ORPHA:79326
ALG2-CDG
Synonyms: CDG syndrome type Ii · CDG-Ii · CDG1I · Carbohydrate deficient glycoprotein syndrome type Ii · Congenital disorder of glycosylation type 1i · Congenital disorder of glycosylation type Ii · Mannosyltransferase 2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene <i>ALG2</i> (9q31.1). Transmission is autosomal recessive.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ALG2-CDG | CDG syndrome type Ii · CDG-Ii · CDG1I · Carbohydrate deficient glycoprotein syndrome type Ii · Congenital disorder of glycosylation type 1i · Congenital disorder of glycosylation type Ii · Mannosyltransferase 2 deficiency |
| fr | Syndrome CDG-ALG2 | Déficit en mannosyltransférase 2 · Syndrome CDG type Ii · Syndrome des glycoprotéines déficientes en hydrates de carbone Ii · Anomalie congénitale de la glycosylation type 1i · Anomalie congénitale de la glycosylation type Ii · CDG-Ii · CDG1I |
| de | ALG2-CDG | CDG-Ii · CDG-Syndrom Typ Ii · CDG1I · Kohlenhydrat-defizientes Glykoprotein-Syndrom Ii · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ii · Mannosyltransferase 2-Mangel |
| es | ALG2-CDG | CDG-Ii · CDG1I · Deficiencia de manosiltransferasa 2 · Síndrome CDG tipo Ii · Síndrome de glicoproteínas deficientes en carbohidratos tipo Ii · Trastorno congénito de la glicosilación tipo 1i · Trastorno congénito de la glicosilación tipo Ii |
| it | ALG2-CDG | CDG-Ii · CDG1I · Deficit di mannosiltransferasi 2 · Disturbo congenito della glicosilazione, tipo 1i · Disturbo congenito della glicosilazione, tipo Ii · Sindrome CDG, tipo Ii · Sindrome delle glicoproteine carenti in carboidrati, tipo Ii |
| nl | ALG2-CDG | CDG-Ii · CDG-syndroom type Ii · CDG1I · Congenitale defecten van de glycosylering type 1i · Congenitale defecten van de glycosylering type Ii · Congenitale glycosylatiestoornis type 1i · Congenitale glycosylatiestoornis type Ii · Koolhydraatdeficiënt glycoproteïne-syndroom Ii · Mannosyltransferase 2-deficiëntie |
| pt | ALG2-CDG | CDG-Ii · CDG1I · Deficiência de manosiltransferase 2 · Doença congénita da glicosilação tipo 1i · Doença congénita da glicosilação tipo Ii · Síndrome CDG tipo Ii · Síndrome de glicoproteínas deficientes em carbohidratos tipo Ii |
| pl | ALG2-CDG | CDG1I · CDG-Ii · Niedobór mannozylotransferazy 2 · Wrodzone zaburzenie glikozylacji typu 1i · Wrodzone zaburzenie glikozylacji typu Ii · Zespół CDG typu Ii · Zespół obniżonej glikozylacji glikoprotein typu Ii |
| cs | ALG2-CDG | CDG syndrom, typ Ii · CDG-Ii · CDG1I · Carbohydrate deficient glycoprotein syndrom type Ii · Vrozená porucha glykosylace, typ 1i · Vrozená porucha glykosylace, typ Ii · Deficit mannosyltransferázy 2 · Syndrom s deficitem karbohydrátového glykoproteinu typ Ii |
| uk | ALG2-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром II типу · Синдром CDG тип II · CDG1I · CDG-ІІ · Вроджене порушення глікозилювання типу 1i · Вроджене порушення глікозилювання типу II · Дефіцит маннозилтрансферази 2 |
| zh | 先天性糖基化障碍1i型 | 碳水化合物缺乏糖蛋白综合征Ii型 |
| tr | ALG2-CDG | CDG1I · CDG-Ii · CDG sendromu tip Ii · Mannosiltransferaz 2 eksikliği · Tip 1i'nin Doğumsal bozukluğu · Tip II glikosilasyonun Doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip Ii |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607906 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0011933 | E | validated | |
| MeSH | C000623088 | E | validated | |
| UMLS | C1842836 | E | validated | |
| GARD | 9836 | 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 (5):
- 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:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - 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 |
|---|---|---|---|---|---|---|---|---|
| ALG2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23159 | ENSG00000119523 | 607905 | 9q22.33 | ALG2 alpha-1,3/1,6-mannosyltransferase | 20301507[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 | 12684507[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12684507[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
25 annotations · validated 2021-09-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0003642 | Type I transferrin isoform profile | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0000518 | Cataract | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0000565 | Esotropia | |
| HP:0001263 | Global developmental delay | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0001249 | Intellectual disability | |
| HP:0000612 | Iris coloboma | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | |
| HP:0006808 | Cerebral hypomyelination | |
| HP:0002240 | Hepatomegaly | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0012469 | Infantile spasms | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0012704 | Widened subarachnoid space | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 12684507[PMID]_30397276[PMID]_20301507[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79326
- This record as JSON: /data/d/79326.json