Autosomal recessive ataxia due to PEX10 deficiency
Synonyms: Mild peroxisomal disorder due to PEX10 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare genetic, peroxisomal disease characterized by childhood onset slowly progressive ataxia and axonal motor neuropathy due to PEX 10 deficieny. Marked cerebellar atrophy and pyramidal signs are evident. Patients may present mild cognitive disability, intentional tremor, decreased vibration sense and diabetes mellitus. Additional features may include nystagmus, mydriasis, hyperreflexia and involuntary head movement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive ataxia due to PEX10 deficiency | Mild peroxisomal disorder due to PEX10 deficiency |
| fr | Ataxie autosomique récessive par déficit en PEX10 | Maladie peroxysomale modérée par déficit en PEX10 |
| de | Ataxie, autosomal-rezessive, durch PEX10-Mangel | Milde peroxisomale Störung durch PEX10-Mangel |
| es | Ataxia autosómica recesiva por deficiencia de PEX10 | Trastorno peroxisomal moderado por deficiencia de PEX10 |
| it | Atassia autosomica recessiva da deficit di PEX10 | Disturbo perossisomiale lieve da deficit di PEX10 |
| nl | Autosomaal recessieve ataxie door PEX10-deficiëntie | Milde peroxismale afwijking door PEX10-deficiëntie |
| pt | Ataxia autossómica recessiva por deficiência PEX10 | |
| pl | Autosomalna recesywna ataksja z powodu niedoboru PEX10 | Łagodne zaburzenia peroksysomalne z powodu niedoboru PEX10 |
| cs | Autozomálně recesivní ataxie způsobená deficitem PEX10 | Mírná peroxisomální porucha způsobená deficitem PEX10 |
| uk | Аутосомно-рецесивна атаксія внаслідок дефіциту PEX10 | Легкий пероксисомний розлад внаслідок дефіциту PEX10 |
| zh | PEX10基因缺乏所致常染色体隐性遗传性共济失调 | PEX10基因缺乏所致轻型过氧化物酶病 |
| tr | PEX10 eksikliğine bağlı otozomal resesif ataksi | PEX10 eksikliğine bağlı hafif peroksismal bozukluk |
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 | 0016614 | E | validated | |
| UMLS | C5679614 | 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 |
|---|---|---|---|---|---|---|---|---|
| PEX10 | Disease-causing germline mutation(s) in | Assessed | HGNC:8851 | ENSG00000157911 | 602859 | 1p36.32 | peroxisomal biogenesis factor 10 | 20695019[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 27230853[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27230853[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
19 annotations · validated 2018-05-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007002 | Motor axonal neuropathy | |
| HP:0002073 | Progressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0010965 | Abnormal circulating phytanic acid concentration | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0100275 | Diffuse cerebellar atrophy | |
| HP:0001260 | Dysarthria | |
| HP:0007772 | Impaired smooth pursuit | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002070 | Limb ataxia | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0002078 | Truncal ataxia | |
| HP:0008167 | Very long chain fatty acid accumulation | |
| Occasional (29-5%) | ||
| HP:0002457 | Abnormal head movements | |
| HP:0001347 | Hyperreflexia | |
| HP:0011499 | Mydriasis | |
| HP:0005978 | Type II diabetes mellitus | |
| Very rare (<4-1%) | ||
| HP:0001761 | Pes cavus | |
| Excluded (0%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0000657 | Oculomotor apraxia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28320181[PMID]_27230853[PMID]_20695019[PMID]_8982949[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247815
- This record as JSON: /data/d/247815.json