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 den forekommer
Rimmed vacuoles	Svært 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	Noen ganger (5–29 %)
Progressive proximal muscle weakness	Noen ganger (5–29 %)
Increased endomysial connective tissue	Ikke registrert
Internally nucleated skeletal muscle fibers	Ikke registrert
Muscle fiber splitting	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Abnormality of facial muscles	Svært ofte (80–99 %)
Weakness of facial musculature	Svært 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	Noen ganger (5–29 %)
Abnormality of orbicularis oris muscle	Sjelden (1–4%)

Abnormality of the digestive system

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

Abnormality of limbs

Trait	Hvor ofte den forekommer
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	Noen ganger (5–29 %)
Proximal upper limb muscle weakness	Noen ganger (5–29 %)
Tibialis muscle weakness	Noen ganger (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Breathy speech	Svært ofte (80–99 %)
Difficulty articulating speech	Ofte (30–79 %)
Weakness of the vocal cords	Ofte (30–79 %)
Abnormal gait	Noen ganger (5–29 %)
Absent reflexes	Noen ganger (5–29 %)
Loss of ability to walk	Noen ganger (5–29 %)
Leg paralysis	Sjelden (1–4%)

Abnormality of the eye

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

Laboratory abnormality

Trait	Hvor ofte den forekommer
High blood bilirubin levels	Alltid
High liver enzymes	Alltid
Increased serum bile acid concentration	Alltid
Increased total iron binding capacity	Alltid
Elevated blood creatine phosphokinase	Ikke registrert

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Iron deficiency anemia	Alltid
Prolonged partial thromboplastin time	Alltid

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Increased spleen size	Alltid
Portal hypertension	Alltid

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Bowing of the vocal cords	Ofte (30–79 %)
Stiff lung or chest wall causing decreased lung volume	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Progressive sensorineural hearing impairment	Noen ganger (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Recurrent aspiration pneumonia	Ofte (30–79 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Weight loss	Svært ofte (80–99 %)

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

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