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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.

Abnormality of the genitourinary system

TraitCât de frecvent apare
Renal interstitial fibrosisÎntotdeauna
Cystic kidney diseaseFoarte des (80–99%)
Decreased glomerular filtration rateFoarte des (80–99%)
Multiple kidney cystsFoarte des (80–99%)
Renal failureFoarte des (80–99%)
Chronic kidney diseaseDes (30–79%)
Kidney degenerationDes (30–79%)
Stage 5 chronic kidney diseaseDes (30–79%)
Calcium oxalate nephrolithiasisUneori (5–29%)
Enlarged kidneyUneori (5–29%)
Frequent urinary tract infectionsUneori (5–29%)
PyelonephritisUneori (5–29%)
Reduced sperm motilityUneori (5–29%)
Uric acid stonesUneori (5–29%)

Abnormality of the cardiovascular system

TraitCât de frecvent apare
High blood pressureDes (30–79%)
Abnormal systemic arterial morphologyUneori (5–29%)
Brain aneurysmUneori (5–29%)
Bulge in wall of root of large artery that carries blood away from heartUneori (5–29%)
Mitral valve prolapseUneori (5–29%)

Laboratory abnormality

TraitCât de frecvent apare
Elevated creatinineFoarte des (80–99%)
Abnormal urinary electrolyte concentrationDes (30–79%)
AlbuminuriaDes (30–79%)
Blood in urineDes (30–79%)

Abnormality of the digestive system

TraitCât de frecvent apare
Liver cystsFoarte des (80–99%)
Pancreatic cystsUneori (5–29%)
Polycystic liver diseaseUneori (5–29%)

Abnormality of the endocrine system

TraitCât de frecvent apare
Pituitary growth hormone cell adenomaRar (1–4%)

Abnormality of the nervous system

TraitCât de frecvent apare
Fluid-filled sac located in membrane surrounding brain or spinal cordUneori (5–29%)

Constitutional symptom

TraitCât de frecvent apare
Flank painDes (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

  • 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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