ORPHA:2971
Peroxisomal acyl-CoA oxidase deficiency
Synonyms: Pseudo-NALD · Pseudo-neonatal adrenoleukodystrophy · Pseudoadrenoleukodystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Peroxisomal acyl-CoA oxidase deficiency | Pseudo-NALD · Pseudo-neonatal adrenoleukodystrophy · Pseudoadrenoleukodystrophy |
| fr | Déficit en acyl-CoA oxydase | |
| de | Acyl-CoA-Oxidase-Mangel, peroxisomaler | Acyl-CoA-Oxydase-Mangel · Pseudo-NALD · Pseudoadrenoleukodystrophie · Pseudoadrenoleukodystrophie, neonatale |
| es | Deficiencia de acil CoA oxidasa peroxisomal | Pseudo-NALD · Pseudoadrenoleucodistrofia · Pseudoadrenoleucodistrofia neonatal |
| it | Deficit perossisomiale di acil-CoA ossidasi | Pseudo-NALD · Pseudoadrenoleucodistrofia · Pseudoadrenoleucodistrofia neonatale |
| nl | Peroxisomale acyl-CoA-oxidasedeficiëntie | Pseudo-neonatale adrenoleukodystrofie · Pseudoadrenoleukodystrofie · Pseudo-NALD |
| pt | Deficiência de acil-CoA oxidase peroxissomal | Pseudo-adrenoleucodistrofia |
| pl | Peroksysomalny Niedobór oksydazy acetylo-CoA | Pseudoadrenoleukodystrofia · Pseudo-NALD · Pseudo-noworodkowa adrenoleukodystrofia |
| cs | Deficit peroxizomální acyl-CoA oxidázy | Pseudo-NALD · Pseudo-novorozenecká adrenoleukodystrofie · Pseudoadrenoleukodystrofie |
| uk | Дефіцит пероксисомальної ацил-КоА-оксидази | Псевдоадренолейкодистрофія · Псевдо-НАЛД · Псевдонеонатальна адренолейкодистрофія |
| zh | 过氧化物酶体酰基辅酶A氧化酶缺乏症 | 假性肾上腺脑白质营养不良 |
| tr | Peroksizomal asil-CoA oksidaz eksikliği | Psödo-NALD · Psödoadrenolökodistrofi · Psödo-yenidoğan adrenolökodistrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 264470 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C57.1 | NTBT | index | validated |
| MONDO | 0009919 | E | validated | |
| MeSH | C536662 | E | validated | |
| UMLS | C1849678 | E | validated | |
| GARD | 4543 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:79188Peroxisomal beta-oxidation disorder
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders - ORPHA:225686Peroxisomal disease with epilepsy
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACOX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:119 | ENSG00000161533 | 609751 | 17q25.1 | acyl-CoA oxidase 1 | 22508517[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
6
HPO phenotypes
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0012639 | Abnormal nervous system morphology | |
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0002376 | Developmental regression | |
| HP:0002353 | EEG abnormality | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0000668 | Hypodontia | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0001522 | Death in infancy | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0002240 | Hepatomegaly | |
| HP:0000316 | Hypertelorism | |
| HP:0000369 | Low-set ears | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0001161 | Hand polydactyly | |
| HP:0001276 | Hypertonia | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2971
- This record as JSON: /data/d/2971.json