ORPHA:306674
Kufor-Rakeb syndrome
Synonyms: PARK9
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kufor-Rakeb syndrome | PARK9 |
| fr | Syndrome de Kufor-Rakeb | = en |
| de | Kufor-Rakeb-Syndrom | = en |
| es | Síndrome de Rufor-Rakeb | = en |
| it | Sindrome di Kufor-Rakeb | = en |
| nl | Syndroom van Kufor-Rakeb | = en |
| pt | Síndrome de Kufor - Rakeb | |
| pl | Zespół Kufora i Rakeba | = en |
| cs | Syndrom Kufor-Rakeb | = en |
| uk | Синдром Куфора-Ракеба | = en |
| zh | KUFOR-RAKEB综合征 | = en |
| tr | Kufor-Rakeb sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606693 | E | validated | |
| ICD-10 | G23.0 | NTBT | attributed | validated |
| MONDO | 0011706 | E | validated | |
| MeSH | C537177 | E | validated | |
| UMLS | C1847640 | E | validated | |
| GARD | 9174 | 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 (3):
- ORPHA:514980ATP13A2-related parkinsonism
rare genetic diseases; rare neurological diseases - ORPHA:385Neurodegeneration with brain iron accumulation
rare genetic diseases; rare neurological diseases - ORPHA:98687Supranuclear eye movement disorder
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP13A2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:30213 | ENSG00000159363 | 610513 | 1p36.13 | ATPase cation transporting 13A2 | 2276817[PMID]_22166458[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 | 20853184[PMID]_21094623[PMID]_DOI: 10.1002/mdc3.12175[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20853184[PMID]_21094623[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
44 annotations · validated 2018-03-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0003487 | Babinski sign | |
| HP:0000726 | Dementia | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0001300 | Parkinsonism | |
| HP:0002063 | Rigidity | |
| HP:0000514 | Slow saccadic eye movements | |
| HP:0000605 | Supranuclear gaze palsy | |
| Frequent (79-30%) | ||
| HP:0001167 | Abnormality of finger | |
| HP:0011446 | Abnormality of higher mental function | |
| HP:0002425 | Anarthria | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001289 | Confusion | |
| HP:0100660 | Dyskinesia | |
| HP:0012378 | Fatigue | |
| HP:0001288 | Gait disturbance | |
| HP:0000338 | Hypomimic face | |
| HP:0008969 | Leg muscle stiffness | |
| HP:0001254 | Lethargy | |
| HP:0001336 | Myoclonus | |
| HP:0010553 | Oculogyric crisis | |
| HP:0000736 | Short attention span | |
| HP:0000183 | Tongue muscle weakness | |
| HP:0000020 | Urinary incontinence | |
| HP:0002367 | Visual hallucinations | |
| Occasional (29-5%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0000741 | Apathy | |
| HP:0000643 | Blepharospasm | |
| HP:0002607 | Bowel incontinence | |
| HP:0002067 | Bradykinesia | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0000658 | Eyelid apraxia | |
| HP:0001945 | Fever | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0007083 | Hyperactive patellar reflex | |
| HP:0001276 | Hypertonia | |
| HP:0031008 | Lingual dystonia | |
| HP:0001268 | Mental deterioration | |
| HP:0000639 | Nystagmus | |
| HP:0025403 | Stooped posture | |
| HP:0002493 | Upper motor neuron dysfunction | |
| HP:0000511 | Vertical supranuclear gaze palsy | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 15986421[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306674
- This record as JSON: /data/d/306674.json