Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A form of congenital disorders of N-linked glycosylation that is 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. Disease data Classification Disease Synonyms CDG syndrome type Ih CDG1H CDG-Ih Niedobór glukozylotransferazy 2 Wrodzone zaburzenie glikozylacji typu 1h Zespół CDG typu Ik Zespół obniżonej glikozylacji glikoprotein typu 1h CDG-Ih CDG1H Carbohydrate deficient glycoprotein syndrome type Ih Congenital disorder of glycosylation type 1h Congenital disorder of glycosylation type Ih Glucosyltransferase 2 deficiency ORPHA code 79325 OMIM code 608104 ICD10 code E77.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl