Sialidosis
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sialidosis | |
| fr | Sialidose | |
| de | Sialidose | |
| es | Sialidosis | |
| it | Sialidosi | |
| nl | Sialidose | |
| pt | Sialidose | |
| pl | Sialidoza | |
| cs | Sialidóza | |
| uk | Сіалідоз | |
| zh | 唾液酸沉积病 | |
| tr | Siyalidoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C56.21 | NTBT | index | validated |
| MONDO | 0017734 | E | validated | |
| MONDO | 17734 | E | validated | |
| UMLS | C0268226 | E | validated | |
| MedDRA | 10058800 | 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:79215Oligosaccharidosis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.05 / 100 000 | Europe | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.07 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.05 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.02 / 100 000 | Australia | Value and class | Validated | 9918480[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Europe | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309294
- This record as JSON: /data/d/309294.json