Traits

Traits linked to SAT1

spermidine/spermine N1-acetyltransferase 1

The Human Phenotype Ontology links 70 traits to SAT1, by body system: features seen in people with one of the gene's rare conditions.

SAT1

Abnormality of the immune system

Trait	How often it is seen
Decreased circulating complement C3 concentration	Very often (80–99%)
Decreased circulating complement C4 concentration	Very often (80–99%)
Antinuclear antibody positivity	Often (30–79%)
Antiphospholipid antibody positivity	Often (30–79%)
Folliculitis	Often (30–79%)
Skin rash	Often (30–79%)
Baby eczema	Sometimes (5–29%)
Discoid lupus rash	Sometimes (5–29%)
Lupus anticoagulant	Sometimes (5–29%)
Malar rash	Sometimes (5–29%)
Systemic lupus erythematosus	Sometimes (5–29%)
Antineutrophil antibody positivity	Rarely (1–4%)
Muscle inflammation	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Abnormality of the skin	Often (30–79%)
Chicken skin	Often (30–79%)
Follicular hyperkeratosis	Often (30–79%)
Hyperkeratotic papule	Often (30–79%)
Itching	Often (30–79%)
Progressive alopecia	Often (30–79%)
Poor nail formation	Sometimes (5–29%)
Hair loss	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of the nervous system	Sometimes (5–29%)
Disturbances of consciousness	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Paralysis on one side of body	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)
Cognitive impairment	Rarely (1–4%)
Language impairment	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
High ESR	Very often (80–99%)
Blood in urine	Often (30–79%)
Fever	Often (30–79%)
Fluid around lungs	Often (30–79%)
Fluid retention	Often (30–79%)
High urine protein levels	Often (30–79%)
Increased circulating lactate dehydrogenase concentration	Often (30–79%)
Dark urine	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Hair loss on scalp from scarring condition	Often (30–79%)
Sparse eyebrow	Often (30–79%)
Sparse eyelashes	Often (30–79%)
Inflammation of eyelids	Sometimes (5–29%)
Mouth sore	Sometimes (5–29%)
Pink eye	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the gastrointestinal tract	Often (30–79%)
Abdominal bloating	Sometimes (5–29%)
Abdominal pain	Sometimes (5–29%)
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)
Diarrhea	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased blood leukocyte number	Often (30–79%)
Decreased blood lymphocyte number	Often (30–79%)
Low platelet count	Often (30–79%)
Microangiopathic hemolytic anemia	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Blushed cheeks	Often (30–79%)
Fluid around heart	Often (30–79%)
Swollen lymph nodes	Often (30–79%)
Raynaud phenomenon	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney inflammation	Often (30–79%)
Nephrotic syndrome	Often (30–79%)
Renal failure	Often (30–79%)
Urinary tract abnormalities	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Corneal dystrophy	Sometimes (5–29%)
Extreme sensitivity of the eyes to light	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Sometimes (5–29%)
Muscle weakness	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	Sometimes (5–29%)
Breathing difficulty	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Joint pain	Sometimes (5–29%)
Chest pain	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Thickening of palms and soles	Sometimes (5–29%)

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 SAT1 and how often each is seen. Find out more at hpo.jax.org.

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