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Traits

Traits linked to MRPL39

mitochondrial ribosomal protein L39

The Human Phenotype Ontology links 27 traits to MRPL39, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Attention deficitAlati
Elevated brain lactate level by MRSAlati
Abnormal basal ganglia MRI signal intensitySageli (30–79%)
CNS demyelinationSageli (30–79%)
Global developmental delaySageli (30–79%)
Lack of feeling, emotion, interestSageli (30–79%)
Loss of developmental milestonesSageli (30–79%)
MigraineSageli (30–79%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Brain swellingSageli (30–79%)
Elevated urinary dicarboxylic acid levelSageli (30–79%)
Higher than normal levels of lactate in bloodSageli (30–79%)
Increased blood alanineSageli (30–79%)
Ketotic hypoglycemiaSageli (30–79%)

Abnormal cellular phenotype

TraitKui sageli seda täheldatakse
Decreased activity of mitochondrial complex IAlati
Decreased activity of mitochondrial complex IVAlati
Decreased activity of the pyruvate dehydrogenase complexSageli (30–79%)

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Cardiac failureSageli (30–79%)
Enlarged and thickened heart muscleSageli (30–79%)
Severely reduced left ventricular ejection fractionSageli (30–79%)

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Feeding difficultiesSageli (30–79%)
GallstonesSageli (30–79%)
VomitingSageli (30–79%)

Abnormality of the eye

TraitKui sageli seda täheldatakse
Cross-eyedSageli (30–79%)
Retina degenerationSageli (30–79%)

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Low muscle toneSageli (30–79%)

Abnormality of the respiratory system

TraitKui sageli seda täheldatakse
ApneaSageli (30–79%)

Growth abnormality

TraitKui sageli seda täheldatakse
Faltering weightSageli (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 MRPL39 and how often each is seen. Find out more at hpo.jax.org.

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