ORPHA:329284
Beta-propeller protein-associated neurodegeneration
Synonyms: BPAN · NBIA5 · Neurodegeneration with brain iron accumulation type 5 · SENDA · Static encephalopathy of childhood with neurodegeneration in adulthood
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Childhood
- Status
- active
Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Beta-propeller protein-associated neurodegeneration | BPAN · NBIA5 · Neurodegeneration with brain iron accumulation type 5 · SENDA · Static encephalopathy of childhood with neurodegeneration in adulthood |
| fr | Neurodégénérescence associée à une protéine bêta-propeller | BPAN · Encéphalopathie statique de l'enfant avec neurodégénérescence chez l'adulte · NBIA5 · Neurodégénérescence avec surcharge cérébrale en fer type 5 · SENDA |
| de | Beta-propeller-Protein-assoziierte Neurodegeneration | SENDA · Statische Enzephalopathie der Kindheit mit Neurodegeneration im Erwachsenenalter · BPAN · NBIA5 · Neurodegeneration mit Eisenspeicherung im Gehirn Typ 5 |
| es | Neurodegeneración asociada a la proteína beta-propeller | BPAN · Encefalopatía estática de la infancia con neurodegeneración en el adulto · NBIA5 · Neurodegeneración con acumulación de hierro en el cerebro tipo 5 · SENDA |
| it | Neurodegenerazione associata alla proteina beta-propeller | BPAN · Encefalopatia stastica dell'infanzia con neurodegenerazione nell'età adulta · NBIA5 · Neurodegenerazione con accumulo cerebrale di ferro, tipo 5 · SENDA |
| nl | Neurodegeneratie geassocieerd met bèta-propellerproteïne | BPAN · NBIA5 · Neurodegeneratie met ijzeropstapeling in hersenen type 5 · SENDA · Statische encefalopathie in de kindertijd met neurodegeneratie in de volwassenheid |
| pt | Neurodegenerescência associada a proteína hélice-beta | |
| pl | Neurodegeneracja związana z białkiem typu beta-properell | BPAN · Encefalopatia statyczna wieku dziecięcego z neurodegeneracją w wieku dorosłym · NBIA5 · Neurodegeneracja z gromadzeniem żelaza w mózgu typu 5 · SENDA |
| cs | Statická encefalopatie v dětství s neurodegenerací v dospělosti | BPAN · NBIA5 · SENDA · Neurodegenerace s akumulací železa v mozku, typ 5 |
| uk | Нейродегенерація, асоційована з бета-пропелерним протеїном | BPAN · NBIA5 · Нейродегенерація з накопиченням заліза в мозку, тип 5 · SENDA · Статична енцефалопатія дитячого віку з нейродегенерацією в дорослому віці |
| zh | 大脑铁沉积型神经退行性病变5型 | 儿童静态脑病伴成人起病神经退行性变 |
| tr | Beta-pervane proteini -ilişkili nörodejenerasyon | BPAN · NBIA5 · SENDA · Beyin demir birikimi ile nörodejenerasyon tip 5 · Erişkinlikte nörodejenerasyonlu çocukluk çağı statik ensefalopatisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300894 | E | validated | |
| ICD-10 | G23.0 | NTBT | attributed | validated |
| MONDO | 0010476 | E | validated | |
| UMLS | C3550973 | E | validated | |
| GARD | 12570 | 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 (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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WDR45 | Disease-causing germline mutation(s) in | Assessed | HGNC:28912 | ENSG00000196998 | 300526 | Xp11.23 | WD repeat domain 45 | 23435086[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 68 cases | Worldwide | Case(s) | Validated | 29445477[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29445477[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
22 annotations · validated 2018-04-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0002067 | Bradykinesia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0000726 | Dementia | |
| HP:0001332 | Dystonia | |
| HP:0000743 | Frontal release signs | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0012675 | Iron accumulation in brain | |
| HP:0012678 | Iron accumulation in substantia nigra | |
| HP:0001300 | Parkinsonism | |
| HP:0002465 | Poor speech | |
| HP:0002448 | Progressive encephalopathy | |
| HP:0002063 | Rigidity | |
| HP:0002360 | Sleep abnormality | |
| HP:0002313 | Spastic paraparesis | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000648 | Optic atrophy | |
| HP:0001250 | Seizure | |
Annotation source: 22892189[PMID]_23212724[PMID]_18981035[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329284
- This record as JSON: /data/d/329284.json