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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

TraitHur ofta den förekommer
Conjugated hyperbilirubinemiaAlltid
Elevated alkaline phosphataseAlltid
Elevated blood lysineAlltid
Elevated circulating alanine aminotransferase concentrationAlltid
Elevated circulating aspartate aminotransferase concentrationAlltid
Elevated circulating citrulline concentrationAlltid
Elevated gamma-glutamyltransferase levelAlltid
High blood arginine levelsAlltid
High blood bilirubin levelsAlltid
High blood threonine levelsAlltid
Increased methionine in bloodAlltid
Increased serum bile acid concentrationAlltid
Increased tyrosine in bloodAlltid
Macrovesicular hepatic steatosisAlltid
Microvesicular hepatic steatosisAlltid
Abnormal circulating lipid concentrationMycket ofta (80–99 %)
Acute hyperammonemiaMycket ofta (80–99 %)
Elevated circulating alpha-fetoprotein concentrationMycket ofta (80–99 %)
Fatty infiltration of liverMycket ofta (80–99 %)
HypergalactosemiaMycket ofta (80–99 %)
Increased circulating lactate dehydrogenase concentrationMycket ofta (80–99 %)
Increased lactate in bodyMycket ofta (80–99 %)
Increased plasma triglyceridesMycket ofta (80–99 %)
Low albuminMycket ofta (80–99 %)
Abnormal circulating alanine concentrationOfta (30–79 %)
Abnormal circulating arginine concentrationOfta (30–79 %)
Abnormal circulating glutamine concentrationOfta (30–79 %)
Decreased protein levels in bloodOfta (30–79 %)
Elevated lipids in bloodOfta (30–79 %)
High blood ammonia levelsOfta (30–79 %)
High liver enzymesOfta (30–79 %)
Abnormal circulating serine concentrationIbland (5–29 %)
Brain swellingIbland (5–29 %)
Decreased circulating high-density lipoprotein cholesterolIbland (5–29 %)
Elevated serum cholesterolIbland (5–29 %)
Increased circulating LDL levelIbland (5–29 %)
Increased urinary glycerolIbland (5–29 %)
KetonuriaIbland (5–29 %)
Argininosuccinic aciduriaInte registrerat

Abnormality of the nervous system

TraitHur ofta den förekommer
Abnormal eating behaviorOfta (30–79 %)
Aggressive behaviorOfta (30–79 %)
AsterixisOfta (30–79 %)
ConfusionOfta (30–79 %)
DeliriumOfta (30–79 %)
DelusionsOfta (30–79 %)
Difficulty sleepingOfta (30–79 %)
DrowsinessOfta (30–79 %)
EpilepsyOfta (30–79 %)
Fluctuations in consciousnessOfta (30–79 %)
HallucinationsOfta (30–79 %)
IrritabilityOfta (30–79 %)
LethargyOfta (30–79 %)
Memory impairmentOfta (30–79 %)
RestlessnessOfta (30–79 %)
TremorOfta (30–79 %)
Waking up screamingOfta (30–79 %)
ComaIbland (5–29 %)
Difficulty staying or falling asleepIbland (5–29 %)
Echoing another person's speechIbland (5–29 %)
Global developmental delayIbland (5–29 %)
Hepatic encephalopathyIbland (5–29 %)
ManicIbland (5–29 %)
More active than typicalIbland (5–29 %)
PsychosisIbland (5–29 %)
Protein cravingInte registrerat

Abnormality of the digestive system

TraitHur ofta den förekommer
Portal fibrosisAlltid
JaundiceMycket ofta (80–99 %)
Slowed or blocked flow of bile from liverMycket ofta (80–99 %)
DiarrheaOfta (30–79 %)
Enlarged liverOfta (30–79 %)
Hepatic fibrosisOfta (30–79 %)
Portal inflammationOfta (30–79 %)
Ballooning hepatocyte degenerationIbland (5–29 %)
Hepatocellular carcinomaIbland (5–29 %)
Pancreatic inflammationIbland (5–29 %)
Poor appetiteIbland (5–29 %)
VomitingIbland (5–29 %)
Impaired release of bile from liverInte registrerat
Scar tissue replaces healthy tissue in the liverInte registrerat

Growth abnormality

TraitHur ofta den förekommer
Decreased body mass indexMycket ofta (80–99 %)
Faltering weight in infancyOfta (30–79 %)
Prenatal growth deficiencyIbland (5–29 %)
Faltering weightInte registrerat
Growth delayInte registrerat

Abnormality of blood and blood-forming tissues

TraitHur ofta den förekommer
Prolonged prothrombin timeMycket ofta (80–99 %)
Gastrointestinal bleedingIbland (5–29 %)
Low number of red blood cells or hemoglobinIbland (5–29 %)
Bleeding tendencySällan (1–4%)

Abnormal cellular phenotype

TraitHur ofta den förekommer
Decreased circulating antibody levelMycket ofta (80–99 %)

Abnormality of the cardiovascular system

TraitHur ofta den förekommer
Enlarged liver and spleenOfta (30–79 %)

Abnormality of the endocrine system

TraitHur ofta den förekommer
Delayed start of first periodIbland (5–29 %)

Abnormality of the eye

TraitHur ofta den förekommer
Clouding of the lens of the eyeSällan (1–4%)

Abnormality of the genitourinary system

TraitHur ofta den förekommer
EnuresisIbland (5–29 %)

Constitutional symptom

TraitHur ofta den förekommer
Night sweatsOfta (30–79 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

  • 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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