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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

TraitKui sageli seda täheldatakse
Renal interstitial fibrosisAlati
Cystic kidney diseaseVäga sageli (80–99%)
Decreased glomerular filtration rateVäga sageli (80–99%)
Multiple kidney cystsVäga sageli (80–99%)
Renal failureVäga sageli (80–99%)
Chronic kidney diseaseSageli (30–79%)
Kidney degenerationSageli (30–79%)
Stage 5 chronic kidney diseaseSageli (30–79%)
Calcium oxalate nephrolithiasisMõnikord (5–29%)
Enlarged kidneyMõnikord (5–29%)
Frequent urinary tract infectionsMõnikord (5–29%)
PyelonephritisMõnikord (5–29%)
Reduced sperm motilityMõnikord (5–29%)
Uric acid stonesMõnikord (5–29%)

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
High blood pressureSageli (30–79%)
Abnormal systemic arterial morphologyMõnikord (5–29%)
Brain aneurysmMõnikord (5–29%)
Bulge in wall of root of large artery that carries blood away from heartMõnikord (5–29%)
Mitral valve prolapseMõnikord (5–29%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Elevated creatinineVäga sageli (80–99%)
Abnormal urinary electrolyte concentrationSageli (30–79%)
AlbuminuriaSageli (30–79%)
Blood in urineSageli (30–79%)

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Liver cystsVäga sageli (80–99%)
Pancreatic cystsMõnikord (5–29%)
Polycystic liver diseaseMõnikord (5–29%)

Abnormality of the endocrine system

TraitKui sageli seda täheldatakse
Pituitary growth hormone cell adenomaHarva (1–4%)

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Fluid-filled sac located in membrane surrounding brain or spinal cordMõnikord (5–29%)

Constitutional symptom

TraitKui sageli seda täheldatakse
Flank painSageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

  • 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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