Dystonia 21
disease diseaseOn this page
Also known as dystonia type 21DYT21
Summary
Dystonia 21 (MONDO:0013813) is a disease. A subtype of generalized dystonia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 9
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 16 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
9 HPO clinical features (Orphanet curated; top 9 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001332 | Dystonia | Very frequent (80-99%) |
| HP:0000473 | Torticollis | Frequent (30-79%) |
| HP:0000643 | Blepharospasm | Frequent (30-79%) |
| HP:0002268 | Paroxysmal dystonia | Frequent (30-79%) |
| HP:0004373 | Focal dystonia | Frequent (30-79%) |
| HP:0007325 | Generalized dystonia | Frequent (30-79%) |
| HP:0002451 | Limb dystonia | Occasional (5-29%) |
| HP:0002530 | Axial dystonia | Occasional (5-29%) |
| HP:0012049 | Laryngeal dystonia | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | dystonia 21 |
| Mondo ID | MONDO:0013813 |
| OMIM | 614588 |
| Orphanet | 306734 |
| DOID | DOID:0090046 |
| UMLS | C3281236 |
| MedGen | 482866 |
| GARD | 0017383 |
| Is cancer (heuristic) | no |
Also known as: dystonia 21 · dystonia type 21 · DYT21
Disease family
This is a subtype of generalized dystonia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › movement disorder › extrapyramidal and movement disease › dystonic disorder › inherited dystonia › isolated dystonia › generalized dystonia › dystonia 21
Related subtypes (2): torsion dystonia 6, early-onset generalized dystonia
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
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.