ORPHA:2388
Choreoacanthocytosis
Synonyms: ChAc · Chorea-acanthocytosis · Levine-Critchley syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Choreoacanthocytosis | ChAc · Chorea-acanthocytosis · Levine-Critchley syndrome |
| fr | Chorée-acanthocytose | ChAc · Syndrome de Levine-Critchley |
| de | Choreoakanthozytose | ChAc · Chorea-Akanthozytose · Levine-Critchley-Syndrom |
| es | Coreoacantocitosis | ChAc · Corea-acantocitosis · Síndrome de Levine-Critchley |
| it | Coreoacantocitosi | Corea-acantocitosi · Sindrome di Levine-Critchley · ChAc |
| nl | Choreoacanthocytose | ChAc · Chorea-acanthocytose · Syndroom van Levine-Critchley |
| pt | Coreoacantocitose | ChAc · Coreo-acantocitose · Síndrome Levine-Critchley |
| pl | Choreoakantocytoza | ChAc · pląsawica-akantocytoza · Zespół Levine'a i Critchley'a |
| cs | Choreoakantocytóza | ChA · Chorea a akantocytóza · Levineův-Critchleyův syndrom · Levine-Critchleyův syndrom |
| uk | Хореоакантоцитоз | ChAc · Хорея-акантоцитоз · Синдром Левіна-Крітчлі |
| zh | 舞蹈样运动棘红细胞症 | Levine-Critchley 综合征 |
| tr | Koreakantositoz | ChAc · Kore-akantositoz · Levine-Critchley sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200150 | E | validated | |
| ICD-10 | E78.6 | NTBT | attributed | validated |
| ICD-11 | 3A10.Y | NTBT | index | validated |
| MONDO | 0008695 | E | validated | |
| UMLS | C5848062 | E | validated | |
| GARD | 3956 | E | validated | |
| MedDRA | 10081505 | 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 (6):
- ORPHA:263440Neuroacanthocytosis
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:79359Other epidermal disorder
rare skin diseases - ORPHA:79360Other genetic epidermal disease
rare genetic diseases - ORPHA:225713Other metabolic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
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 |
|---|---|---|---|---|---|---|---|---|
| VPS13A | Disease-causing germline mutation(s) in | Assessed | HGNC:1908 | ENSG00000197969 | 605978 | 9q21.2 | vacuolar protein sorting 13 homolog A | 20301561[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
86 annotations · validated 2020-05-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002072 | Chorea | |
| HP:0004305 | Involuntary movements | |
| Frequent (79-30%) | ||
| HP:0030272 | Abnormal erythrocyte enzyme activity | |
| HP:0003438 | Absent Achilles reflex | |
| HP:0001927 | Acanthocytosis | |
| HP:0000708 | Atypical behavior | |
| HP:0002340 | Caudate atrophy | |
| HP:0007078 | Decreased amplitude of sensory action potentials | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0003445 | EMG: neuropathic changes | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002527 | Falls | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0012049 | Laryngeal dystonia | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0002451 | Limb dystonia | |
| HP:0100034 | Motor tics | |
| HP:0100295 | Muscle fiber atrophy | |
| HP:0003198 | Myopathy | |
| HP:0001300 | Parkinsonism | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0100035 | Phonic tics | |
| HP:0002275 | Poor motor coordination | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0001250 | Seizure | |
| HP:0025402 | Square-wave jerks | |
| Occasional (29-5%) | ||
| HP:0025100 | Abnormal hippocampus morphology | |
| HP:0031982 | Abnormal putamen morphology | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0000718 | Aggressive behavior | |
| HP:0000739 | Anxiety | |
| HP:0000741 | Apathy | |
| HP:0001369 | Arthritis | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000643 | Blepharospasm | |
| HP:0002067 | Bradykinesia | |
| HP:0031843 | Bradyphrenia | |
| HP:0003763 | Bruxism | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000722 | Compulsive behaviors | |
| HP:0003380 | Decreased number of peripheral myelinated nerve fibers | |
| HP:0000716 | Depression | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0000712 | Emotional lability | |
| HP:0008110 | Equinovarus deformity | |
| HP:0006913 | Frontal cortical atrophy | |
| HP:0004302 | Functional motor deficit | |
| HP:0012167 | Hair-pulling | |
| HP:0002599 | Head titubation | |
| HP:0012168 | Head-banging | |
| HP:0002240 | Hepatomegaly | |
| HP:0000752 | Hyperactivity | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0001276 | Hypertonia | |
| HP:0025517 | Hypoplastic hippocampus | |
| HP:0000737 | Irritability | |
| HP:0031008 | Lingual dystonia | |
| HP:0002505 | Loss of ambulation | |
| HP:0001268 | Mental deterioration | |
| HP:0031908 | Micrographia | |
| HP:0012048 | Oromandibular dystonia | |
| HP:0011999 | Paranoia | |
| HP:0009049 | Peroneal muscle atrophy | |
| HP:0010808 | Protruding tongue | |
| HP:0002322 | Resting tremor | |
| HP:0100716 | Self-injurious behavior | |
| HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | |
| HP:0025479 | Self-neglect | |
| HP:0000736 | Short attention span | |
| HP:0000514 | Slow saccadic eye movements | |
| HP:0001350 | Slurred speech | |
| HP:0012697 | Small basal ganglia | |
| HP:0030220 | Socially inappropriate behavior | |
| HP:0001744 | Splenomegaly | |
| HP:0012479 | Temporomandibular joint crepitus | |
| HP:0025331 | Upgaze palsy | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration | |
| HP:0031956 | Elevated circulating aspartate aminotransferase concentration | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0012675 | Iron accumulation in brain | |
| HP:0002360 | Sleep abnormality | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 29253590[PMID]_20301561[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2388
- This record as JSON: /data/d/2388.json