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Traits

Traits linked to TRMT5

tRNA methyltransferase 5

The Human Phenotype Ontology links 39 traits to TRMT5, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitHvor ofte det ses
Babinski signOfte (30–79 %)
Brain degenerationOfte (30–79 %)
Decreased reflex responseOfte (30–79 %)
Delayed CNS myelinationOfte (30–79 %)
Global developmental delayOfte (30–79 %)
Increased reflexesOfte (30–79 %)
IrritabilityOfte (30–79 %)
Peripheral neuropathyOfte (30–79 %)
Poor speechOfte (30–79 %)
TremorOfte (30–79 %)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Involuntary muscle stiffness, contraction, or spasmAltid
Muscle weaknessAltid
Cytochrome C oxidase-negative muscle fibersOfte (30–79 %)
Difficulty in standingOfte (30–79 %)
Low muscle toneOfte (30–79 %)
Spasticity and rigidity of musclesOfte (30–79 %)

Abnormality of the digestive system

TraitHvor ofte det ses
Scar tissue replaces healthy tissue in the liverAltid
Feeding difficultiesOfte (30–79 %)
Inability to properly digest food due to lack of pancreatic digestive enzymesOfte (30–79 %)
MalabsorptionOfte (30–79 %)
Nausea and vomitingOfte (30–79 %)

Laboratory abnormality

TraitHvor ofte det ses
Higher than normal levels of lactate in bloodAltid
Increased lactate in bodyAltid
Glucose in urineOfte (30–79 %)
Glucose intoleranceOfte (30–79 %)

Abnormal cellular phenotype

TraitHvor ofte det ses
Decreased activity of mitochondrial complex IOfte (30–79 %)
Decreased activity of mitochondrial complex IIIOfte (30–79 %)
Decreased activity of mitochondrial complex IVOfte (30–79 %)

Abnormality of head or neck

TraitHvor ofte det ses
Narrow mouthOfte (30–79 %)
Triangular faceOfte (30–79 %)

Abnormality of the respiratory system

TraitHvor ofte det ses
Exertional breathlessnessAltid
Breathing difficultyOfte (30–79 %)

Abnormality of blood and blood-forming tissues

TraitHvor ofte det ses
Elevated hemoglobin A1cOfte (30–79 %)

Abnormality of limbs

TraitHvor ofte det ses
Webbed 2nd and 3rd toesOfte (30–79 %)

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Enlarged and thickened heart muscleOfte (30–79 %)

Abnormality of the eye

TraitHvor ofte det ses
Blue outer white part of eyeballOfte (30–79 %)

Abnormality of the genitourinary system

TraitHvor ofte det ses
Abnormal function of filtrating structures in kidneyOfte (30–79 %)

Constitutional symptom

TraitHvor ofte det ses
Decreased ability to exerciseAltid

Growth abnormality

TraitHvor ofte det ses
Faltering weightOfte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to TRMT5 and how often each is seen. Find out more at hpo.jax.org.

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