Autosomal recessive ataxia due to PEX16 deficiency
Synonyms: Mild peroxisomal disorder due to PEX16 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare genetic, peroxisomal disease characterized by chilhood onset progressive spastic paraparesis and ataxia due to PEX 16 deficieny. Additional clinical features include demyelinating and peripheral neuropathies, progressive unsteady gait and limb tremor, dystonia, marked lower limb spasticity, upper limb ataxia, involuntary facial movements, speech disturbance (including cerebellar dysarthria) and cataract. All patients need wheelchair in different periods of their lives depending on the severity of their condition. Cognitive functions are mostly preserved (slow deterioration over time were observed in few cases).
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive ataxia due to PEX16 deficiency | Mild peroxisomal disorder due to PEX16 deficiency |
| fr | Ataxie autosomique récessive par déficit en PEX16 | Maladie peroxysomale modérée par déficit en PEX16 |
| de | Ataxie, autosomal-rezessive, PEX16-assoziierte | Milde peroxisomale Störung durch PEX16-Defizienz |
| es | Ataxia autosómica recesiva por deficiencia de PEX16 | Trastorno peroxisomal leve por deficiencia de PEX16 |
| it | Atassia autosomica recessiva da deficit di PEX16 | Malattia perossisomiale lieve da deficit di PEX16 |
| nl | Autosomaal recessieve ataxie door PEX16-deficiëntie | Milde peroxisomale stoornis door PEX16-deficiëntie |
| pt | Ataxia autossómica recessiva por deficiência PEX16 | Doença peroxissomal ligeira por deficiência PEX16 |
| pl | Autosomalna recesywna ataksja związana z niedoborem PEX16 | = en |
| cs | Autozomálně recesivní ataxie způsobená deficitem PEX16 | = en |
| uk | Аутосомно-рецесивна атаксія, зумовлена дефіцитом PEX16 | Легкий пероксисомний розлад внаслідок дефіциту PEX16 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | attributed | validated |
| MONDO | 0957442 | E | validated | |
| UMLS | C5816797 | 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 (3):
- ORPHA:98096Autosomal recessive metabolic cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:68373Peroxisomal disease
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PEX16 | Disease-causing germline mutation(s) in | Assessed | HGNC:8857 | ENSG00000121680 | 603360 | 11p11.2 | peroxisomal biogenesis factor 16 | 26644994[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/642954
- This record as JSON: /data/d/642954.json