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

Trait	Hvor ofte den forekommer
Elevated blood homocystine	Alltid
Elevated circulating propionylcarnitine concentration	Alltid
High urine homocystine levels	Alltid
Methylmalonic acidemia	Alltid
Methylmalonic aciduria	Alltid
Decreased plasma methionine	Ofte (30–79 %)
Decreased circulating methylcobalamin concentration	Noen ganger (5–29 %)
Decreased methionine synthase activity	Noen ganger (5–29 %)
Decreased circulating adenosylcobalamin concentration	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
An opening in the wall separating the top two chambers of the heart	Ofte (30–79 %)
Increased blood pressure in blood vessels of lungs	Ofte (30–79 %)
Narrowing of aorta	Ofte (30–79 %)
Patent ductus arteriosus	Ofte (30–79 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Low muscle tone	Alltid
Bell-shaped thorax	Ofte (30–79 %)
Delayed bone maturation	Ofte (30–79 %)
Horizontal ribs	Ofte (30–79 %)

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Global developmental delay	Alltid
Degeneration of cerebrum	Ofte (30–79 %)
Lethargy	Ofte (30–79 %)
Abnormal posturing	Ikke registrert

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Low blood neutrophil count	Alltid
Normochromic anemia	Alltid
Low platelet count	Ofte (30–79 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Feeding difficulties	Alltid
Inguinal hernia	Alltid
Acid reflux	Ofte (30–79 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Faltering weight	Alltid
Growth delay	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Little lower jaw	Ofte (30–79 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Fetal distress	Ofte (30–79 %)

Abnormality of the breast

Trait	Hvor ofte den forekommer
Wide-spaced nipples	Ofte (30–79 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Wide-set eyes	Ofte (30–79 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Undescended testes	Ofte (30–79 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Increased respiratory rate or depth of breathing	Ikke registrert

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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