Galactosialidosis
Synonyms: Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Galactosialidosis | Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency |
| fr | Galactosialidose | Déficits en neuraminidase et bêta-galactosidase · Syndrome de Goldberg |
| de | Galaktosialidose | Goldberg-Syndrom · Neuraminidase-beta-Galaktosidase-Mangel |
| es | Galactosialidosis | Deficiencia de neuraminidasa beta-galactosidasa · Síndrome de Goldberg |
| it | Galattosialidosi | Deficit di neuraminidasi beta-galattosidasi · Deficit di neuraminidasi e beta-galattosidasi · Sindrome di Goldberg |
| nl | Galactosialidose | Neuraminidasedeficiëntie met bèta-galactosidasedeficiëntie · Syndroom van Goldberg |
| pt | Galactosialidose | Deficiência de neuraminidase beta-galactosidase · Síndrome Goldberg |
| pl | Galaktosialidoza | Niedobór neuraminidazy z niedoborem beta-galaktozydazy · Zespół Goldberga |
| cs | Galaktosialidóza | Kombinovaný deficit neuraminidázy a beta-galaktosidázy · Goldbergův syndrom |
| uk | Галактосіалідоз | Синдром Гольдберга · Дефіцит нейрамінідази з дефіцитом бета-галактозидази |
| zh | 半乳糖唾液酸苷贮积症 | 神经氨酸酶缺乏伴β-半乳糖苷酶缺乏 |
| tr | Galaktosiyalidoz | Goldberg sendromu · Beta-galaktosidaz eksikliği ile seyreden nöraminidaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256540 | E | validated | |
| ICD-10 | E77.1 | NTBT | attributed | validated |
| ICD-11 | 5C56.21 | NTBT | index | validated |
| MONDO | 0009737 | E | validated | |
| MeSH | C536411 | E | validated | |
| UMLS | C0268233 | E | validated | |
| GARD | 3953 | E | validated | |
| MedDRA | 10083306 | 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 (4):
- ORPHA:93448Lysosomal storage disease with skeletal involvement
rare genetic diseases; rare bone diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:79215Oligosaccharidosis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:716427Rare disorder with progressive predominantly macular disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTSA | Disease-causing germline mutation(s) in | Assessed | HGNC:9251 | ENSG00000064601 | 613111 | 20q13.12 | cathepsin A |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.14 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 23915561[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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0010729 | Cherry red spot of the macula | |
| HP:0000280 | Coarse facial features | |
| HP:0007957 | Corneal opacity | |
| HP:0000365 | Hearing impairment | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| HP:0002652 | Skeletal dysplasia | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/351
- This record as JSON: /data/d/351.json