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	나타나는 빈도
Rimmed vacuoles	매우 자주 (80–99%)
Abnormal morphology of musculature of pharynx	자주 (30–79%)
Decreased lung function due to weak breathing muscles	자주 (30–79%)
Distal lower limb amyotrophy	자주 (30–79%)
Progressive distal muscle weakness	자주 (30–79%)
Fatigable weakness of bulbar muscles	가끔 (5–29%)
Progressive proximal muscle weakness	가끔 (5–29%)
Increased endomysial connective tissue	기록되지 않음
Internally nucleated skeletal muscle fibers	기록되지 않음
Muscle fiber splitting	기록되지 않음

Trait	나타나는 빈도
Abnormality of facial muscles	매우 자주 (80–99%)
Weakness of facial musculature	매우 자주 (80–99%)
High palate	자주 (30–79%)
High, narrow palate	자주 (30–79%)
Myopathic facies	자주 (30–79%)
Tongue muscle weakness	자주 (30–79%)
Abnormality of masseter muscle	가끔 (5–29%)
Abnormality of orbicularis oris muscle	드물게 (1–4%)

Trait	나타나는 빈도
Enlarged liver	항상
Hepatic fibrosis	항상
Jaundice	항상
Liver failure	항상
Portal fibrosis	항상
Impaired oropharyngeal swallow response	자주 (30–79%)
Oral-pharyngeal dysphagia	자주 (30–79%)
Poor swallowing	자주 (30–79%)

Trait	나타나는 빈도
Distal lower limb muscle weakness	자주 (30–79%)
Distal upper limb amyotrophy	자주 (30–79%)
Distal upper limb muscle weakness	자주 (30–79%)
Proximal lower limb muscle weakness	자주 (30–79%)
Foot drop	가끔 (5–29%)
Proximal upper limb muscle weakness	가끔 (5–29%)
Tibialis muscle weakness	가끔 (5–29%)

Trait	나타나는 빈도
Breathy speech	매우 자주 (80–99%)
Difficulty articulating speech	자주 (30–79%)
Weakness of the vocal cords	자주 (30–79%)
Abnormal gait	가끔 (5–29%)
Absent reflexes	가끔 (5–29%)
Loss of ability to walk	가끔 (5–29%)
Leg paralysis	드물게 (1–4%)

Trait	나타나는 빈도
Drooping upper eyelid	항상
Progressive drooping of upper eyelid	매우 자주 (80–99%)
Progressive external ophthalmoplegia	매우 자주 (80–99%)
Weakness of muscles controlling eye movement	매우 자주 (80–99%)
Paralysis or weakness of muscles within or surrounding outer part of eye	자주 (30–79%)

Trait	나타나는 빈도
High blood bilirubin levels	항상
High liver enzymes	항상
Increased serum bile acid concentration	항상
Increased total iron binding capacity	항상
Elevated blood creatine phosphokinase	기록되지 않음

Trait	나타나는 빈도
Iron deficiency anemia	항상
Prolonged partial thromboplastin time	항상

Trait	나타나는 빈도
Increased spleen size	항상
Portal hypertension	항상

Trait	나타나는 빈도
Bowing of the vocal cords	자주 (30–79%)
Stiff lung or chest wall causing decreased lung volume	가끔 (5–29%)

Trait	나타나는 빈도
Progressive sensorineural hearing impairment	가끔 (5–29%)

Trait	나타나는 빈도
Recurrent aspiration pneumonia	자주 (30–79%)

Trait	나타나는 빈도
Weight loss	매우 자주 (80–99%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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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