Autosomal dominant dopa-responsive dystonia
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Summary
Autosomal dominant dopa-responsive dystonia (MONDO:0971063) is a disease. A subtype of dopa-responsive dystonia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
- Phenotypes (HPO): 34
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | Europe | Validated |
Signs & symptoms
Clinical features (HPO)
34 HPO clinical features (Orphanet curated; top 34 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000365 | Hearing impairment | Frequent (30-79%) |
| HP:0000473 | Torticollis | Frequent (30-79%) |
| HP:0000716 | Depression | Frequent (30-79%) |
| HP:0000739 | Anxiety | Frequent (30-79%) |
| HP:0001251 | Ataxia | Frequent (30-79%) |
| HP:0001300 | Parkinsonism | Frequent (30-79%) |
| HP:0001348 | Brisk reflexes | Frequent (30-79%) |
| HP:0001761 | Pes cavus | Frequent (30-79%) |
| HP:0001762 | Talipes equinovarus | Frequent (30-79%) |
| HP:0002063 | Rigidity | Frequent (30-79%) |
| HP:0002066 | Gait ataxia | Frequent (30-79%) |
| HP:0002071 | Abnormality of extrapyramidal motor function | Frequent (30-79%) |
| HP:0002174 | Postural tremor | Frequent (30-79%) |
| HP:0002360 | Sleep abnormality | Frequent (30-79%) |
| HP:0002395 | Lower limb hyperreflexia | Frequent (30-79%) |
| HP:0002451 | Limb dystonia | Frequent (30-79%) |
| HP:0003487 | Babinski sign | Frequent (30-79%) |
| HP:0003785 | Decreased CSF homovanillic acid concentration | Frequent (30-79%) |
| HP:0004373 | Focal dystonia | Frequent (30-79%) |
| HP:0008297 | Transient hyperphenylalaninemia | Frequent (30-79%) |
| HP:0012378 | Fatigue | Frequent (30-79%) |
| HP:0045007 | Abnormality of the substantia nigra | Frequent (30-79%) |
| HP:0002067 | Bradykinesia | Occasional (5-29%) |
| HP:0000666 | Horizontal nystagmus | Occasional (5-29%) |
| HP:0000722 | Compulsive behaviors | Occasional (5-29%) |
| HP:0000821 | Hypothyroidism | Occasional (5-29%) |
| HP:0000822 | Hypertension | Occasional (5-29%) |
| HP:0001370 | Rheumatoid arthritis | Occasional (5-29%) |
| HP:0002166 | Impaired vibration sensation in the lower limbs | Occasional (5-29%) |
| HP:0002601 | Paresis of extensor muscles of the big toe | Occasional (5-29%) |
| HP:0002650 | Scoliosis | Occasional (5-29%) |
| HP:0005876 | Progressive flexion contractures | Occasional (5-29%) |
| HP:0007325 | Generalized dystonia | Occasional (5-29%) |
| HP:0001249 | Intellectual disability | Excluded (0%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | autosomal dominant dopa-responsive dystonia |
| Mondo ID | MONDO:0971063 |
| Orphanet | 98808 |
| ICD-11 | 1143673207 |
| GARD | 0027165 |
| Is cancer (heuristic) | no |
Data availability: 2 cell lines.
Disease family
This is a subtype of dopa-responsive 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 developmental or physiological process › metabolic disease › dopa-responsive dystonia › autosomal dominant dopa-responsive dystonia
Related subtypes (3): TH-deficient dopa-responsive dystonia, dopa-responsive dystonia due to sepiapterin reductase deficiency, dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
Subtypes (2): dystonia 5, intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
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.