Encephalopathy due to prosaposin deficiency
Synonyms: Combined prosaposin deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neurometabolic disease characterized by severe neurologic symptoms including grand mal seizures, massive myoclonic bursts, hypotonia, abnormal ocular movements, dystonia and hepatosplenomegaly. Symptoms appear at or shortly after birth and follow a rapidly progressive fatal course. All patients manifest with lipid accumulation due to lysosomal dysfunction with histologic findings of accumulation of various sphingolipids (e.g., glucosylceramide, ceramide, sulfatides, globotriaosylceramide).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Encephalopathy due to prosaposin deficiency | Combined prosaposin deficiency |
| fr | Encéphalopathie par déficit en prosaposine | Déficit global en prosaposine |
| de | Enzephalopathie durch Prosaposin-Mangel | Prosaposin-Mangel, kombinierter |
| es | Encefalopatía por deficiencia de prosaposina | Deficiencia combinada de prosaposina · Deficiencia de prosaposina combinada |
| it | Encefalopatia da deficit di prosaposina | Deficit combinato di prosaposina |
| nl | Encefalopathie door deficiëntie van prosaposine | Gecombineerde deficiëntie van prosaposine |
| pt | Encefalopatia por deficiência de prosaposina | |
| pl | Encefalopatia z powodu niedoboru prosapozyny | Złożony Niedobór prosapozyny |
| cs | Encefalopatie způsobená deficitem prosaposinu | Kombinovaný deficit prosaposinu |
| uk | Енцефалопатія внаслідок дефіциту просапозину | Комбінований дефіцит просапозину |
| zh | 鞘脂激活蛋白原缺乏所致脑病 | 联合型鞘脂激活蛋白原缺乏 |
| tr | Prosaposin eksikliğine bağlı ensefalopati | Kombine prosaposin eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611721 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.0Y | NTBT | index | validated |
| MONDO | 0012719 | E | validated | |
| UMLS | C4303785 | 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:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:79225Sphingolipidosis
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders - ORPHA:371442Sphingolipidosis with epilepsy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PSAP | Disease-causing germline mutation(s) in | Assessed | HGNC:9498 | ENSG00000197746 | 176801 | 10q22.1 | prosaposin | 1371116[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 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.
HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0001522 | Death in infancy | |
| HP:0001332 | Dystonia | |
| HP:0002240 | Hepatomegaly | |
| HP:0001252 | Hypotonia | |
| HP:0001336 | Myoclonus | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 10 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139406
- This record as JSON: /data/d/139406.json