ORPHA:309334
Salla disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
This disease is described under Free sialic acid storage disease
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Salla disease | |
| fr | Maladie de Salla | |
| de | Salla-Krankheit | |
| es | Enfermedad de Salla | |
| it | Malattia di Salla | |
| nl | Ziekte van Salla | |
| pt | Doença de Salla | |
| pl | Choroba Salla | |
| cs | Nemoc Salla | |
| uk | Хвороба Салла | |
| zh | 唾液酸贮积病 | |
| tr | Salla hastalığı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604369 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| MONDO | 0011449 | E | validated | |
| UMLS | C1096903 | E | validated | |
| MedDRA | 10067531 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:834Free sialic acid storage disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC17A5 | Disease-causing germline mutation(s) in | Assessed | HGNC:10933 | ENSG00000119899 | 604322 | 6q13 | solute carrier family 17 member 5 | 20301643[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.59 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 16584062[PMID]_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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309334
- This record as JSON: /data/d/309334.json