Ehlers-Danlos syndrome, musculocontractural type 2
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Also known as DSE Ehlers-Danlos syndrome, musculocontractural typeEDSMC2Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE
Summary
Ehlers-Danlos syndrome, musculocontractural type 2 (MONDO:0014236) is a disease caused by DSE (GenCC Definitive), with 1 cohort gene.
At a glance
- Causal gene: DSE (GenCC Definitive)
- Cohort genes: 1
- ClinVar variants: 303
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Ehlers-Danlos syndrome, musculocontractural type 2 |
| Mondo ID | MONDO:0014236 |
| OMIM | 615539 |
| DOID | DOID:0080735, DOID:0080737 |
| UMLS | C3809845 |
| MedGen | 816175 |
| GARD | 0015982 |
| Is cancer (heuristic) | no |
Also known as: DSE Ehlers-Danlos syndrome, musculocontractural type · EDSMC2 · Ehlers-Danlos syndrome, musculocontractural type 2 · Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE
Data availability: 303 ClinVar variants · 6 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › congenital disorder of glycosylation › Ehlers-Danlos syndrome, musculocontractural type › Ehlers-Danlos syndrome, musculocontractural type 2
Related subtypes (1): Ehlers-Danlos syndrome, musculocontractural type 1
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
303 retrieved; paginated sample, class counts are floors:
143 likely benign, 124 uncertain significance, 13 conflicting classifications of pathogenicity, 10 benign/likely benign, 6 pathogenic, 5 benign, 2 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 2119102 | NM_013352.4(DSE):c.480del (p.Ala161fs) | DSE | Pathogenic | criteria provided, single submitter |
| 3773661 | NM_013352.4(DSE):c.874C>T (p.Gln292Ter) | DSE | Pathogenic | criteria provided, single submitter |
| 446171 | NM_013352.4(DSE):c.799A>G (p.Arg267Gly) | DSE | Pathogenic | no assertion criteria provided |
| 4807721 | NM_013352.4(DSE):c.406C>T (p.Gln136Ter) | DSE | Pathogenic | criteria provided, single submitter |
| 4809221 | NM_013352.4(DSE):c.811del (p.Gln271fs) | DSE | Pathogenic | criteria provided, single submitter |
| 88848 | NM_013352.4(DSE):c.803C>T (p.Ser268Leu) | DSE | Pathogenic | no assertion criteria provided |
| 1708660 | NM_013352.4(DSE):c.416+1G>A | DSE | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 3592992 | NM_013352.4(DSE):c.2097G>A (p.Trp699Ter) | DSE | Likely pathogenic | criteria provided, single submitter |
| 1053091 | NM_013352.4(DSE):c.2186G>A (p.Ser729Asn) | DSE | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1200367 | NM_013352.4(DSE):c.2635C>T (p.Arg879Trp) | DSE | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1702235 | NM_013352.4(DSE):c.189G>A (p.Ser63=) | DSE | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1702236 | NM_013352.4(DSE):c.2184G>A (p.Lys728=) | DSE | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 391864 | NM_013352.4(DSE):c.359T>C (p.Ile120Thr) | DSE | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 392192 | NM_013352.4(DSE):c.1004G>A (p.Arg335His) | DSE | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 450138 | NM_013352.4(DSE):c.1897G>A (p.Val633Met) | DSE | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 452829 | NM_013352.4(DSE):c.2168G>A (p.Arg723Gln) | DSE | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 508454 | NM_013352.4(DSE):c.2601C>T (p.Tyr867=) | DSE | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 511744 | NM_013352.4(DSE):c.450G>A (p.Pro150=) | DSE | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 541546 | NM_013352.4(DSE):c.2005A>G (p.Ile669Val) | DSE | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 739017 | NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) | DSE | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 752550 | NM_013352.4(DSE):c.1381G>A (p.Ala461Thr) | DSE | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1000265 | NM_013352.4(DSE):c.121G>A (p.Asp41Asn) | DSE | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1002117 | NM_013352.4(DSE):c.110A>G (p.Asn37Ser) | DSE | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1019817 | NM_013352.4(DSE):c.325T>G (p.Leu109Val) | DSE | Uncertain significance | criteria provided, single submitter |
| 1030280 | NM_013352.4(DSE):c.2215G>T (p.Ala739Ser) | DSE | Uncertain significance | criteria provided, single submitter |
| 1030281 | NM_013352.4(DSE):c.2761A>G (p.Thr921Ala) | DSE | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1030282 | NM_013352.4(DSE):c.364G>A (p.Ala122Thr) | DSE | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1030283 | NM_013352.4(DSE):c.95T>A (p.Met32Lys) | DSE | Uncertain significance | criteria provided, single submitter |
| 1054354 | NM_013352.4(DSE):c.53G>A (p.Cys18Tyr) | DSE | Uncertain significance | criteria provided, single submitter |
| 1055608 | NM_013352.4(DSE):c.277G>A (p.Asp93Asn) | DSE | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 7 · Orphanet: 1 · 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 |
|---|---|---|---|---|
| DSE | Definitive | Autosomal recessive | Ehlers-Danlos syndrome, musculocontractural type 2 | 7 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| DSE | Orphanet:2953 | Musculocontractural Ehlers-Danlos 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 |
|---|---|---|---|---|---|
| DSE | HGNC:21144 | ENSG00000111817 | Q9UL01 | Dermatan-sulfate epimerase | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| DSE | Dermatan-sulfate epimerase | Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0
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 |
|---|---|---|---|
| Enzyme (other) | 1 | 12.0× | 0.083 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| DSE | Enzyme (other) | yes | 5.1.3.19 | Chondroitin_lyas, Dermatan-Sulfate_Isomerase |
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 |
|---|---|
| calcaneal tendon | 1 |
| germinal epithelium of ovary | 1 |
| parietal pleura | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| DSE | 275 | ubiquitous | marker | parietal pleura, calcaneal tendon, germinal epithelium of ovary |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| DSE | 467 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| DSE | Q9UL01 | 1 |
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 |
|---|---|---|---|---|
| DS-GAG biosynthesis | 1 | 951.7× | 0.001 | DSE |
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 |
|---|---|---|---|---|
| dermatan sulfate proteoglycan metabolic process | 1 | 5617.3× | 5e-04 | DSE |
| chondroitin sulfate proteoglycan metabolic process | 1 | 4213.0× | 5e-04 | DSE |
| dermatan sulfate proteoglycan biosynthetic process | 1 | 1685.2× | 8e-04 | DSE |
| heparan sulfate proteoglycan biosynthetic process | 1 | 561.7× | 0.002 | DSE |
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 |
|---|---|---|
| DSE | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| DSE | 5.1.3.19 | chondroitin-glucuronate 5-epimerase |
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 | 1 | DSE |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 0 |
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) |
|---|---|---|
| DSE | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: DSE