Sialuria
Synonyms: Sialuria, French type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
A rare disorder of sialic acid metabolism characterized by excretion of large quantities of free sialic acid (predominantly N-acetylneuraminic acid without any morphologic evidence of storage within any subcellular organelle), mildly coarse facial features and hepatosplenomegaly. Growth and development are rather normal, however some affected individuals were reported to have moderate developmental delay, slight motor delay and mild intellectual impairment. Additional clinical features may involve macrocephaly, mild small airway obstruction, frequent upper respiratory tract infections, transient failure to thrive, seizures and sleep apnea. Signs and symptoms can be transient, especially in infancy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sialuria | Sialuria, French type |
| fr | Sialurie | Sialurie type francais |
| de | Sialurie | Sialurie, französischer Typ |
| es | Sialuria | Sialuria tipo francés |
| it | Sialuria | Sialuria, tipo francese |
| nl | Sialurie | Sialurie, Frans type |
| pt | Sialúria | Sialúria tipo francês |
| pl | Sialuria | Sialuria, typ francuski |
| cs | Sialurie | Sialurie, francouzský typ |
| uk | Сіалурія | Сіалурія, французький тип |
| zh | 唾液酸尿症 | 唾液酸尿症，法国型 |
| tr | Siyalüri | Sialuria, Fransız tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269921 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C56.4 | NTBT | index | validated |
| MONDO | 0010028 | E | validated | |
| UMLS | C0342853 | E | validated | |
| GARD | 4865 | 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 (1):
- ORPHA:309319Disorder of sialic acid metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNE | Disease-causing germline mutation(s) in | Assessed | HGNC:23657 | ENSG00000159921 | 603824 | 9p13.3 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | 20301343[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 11486897[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11486897[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
36 annotations · validated 2017-03-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0001999 | Abnormal facial shape | |
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0012103 | Abnormality of the mitochondrion | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0001081 | Cholelithiasis | |
| HP:0000280 | Coarse facial features | |
| HP:0000943 | Dysostosis multiplex | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000286 | Epicanthus | |
| HP:0002574 | Episodic abdominal pain | |
| HP:0002474 | Expressive language delay | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002240 | Hepatomegaly | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0002705 | High, narrow palate | |
| HP:0001609 | Hoarse voice | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0000316 | Hypertelorism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001382 | Joint hypermobility | |
| HP:0001847 | Long hallux | |
| HP:0000369 | Low-set ears | |
| HP:0002354 | Memory impairment | |
| HP:0000629 | Periorbital fullness | |
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0011220 | Prominent forehead | |
| HP:0001250 | Seizure | |
| HP:0010535 | Sleep apnea | |
| HP:0000319 | Smooth philtrum | |
| HP:0008443 | Spinal deformities | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0002781 | Upper airway obstruction | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001263 | Global developmental delay | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 11486897[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3166
- This record as JSON: /data/d/3166.json