Alkaline ceramidase 3 deficiency
Synonyms: ACER3-related early childhood-onset progressive leukodystrophy · Leukodystrophy due to alkaline ceramidase 3 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy, and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature, and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alkaline ceramidase 3 deficiency | ACER3-related early childhood-onset progressive leukodystrophy · Leukodystrophy due to alkaline ceramidase 3 deficiency |
| fr | Déficit en céramidase alcaline 3 | Déficit en alkaline ceramidase 3 · Leucodystrophie par déficit en alkaline ceramidase 3 · Leucodystrophie par déficit en céramidase alcaline 3 · Leucodystrophie progressive associée à ACER3 |
| de | Alkalische Ceramidase 3-Mangel | Leukodystrophie durch alkalische Ceramidase 3-Mangel · Leukodystrophie, progressive, mit Beginn in der frühen Kindheit, ACER3-assoziierte |
| es | Deficiencia de ceramidasa alcalina 3 | Leucodistrofia por deficiencia de ceramidasa alcalina 3 · Leucodistrofia progresiva de inicio en la infancia temprana asociada a ACER3 |
| it | Deficit di ceramidasi alcalina 3 | |
| nl | Alkalisch ceramidase 3-deficiëntie | ACER3-gerelateerde progressieve leukodystrofie met aanvang in de vroege kindertijd · Leukodystrofie als gevolg van alkalisch ceramidase 3-deficiëntie |
| pt | Deficiência de ceramidase 3 alcalina | |
| pl | Niedobór ceramidazy alkalicznej 3 | Lekodystrofia z powodu niedoboru ceramidazy alkalinowej 3 |
| cs | Deficit alkalické ceramidázy 3 | Leukodystrophy due to alkaline ceramidase 3 deficiency · ACER3-related early childhood-onset progressive leukodystrophy · Leukodystrofie způsobená deficitem alkalické ceramidázy 3 · Progresivní leukodystrofie v raném dětství související s ACER3 |
| uk | Дефіцит лужної церамідази 3 | ACER3-асоційована прогресуюча лейкодистрофія, що починається в ранньому дитячому віці · Лейкодистрофія внаслідок дефіциту лужної церамідази 3 |
| zh | 碱性神经酰胺酶3缺陷 | ACER3相关的儿童早期发病的进行性脑白质营养不良症 |
| tr | Alkali seramidaz 3 eksikliği | Alkalin seramidaz 3 eksikliğine bağlı lökodistrofi · ACER3-ilişkili erken çocukluk dönemi başlangıçlı ilerleyici lökodistrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617762 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| MONDO | 0044718 | E | validated | |
| UMLS | C4540358 | 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 (2):
- ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACER3 | Disease-causing germline mutation(s) in | Assessed | HGNC:16066 | ENSG00000078124 | 617036 | 11q13.5 | alkaline ceramidase 3 | 26792856[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 26792856[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26792856[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/502444
- This record as JSON: /data/d/502444.json