ORPHA:324422
ALG13-CDG
Synonyms: CDG syndrome type Is · CDG-Is · CDG1S · Congenital disorder of glycosylation type 1s · Congenital disorder of glycosylation type Is
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene <i>ALG13</i> (Xq23).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ALG13-CDG | CDG syndrome type Is · CDG-Is · CDG1S · Congenital disorder of glycosylation type 1s · Congenital disorder of glycosylation type Is |
| fr | ALG13-CDG | Anomalie congénitale de la glycosylation type 1s · Anomalie congénitale de la glycosylation type Is · CDG-Is · CDG1S · Syndrome CDG type Is · Syndrome des glycoprotéines déficientes en hydrates de carbone type Is |
| de | ALG13-CDG | CDG-Syndrom Typ Is · CDG1S · Kohlenhydrat-defizientes Glykoprotein-Syndrom 1s · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Is · CDG (Congenital Disorder of Glycosylation) Typ Is · CDG-Is |
| es | ALG13-CDG | CDG-1s · CDG-Is · Síndrome CDG tipo Is · Trastorno congénito de la glicosilación tipo 1s · Trastorno congénito de la glicosilación tipo Is |
| it | ALG13-CDG | CDG-Is · CDG1S · Disturbo congenito della glicosilazione, tipo 1s · Disturbo congenito della glicosilazione, tipo Is · Sindrome CDG, tipo Is |
| nl | ALG13-CDG | CDG-Is · CDG-syndroom type Is · CDG1S · Congenitale defecten van de glycosylering type 1s · Congenitale defecten van de glycosylering type Is · Congenitale glycosylatiestoornis type 1s · Congenitale glycosylatiestoornis type Is |
| pt | SíndromeALG13 -CDG | |
| pl | ALG13-CDG | CDG1S · CDG-Is · Wrodzone zaburzenie glikozylacji typu Is · Wrodzone zaburzenie glikozylacji typu 1s · Zespół CDG typu Is |
| cs | ALG13-CDG | CDG syndrom, typ Is · CDG-Is · CDG1S · Vrozená poruchy glykosylace, typ 1s · Vrozená poruchy glykosylace, typ Is |
| uk | ALG13-CDG | CDG синдром тип Is · CDG1S · CDG-І · Вроджене порушення глікозилювання типу 1s · Вроджене порушення глікозилювання за типом Is |
| zh | ALG13基因型先天性糖基化障碍 | 先天性糖基化障碍Is型 |
| tr | ALG13-CDG | CDG1S · CDG-Is · CDG sendromu tipi · Glikozilasyon 1s tipinin doğumsal bozukluğu · Glikozilasyon Is tipinin doğumsal bozukluğu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300884 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | attributed | validated |
| MONDO | 0010472 | E | validated | |
| UMLS | C4317295 | E | validated | |
| GARD | 12401 | 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 (4):
- ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:371157Congenital disorder of glycosylation with hepatic involvement
rare genetic diseases; rare hepatic 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 |
|---|---|---|---|---|---|---|---|---|
| ALG13 | Disease-causing germline mutation(s) in | Assessed | HGNC:30881 | ENSG00000101901 | 300776 | Xq23 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | 22492991[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 22492991[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22492991[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
19 annotations · validated 2017-02-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012469 | Infantile spasms | |
| Frequent (79-30%) | ||
| HP:0001290 | Generalized hypotonia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0000343 | Long philtrum | |
| Occasional (29-5%) | ||
| HP:0012443 | Abnormality of brain morphology | |
| HP:0030047 | Abnormality of lateral ventricle | |
| HP:0001181 | Adducted thumb | |
| HP:0000463 | Anteverted nares | |
| HP:0000717 | Autism | |
| HP:0002312 | Clumsiness | |
| HP:0100543 | Cognitive impairment | |
| HP:0004325 | Decreased body weight | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002283 | Global brain atrophy | |
| HP:0000316 | Hypertelorism | |
| HP:0000639 | Nystagmus | |
| HP:0002421 | Poor head control | |
| HP:0000817 | Reduced eye contact | |
| HP:0000331 | Short chin | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26138355[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324422
- This record as JSON: /data/d/324422.json