ORPHA:79325
ALG8-CDG
Synonyms: CDG syndrome type Ih · CDG-Ih · CDG1H · Carbohydrate deficient glycoprotein syndrome type Ih · Congenital disorder of glycosylation type 1h · Congenital disorder of glycosylation type Ih · Glucosyltransferase 2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare form of congenital disorders of N-linked glycosylation characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene <i>ALG8</i> (11q14.1), resulting in a block in the initial step of protein glycosylation.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ALG8-CDG | CDG syndrome type Ih · CDG-Ih · CDG1H · Carbohydrate deficient glycoprotein syndrome type Ih · Congenital disorder of glycosylation type 1h · Congenital disorder of glycosylation type Ih · Glucosyltransferase 2 deficiency |
| fr | ALG8-CDG | Anomalie congénitale de la glycosylation type 1h · Anomalie congénitale de la glycosylation type Ih · CDG-Ih · CDG1H · Déficit en glucosyltransférase 2 · Syndrome CDG type Ih · Syndrome des glycoprotéines déficientes en hydrates de carbone Ih |
| de | ALG8-CDG | CDG-Ih · CDG-Syndrom Typ Ih · CDG1H · Glucosyltransferase 2-Mangel · Kohlenhydrat-defizientes Glykoprotein-Syndrom Ih · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ih |
| es | ALG8-CDG | CDG-Ih · CDG1H · Deficiencia de glucosiltransferasa 2 · Síndrome CDG tipo Ih · Síndrome de glicoproteínas deficientes en carbohidratos tipo Ih · Trastorno congénito de la glicosilación tipo 1h · Trastorno congénito de la glicosilación tipo Ih |
| it | ALG8-CDG | CDG-Ih · CDG1H · Deficit di glucosiltransferasi 2 · Disturbo congenito della glicosilazione, tipo 1h · Disturbo congenito della glicosilazione, tipo Ih · Sindrome CDG, tipo Ih · Sindrome delle glicoproteine carenti in carboidrati, tipo Ih |
| nl | ALG8-CDG | CDG-Ih · CDG-syndroom type Ih · CDG1H · Congenitale defecten van de glycosylering type 1h · Congenitale defecten van de glycosylering type Ih · Congenitale glycosylatiestoornis type 1h · Congenitale glycosylatiestoornis type Ih · Glucosyltransferase 2-deficiëntie · Koolhydraatdeficiënt glycoproteïne-syndroom Ih |
| pt | ALG8-CDG | CDG-Ih · CDG1H · Deficiência de glucosiltransferase 2 · Doença congénita da glicosilação tipo 1h · Doença congénita da glicosilação tipo Ih · Síndrome CDG tipo Ih · Síndrome de glicoproteína deficiente em carbohidratos tipo Ih |
| pl | ALG8-CDG | CDG1H · CDG-Ih · Niedobór glukozylotransferazy 2 · Wrodzone zaburzenie glikozylacji typu 1h · Wrodzone zaburzenie glikozylacji typu 1h · Zespół CDG typu Ik · Zespół obniżonej glikozylacji glikoprotein typu 1h |
| cs | ALG8-CDG | CDG syndrom, typ Ih · CDG-Ih · CDG1H · Syndrom s deficitem karbohydrátového glykoproteinu typ Ih · Vrozená porucha glykosylace, typ 1h · Vrozená porucha glykosylace typ, Ih · Deficit glukosyltransferázy 2 |
| uk | ALG8-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу Ih · Синдром CDG тип Ih · CDG1H · CDG-Ih · Вроджене порушення глікозилювання типу 1h · Вроджене порушення глікозилювання типу Ih · Дефіцит глюкозилтрансферази 2 |
| zh | 先天性糖基化障碍1h型 | 碳水化合物缺乏糖蛋白综合征Ih型 |
| tr | ALG8-CDG | CDG1H · CDG-Ih · CDG sendromu tip Ih · Glukosiltransferaz 2 eksikliği · Glikozilasyon tip 1h'nin doğumsal bozukluğu · Glikozilasyon tip Ih'nin doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip Ih |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608104 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0011969 | E | validated | |
| MeSH | C535746 | E | validated | |
| UMLS | C2931002 | E | validated | |
| GARD | 9834 | 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 (7):
- ORPHA:371157Congenital disorder of glycosylation with hepatic involvement
rare genetic diseases; rare hepatic diseases - ORPHA:371188Congenital disorder of glycosylation with intestinal involvement
rare gastroenterological diseases; rare genetic diseases - ORPHA:371207Congenital disorder of glycosylation with nephropathy as a major feature
rare genetic diseases; rare renal diseases - 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: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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALG8 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23161 | ENSG00000159063 | 608103 | 11q14.1 | ALG8 alpha-1,3-glucosyltransferase | 20301507[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 26066342[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26066342[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
48 annotations · validated 2021-09-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001252 | Hypotonia | |
| Frequent (79-30%) | ||
| HP:0011121 | Abnormal skin morphology | |
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0000478 | Abnormality of the eye | |
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0001541 | Ascites | |
| HP:0000518 | Cataract | |
| HP:0000969 | Edema | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001263 | Global developmental delay | |
| HP:0001789 | Hydrops fetalis | |
| HP:0002902 | Hyponatremia | |
| HP:0001622 | Premature birth | |
| HP:0001250 | Seizure | |
| HP:0001873 | Thrombocytopenia | |
| HP:0003642 | Type I transferrin isoform profile | |
| Occasional (29-5%) | ||
| HP:0001001 | Abnormality of subcutaneous fat tissue | |
| HP:0001903 | Anemia | |
| HP:0001251 | Ataxia | |
| HP:0001156 | Brachydactyly | |
| HP:0012385 | Camptodactyly | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000973 | Cutis laxa | |
| HP:0002014 | Diarrhea | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0003186 | Inverted nipples | |
| HP:0002415 | Leukodystrophy | |
| HP:0002352 | Leukoencephalopathy | |
| HP:0000369 | Low-set ears | |
| HP:0000158 | Macroglossia | |
| HP:0000639 | Nystagmus | |
| HP:0001562 | Oligohydramnios | |
| HP:0000648 | Optic atrophy | |
| HP:0100678 | Premature skin wrinkling | |
| HP:0001976 | Reduced antithrombin III activity | |
| HP:0001929 | Reduced factor XI activity | |
| HP:0005543 | Reduced protein C activity | |
| HP:0000488 | Retinopathy | |
| HP:0001518 | Small for gestational age | |
| HP:0001762 | Talipes equinovarus | |
| HP:0002119 | Ventriculomegaly | |
| HP:0002013 | Vomiting | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26066342[PMID]_20301507[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79325
- This record as JSON: /data/d/79325.json