ORPHA:352
Galactosemia
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a wide range of variable manifestations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Galactosemia | |
| fr | Galactosémie | |
| de | Galaktosämie | |
| es | Galactosemia | |
| it | Galattosemia | |
| nl | Galactosemie | |
| pt | Galactosemia | |
| pl | Galaktozemia | |
| cs | Galaktosémie | |
| uk | Галактоземія | |
| zh | 半乳糖血症 | |
| tr | Galaktozemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C51.4Y | NTBT | index | validated |
| MONDO | 0018116 | E | validated | |
| MONDO | 18116 | E | validated | |
| MeSH | D005693 | E | validated | |
| UMLS | C0016952 | E | validated | |
| GARD | 2424 | E | validated | |
| MedDRA | 10017604 | 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:308467Disorder of galactose metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.3 / 100 000 | United States | Value and class | Validated | 22766612[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Annual incidence | 1-9 / 100 000 | 2.1 / 100 000 | Europe | Value and class | Validated | [EXPERT]_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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352
- This record as JSON: /data/d/352.json