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

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Abnormal eating behavior	Sageli (30–79%)
Aggressive behavior	Sageli (30–79%)
Asterixis	Sageli (30–79%)
Confusion	Sageli (30–79%)
Delirium	Sageli (30–79%)
Delusions	Sageli (30–79%)
Difficulty sleeping	Sageli (30–79%)
Drowsiness	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Fluctuations in consciousness	Sageli (30–79%)
Hallucinations	Sageli (30–79%)
Irritability	Sageli (30–79%)
Lethargy	Sageli (30–79%)
Memory impairment	Sageli (30–79%)
Restlessness	Sageli (30–79%)
Tremor	Sageli (30–79%)
Waking up screaming	Sageli (30–79%)
Coma	Mõnikord (5–29%)
Difficulty staying or falling asleep	Mõnikord (5–29%)
Echoing another person's speech	Mõnikord (5–29%)
Global developmental delay	Mõnikord (5–29%)
Hepatic encephalopathy	Mõnikord (5–29%)
Manic	Mõnikord (5–29%)
More active than typical	Mõnikord (5–29%)
Psychosis	Mõnikord (5–29%)
Protein craving	Pole registreeritud

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Portal fibrosis	Alati
Jaundice	Väga sageli (80–99%)
Slowed or blocked flow of bile from liver	Väga sageli (80–99%)
Diarrhea	Sageli (30–79%)
Enlarged liver	Sageli (30–79%)
Hepatic fibrosis	Sageli (30–79%)
Portal inflammation	Sageli (30–79%)
Ballooning hepatocyte degeneration	Mõnikord (5–29%)
Hepatocellular carcinoma	Mõnikord (5–29%)
Pancreatic inflammation	Mõnikord (5–29%)
Poor appetite	Mõnikord (5–29%)
Vomiting	Mõnikord (5–29%)
Impaired release of bile from liver	Pole registreeritud
Scar tissue replaces healthy tissue in the liver	Pole registreeritud

Growth abnormality

Trait	Kui sageli seda täheldatakse
Decreased body mass index	Väga sageli (80–99%)
Faltering weight in infancy	Sageli (30–79%)
Prenatal growth deficiency	Mõnikord (5–29%)
Faltering weight	Pole registreeritud
Growth delay	Pole registreeritud

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Prolonged prothrombin time	Väga sageli (80–99%)
Gastrointestinal bleeding	Mõnikord (5–29%)
Low number of red blood cells or hemoglobin	Mõnikord (5–29%)
Bleeding tendency	Harva (1–4%)

Abnormal cellular phenotype

Trait	Kui sageli seda täheldatakse
Decreased circulating antibody level	Väga sageli (80–99%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Enlarged liver and spleen	Sageli (30–79%)

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Delayed start of first period	Mõnikord (5–29%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Clouding of the lens of the eye	Harva (1–4%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Enuresis	Mõnikord (5–29%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Night sweats	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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