ORPHA:370921
STT3A-CDG
Synonyms: CDG syndrome type Iw · CDG-Iw · CDG1W · Congenital disorder of glycosylation type 1w · Congenital disorder of glycosylation type Iw
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene <i>STT3A</i> (11q23.3).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | STT3A-CDG | CDG syndrome type Iw · CDG-Iw · CDG1W · Congenital disorder of glycosylation type 1w · Congenital disorder of glycosylation type Iw |
| fr | STT3A-CDG | Anomalie congénitale de la glycosylation type 1w · Anomalie congénitale de la glycosylation type Iw · CDG-Iw · CDG1W · Syndrome des glycoprotéines déficientes en hydrates de carbone type Iw |
| de | STT3A-CDG | CDG (Congenital Disorder of Glycosylation) Typ Iw · CDG-Iw · CDG-Syndrom Typ Iw · CDG1W · Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ Iw · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Iw |
| es | STT3A-CDG | CDG-Iw · CDG1W · Síndrome CDG tipo Iw · Trastorno congénito de la glicosilación tipo 1w · Trastorno congénito de la glicosilación tipo Iw |
| it | STT3A-CDG | CDG-Iw · CDG1W · Disturbo congenito della glicosilazione, tipo Iw · Sindrome CDG, tipo Iw |
| nl | STT3A-CDG | CDG-Iw · CDG-syndroom type Iw · CDG1W · Congenitale defecten van de glycosylering type 1w · Congenitale defecten van de glycosylering type Iw · Congenitale glycosylatiestoornis type 1w · Congenitale glycosylatiestoornis type Iw |
| pt | STT3A-CDG | CDG-Iw · CDG1W · Doença congénita da glicosilação tipo Iw · Glicogenose tipo 1w · Síndrome CDG tipo Iw |
| pl | STT3A-CDG | CDG1W · CDG-Iw · Zespół CDG typu Iw · Wrodzone zaburzenie glikozylacji typu 1w · Wrodzone zaburzenie glikozylacji typu Iw |
| cs | STT3A-CDG | CDG syndrom, typ Iw · CDG-Iw · CDG1W · Vrozená porucha glykosylace typ Iw |
| uk | STT3A-CDG | Синдром CDG, тип Iw · CDG1W · CDG-Iw · Вроджене порушення глікозилювання типу 1w · Вроджене порушення глікозилювання типу Iw |
| zh | STT3A基因型先天性糖基化障碍 | 先天性糖基化障碍Iw型 |
| tr | STT3A-CDG | CDG1W · CDG-Iw · CDG sendromu tip Iw · Doğumsal Tip 1w bozukluğu · Doğumsal glikozilasyon tip Iw doğumsal bozukluğu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615596 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | attributed | validated |
| MONDO | 0014270 | E | validated | |
| UMLS | C3810062 | 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:371071Congenital disorder of glycosylation with epilepsy as a major feature
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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STT3A | Disease-causing germline mutation(s) in | Assessed | HGNC:6172 | ENSG00000134910 | 601134 | 11q24.2 | STT3 oligosaccharyltransferase complex catalytic subunit A | 23842455[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23842455[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23842455[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.
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HPO phenotypes
13 annotations · validated 2017-02-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012345 | Abnormal glycosylation | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0007772 | Impaired smooth pursuit | |
| HP:0000054 | Micropenis | |
| HP:0000046 | Small scrotum | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 23842455[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370921
- This record as JSON: /data/d/370921.json