Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
Synonyms: Celia disease · Celia encephalopathy · Severe neurodegenerative syndrome due to BSCL2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neurodegenerative disease characterized by severe developmental delay (notably speech delay), progressive psychomotor and cognitive regression (associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy), and mild to severe intellectual disability. Patients present with gait ataxia, spasticity, tretraplegia or tetraparesis, loss of language, tremors as well as early-onset subtle myoclonic seizures that develops into refractory tonic-clonic seizures and other forms of epilepsy as the disease progress.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome | Celia disease · Celia encephalopathy · Severe neurodegenerative syndrome due to BSCL2 deficiency |
| fr | Syndrome d'encéphalopathie progressive-neurodégénérescence sévère-lipodystrophie | Encéphalopathie de Celia · Maladie de Celia · Syndrome neurodégénératif sévère par déficit en BSCL2 |
| de | Progressive Enzephalopathie-schwere Neurodegeneration-Lipodystrophie-Syndrom | Celia-Enzephalopathie · Schweres neurodegeneratives Syndrom durch BSCL2-Mangel |
| es | Síndrome de encefalopatía progresiva-neurodegeneración grave-lipodistrofia | Encefalopatía de Celia · Enfermedad de Celia · Síndrome neurodegenerativo grave por deficiencia de BSCL2 |
| it | Sindrome neurodegenerativa grave con lipodistrofia | Sindrome neurodegenerativa grave da deficit di BSCL2 |
| nl | Progressieve encefalopathie - ernstige neurodegeneratie - lipodystrofie-syndroom | Celia-encefalopathie · Ernstig neurodegeneratief syndroom door BSCL2-deficiëntie · Ziekte van Celia |
| pt | Síndrome de encefalopatia progressiva-neurodegeneração grave-lipodistrofia | Doença Celia · Encefalopatia Celia · Síndrome neurodegenerativo grave devido a deficiência BSCL2 |
| pl | Ciężki zespół neurodegeneracyjny z lipodystrofią | Ciężki zespół neurodegeneracyjny z niedoborem BSCL2 |
| cs | Těžký neurodegenerativní syndrom s lipodystrofií | Těžký neurodegenerativní syndrom způsobený deficitem BSCL2 |
| uk | Тяжкий нейродегенеративний синдром з ліподистрофією | Тяжкий нейродегенеративний синдром внаслідок дефіциту BSCL2 |
| zh | 严重神经退行综合征伴脂肪营养不良 | BSCL2缺乏所致严重神经退行性综合征 |
| tr | Lipodistrofi ile seyreden ağır nörodejeneratif sendrom | BSCL2 eksikliğine bağlı ağır nörodejeneratif sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615924 | E | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| MONDO | 0014402 | E | validated | |
| UMLS | C4750956 | 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:98305Genetic lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BSCL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15832 | ENSG00000168000 | 606158 | 11q12.3 | BSCL2 lipid droplet biogenesis associated, seipin | 23564749[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 27632409[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27632409[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
37 annotations · validated 2017-07-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002448 | Progressive encephalopathy | |
| Very frequent (99-80%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0009064 | Generalized lipodystrophy | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0000855 | Insulin resistance | |
| HP:0007272 | Progressive psychomotor deterioration | |
| HP:0025128 | Reduced intraabdominal adipose tissue | |
| HP:0003758 | Reduced subcutaneous adipose tissue | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001251 | Ataxia | |
| HP:0001348 | Brisk reflexes | |
| HP:0000280 | Coarse facial features | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001397 | Hepatic steatosis | |
| HP:0001347 | Hyperreflexia | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0001336 | Myoclonus | |
| HP:0002275 | Poor motor coordination | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| HP:0001257 | Spasticity | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0002340 | Caudate atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0001394 | Cirrhosis | |
| HP:0002066 | Gait ataxia | |
| HP:0002230 | Generalized hirsutism | |
| HP:0002240 | Hepatomegaly | |
| HP:0000752 | Hyperactivity | |
| HP:0000822 | Hypertension | |
| HP:0002451 | Limb dystonia | |
| HP:0003198 | Myopathy | |
| HP:0002529 | Neuronal loss in central nervous system | |
| HP:0002878 | Respiratory failure | |
| HP:0002273 | Tetraparesis | |
| Very rare (<4-1%) | ||
| HP:0002133 | Status epilepticus | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 23564749[PMID]_27710244[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363400
- This record as JSON: /data/d/363400.json