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Traits

Traits linked to ABCD4

ATP binding cassette subfamily D member 4

The Human Phenotype Ontology links 35 traits to ABCD4, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

TraitKui sageli seda täheldatakse
Elevated blood homocystineAlati
Elevated circulating propionylcarnitine concentrationAlati
High urine homocystine levelsAlati
Methylmalonic acidemiaAlati
Methylmalonic aciduriaAlati
Decreased plasma methionineSageli (30–79%)
Decreased circulating methylcobalamin concentrationMõnikord (5–29%)
Decreased methionine synthase activityMõnikord (5–29%)
Decreased circulating adenosylcobalamin concentrationPole registreeritud

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
An opening in the wall separating the top two chambers of the heartSageli (30–79%)
Increased blood pressure in blood vessels of lungsSageli (30–79%)
Narrowing of aortaSageli (30–79%)
Patent ductus arteriosusSageli (30–79%)

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Low muscle toneAlati
Bell-shaped thoraxSageli (30–79%)
Delayed bone maturationSageli (30–79%)
Horizontal ribsSageli (30–79%)

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Global developmental delayAlati
Degeneration of cerebrumSageli (30–79%)
LethargySageli (30–79%)
Abnormal posturingPole registreeritud

Abnormality of blood and blood-forming tissues

TraitKui sageli seda täheldatakse
Low blood neutrophil countAlati
Normochromic anemiaAlati
Low platelet countSageli (30–79%)

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Feeding difficultiesAlati
Inguinal herniaAlati
Acid refluxSageli (30–79%)

Growth abnormality

TraitKui sageli seda täheldatakse
Faltering weightAlati
Growth delayPole registreeritud

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Little lower jawSageli (30–79%)

Abnormality of prenatal development or birth

TraitKui sageli seda täheldatakse
Fetal distressSageli (30–79%)

Abnormality of the breast

TraitKui sageli seda täheldatakse
Wide-spaced nipplesSageli (30–79%)

Abnormality of the eye

TraitKui sageli seda täheldatakse
Wide-set eyesSageli (30–79%)

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
Undescended testesSageli (30–79%)

Abnormality of the respiratory system

TraitKui sageli seda täheldatakse
Increased respiratory rate or depth of breathingPole registreeritud

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 ABCD4 and how often each is seen. Find out more at hpo.jax.org.

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