ORPHA:812
Sialidosis type 1
Synonyms: Cherry-red spot-myoclonus syndrome · Lipomucopolysaccharidosis · Normomorphic sialidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sialidosis type 1 | Cherry-red spot-myoclonus syndrome · Lipomucopolysaccharidosis · Normomorphic sialidosis |
| fr | Sialidose type 1 | Lipomucopolysaccharidose · Sialidose normomorphique · Syndrome "cherry-red spot-myoclonus" · Syndrome myoclonies-taches rouge cerise |
| de | Sialidose Typ 1 | Kirschroter Fleck-Myoklonus-Syndrom · Lipomukopolysaccharidose · Sialidose, normomorphe |
| es | Sialidosis tipo 1 | Lipomucopolisacaridosis · Sialidosis normomórfica · Síndrome de mioclono con mancha rojo cereza · Síndrome de mioclonus con mancha rojo cereza |
| it | Sialidosi, tipo 1 | Lipomucopolisaccaridosi · Sialidosi normomorfa · Sindrome macchia rosso ciliegia-mioclono |
| nl | Sialidose type 1 | Kersrode vlek - myoclonus-syndroom · Lipomucopolysacharidose · Normomorfe sialidose |
| pt | Sialidose tipo 1 | Deficiência de neuraminidase · Mucolipidose tipo 1 |
| pl | Sialidoza typu 1 | Lipomukopolisacharydoza · Zespół skurczów mioklonicznych z wiśniowymi plamkami |
| cs | Sialidóza, typ I | Lipomukopolysacharidóza · Normomorfní sialidóza · Syndrom zahrnující třešňově červenou skvrnu a myoklonus |
| uk | Сіалідоз, тип 1 | Синдром вишнево-червоної плями-міоклонусу · Ліпомукополісахаридоз · Нормоморфний сіалідоз |
| zh | 唾液酸贮积症1型 | 樱桃红斑肌阵挛综合征 |
| tr | Sialidoz tip 1 | Normomorfik siyalidoz · Lipomukopolisakkaridoz · Kiraz kırmızısı nokta miyoklonus sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256550 | NTBT | validated | |
| ICD-10 | E77.1 | NTBT | attributed | validated |
| ICD-11 | 5C56.21 | NTBT | index | validated |
| MONDO | 0019346 | E | validated | |
| UMLS | C0023806 | E | validated | |
| GARD | 7639 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:309294Sialidosis
rare inborn errors of metabolism; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NEU1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7758 | ENSG00000204386 | 608272 | 6p21.33 | neuraminidase 1 | 14517945[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET |
| Prevalence at birth | <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.
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HPO phenotypes
42 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0003355 | Aminoaciduria | |
| HP:0001251 | Ataxia | |
| HP:0010729 | Cherry red spot of the macula | |
| HP:0000280 | Coarse facial features | |
| HP:0007957 | Corneal opacity | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000943 | Dysostosis multiplex | |
| HP:0001288 | Gait disturbance | |
| HP:0000962 | Hyperkeratosis | |
| HP:0003461 | Increased urinary O-linked sialopeptides | |
| HP:0001336 | Myoclonus | |
| HP:0000639 | Nystagmus | |
| HP:0000768 | Pectus carinatum | |
| HP:0000529 | Progressive visual loss | |
| HP:0000488 | Retinopathy | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0010306 | Short thorax | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001350 | Slurred speech | |
| HP:0001744 | Splenomegaly | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0012061 | Urinary excretion of sialylated oligosaccharides | |
| HP:0011276 | Vascular skin abnormality | |
| HP:0000505 | Visual impairment | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0002353 | EEG abnormality | |
| HP:0002007 | Frontal bossing | |
| HP:0100790 | Hernia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001324 | Muscle weakness | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0000518 | Cataract | |
| HP:0002808 | Kyphosis | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/812
- This record as JSON: /data/d/812.json