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Traits

Traits linked to ABCD4

ATP binding cassette subfamily D member 4

The Human Phenotype Ontology links 35 traits to ABCD4, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

TraitHvor ofte det ses
Elevated blood homocystineAltid
Elevated circulating propionylcarnitine concentrationAltid
High urine homocystine levelsAltid
Methylmalonic acidemiaAltid
Methylmalonic aciduriaAltid
Decreased plasma methionineOfte (30–79 %)
Decreased circulating methylcobalamin concentrationNogle gange (5–29 %)
Decreased methionine synthase activityNogle gange (5–29 %)
Decreased circulating adenosylcobalamin concentrationIkke registreret

Abnormality of the cardiovascular system

TraitHvor ofte det ses
An opening in the wall separating the top two chambers of the heartOfte (30–79 %)
Increased blood pressure in blood vessels of lungsOfte (30–79 %)
Narrowing of aortaOfte (30–79 %)
Patent ductus arteriosusOfte (30–79 %)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Low muscle toneAltid
Bell-shaped thoraxOfte (30–79 %)
Delayed bone maturationOfte (30–79 %)
Horizontal ribsOfte (30–79 %)

Abnormality of the nervous system

TraitHvor ofte det ses
Global developmental delayAltid
Degeneration of cerebrumOfte (30–79 %)
LethargyOfte (30–79 %)
Abnormal posturingIkke registreret

Abnormality of blood and blood-forming tissues

TraitHvor ofte det ses
Low blood neutrophil countAltid
Normochromic anemiaAltid
Low platelet countOfte (30–79 %)

Abnormality of the digestive system

TraitHvor ofte det ses
Feeding difficultiesAltid
Inguinal herniaAltid
Acid refluxOfte (30–79 %)

Growth abnormality

TraitHvor ofte det ses
Faltering weightAltid
Growth delayIkke registreret

Abnormality of head or neck

TraitHvor ofte det ses
Little lower jawOfte (30–79 %)

Abnormality of prenatal development or birth

TraitHvor ofte det ses
Fetal distressOfte (30–79 %)

Abnormality of the breast

TraitHvor ofte det ses
Wide-spaced nipplesOfte (30–79 %)

Abnormality of the eye

TraitHvor ofte det ses
Wide-set eyesOfte (30–79 %)

Abnormality of the genitourinary system

TraitHvor ofte det ses
Undescended testesOfte (30–79 %)

Abnormality of the respiratory system

TraitHvor ofte det ses
Increased respiratory rate or depth of breathingIkke registreret

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to ABCD4 and how often each is seen. Find out more at hpo.jax.org.

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