ORPHA:98809
Paroxysmal kinesigenic dyskinesia
Synonyms: Familial PKD · Familial paroxysmal kinesigenic dyskinesia · Paroxysmal kinesigenic choreathetosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paroxysmal kinesigenic dyskinesia | Familial PKD · Familial paroxysmal kinesigenic dyskinesia · Paroxysmal kinesigenic choreathetosis |
| fr | Dyskinésie paroxystique kinésigénique | Choréoathétose paroxystique kinésigénique · Dyskinésie paroxystique kinésigénique familiale · PKD familiale |
| de | Paroxysmale kinesiogene Dyskinesie | Familiäre paroxysmale kinesiogene Dyskinesie · PKD, familiäre · Paroxysmale kinesiogene Choreathetose |
| es | Discinesia paroxística cinesigénica | Coreoatetosis cinesigénica paroxística · Discinesia paroxística cinesigénica familiar · PKD familiar |
| it | Discinesia chinesigenica parossistica | Coreatetosi chinesigenica parossistica · Discinesia chinesigenica parossistica familiare · PKD familiare |
| nl | Paroxysmale kinesiogene dyskinesie | Familiale PKD · Familiale paroxysmale kinesiogene dyskinesie · Paroxysmale kinesiogene choreoathetose |
| pt | Discinesia paroxística cinesigénica | Coreoatetose paroxística cinesigénica · Discinesia paroxística cinesigénica familiar · PKD familiar |
| pl | Napadowa dyskineza kinezygenna | = en |
| cs | Paroxysmální kinezigenní dyskineze | Familiární PKD · Familiární paroxysmální kinezigenní dyskineze · Paroxysmální kinezigenní choreoatetóza |
| uk | Пароксизмальна кінезигенна дискінезія | Сімейна пароксизмальна кінезигенна дискінезія · Сімейна ПКД · Пароксизмальний кінезигенний хореатетоз |
| zh | 阵发性运动诱发性运动障碍 | 家族性阵发性非运动诱发性运动障碍 |
| tr | Paroksismal kinezijenik diskinezi | Ailesel PKD · Paroksismal kinesigenik koreatetoz · Ailesel paroksismal kinesigenik diskinezi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 128200 | E | validated | |
| OMIM | 611031 | BTNT | validated | |
| ICD-10 | G24.8 | NTBT | attributed | validated |
| ICD-11 | 8A02.2 | NTBT | index | validated |
| MONDO | 0044202 | E | validated | |
| MONDO | 44202 | E | validated | |
| UMLS | C1868682 | E | validated | |
| GARD | 8721 | 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:98746Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
rare genetic diseases - ORPHA:1431Paroxysmal dyskinesia
rare genetic diseases; rare neurological diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6218 | ENSG00000111262 | 176260 | 12p13.32 | potassium voltage-gated channel subfamily A member 1 | 29294000[PMID] |
| KCNJ10 | Disease-causing germline mutation(s) in | Assessed | HGNC:6256 | ENSG00000177807 | 602208 | 1q23.2 | potassium inwardly rectifying channel subfamily J member 10 | 38979912[PMID] |
| PRRT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30500 | ENSG00000167371 | 614386 | 16p11.2 | proline rich transmembrane protein 2 | 23398397[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.6 / 100 000 | Worldwide | Value and class | Validated | 20301633[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
9 annotations · validated 2018-02-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002305 | Athetosis | |
| HP:0002072 | Chorea | |
| HP:0100660 | Dyskinesia | |
| HP:0001332 | Dystonia | |
| HP:0004305 | Involuntary movements | |
| Frequent (79-30%) | ||
| HP:0011157 | Focal sensory seizure | |
| Occasional (29-5%) | ||
| HP:0002076 | Migraine | |
| HP:0001250 | Seizure | |
| HP:0002356 | Writer's cramp | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 24465263[PMID]_11346027[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98809
- This record as JSON: /data/d/98809.json