Traits

Traits linked to SLC25A13

solute carrier family 25 member 13

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	Cât de frecvent apare
Conjugated hyperbilirubinemia	Întotdeauna
Elevated alkaline phosphatase	Întotdeauna
Elevated blood lysine	Întotdeauna
Elevated circulating alanine aminotransferase concentration	Întotdeauna
Elevated circulating aspartate aminotransferase concentration	Întotdeauna
Elevated circulating citrulline concentration	Întotdeauna
Elevated gamma-glutamyltransferase level	Întotdeauna
High blood arginine levels	Întotdeauna
High blood bilirubin levels	Întotdeauna
High blood threonine levels	Întotdeauna
Increased methionine in blood	Întotdeauna
Increased serum bile acid concentration	Întotdeauna
Increased tyrosine in blood	Întotdeauna
Macrovesicular hepatic steatosis	Întotdeauna
Microvesicular hepatic steatosis	Întotdeauna
Abnormal circulating lipid concentration	Foarte des (80–99%)
Acute hyperammonemia	Foarte des (80–99%)
Elevated circulating alpha-fetoprotein concentration	Foarte des (80–99%)
Fatty infiltration of liver	Foarte des (80–99%)
Hypergalactosemia	Foarte des (80–99%)
Increased circulating lactate dehydrogenase concentration	Foarte des (80–99%)
Increased lactate in body	Foarte des (80–99%)
Increased plasma triglycerides	Foarte des (80–99%)
Low albumin	Foarte des (80–99%)
Abnormal circulating alanine concentration	Des (30–79%)
Abnormal circulating arginine concentration	Des (30–79%)
Abnormal circulating glutamine concentration	Des (30–79%)
Decreased protein levels in blood	Des (30–79%)
Elevated lipids in blood	Des (30–79%)
High blood ammonia levels	Des (30–79%)
High liver enzymes	Des (30–79%)
Abnormal circulating serine concentration	Uneori (5–29%)
Brain swelling	Uneori (5–29%)
Decreased circulating high-density lipoprotein cholesterol	Uneori (5–29%)
Elevated serum cholesterol	Uneori (5–29%)
Increased circulating LDL level	Uneori (5–29%)
Increased urinary glycerol	Uneori (5–29%)
Ketonuria	Uneori (5–29%)
Argininosuccinic aciduria	Neînregistrat

Abnormality of the nervous system

Trait	Cât de frecvent apare
Abnormal eating behavior	Des (30–79%)
Aggressive behavior	Des (30–79%)
Asterixis	Des (30–79%)
Confusion	Des (30–79%)
Delirium	Des (30–79%)
Delusions	Des (30–79%)
Difficulty sleeping	Des (30–79%)
Drowsiness	Des (30–79%)
Epilepsy	Des (30–79%)
Fluctuations in consciousness	Des (30–79%)
Hallucinations	Des (30–79%)
Irritability	Des (30–79%)
Lethargy	Des (30–79%)
Memory impairment	Des (30–79%)
Restlessness	Des (30–79%)
Tremor	Des (30–79%)
Waking up screaming	Des (30–79%)
Coma	Uneori (5–29%)
Difficulty staying or falling asleep	Uneori (5–29%)
Echoing another person's speech	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Hepatic encephalopathy	Uneori (5–29%)
Manic	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Psychosis	Uneori (5–29%)
Protein craving	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Portal fibrosis	Întotdeauna
Jaundice	Foarte des (80–99%)
Slowed or blocked flow of bile from liver	Foarte des (80–99%)
Diarrhea	Des (30–79%)
Enlarged liver	Des (30–79%)
Hepatic fibrosis	Des (30–79%)
Portal inflammation	Des (30–79%)
Ballooning hepatocyte degeneration	Uneori (5–29%)
Hepatocellular carcinoma	Uneori (5–29%)
Pancreatic inflammation	Uneori (5–29%)
Poor appetite	Uneori (5–29%)
Vomiting	Uneori (5–29%)
Impaired release of bile from liver	Neînregistrat
Scar tissue replaces healthy tissue in the liver	Neînregistrat

Growth abnormality

Trait	Cât de frecvent apare
Decreased body mass index	Foarte des (80–99%)
Faltering weight in infancy	Des (30–79%)
Prenatal growth deficiency	Uneori (5–29%)
Faltering weight	Neînregistrat
Growth delay	Neînregistrat

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Prolonged prothrombin time	Foarte des (80–99%)
Gastrointestinal bleeding	Uneori (5–29%)
Low number of red blood cells or hemoglobin	Uneori (5–29%)
Bleeding tendency	Rar (1–4%)

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Decreased circulating antibody level	Foarte des (80–99%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Enlarged liver and spleen	Des (30–79%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Delayed start of first period	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Clouding of the lens of the eye	Rar (1–4%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Enuresis	Uneori (5–29%)

Constitutional symptom

Trait	Cât de frecvent apare
Night sweats	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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