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	Kui sageli seda täheldatakse
Rimmed vacuoles	Väga sageli (80–99%)
Abnormal morphology of musculature of pharynx	Sageli (30–79%)
Decreased lung function due to weak breathing muscles	Sageli (30–79%)
Distal lower limb amyotrophy	Sageli (30–79%)
Progressive distal muscle weakness	Sageli (30–79%)
Fatigable weakness of bulbar muscles	Mõnikord (5–29%)
Progressive proximal muscle weakness	Mõnikord (5–29%)
Increased endomysial connective tissue	Pole registreeritud
Internally nucleated skeletal muscle fibers	Pole registreeritud
Muscle fiber splitting	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Abnormality of facial muscles	Väga sageli (80–99%)
Weakness of facial musculature	Väga sageli (80–99%)
High palate	Sageli (30–79%)
High, narrow palate	Sageli (30–79%)
Myopathic facies	Sageli (30–79%)
Tongue muscle weakness	Sageli (30–79%)
Abnormality of masseter muscle	Mõnikord (5–29%)
Abnormality of orbicularis oris muscle	Harva (1–4%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Enlarged liver	Alati
Hepatic fibrosis	Alati
Jaundice	Alati
Liver failure	Alati
Portal fibrosis	Alati
Impaired oropharyngeal swallow response	Sageli (30–79%)
Oral-pharyngeal dysphagia	Sageli (30–79%)
Poor swallowing	Sageli (30–79%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Distal lower limb muscle weakness	Sageli (30–79%)
Distal upper limb amyotrophy	Sageli (30–79%)
Distal upper limb muscle weakness	Sageli (30–79%)
Proximal lower limb muscle weakness	Sageli (30–79%)
Foot drop	Mõnikord (5–29%)
Proximal upper limb muscle weakness	Mõnikord (5–29%)
Tibialis muscle weakness	Mõnikord (5–29%)

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Breathy speech	Väga sageli (80–99%)
Difficulty articulating speech	Sageli (30–79%)
Weakness of the vocal cords	Sageli (30–79%)
Abnormal gait	Mõnikord (5–29%)
Absent reflexes	Mõnikord (5–29%)
Loss of ability to walk	Mõnikord (5–29%)
Leg paralysis	Harva (1–4%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Drooping upper eyelid	Alati
Progressive drooping of upper eyelid	Väga sageli (80–99%)
Progressive external ophthalmoplegia	Väga sageli (80–99%)
Weakness of muscles controlling eye movement	Väga sageli (80–99%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Sageli (30–79%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
High blood bilirubin levels	Alati
High liver enzymes	Alati
Increased serum bile acid concentration	Alati
Increased total iron binding capacity	Alati
Elevated blood creatine phosphokinase	Pole registreeritud

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Iron deficiency anemia	Alati
Prolonged partial thromboplastin time	Alati

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Increased spleen size	Alati
Portal hypertension	Alati

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Bowing of the vocal cords	Sageli (30–79%)
Stiff lung or chest wall causing decreased lung volume	Mõnikord (5–29%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Progressive sensorineural hearing impairment	Mõnikord (5–29%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Recurrent aspiration pneumonia	Sageli (30–79%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Weight loss	Väga sageli (80–99%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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