ORPHA:216866
Classic pantothenate kinase-associated neurodegeneration
Synonyms: NBIA1, classic form · Neurodegeneration with brain iron accumulation type 1, classic form · PKAN, classic form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, childhood-onset neurodegenerative disorder characterized by progressive dystonia, dysarthria, retinal degeneration and abnormal iron accumulation in the globus pallidus and substantia nigra with a characteristic eye-of-the-tiger sign on T2-weighted MRI. Classic PKAN has early onset and rapid progression and accounts for about 75% of cases.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Classic pantothenate kinase-associated neurodegeneration | NBIA1, classic form · Neurodegeneration with brain iron accumulation type 1, classic form · PKAN, classic form |
| fr | Neurodégénérescence par déficit en pantothénate kinase, forme classique | NBIA1, forme classique · Neurodégénérescence avec surcharge cérébrale en fer type 1, forme classique · PKAN, forme classique |
| de | Pantothenat-Kinase-assoziierte Neurodegeneration, klassische Form | NBIA1, klassische Form · Neurodegeneration mit Eisenspeicherung im Gehirn Typ 1, klassische Form · PKAN, klassische Form |
| es | Neurodegeneración asociada a pantotenato quinasa, forma clásica | NBIA1, forma clásica · Neurodegeneración con acumulación de hierro en el cerebro tipo 1, forma clásica · PKAN, forma clásica |
| it | Neurodegenerazione associata a deficit di pantotenato chinasi, forma classica | NBIA1, forma classica · PKAN, forma classica |
| nl | Klassieke pantothenaatkinasegeassocieerde neurodegeneratie | NBIA1, klassieke vorm · Neurodegeneratie met ijzeropstapeling in de hersenen type 1, klassieke vorm · PKAN, klassieke vorm |
| pt | Neurodegenerescência associada a pantotenato cinase clássica | |
| pl | Klasyczna neurodegeneracja związana z kinazą pantotenową | NBIA1, postać klasyczna · Neurodegeneracja z mózgową kumulacją żelaza typ 1, postać klasyczna · PKAN, postać klasyczna |
| cs | Klasická neurodegenerace asociovaná s pantotenát-kinázou | NBIA1, klasická forma · Neurodegenerace s akumulací železa v mozku, typ 1, klasická forma · PKAN, klasická forma |
| uk | Класична пантотенаткіназа-асоційована нейродегенерація | NBIA1, класична форма · Нейродегенерація з накопиченням заліза в мозку, тип 1, класична форма · PKAN, класична форма |
| zh | 经典泛酸激酶相关神经变性 | 经典型神经退行性疾病伴脑铁蓄积1型 |
| tr | Klasik pantotenat kinaz -ilişkili nörodejenerasyon | PKAN, klasik form · NBIA1, klasik form · Beyin demir birikimi tip 1 ile seyreden nörodejenerasyon, klasik form |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 234200 | NTBT | validated | |
| ICD-10 | G23.0 | NTBT | attributed | validated |
| ICD-11 | 5C64.10 | NTBT | index | validated |
| MONDO | 0016304 | E | validated | |
| UMLS | C5679812 | 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:157850Pantothenate kinase-associated neurodegeneration
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:157855HARP syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PANK2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15894 | ENSG00000125779 | 606157 | 20p13 | pantothenate kinase 2 |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
28 annotations · validated 2018-03-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001288 | Gait disturbance | |
| Frequent (79-30%) | ||
| HP:0002533 | Abnormal posturing | |
| HP:0000157 | Abnormality of the tongue | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0100543 | Cognitive impairment | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0002454 | Eye of the tiger anomaly of globus pallidus | |
| HP:0002359 | Frequent falls | |
| HP:0007325 | Generalized dystonia | |
| HP:0001347 | Hyperreflexia | |
| HP:0002540 | Inability to walk | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0012675 | Iron accumulation in brain | |
| HP:0003552 | Muscle stiffness | |
| HP:0000543 | Optic disc pallor | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0001257 | Spasticity | |
| HP:0030051 | Tip-toe gait | |
| Occasional (29-5%) | ||
| HP:0011951 | Aspiration pneumonia | |
| HP:0012735 | Cough | |
| HP:0001263 | Global developmental delay | |
| HP:0000298 | Mask-like facies | |
| HP:0002179 | Opisthotonus | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0000618 | Blindness | |
| HP:0001250 | Seizure | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 23370589[PMID]_20882425[PMID]_20301663[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/216866
- This record as JSON: /data/d/216866.json