ORPHA:79327
ALG1-CDG
Synonyms: Carbohydrate deficient glycoprotein syndrome type Ik · Congenital disorder of glycosylation type 1k · Congenital disorder of glycosylation type Ik · Mannosyltransferase 1 deficiency · CDG syndrome type Ik · CDG-Ik · CDG1K
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene <i>ALG1</i> (16p13.3).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ALG1-CDG | Carbohydrate deficient glycoprotein syndrome type Ik · Congenital disorder of glycosylation type 1k · Congenital disorder of glycosylation type Ik · Mannosyltransferase 1 deficiency · CDG syndrome type Ik · CDG-Ik · CDG1K |
| fr | ALG1-CDG | Anomalie congénitale de la glycosylation type 1k · Anomalie congénitale de la glycosylation type Ik · CDG-Ik · CDG1K · Déficit en mannosyltransférase 1 · Syndrome CDG type Ik · Syndrome des glycoprotéines déficientes en hydrates de carbone type Ik |
| de | ALG1-CDG | CDG-Ik · CDG-Syndrom Typ Ik · CDG1K · Kohlenhydrat-defizientes Glykoprotein-Syndrom Ik · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ik · Mannosyltransferase 1-Mangel |
| es | ALG1-CDG | CDG-Ik · CDG1K · Deficiencia de manosiltransferasa 1 · Síndrome CDG tipo Ik · Síndrome de glicoproteínas deficientes en carbohidratos tipo Ik · Trastorno congénito de la glicosilación tipo 1k · Trastorno congénito de la glicosilación tipo Ik |
| it | ALG1-CDG | CDG-Ik · CDG1K · Deficit di mannosiltransferasi 1 · Disturbo congenito della glicosilazione, tipo 1k · Disturbo congenito della glicosilazione, tipo Ik · Sindrome CDG, tipo Ik · Sindrome delle glicoproteine carenti in carboidrati, tipo Ik |
| nl | ALG1-CDG | CDG-Ik · CDG-syndroom type Ik · CDG1K · Congenitale defecten van de glycosylering type 1k · Congenitale defecten van de glycosylering type Ik · Congenitale glycosylatiestoornis type 1k · Congenitale glycosylatiestoornis type Ik · Koolhydraatdeficiënt glycoproteïne-syndroom type Ik · Mannosyltransferase 1-deficiëntie |
| pt | ALG1-CDG | CDG-Ik · CDG1K · Deficiência de manosiltransferase 1 · Doença congénita da glicosilação tipo 1k · Doença congénita da glicosilação tipo Ik · Síndrome CDG tipo Ik · Síndrome de glicoproteína deficiente em carbohidratos tipo Ik |
| pl | ALG1-CDG | CDG1K · CDG-Ik · Niedobór mannozylotransferazy 1 · Wrodzone zaburzenie glikozylacji typu 1k · Wrodzone zaburzenie glikozylacji typu Ik · Zespół CDG typu Ik · Zespół obniżonej glikozylacji glikoprotein typu Ik |
| cs | ALG1-CDG | CDG syndrom, typ Ik · CDG-Ik · CDG1K · Carbohydrate deficient glycoprotein syndrom type Ik · Vrozená porucha glykosylace, typ 1k · Vrozená porucha glykosylace, typ Ik · Deficit mannosyltransferázy 1 · Syndrom s deficitem karbohydrátového glykoproteinu typ Ik |
| uk | ALG1-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу Ik · Синдром CDG, тип Ik · CDG1K · CDG-Ik · Вроджене порушення глікозилювання типу 1k · Вроджене порушення глікозилювання типу Ik · Дефіцит маннозилтрансферази 1 |
| zh | 先天性糖基化障碍1k型 | 碳水化合物缺乏糖蛋白综合征Ik型 |
| tr | ALG1-CDG | CDG1K · CDG-Ik · CDG sendromu tip Ik · Mannosiltransferaz 1 eksikliği · Glikozilasyon tip Ik'nin doğumsal bozukluğu · Glikozilasyon tip Ik'nin doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip Ik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608540 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0012052 | E | validated | |
| MeSH | C535749 | E | validated | |
| UMLS | C2931005 | E | validated | |
| GARD | 9838 | 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALG1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18294 | ENSG00000033011 | 605907 | 16p13.3 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | 20301507[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 57 cases | Worldwide | Case(s) | Validated | 26931382[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26931382[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
33 annotations · validated 2021-09-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001871 | Abnormality of blood and blood-forming tissues | |
| HP:0000478 | Abnormality of the eye | |
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0002028 | Chronic diarrhea | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000253 | Progressive microcephaly | |
| HP:0002650 | Scoliosis | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0001638 | Cardiomyopathy | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0001410 | Decreased liver function | |
| HP:0002721 | Immunodeficiency | |
| HP:0002808 | Kyphosis | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0000639 | Nystagmus | |
| HP:0002243 | Protein-losing enteropathy | |
| HP:0002719 | Recurrent infections | |
| HP:0000083 | Renal insufficiency | |
| HP:0002878 | Respiratory failure | |
| HP:0100806 | Sepsis | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20301507[PMID]_26931382[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79327
- This record as JSON: /data/d/79327.json