Traits

Traits linked to SLC25A13

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The Human Phenotype Ontology links 94 traits to SLC25A13, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Conjugated hyperbilirubinemia	Always
Elevated alkaline phosphatase	Always
Elevated blood lysine	Always
Elevated circulating alanine aminotransferase concentration	Always
Elevated circulating aspartate aminotransferase concentration	Always
Elevated circulating citrulline concentration	Always
Elevated gamma-glutamyltransferase level	Always
High blood arginine levels	Always
High blood bilirubin levels	Always
High blood threonine levels	Always
Increased methionine in blood	Always
Increased serum bile acid concentration	Always
Increased tyrosine in blood	Always
Macrovesicular hepatic steatosis	Always
Microvesicular hepatic steatosis	Always
Abnormal circulating lipid concentration	Very often (80–99%)
Acute hyperammonemia	Very often (80–99%)
Elevated circulating alpha-fetoprotein concentration	Very often (80–99%)
Fatty infiltration of liver	Very often (80–99%)
Hypergalactosemia	Very often (80–99%)
Increased circulating lactate dehydrogenase concentration	Very often (80–99%)
Increased lactate in body	Very often (80–99%)
Increased plasma triglycerides	Very often (80–99%)
Low albumin	Very often (80–99%)
Abnormal circulating alanine concentration	Often (30–79%)
Abnormal circulating arginine concentration	Often (30–79%)
Abnormal circulating glutamine concentration	Often (30–79%)
Decreased protein levels in blood	Often (30–79%)
Elevated lipids in blood	Often (30–79%)
High blood ammonia levels	Often (30–79%)
High liver enzymes	Often (30–79%)
Abnormal circulating serine concentration	Sometimes (5–29%)
Brain swelling	Sometimes (5–29%)
Decreased circulating high-density lipoprotein cholesterol	Sometimes (5–29%)
Elevated serum cholesterol	Sometimes (5–29%)
Increased circulating LDL level	Sometimes (5–29%)
Increased urinary glycerol	Sometimes (5–29%)
Ketonuria	Sometimes (5–29%)
Argininosuccinic aciduria	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal eating behavior	Often (30–79%)
Aggressive behavior	Often (30–79%)
Asterixis	Often (30–79%)
Confusion	Often (30–79%)
Delirium	Often (30–79%)
Delusions	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Drowsiness	Often (30–79%)
Epilepsy	Often (30–79%)
Fluctuations in consciousness	Often (30–79%)
Hallucinations	Often (30–79%)
Irritability	Often (30–79%)
Lethargy	Often (30–79%)
Memory impairment	Often (30–79%)
Restlessness	Often (30–79%)
Tremor	Often (30–79%)
Waking up screaming	Often (30–79%)
Coma	Sometimes (5–29%)
Difficulty staying or falling asleep	Sometimes (5–29%)
Echoing another person's speech	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Hepatic encephalopathy	Sometimes (5–29%)
Manic	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)
Protein craving	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Portal fibrosis	Always
Jaundice	Very often (80–99%)
Slowed or blocked flow of bile from liver	Very often (80–99%)
Diarrhea	Often (30–79%)
Enlarged liver	Often (30–79%)
Hepatic fibrosis	Often (30–79%)
Portal inflammation	Often (30–79%)
Ballooning hepatocyte degeneration	Sometimes (5–29%)
Hepatocellular carcinoma	Sometimes (5–29%)
Pancreatic inflammation	Sometimes (5–29%)
Poor appetite	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)
Impaired release of bile from liver	Not recorded
Scar tissue replaces healthy tissue in the liver	Not recorded

Growth abnormality

Trait	How often it is seen
Decreased body mass index	Very often (80–99%)
Faltering weight in infancy	Often (30–79%)
Prenatal growth deficiency	Sometimes (5–29%)
Faltering weight	Not recorded
Growth delay	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Prolonged prothrombin time	Very often (80–99%)
Gastrointestinal bleeding	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Bleeding tendency	Rarely (1–4%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating antibody level	Very often (80–99%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Delayed start of first period	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Enuresis	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Night sweats	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 SLC25A13 and how often each is seen. Find out more at hpo.jax.org.

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