ORPHA:70594
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Synonyms: Autosomal recessive sepiapterin reductase-deficient DRD · DRD due to SRD · SPR deficiency · Sepiapterin reductase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dopa-responsive dystonia due to sepiapterin reductase deficiency | Autosomal recessive sepiapterin reductase-deficient DRD · DRD due to SRD · SPR deficiency · Sepiapterin reductase deficiency |
| fr | Dystonie dopa-sensible par déficit en sépiaptérine réductase | DRD autosomique récessive par déficit en sépiaptérine réductase · DRD par déficit en SPR · Déficit en SPR |
| de | Dopa-responsive Dystonie durch Sepiapterin-Reduktase-Mangel | DRD durch SRD · SPR-Mangel · Sepiapterin-Reduktase-Defizienz · Sepiapterin-Reduktase-defiziente DRD, autosomal-rezessiv |
| es | Distonía dopa-sensible por deficiencia de sepiapterina reductasa | DRD deficiente en sepiapterina reductasa autosómica recesiva · DRD por SRD · Deficiencia de SPR · Deficiencia de sepiapterina reductasa |
| it | Distonia Dopa-sensibile da deficit della sepiapterina reduttasi | DRD autosomica recessiva da deficit di sepiapterina reduttasi · DRD da SRD · Deficit di SPR · Deficit di sepiapterina reduttasi |
| nl | Doparesponsieve dystonie als gevolg van sepiapterinereductasedeficiëntie | Autosomaal recessieve sepiapterinereductasedeficiënte DRD · DRD als gevolg van SRD · SPR-deficiëntie · Sepiapterinereductasedeficiëntie |
| pt | Deficiência de sepiapterina redutase | |
| pl | Dystonia wrażliwa na lewodopę spowodowana niedoborem reduktazy sepiapteryny | Autosomalna recesywna DPD z niedoborem reduktazy sepiapteryny · DRD z powodu SRD · Niedobor reduktazy sepiapteryny · Niedobór SPR |
| cs | Dopa responzivní dystonie způsobená deficitem sepiapterin reduktázy | Deficit SPR · Deficit sepiapterin reduktázy · Autozomálně recesivní sepiapterin reduktáza deficientní DRD · DRD způsobená SRD |
| uk | Дофа-залежна дистонія, спричинена дефіцитом сепітаперінредуктази | Аутосомно-рецесивний дефіцит сепітаперінредуктази DRD · DRD через SRD · Дефіцит сепітаперінредуктази · Дефіцит SPR |
| zh | 墨喋呤还原酶缺乏所致多巴反应性肌张力障碍 | 常染色体隐性遗传性墨蝶呤还原酶缺乏型DRD |
| tr | Sepiapterin redüktaz eksikliğine bağlı dopaya duyarlı distoni | SRD nedeniyle DRD · SPR eksikliği · Sepiapterin redüktaz eksikliği · Otozomal Çekinik sepiapterin redüktaz eksikliği olan DRD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612716 | E | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| ICD-11 | 5C59.01 | NTBT | index | validated |
| MONDO | 0012994 | E | validated | |
| MeSH | C562657 | E | validated | |
| UMLS | C0268468 | E | validated | |
| GARD | 10365 | 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPR | Disease-causing germline mutation(s) in | Assessed | HGNC:11257 | ENSG00000116096 | 182125 | 2p13.2 | sepiapterin reductase |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 43 cases | Worldwide | Case(s) | Validated | 22522443[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | 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
26 annotations · validated 2017-10-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000366 | Abnormality of the nose | |
| HP:0000708 | Atypical behavior | |
| HP:0008936 | Axial hypotonia | |
| HP:0002067 | Bradykinesia | |
| HP:0100543 | Cognitive impairment | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002329 | Drowsiness | |
| HP:0001332 | Dystonia | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001347 | Hyperreflexia | |
| HP:0000338 | Hypomimic face | |
| HP:0001249 | Intellectual disability | |
| HP:0002509 | Limb hypertonia | |
| HP:0001270 | Motor delay | |
| HP:0001324 | Muscle weakness | |
| HP:0010553 | Oculogyric crisis | |
| HP:0000508 | Ptosis | |
| HP:0002063 | Rigidity | |
| HP:0002360 | Sleep abnormality | |
| HP:0005968 | Temperature instability | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0100021 | Cerebral palsy | |
| HP:0001510 | Growth delay | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
| HP:0001518 | Small for gestational age | |
Annotation source: 26131547[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/70594
- This record as JSON: /data/d/70594.json