ORPHA:98808
Autosomal dominant dopa-responsive dystonia
Synonyms: Autosomal dominant Segawa syndrome · DYT5a · GTPCH1-deficient DRD · GTPCH1-deficient dopa-responsive dystonia · HPD with marked diurnal fluctuation · Hereditary progressive dystonia with marked diurnal fluctuation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Childhood
- Status
- active
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant dopa-responsive dystonia | Autosomal dominant Segawa syndrome · DYT5a · GTPCH1-deficient DRD · GTPCH1-deficient dopa-responsive dystonia · HPD with marked diurnal fluctuation · Hereditary progressive dystonia with marked diurnal fluctuation |
| fr | Dystonie dopa-sensible autosomique dominante | DYT5a · Dystonie progressive héréditaire avec fluctuations diurnes marquées · Syndrome de Segawa autosomique dominant |
| de | Dopa-responsive Dystonie, autosomal-dominante | DYT5a · GTPCH1-defiziente DRD · GTPCH1-defiziente dopa-responsive Dystonie · Hereditäre progressive Dystonie mit tageszeitlicher Fluktuation · Segawa-Syndrom, autosomal-dominantes |
| es | Distonía dopa-sensible autosómica dominante | DRD deficiente en GTPCH1 · DYT5a · Distonía dopa-sensible deficiente en GTPCH1 · Distonía hereditaria progresiva con marcada fluctuación diurna · HPD con marcada fluctuación diurna · Síndrome de Segawa autosómico dominante |
| it | Distonia Dopa-sensibile autosomica dominante | DRD da deficit di GTPCH1 · DYT5a · Distonia Dopa-sensibile da deficit di GTPCH1 · Distonia progressiva ereditaria con marcata fluttuazione diurna · HPD con marcata fluttuazione diurna · Sindrome di Segawa autosomica dominante |
| nl | Autosomaal dominante doparesponsieve dystonie | Autosomaal dominant syndroom van Segawa · DYT5a · Erfelijke progressieve dystonie met duidelijke diurnale fluctuatie · GTPCH1-deficiëntie DRD · GTPCH1-deficiëntie doparesponsieve dystonie · HPD met duidelijke diurnale fluctuatie · Hereditaire progressieve dystonie met duidelijke diurnale fluctuatie |
| pt | Distonia sensível à dopa autossómica dominante | |
| pl | Autosomalna dominująca dystonia reagująca na lewodopę | Autosomalny dominujący zespół Segawa · DRD z deficytem GTPCH1 · Dystonia reagująca na lewodopę z deficytem GTPCH1 · DYT5a |
| cs | Autozomálně dominantní dopa-responzivní dystonie | DYT5a · GTPCH1-deficientní DRD · GTPCH1-deficientní dopa-responzivní dystonie · HPD s výraznou diurnální fluktuací · Hereditární progresivní dystonie s výraznou diurnální fluktuací · Autozomálně dominantní Segawův syndrom |
| uk | Аутосомно-домінантна дофа-залежна дистонія | Аутосомно-домінантний синдром Сегави · DYT5a · GTPCH1-дефіцитна дофа-реактивна дистонія · DRD з дефіцитом GTPCH1 · Спадкова прогресуюча дистонія з вираженими добовими коливаннями · HPD з вираженими добовими коливаннями |
| zh | 常染色体显性遗传多巴反应性肌张力障碍 | 昼夜波动明显的遗传性进行性肌张力障碍 |
| tr | Otozomal dominant dopa-duyarlı distoni | DYT5a · GTPCH1-eksik DRD · Otozomal baskın Segawa sendromu · Diurnal belirgin dalgalanma ile seyreden HPD · GTPCH1 eksikliği olan dopaya duyarlı distoni · Diurnal belirgin dalgalanma ile seyreden kalıtsal ilerleyici distoni |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 128230 | BTNT | validated | |
| OMIM | 619911 | BTNT | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| ICD-11 | 8A02.11 | NTBT | index | validated |
| MONDO | 0971063 | E | validated | |
| MONDO | 971063 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:255Dopa-responsive dystonia
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:101151Dystonia 14 moved to · inactive
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IMPDH2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6053 | ENSG00000178035 | 146691 | 3p21.31 | inosine monophosphate dehydrogenase 2 | 34305140[PMID] |
| NR4A2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7981 | ENSG00000153234 | 601828 | 2q24.1 | nuclear receptor subfamily 4 group A member 2 | 31922365[PMID] |
| GCH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4193 | ENSG00000131979 | 600225 | 14q22.2 | GTP cyclohydrolase 1 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
34 annotations · validated 2018-02-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0045007 | Abnormality of the substantia nigra | |
| HP:0000739 | Anxiety | |
| HP:0001251 | Ataxia | |
| HP:0003487 | Babinski sign | |
| HP:0001348 | Brisk reflexes | |
| HP:0003785 | Decreased CSF homovanillic acid concentration | |
| HP:0000716 | Depression | |
| HP:0012378 | Fatigue | |
| HP:0004373 | Focal dystonia | |
| HP:0002066 | Gait ataxia | |
| HP:0000365 | Hearing impairment | |
| HP:0002451 | Limb dystonia | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0001300 | Parkinsonism | |
| HP:0001761 | Pes cavus | |
| HP:0002174 | Postural tremor | |
| HP:0002063 | Rigidity | |
| HP:0002360 | Sleep abnormality | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000473 | Torticollis | |
| HP:0008297 | Transient hyperphenylalaninemia | |
| Occasional (29-5%) | ||
| HP:0002067 | Bradykinesia | |
| HP:0000722 | Compulsive behaviors | |
| HP:0007325 | Generalized dystonia | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0000822 | Hypertension | |
| HP:0000821 | Hypothyroidism | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0002601 | Paresis of extensor muscles of the big toe | |
| HP:0005876 | Progressive flexion contractures | |
| HP:0001370 | Rheumatoid arthritis | |
| HP:0002650 | Scoliosis | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | |
Annotation source: 22030388[PMID]_20482602[PMID]_16908750[PMID]_12084887[PMID]_11346370[PMID]_1899474[PMID]_3762960[PMID]_942621[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98808
- This record as JSON: /data/d/98808.json