Sialidosis type 2
Synonyms: Infantile dysmorphic sialidosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sialidosis type 2 | Infantile dysmorphic sialidosis |
| fr | Sialidose type 2 | Sialidose dysmorphique infantile |
| de | Sialidose Typ 2 | Sialidose, dysmorphe infantile |
| es | Sialidosis tipo 2 | Sialidosis dismórfica infantil |
| it | Sialidosi, tipo 2 | |
| nl | Sialidose type 2 | Infantiele dysmorfische sialidose |
| pt | Sialidose tipo 2 | |
| pl | Sialidoza typu 2 | Dziecięca sialidoza dysmorficzna |
| cs | Sialidosa, typ 2 | Infantilní dysmorfická sialidosa |
| uk | Сіалідоз, тип 2 | Інфантильний дисморфічний сіалідоз |
| zh | 唾液酸沉积症2型 | 婴儿型异形唾液酸沉积症 |
| tr | Tip 2 siyalidoz | İnfantil dismorfik siyalidoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256150 | BTNT | validated | |
| OMIM | 256550 | E | validated | |
| ICD-10 | E77.1 | NTBT | attributed | validated |
| ICD-11 | 5C56.21 | NTBT | index | validated |
| MONDO | 0009738 | E | validated | |
| UMLS | C3888317 | E | validated | |
| GARD | 7183 | 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 (6):
- ORPHA:139009Developmental anomaly of metabolic origin
rare developmental anomalies during embryogenesis - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:93448Lysosomal storage disease with skeletal involvement
rare genetic diseases; rare bone diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:309294Sialidosis
rare inborn errors of metabolism; rare genetic diseases; rare ophthalmic disorders
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| NEU1 | ORPHA:93399Juvenile sialidosis type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7758 | ENSG00000204386 | 608272 | 6p21.33 | neuraminidase 1 | 19568825[PMID] |
| NEU1 | ORPHA:93400Congenital sialidosis type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7758 | ENSG00000204386 | 608272 | 6p21.33 | neuraminidase 1 | 14695530[PMID]_19568825[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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.
HPO phenotypes
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001103 | Abnormal macular morphology | |
| HP:0100022 | Abnormality of movement | |
| HP:0001541 | Ascites | |
| HP:0000280 | Coarse facial features | |
| HP:0007957 | Corneal opacity | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000943 | Dysostosis multiplex | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0002240 | Hepatomegaly | |
| HP:0001789 | Hydrops fetalis | |
| HP:0000023 | Inguinal hernia | |
| HP:0002808 | Kyphosis | |
| HP:0000112 | Nephropathy | |
| HP:0010741 | Pedal edema | |
| HP:0004322 | Short stature | |
| HP:0010306 | Short thorax | |
| HP:0001744 | Splenomegaly | |
| HP:0001537 | Umbilical hernia | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000939 | Osteoporosis | |
| HP:0000768 | Pectus carinatum | |
| HP:0001250 | Seizure | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| HP:0001618 | Dysphonia | |
| HP:0002094 | Dyspnea | |
| HP:0001371 | Flexion contracture | |
| HP:0001324 | Muscle weakness | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 23870618[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/87876
- This record as JSON: /data/d/87876.json