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ORPHA:79325Disease
Also called 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
What it is
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 ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
15- Abnormality of the coagulation cascade
- Abnormality of the eye
- Abnormality of the gastrointestinal tract
- Abnormal skin morphology
- Ascites
- Cataract
- Edema
- Elevated circulating hepatic transaminase concentration
- Global developmental delay
- Hydrops fetalis
- Hyponatremia
- Premature birth
- Seizure
- Thrombocytopenia
- Type I transferrin isoform profile
Sometimes5–29%
30- Abnormality of subcutaneous fat tissue
- Anemia
- Ataxia
- Brachydactyly
- Camptodactyly
- Cerebral cortical atrophy
- Cutis laxa
- Diarrhea
and 22 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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