Traits

Traits linked to ABCD3

ATP binding cassette subfamily D member 3

The Human Phenotype Ontology links 59 traits to ABCD3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Rimmed vacuoles	Meget ofte (80–99 %)
Abnormal morphology of musculature of pharynx	Ofte (30–79 %)
Decreased lung function due to weak breathing muscles	Ofte (30–79 %)
Distal lower limb amyotrophy	Ofte (30–79 %)
Progressive distal muscle weakness	Ofte (30–79 %)
Fatigable weakness of bulbar muscles	Nogle gange (5–29 %)
Progressive proximal muscle weakness	Nogle gange (5–29 %)
Increased endomysial connective tissue	Ikke registreret
Internally nucleated skeletal muscle fibers	Ikke registreret
Muscle fiber splitting	Ikke registreret

Abnormality of head or neck

Trait	Hvor ofte det ses
Abnormality of facial muscles	Meget ofte (80–99 %)
Weakness of facial musculature	Meget ofte (80–99 %)
High palate	Ofte (30–79 %)
High, narrow palate	Ofte (30–79 %)
Myopathic facies	Ofte (30–79 %)
Tongue muscle weakness	Ofte (30–79 %)
Abnormality of masseter muscle	Nogle gange (5–29 %)
Abnormality of orbicularis oris muscle	Sjældent (1–4%)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Enlarged liver	Altid
Hepatic fibrosis	Altid
Jaundice	Altid
Liver failure	Altid
Portal fibrosis	Altid
Impaired oropharyngeal swallow response	Ofte (30–79 %)
Oral-pharyngeal dysphagia	Ofte (30–79 %)
Poor swallowing	Ofte (30–79 %)

Abnormality of limbs

Trait	Hvor ofte det ses
Distal lower limb muscle weakness	Ofte (30–79 %)
Distal upper limb amyotrophy	Ofte (30–79 %)
Distal upper limb muscle weakness	Ofte (30–79 %)
Proximal lower limb muscle weakness	Ofte (30–79 %)
Foot drop	Nogle gange (5–29 %)
Proximal upper limb muscle weakness	Nogle gange (5–29 %)
Tibialis muscle weakness	Nogle gange (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte det ses
Breathy speech	Meget ofte (80–99 %)
Difficulty articulating speech	Ofte (30–79 %)
Weakness of the vocal cords	Ofte (30–79 %)
Abnormal gait	Nogle gange (5–29 %)
Absent reflexes	Nogle gange (5–29 %)
Loss of ability to walk	Nogle gange (5–29 %)
Leg paralysis	Sjældent (1–4%)

Abnormality of the eye

Trait	Hvor ofte det ses
Drooping upper eyelid	Altid
Progressive drooping of upper eyelid	Meget ofte (80–99 %)
Progressive external ophthalmoplegia	Meget ofte (80–99 %)
Weakness of muscles controlling eye movement	Meget ofte (80–99 %)
Paralysis or weakness of muscles within or surrounding outer part of eye	Ofte (30–79 %)

Laboratory abnormality

Trait	Hvor ofte det ses
High blood bilirubin levels	Altid
High liver enzymes	Altid
Increased serum bile acid concentration	Altid
Increased total iron binding capacity	Altid
Elevated blood creatine phosphokinase	Ikke registreret

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte det ses
Iron deficiency anemia	Altid
Prolonged partial thromboplastin time	Altid

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Increased spleen size	Altid
Portal hypertension	Altid

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Bowing of the vocal cords	Ofte (30–79 %)
Stiff lung or chest wall causing decreased lung volume	Nogle gange (5–29 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Progressive sensorineural hearing impairment	Nogle gange (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte det ses
Recurrent aspiration pneumonia	Ofte (30–79 %)

Growth abnormality

Trait	Hvor ofte det ses
Weight loss	Meget ofte (80–99 %)

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 ABCD3 and how often each is seen. Find out more at hpo.jax.org.

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