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Traits
Traits linked to ALG5
ALG5 dolichyl-phosphate beta-glucosyltransferase
The Human Phenotype Ontology links 29 traits to ALG5, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Renal interstitial fibrosis | Always |
| Cystic kidney disease | Very often (80–99%) |
| Decreased glomerular filtration rate | Very often (80–99%) |
| Multiple kidney cysts | Very often (80–99%) |
| Renal failure | Very often (80–99%) |
| Chronic kidney disease | Often (30–79%) |
| Kidney degeneration | Often (30–79%) |
| Stage 5 chronic kidney disease | Often (30–79%) |
| Calcium oxalate nephrolithiasis | Sometimes (5–29%) |
| Enlarged kidney | Sometimes (5–29%) |
| Frequent urinary tract infections | Sometimes (5–29%) |
| Pyelonephritis | Sometimes (5–29%) |
| Reduced sperm motility | Sometimes (5–29%) |
| Uric acid stones | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| High blood pressure | Often (30–79%) |
| Abnormal systemic arterial morphology | Sometimes (5–29%) |
| Brain aneurysm | Sometimes (5–29%) |
| Bulge in wall of root of large artery that carries blood away from heart | Sometimes (5–29%) |
| Mitral valve prolapse | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Elevated creatinine | Very often (80–99%) |
| Abnormal urinary electrolyte concentration | Often (30–79%) |
| Albuminuria | Often (30–79%) |
| Blood in urine | Often (30–79%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Liver cysts | Very often (80–99%) |
| Pancreatic cysts | Sometimes (5–29%) |
| Polycystic liver disease | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Pituitary growth hormone cell adenoma | Rarely (1–4%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Fluid-filled sac located in membrane surrounding brain or spinal cord | Sometimes (5–29%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Flank pain | 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 ALG5 and how often each is seen. Find out more at hpo.jax.org.
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