | Desmin | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| DES | Desmin | Muscle-specific type III intermediate filament essential for proper muscular structure and function. |
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) |
|---|---|---|---|---|
| DES | Other/Unknown | no | Intermed_filament_DNA-bd, IF_conserved, IF_rod_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 |
|---|---|
| apex of heart | 1 |
| gastrocnemius | 1 |
| saphenous vein | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| DES | 280 | broad | marker | apex of heart, saphenous vein, gastrocnemius |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| DES | 2,486 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| DES | P17661 | 77.73 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 1. 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× | 0.003 | DES |
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 |
|---|---|---|---|---|
| skeletal muscle organ development | 1 | 2106.5× | 0.003 | DES |
| nuclear envelope organization | 1 | 991.3× | 0.003 | DES |
| regulation of heart contraction | 1 | 495.6× | 0.004 | DES |
| intermediate filament organization | 1 | 240.7× | 0.006 | DES |
| muscle contraction | 1 | 208.1× | 0.006 | DES |
| cytoskeleton organization | 1 | 132.7× | 0.008 | DES |
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 |
|---|---|---|
| DES | 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 | DES |
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) |
|---|---|---|
| DES | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: DES