Traits

Traits linked to PUS1

pseudouridine synthase 1

The Human Phenotype Ontology links 45 traits to PUS1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cytochrome C oxidase-negative muscle fibers	Always
Muscle weakness	Always
Ragged-red muscle fibers	Always
EMG abnormality	Very often (80–99%)
Generalized muscle wasting	Very often (80–99%)
Low muscle tone	Very often (80–99%)
Mitochondrial myopathy	Very often (80–99%)
Muscle tissue disease	Very often (80–99%)
Double-Jointed	Often (30–79%)
Generalized decreased muscle tone	Often (30–79%)
Gowers sign	Often (30–79%)
Hunched back	Often (30–79%)
Prominent swayback	Often (30–79%)
Scoliosis	Often (30–79%)
Progressive muscle weakness	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Distichiasis	Very often (80–99%)
High palate	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long philtrum	Very often (80–99%)
Abnormally small head	Often (30–79%)
Flat nose	Often (30–79%)
Short nose	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Sideroblastic anemia	Always
Low number of red blood cells or hemoglobin	Very often (80–99%)
Erythroid hyperplasia	Not recorded
Hypochromic anemia	Not recorded
Microcytic anemia	Not recorded
Pappenheimer bodies	Not recorded

Laboratory abnormality

Trait	How often it is seen
Increased lactate in body	Very often (80–99%)
Laboratory abnormality	Very often (80–99%)
Higher than normal levels of lactate in blood	Often (30–79%)
Elevated serum ferritin	Not recorded

Abnormality of the eye

Trait	How often it is seen
Glaucoma	Often (30–79%)
Pigmentary retinopathy	Often (30–79%)
Wide-set eyes	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex I	Always
Decreased activity of mitochondrial complex IV	Always

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Often (30–79%)
Hypopituitarism	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	Often (30–79%)
Faltering weight	Not recorded

Abnormality of limbs

Trait	How often it is seen
Winged shoulder blade	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Paleness	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Stiff lung or chest wall causing decreased lung volume	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 PUS1 and how often each is seen. Find out more at hpo.jax.org.

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