Traits

Traits linked to ALG8

ALG8 alpha-1,3-glucosyltransferase

The Human Phenotype Ontology links 86 traits to ALG8, by body system: features seen in people with one of the gene's rare conditions.

ALG8

Abnormality of the digestive system

Trait	How often it is seen
Accumulation of fluid in the abdomen	Always
Diarrhea	Always
Enlarged liver	Always
Liver cysts	Always
Protein-losing enteropathy	Always
Abdominal bloating	Very often (80–99%)
Polycystic liver disease	Very often (80–99%)
Abnormality of the gastrointestinal tract	Often (30–79%)
Decreased liver function	Often (30–79%)
Feeling full quickly when eating	Often (30–79%)
Slowed or blocked flow of bile from liver	Often (30–79%)
Vomiting	Often (30–79%)
Abdominal pain	Sometimes (5–29%)
Abnormality of the pancreas	Sometimes (5–29%)
Acid reflux	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)
Feeding difficulties in infancy	Sometimes (5–29%)
Jaundice	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated creatinine	Always
Fluid retention	Always
Low albumin	Always
Type I transferrin isoform profile	Always
High liver enzymes	Often (30–79%)
Hydrops fetalis	Often (30–79%)
Low blood sodium levels	Often (30–79%)
Elevated alkaline phosphatase	Sometimes (5–29%)
Elevated gamma-glutamyltransferase level	Sometimes (5–29%)
High bili total	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of the nervous system	Very often (80–99%)
Epilepsy	Often (30–79%)
Global developmental delay	Often (30–79%)
Ataxia	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Leukodystrophy	Sometimes (5–29%)
Leukoencephalopathy	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Always
Low platelet count	Always
Reduced antithrombin III activity	Always
Reduced factor XI activity	Always
Abnormality of the coagulation cascade	Often (30–79%)
Gastrointestinal bleeding	Sometimes (5–29%)
Reduced protein C activity	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of the eye	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Wide-set eyes	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Noninflammatory retina disease	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Very often (80–99%)
Long philtrum	Often (30–79%)
Short neck	Often (30–79%)
Wide fontanelles	Often (30–79%)
Abnormally large tongue	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent ductus arteriosus	Often (30–79%)
Perimembranous ventricular septal defect	Often (30–79%)
Abnormal heart valve morphology	Sometimes (5–29%)
Aneurysm	Sometimes (5–29%)
Brain aneurysm	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal skin structure	Often (30–79%)
Abnormality of fatty tissue below the skin	Sometimes (5–29%)
Hanging skin	Sometimes (5–29%)
Premature skin wrinkling	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Often (30–79%)
Fluid accumulation in lower limbs	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Often (30–79%)
Low levels of amniotic fluid	Often (30–79%)
Premature birth	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Cystic kidney disease	Very often (80–99%)
Multiple kidney cysts	Often (30–79%)
Undescended testes	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Permanent flexion of the finger or toe	Often (30–79%)
Back pain	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	Sometimes (5–29%)
Breathing difficulty	Sometimes (5–29%)
Respiratory function loss	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Prenatal growth deficiency	Often (30–79%)
Small for gestational age	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating T4 concentration	Always
Underactive thyroid	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Inverted nipples	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to ALG8 and how often each is seen. Find out more at hpo.jax.org.

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