ORPHA:238455
Infantile dystonia-parkinsonism
Synonyms: DTDS · Dopamine transporter deficiency syndrome · IPD · PKDYS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile dystonia-parkinsonism | DTDS · Dopamine transporter deficiency syndrome · IPD · PKDYS |
| fr | Dystonie-parkinsonisme infantile | DTDS · IPD · PKDYS · Syndrome de déficit du transporteur de la dopamine |
| de | Infantile Dystonie-Parkinsonismus | Dopamin-Transporterdefektsyndrom · Dystonie-Parkinsonismus-Syndrom, infantiles · IPD · PKDYS |
| es | Distonía-parkinsonismo infantil | IPD · PKDYS |
| it | Distonia-parkinsonismo infantile | IPD · PKDYS |
| nl | Infantiele dystonie-parkinsonisme | IPD · PKDYS |
| pt | Distonia-parkinsonismo infantil | IPD · PKDYS |
| pl | Dziecięca dystonia-parkinsonizm | IPD · PKDYS · Niemowlęca dystonia-parkinsonizm |
| cs | Infantilní dystonie a parkinsonismus | IPD · PKDYS |
| uk | Інфантильна дистонія-паркінсонізм | Синдром дефіциту транспортера дофаміну · DTDS · IPD · PKDYS |
| zh | 婴儿肌张力障碍-帕金森病 | 帕金森病-张力障碍综合征 |
| tr | İnfantil distoni-parkinsonizm | IPD · PKDYS |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613135 | BTNT | validated | |
| OMIM | 619738 | BTNT | validated | |
| ICD-10 | G24.8 | NTBT | attributed | validated |
| ICD-11 | 8A02.12 | NTBT | index | validated |
| MONDO | 0013150 | E | validated | |
| MeSH | C567730 | E | validated | |
| UMLS | C2751067 | E | validated | |
| GARD | 10484 | 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:391711Persistent combined dystonia
rare genetic diseases; rare neurological diseases - ORPHA:307055Rare parkinsonian syndrome due to genetic neurodegenerative disease
rare genetic diseases - ORPHA:306666Rare parkinsonian syndrome due to neurodegenerative disease
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 |
|---|---|---|---|---|---|---|---|---|
| SLC6A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11049 | ENSG00000142319 | 126455 | 5p15.33 | solute carrier family 6 member 3 | |
| WARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:12730 | ENSG00000116874 | 604733 | 1p12 | tryptophanyl tRNA synthetase 2, mitochondrial | 31970218[PMID]_34890876[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 24613933[PMID]_19478460[PMID]_22279524[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24613933[PMID]_19478460[PMID]_22279524[PMID] |
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
20 annotations · validated 2018-06-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001332 | Dystonia | |
| HP:0001300 | Parkinsonism | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0004354 | Abnormality of carboxylic acid metabolism | |
| HP:0001344 | Absent speech | |
| HP:0008936 | Axial hypotonia | |
| HP:0002067 | Bradykinesia | |
| HP:0100021 | Cerebral palsy | |
| HP:0002072 | Chorea | |
| HP:0002019 | Constipation | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001263 | Global developmental delay | |
| HP:0001276 | Hypertonia | |
| HP:0002375 | Hypokinesia | |
| HP:0000338 | Hypomimic face | |
| HP:0000737 | Irritability | |
| HP:0002509 | Limb hypertonia | |
| HP:0010553 | Oculogyric crisis | |
| HP:0002310 | Orofacial dyskinesia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 19478460[PMID]_22030388[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/238455
- This record as JSON: /data/d/238455.json