Traits

Traits linked to GLRX5

glutaredoxin 5

The Human Phenotype Ontology links 52 traits to GLRX5, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Babinski sign	Often (30–79%)
Increased reflexes	Often (30–79%)
Leukodystrophy	Often (30–79%)
Loss of ability to walk in early childhood	Often (30–79%)
Short attention span	Often (30–79%)
Spinal cord lesion	Often (30–79%)
Unsteady walk	Often (30–79%)
Ataxia	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Abnormal gait	Not recorded
Abnormal pyramidal sign	Not recorded
Cognitive impairment	Not recorded
Difficulty articulating speech	Not recorded
Epilepsy	Not recorded
Spastic ataxia	Not recorded
Underdevelopment of part of brain called corpus callosum	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood glycine levels	Always
Reduced tissue glycine cleavage enzyme activity	Always
Nonketotic hyperglycinemia	Very often (80–99%)
Higher than normal levels of lactate in blood	Often (30–79%)
Increased CSF glycine concentration	Often (30–79%)
Increased CSF lactate	Sometimes (5–29%)
Conjugated hyperbilirubinemia	Not recorded
Elevated serum ferritin	Not recorded
High liver enzymes	Not recorded
Increased iron concentration in liver	Not recorded
Noninsulin-dependent diabetes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Progressive spasticity	Very often (80–99%)
Spastic diplegia	Often (30–79%)
Spastic dysarthria	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Generalized decreased muscle tone	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased mean corpuscular volume	Not recorded
Erythroid hyperplasia	Not recorded
Hypochromia	Not recorded
Low number of red blood cells or hemoglobin	Not recorded
Unequal size of red blood cells	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Sometimes (5–29%)
Scar tissue replaces healthy tissue in the liver	Sometimes (5–29%)
Enlarged liver	Not recorded
Jaundice	Not recorded

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Optic atrophy	Often (30–79%)
Visual impairment	Often (30–79%)
Cross-eyed	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Left ventricular hypertrophy	Rarely (1–4%)
Enlarged liver and spleen	Not recorded
Increased spleen size	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of the pyruvate dehydrogenase complex	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 GLRX5 and how often each is seen. Find out more at hpo.jax.org.

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