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

Abnormality of the nervous system

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

Abnormality of the digestive system

Trait	나타나는 빈도
Portal fibrosis	항상
Jaundice	매우 자주 (80–99%)
Slowed or blocked flow of bile from liver	매우 자주 (80–99%)
Diarrhea	자주 (30–79%)
Enlarged liver	자주 (30–79%)
Hepatic fibrosis	자주 (30–79%)
Portal inflammation	자주 (30–79%)
Ballooning hepatocyte degeneration	가끔 (5–29%)
Hepatocellular carcinoma	가끔 (5–29%)
Pancreatic inflammation	가끔 (5–29%)
Poor appetite	가끔 (5–29%)
Vomiting	가끔 (5–29%)
Impaired release of bile from liver	기록되지 않음
Scar tissue replaces healthy tissue in the liver	기록되지 않음

Growth abnormality

Trait	나타나는 빈도
Decreased body mass index	매우 자주 (80–99%)
Faltering weight in infancy	자주 (30–79%)
Prenatal growth deficiency	가끔 (5–29%)
Faltering weight	기록되지 않음
Growth delay	기록되지 않음

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Prolonged prothrombin time	매우 자주 (80–99%)
Gastrointestinal bleeding	가끔 (5–29%)
Low number of red blood cells or hemoglobin	가끔 (5–29%)
Bleeding tendency	드물게 (1–4%)

Abnormal cellular phenotype

Trait	나타나는 빈도
Decreased circulating antibody level	매우 자주 (80–99%)

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Enlarged liver and spleen	자주 (30–79%)

Abnormality of the endocrine system

Trait	나타나는 빈도
Delayed start of first period	가끔 (5–29%)

Abnormality of the eye

Trait	나타나는 빈도
Clouding of the lens of the eye	드물게 (1–4%)

Abnormality of the genitourinary system

Trait	나타나는 빈도
Enuresis	가끔 (5–29%)

Constitutional symptom

Trait	나타나는 빈도
Night sweats	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

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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