ORPHA:71518
Benign paroxysmal torticollis of infancy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable, Unknown
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollis posturing of the head between infancy and early-childhood.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Benign paroxysmal torticollis of infancy | |
| fr | Torticolis paroxystique bénin de l'enfant | |
| de | Torticollis, benigner paroxysmaler, des Kindesalters | |
| es | Torticolis paroxística benigna del lactante | |
| it | Torcicollo parossistico benigno infantile | |
| nl | Goedaardige paroxysmale torticollis in zuigelingenperiode | |
| pt | Torcicolo paroxístico benigno da infância | |
| pl | Łagodny napadowy kręcz karku niemowląt | |
| cs | Benigní infantilní paroxysmální tortikolis | |
| uk | Доброякісна пароксизмальна кривошия немовлят | |
| zh | 良性婴儿阵发性斜颈 | |
| tr | Süt çocuğunda selim paroksismal tortikollisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G24.3 | NTBT | attributed | validated |
| ICD-11 | 8A02.2 | NTBT | index | validated |
| MONDO | 0019113 | E | validated | |
| UMLS | C3494934 | 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 (1):
- ORPHA:200037Paroxysmal dystonia
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 |
|---|---|---|---|---|---|---|---|---|
| CACNA1A | Disease-causing germline mutation(s) in | Assessed | HGNC:1388 | ENSG00000141837 | 601011 | 19p13.13 | calcium voltage-gated channel subunit alpha1 A | 12162387[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | [EXPERT]_19182151[PMID]_29956301[PMID]_29656928[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
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
10 annotations · validated 2018-04-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000473 | Torticollis | |
| Frequent (79-30%) | ||
| HP:0002457 | Abnormal head movements | |
| HP:0000741 | Apathy | |
| HP:0001251 | Ataxia | |
| HP:0002329 | Drowsiness | |
| HP:0000737 | Irritability | |
| HP:0002076 | Migraine | |
| HP:0000980 | Pallor | |
| HP:0002321 | Vertigo | |
| HP:0002013 | Vomiting | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 12162387[PMID]_25644090[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71518
- This record as JSON: /data/d/71518.json