ORPHA:352649
Brain dopamine-serotonin vesicular transport disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brain dopamine-serotonin vesicular transport disease | |
| fr | Déficit du transport vésiculaire cérébral de la dopamine et de la sérotonine | |
| de | Störung des zerebralen vesikulären Dopamin-Serotonin-Transportes | |
| es | Enfermedad del transporte vesicular cerebral de dopamina-serotonina | |
| it | Malattia del trasporto vescicolare cerebrale della dopamina e della serotonina | |
| nl | Defect van vesiculair transport van dopamine en serotonine in hersenen | |
| pt | Doença cerebral do transporte vesicular de dopamina - serotonina | |
| pl | Choroba pęcherzykowego transportu dopaminy-serotoniny w mózgu | |
| cs | Porucha vezikulárního transportu dopamin-serotonin v mozku | |
| uk | Везикулярна хвороба дофамін-серотонінового транспорту мозку | |
| zh | 脑多巴胺-血清素囊泡转运病 | |
| tr | Beyin dopamin-serotonin veziküler taşıma hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618049 | E | validated | |
| ICD-10 | G25.8 | NTBT | attributed | validated |
| ICD-11 | 5C59.Y | NTBT | attributed | validated |
| MONDO | 0018130 | E | validated | |
| UMLS | C4303546 | E | validated | |
| GARD | 13594 | 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 (4):
- ORPHA:79169Disorder of neurotransmitter metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:391711Persistent combined dystonia
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC18A2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10935 | ENSG00000165646 | 193001 | 10q25.3 | solute carrier family 18 member A2 | 23363473[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 23363473[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
31 annotations · validated 2017-02-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0011443 | Abnormality of coordination | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0002597 | Abnormality of the vasculature | |
| HP:0001251 | Ataxia | |
| HP:0008936 | Axial hypotonia | |
| HP:0100543 | Cognitive impairment | |
| HP:0001260 | Dysarthria | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001332 | Dystonia | |
| HP:0012378 | Fatigue | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001611 | Hypernasal speech | |
| HP:0001276 | Hypertonia | |
| HP:0000338 | Hypomimic face | |
| HP:0030215 | Inappropriate crying | |
| HP:0002451 | Limb dystonia | |
| HP:0010553 | Oculogyric crisis | |
| HP:0002310 | Orofacial dyskinesia | |
| HP:0001300 | Parkinsonism | |
| HP:0002421 | Poor head control | |
| HP:0000508 | Ptosis | |
| HP:0005484 | Secondary microcephaly | |
| HP:0002362 | Shuffling gait | |
| HP:0002360 | Sleep abnormality | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0010307 | Stridor | |
| HP:0001337 | Tremor | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 23363473[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352649
- This record as JSON: /data/d/352649.json