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	Kaip dažnai pasireiškia
Rimmed vacuoles	Labai dažnai (80–99%)
Abnormal morphology of musculature of pharynx	Dažnai (30–79%)
Decreased lung function due to weak breathing muscles	Dažnai (30–79%)
Distal lower limb amyotrophy	Dažnai (30–79%)
Progressive distal muscle weakness	Dažnai (30–79%)
Fatigable weakness of bulbar muscles	Kartais (5–29%)
Progressive proximal muscle weakness	Kartais (5–29%)
Increased endomysial connective tissue	Neužfiksuota
Internally nucleated skeletal muscle fibers	Neužfiksuota
Muscle fiber splitting	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Abnormality of facial muscles	Labai dažnai (80–99%)
Weakness of facial musculature	Labai dažnai (80–99%)
High palate	Dažnai (30–79%)
High, narrow palate	Dažnai (30–79%)
Myopathic facies	Dažnai (30–79%)
Tongue muscle weakness	Dažnai (30–79%)
Abnormality of masseter muscle	Kartais (5–29%)
Abnormality of orbicularis oris muscle	Retai (1–4 %)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Enlarged liver	Visada
Hepatic fibrosis	Visada
Jaundice	Visada
Liver failure	Visada
Portal fibrosis	Visada
Impaired oropharyngeal swallow response	Dažnai (30–79%)
Oral-pharyngeal dysphagia	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Distal lower limb muscle weakness	Dažnai (30–79%)
Distal upper limb amyotrophy	Dažnai (30–79%)
Distal upper limb muscle weakness	Dažnai (30–79%)
Proximal lower limb muscle weakness	Dažnai (30–79%)
Foot drop	Kartais (5–29%)
Proximal upper limb muscle weakness	Kartais (5–29%)
Tibialis muscle weakness	Kartais (5–29%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Breathy speech	Labai dažnai (80–99%)
Difficulty articulating speech	Dažnai (30–79%)
Weakness of the vocal cords	Dažnai (30–79%)
Abnormal gait	Kartais (5–29%)
Absent reflexes	Kartais (5–29%)
Loss of ability to walk	Kartais (5–29%)
Leg paralysis	Retai (1–4 %)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Drooping upper eyelid	Visada
Progressive drooping of upper eyelid	Labai dažnai (80–99%)
Progressive external ophthalmoplegia	Labai dažnai (80–99%)
Weakness of muscles controlling eye movement	Labai dažnai (80–99%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Dažnai (30–79%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
High blood bilirubin levels	Visada
High liver enzymes	Visada
Increased serum bile acid concentration	Visada
Increased total iron binding capacity	Visada
Elevated blood creatine phosphokinase	Neužfiksuota

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Iron deficiency anemia	Visada
Prolonged partial thromboplastin time	Visada

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Increased spleen size	Visada
Portal hypertension	Visada

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Bowing of the vocal cords	Dažnai (30–79%)
Stiff lung or chest wall causing decreased lung volume	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Progressive sensorineural hearing impairment	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Recurrent aspiration pneumonia	Dažnai (30–79%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Weight loss	Labai dažnai (80–99%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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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