ORPHA:697734
ST3GAL3-CDG
Synonyms: ST3GAL3-related carbohydrate deficient glycoprotein syndrome · ST3GAL3-related congenital disorder of glycosylation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ST3GAL3-CDG | ST3GAL3-related carbohydrate deficient glycoprotein syndrome · ST3GAL3-related congenital disorder of glycosylation |
| fr | ST3GAL3-CDG | Anomalie congénitale de la glycosylation associée à ST3GAL3 · Syndrome des glycoprotéines déficientes en hydrates de carbone associé à ST3GAL3 |
| de | ST3GAL3-CDG | Kohlenhydrat-defizientes Glykoprotein-Syndrom, ST3GAL3-assoziiertes · ST3GAL3-assoziierte kongenitale Glykosylierungsstörung |
| es | ST3GAL3-CDG | Síndrome de glicoproteínas deficientes en carbohidratos asociado a ST3GAL3 · Trastorno congénito de la glicosilación asociado a ST3GAL3 |
| it | ST3GAL3-CDG | Sindrome da glicoproteina carente in carboidrati correlata a ST3GAL3 · Disturbo congenito della glicosilazione correlato a ST3GAL3 |
| nl | ST3GAL3-CDG | ST3GAL3-gerelateerd koolhydraatdeficiënt glycoproteïne syndroom · ST3GAL3-gerelateerde congenitale glycosylatiestoornis |
| pt | ST3GAL3-CDG | |
| pl | ST3GAL3-CDG | = en |
| cs | ST3GAL3-CDG | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611090 | BTNT | validated | |
| OMIM | 615006 | BTNT | validated | |
| ICD-11 | 5C54.0 | NTBT | attributed | 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 (3):
- ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:309347Disorder of protein N-glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ST3GAL3 | Disease-causing germline mutation(s) in | Assessed | HGNC:10866 | ENSG00000126091 | 606494 | 1p34.1 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | 37067065[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 24 cases | Worldwide | Case(s) | 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.
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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/697734
- This record as JSON: /data/d/697734.json