COASY protein-associated neurodegeneration
Synonyms: CoPAN · NBIA6 · Neurodegeneration with brain iron accumulation due to COASY mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | COASY protein-associated neurodegeneration | CoPAN · NBIA6 · Neurodegeneration with brain iron accumulation due to COASY mutation |
| fr | Neurodégénérescence associée à la protéine COASY | CoPAN · NBIA6 · Neurodégénérescence avec surcharge cérébrale en fer due à des mutations de COASY |
| de | COASY-Protein-assoziierte Neurodegeneration | CoPAN · NBIA6 · Neurodegeneration mit Eisenspeicherung im Gehirn durch COASY-Genmutation |
| es | Neurodegeneración asociada con la proteína COASY | NBIA6 · Neurodegeneración con acumulación cerebral de hierro por una mutación en el gen COASY · CoPAN |
| it | Neurodegenerazione associata alla proteina COASY | CoPAN · NBIA6 · Neurodegenerazione con accumulo cerebrale di ferro da mutazione di COASY |
| nl | COASY-proteïnegeassocieerde neurodegeneratie | CoPAN · NBIA6 · Neurodegeneratie met ijzerstapeling in de hersenen als gevolg van COASY-mutatie |
| pt | Neurodegenerescência associada à proteína COASY | |
| pl | Neurodegeneracja związana z białkiem COASY | CoPAN · NBIA6 · Neurodegeneracja z magazynowaniem żelaza w mózgu z powodu mutacji COASY |
| cs | Neurodegenerace asociovaná COASY proteinem | CoPAN · NBIA6 · Neurodegenerace s akumulací železa v mozku, způsobená mutacemi v genu COASY |
| uk | COASY протеїн-асоційована нейродегенерація | CoPAN · NBIA6 · Нейродегенерація з накопиченням заліза в мозку через мутацію COASY |
| zh | COASY蛋白相关神经退行性疾病 | COASY突变所致神经退行性变伴脑铁积聚 |
| tr | COASY protein-ilişkili nörodejenerasyon | CoPAN · NBIA6 · COASY mutasyonuna bağlı beyin demir birikimi ile seyreden nörodejenerasyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615643 | E | validated | |
| ICD-10 | G23.0 | NTBT | attributed | validated |
| MONDO | 0014290 | E | validated | |
| UMLS | C4517377 | E | validated | |
| GARD | 12571 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:385Neurodegeneration with brain iron accumulation
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COASY | Disease-causing germline mutation(s) in | Assessed | HGNC:29932 | ENSG00000068120 | 609855 | 17q21.2 | Coenzyme A synthase | 24360804[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24360804[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24360804[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.
HPO phenotypes
13 annotations · validated 2017-11-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002339 | Abnormal caudate nucleus morphology | |
| HP:0010994 | Abnormal corpus striatum morphology | |
| HP:0002453 | Abnormal globus pallidus morphology | |
| HP:0010663 | Abnormality of thalamus morphology | |
| HP:0100543 | Cognitive impairment | |
| HP:0000722 | Compulsive behaviors | |
| HP:0001260 | Dysarthria | |
| HP:0002454 | Eye of the tiger anomaly of globus pallidus | |
| HP:0001288 | Gait disturbance | |
| HP:0012048 | Oromandibular dystonia | |
| HP:0001300 | Parkinsonism | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0002313 | Spastic paraparesis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 23447832[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397725
- This record as JSON: /data/d/397725.json