ORPHA:157850
Pantothenate kinase-associated neurodegeneration
Synonyms: Hallervorden-Spatz syndrome · NBIA1 · Neurodegeneration with brain iron accumulation type 1 · PKAN
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare 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. Forms include classic disease with early onset and rapid progression and atypical disease with later onset and slower progression.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pantothenate kinase-associated neurodegeneration | Hallervorden-Spatz syndrome · NBIA1 · Neurodegeneration with brain iron accumulation type 1 · PKAN |
| fr | Neurodégénérescence par déficit en pantothénate kinase | NBIA1 · Neurodégénérescence avec surcharge cérébrale en fer type 1 · PKAN · Syndrome de Hallervorden-Spatz |
| de | Pantothenat-Kinase-assoziierte Neurodegeneration | Hallervorden-Spatz-Syndrom · NBIA1 · Neurodegeneration mit Eisenspeicherung im Gehirn Typ 1 · PKAN |
| es | Neurodegeneración asociada a pantotenato-quinasa | NBIA1 · Neurodegeneración con acúmulo cerebral de hierro tipo 1 · PKAN · Síndrome de Hallervorden-Spatz |
| it | Neurodegenerazione associata a pantotenato chinasi | NBIA1 · Neurodegenerazione con deposito cerebrale di ferro, tipo 1 · PKAN · Sindrome di Hallervorden-Spatz |
| nl | Pantothenaatkinasegeassocieerde neurodegeneratie | NBIA1 · Neurodegeneratie met ijzerstapeling in de hersenen type 1 · PKAN · Syndroom van Hallervorden-Spatz |
| pt | Neurodegenerescência associada a pantotenato quinase | |
| pl | Neurodegeneracja związana z kinazą pantotenianu | NBIA1 · Neurodegeneracja z magazynowaniem żelaza w mózgu typu 1 · PKAN · Zespół Hallervordena i Spatza |
| cs | Neurodegenerace spojená s pantotenátkinázou | NBIA1 · Neurodegenerace spojená s akumulací železa, typ 1 · PKAN · Hallervordenův-Spatzův syndrom · Hallervorden-Spatzův syndrom |
| uk | Пантотенаткіназа-асоційована нейродегенерація | Синдром Халлервордена-Шпатца · NBIA1 · Нейродегенерація з накопиченням заліза в мозку, тип 1 · PKAN |
| zh | 大脑铁沉积型神经退行性病变1型 | 神经退行性病变伴有脑铁沉积1型 |
| tr | Pantotenat kinaz-ilişkili nörodejenerasyon | PKAN · NBIA1 · Hallervorden-Spatz sendromu · Beyin demir birikimi tip 1 ile seyreden nörodejenerasyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 234200 | E | validated | |
| ICD-10 | G23.0 | E | specific | validated |
| ICD-11 | 5C64.10 | NTBT | index | validated |
| MONDO | 0009319 | E | validated | |
| MeSH | D006211 | E | validated | |
| UMLS | C0018523 | E | validated | |
| GARD | 6564 | 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 (5):
- ORPHA:309833Disorder of other vitamins and cofactors metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:352306Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:263440Neuroacanthocytosis
rare genetic diseases; rare neurological diseases - ORPHA:385Neurodegeneration with brain iron accumulation
rare genetic diseases; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| PANK2 | ORPHA:216866Classic pantothenate kinase-associated neurodegeneration | Disease-causing germline mutation(s) in | Assessed | HGNC:15894 | ENSG00000125779 | 606157 | 20p13 | pantothenate kinase 2 | |
| PANK2 | ORPHA:216873Atypical pantothenate kinase-associated neurodegeneration | Disease-causing germline mutation(s) in | Assessed | HGNC:15894 | ENSG00000125779 | 606157 | 20p13 | pantothenate kinase 2 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.15 / 100 000 | Europe | Value and class | Validated | 22027213[PMID]_[EXPERT]_ 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
60 annotations · validated 2021-01-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0001266 | Choreoathetosis | |
| HP:0001332 | Dystonia | |
| HP:0001288 | Gait disturbance | |
| HP:0002505 | Loss of ambulation | |
| HP:0000546 | Retinal degeneration | |
| HP:0001257 | Spasticity | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0008181 | Abetalipoproteinemia | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0001927 | Acanthocytosis | |
| HP:0000708 | Atypical behavior | |
| HP:0002483 | Bulbar signs | |
| HP:0012179 | Craniofacial dystonia | |
| HP:0001260 | Dysarthria | |
| HP:0002454 | Eye of the tiger anomaly of globus pallidus | |
| HP:0012678 | Iron accumulation in substantia nigra | |
| HP:0031959 | Leg dystonia | |
| HP:0002451 | Limb dystonia | |
| HP:0009763 | Limb pain | |
| HP:0001268 | Mental deterioration | |
| HP:0000662 | Nyctalopia | |
| HP:0000938 | Osteopenia | |
| HP:0001300 | Parkinsonism | |
| HP:0007994 | Peripheral visual field loss | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0012045 | Retinal flecks | |
| HP:0002063 | Rigidity | |
| HP:0000510 | Rod-cone dystrophy | |
| Occasional (29-5%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000618 | Blindness | |
| HP:0011504 | Bull's eye maculopathy | |
| HP:0000722 | Compulsive behaviors | |
| HP:0000726 | Dementia | |
| HP:0000716 | Depression | |
| HP:0032014 | Dysmetric vertical saccades | |
| HP:0000712 | Emotional lability | |
| HP:0003084 | Fractures of the long bones | |
| HP:0001263 | Global developmental delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0000619 | Impaired convergence | |
| HP:0100710 | Impulsivity | |
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| HP:0000648 | Optic atrophy | |
| HP:0031814 | Palilalia | |
| HP:0007132 | Pallidal degeneration | |
| HP:0001152 | Saccadic smooth pursuit | |
| HP:0001350 | Slurred speech | |
| HP:0009088 | Speech articulation difficulties | |
| HP:0025402 | Square-wave jerks | |
| HP:0031937 | Tachylalia | |
| HP:0100033 | Tics | |
| HP:0030051 | Tip-toe gait | |
| HP:0011916 | Toe extensor amyotrophy | |
| HP:0001123 | Visual field defect | |
| Very rare (<4-1%) | ||
| HP:0002080 | Intention tremor | |
| HP:0001345 | Psychotic mentation | |
| HP:0001250 | Seizure | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 29844889[PMID]_30804242[PMID]_20301663[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157850
- This record as JSON: /data/d/157850.json