ORPHA:101150
Autosomal recessive dopa-responsive dystonia
Synonyms: Autosomal recessive Segawa syndrome · DYT5b · Tyrosine hydroxylase deficiency · Tyrosine hydroxylase-deficient dopa-responsive dystonia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive dopa-responsive dystonia | Autosomal recessive Segawa syndrome · DYT5b · Tyrosine hydroxylase deficiency · Tyrosine hydroxylase-deficient dopa-responsive dystonia |
| fr | Dystonie dopa-sensible autosomique récessive | DYT5b · Dystonie dopa-sensible par déficit en tyrosine hydroxylase · Déficit en tyrosine hydroxylase · Syndrome de Segawa autosomique récessif |
| de | Dopa-responsive Dystonie, autosomal-rezessive | DYT5b · Segawa-Syndrom, autosomal-rezessives · Tyrosin-Hydroxylase-Mangel · Tyrosin-Hydroxylase-defiziente dopa-responsive Dystonie |
| es | Distonía dopa-sensible autosómica recesiva | DYT5b · Deficiencia de tirosina hidroxilasa · Distonía dopa-sensible deficiente en tirosina hidroxilasa · Síndrome de Segawa autosómico recesivo |
| it | Distonia Dopa-sensibile autosomica recessiva | DYT5b · Deficit di tirosina idrossilasi · Distonia Dopa-sensibile da deficit di tirosina idrossilasi · Sindrome di Segawa autosomica recessiva |
| nl | Autosomaal recessieve doparesponsieve dystonie | Autosomaal recessief syndroom van Segawa · DYT5b · Tyrosinehydroxylasedeficiënte doparesponsieve dystonie · Tyrosinehydroxylasedeficiëntie |
| pt | Distonia sensível à dopa autossómica recessiva | |
| pl | Autosomalna recesywna dystonia reagująca na L-dopa | Autosomalny recesywny zespół Segawa · Dystonia z niedoborem hydroksylazy tyrozyny wrażliwa na L-dopa · Niedobór hydrolazy tyrozyny |
| cs | Autozomálně recesivní dopa-responzivní dystonie | DYT5b · Deficit tyrosin hydroxylázy · Tyrosin hydroxyláza-deficientní dopa-responzivní dystonie · Autozomálně recesivní Segawova nemoc |
| uk | Аутосомно-рецесивна дофа-залежна дистонія | Аутосомно-рецесивний синдром Сегави · DYT5b · Дефіцит тирозин гідроксилази · Тирозин-гідроксилазно-дефіцитна допа-реактивна дистонія |
| zh | 常染色体隐性遗传多巴反应性肌张力障碍 | 酪氨酸羟化酶缺陷所致多巴反应性肌张力障碍 |
| tr | Otozomal resesif dopaya duyarlı distoni | DYT5b · Tirozin hidroksilaz eksikliği · Otozomal çekinik Segawa sendromu · Tirozin hidroksilaz eksikliği olan dopa-duyarlı distoni |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605407 | E | validated | |
| OMIM | 620453 | BTNT | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| ICD-11 | 8A02.11 | NTBT | index | validated |
| MONDO | 0011551 | E | validated | |
| MeSH | C537537 | E | validated | |
| UMLS | C5700309 | E | validated | |
| GARD | 1902 | 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 (3):
- ORPHA:284818Disorder of tyrosine metabolism
rare inborn errors of metabolism; rare genetic diseases - 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.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TSPOAP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16831 | ENSG00000005379 | 610764 | 17q22 | TSPO associated protein 1 | 33539324[PMID] |
| TH | Disease-causing germline mutation(s) in | Assessed | HGNC:11782 | ENSG00000180176 | 191290 | 11p15.5 | tyrosine hydroxylase |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
33 annotations · validated 2018-02-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0001251 | Ataxia | |
| HP:0003487 | Babinski sign | |
| HP:0002067 | Bradykinesia | |
| HP:0001348 | Brisk reflexes | |
| HP:0002019 | Constipation | |
| HP:0003785 | Decreased CSF homovanillic acid concentration | |
| HP:0000750 | Delayed speech and language development | |
| HP:0003781 | Excessive salivation | |
| HP:0011968 | Feeding difficulties | |
| HP:0004373 | Focal dystonia | |
| HP:0002066 | Gait ataxia | |
| HP:0002375 | Hypokinesia | |
| HP:0001252 | Hypotonia | |
| HP:0000737 | Irritability | |
| HP:0001254 | Lethargy | |
| HP:0002451 | Limb dystonia | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0001270 | Motor delay | |
| HP:0001336 | Myoclonus | |
| HP:0030166 | Night sweats | |
| HP:0010553 | Oculogyric crisis | |
| HP:0001300 | Parkinsonism | |
| HP:0001761 | Pes cavus | |
| HP:0002174 | Postural tremor | |
| HP:0000508 | Ptosis | |
| HP:0002063 | Rigidity | |
| HP:0001762 | Talipes equinovarus | |
| Occasional (29-5%) | ||
| HP:0001945 | Fever | |
| HP:0007325 | Generalized dystonia | |
| HP:0001256 | Intellectual disability, mild | |
| Very rare (<4-1%) | ||
| HP:0001290 | Generalized hypotonia | |
| HP:0002448 | Progressive encephalopathy | |
Annotation source: 8817341[PMID]_16722965[PMID]_22030388[PMID]_20482602[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101150
- This record as JSON: /data/d/101150.json