Traits

Traits linked to MTTP

microsomal triglyceride transfer protein

The Human Phenotype Ontology links 68 traits to MTTP, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Abnormality of the nervous system	Labai dažnai (80–99%)
Absent reflexes	Dažnai (30–79%)
Ataxia	Kartais (5–29%)
Babinski sign	Kartais (5–29%)
Difficulty articulating speech	Kartais (5–29%)
High stepping	Kartais (5–29%)
Impaired distal proprioception	Kartais (5–29%)
Impaired proprioception	Kartais (5–29%)
Impaired vibratory sensation	Kartais (5–29%)
Inability to coordinate movements when walking	Kartais (5–29%)
Lack of coordination of movement	Kartais (5–29%)
Positive Romberg sign	Kartais (5–29%)
Upper motor neuron dysfunction	Kartais (5–29%)
Wide based walk	Kartais (5–29%)
CNS demyelination	Neužfiksuota
Peripheral demyelination	Neužfiksuota

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Abnormal circulating apolipoprotein concentration	Labai dažnai (80–99%)
Vitamin E deficiency	Labai dažnai (80–99%)
Decreased circulating cholesterol level	Dažnai (30–79%)
Decreased circulating high-density lipoprotein cholesterol	Dažnai (30–79%)
Decreased circulating LDL-C concentration	Dažnai (30–79%)
Deficient in vitamin D	Dažnai (30–79%)
High blood bilirubin levels	Dažnai (30–79%)
Low albumin	Dažnai (30–79%)
Low blood triglyceride levels	Dažnai (30–79%)
Vitamin A deficiency	Dažnai (30–79%)
Fatty infiltration of liver	Kartais (5–29%)
High liver enzymes	Kartais (5–29%)
Low ESR	Kartais (5–29%)
Abetalipoproteinemia	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Abnormal color vision	Dažnai (30–79%)
Abnormal retinal pigmentation	Dažnai (30–79%)
Difficulties with night vision	Dažnai (30–79%)
Progressive loss of vision	Dažnai (30–79%)
Blind spot	Kartais (5–29%)
Fundus hypopigmentation	Kartais (5–29%)
Rod-cone dystrophy	Kartais (5–29%)
Blindness	Retai (1–4 %)
Corneal ulceration	Retai (1–4 %)
Drooping upper eyelid	Retai (1–4 %)
Eye muscle paralysis	Retai (1–4 %)
Noninflammatory retina disease	Neužfiksuota
Retina degeneration	Neužfiksuota

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Fat in feces	Labai dažnai (80–99%)
Fat malabsorption	Labai dažnai (80–99%)
Chronic diarrhea	Dažnai (30–79%)
Enlarged liver	Kartais (5–29%)
Vomiting	Kartais (5–29%)
Hepatic fibrosis	Retai (1–4 %)
Scar tissue replaces healthy tissue in the liver	Retai (1–4 %)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Acanthocytosis	Labai dažnai (80–99%)
Increased immature red blood cells	Dažnai (30–79%)
Low number of red blood cells or hemoglobin	Dažnai (30–79%)
Prolonged prothrombin time	Kartais (5–29%)
Bleeding tendency	Retai (1–4 %)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Club feet	Kartais (5–29%)
Distal lower limb muscle weakness	Kartais (5–29%)
High-arched foot	Kartais (5–29%)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Kyphoscoliosis	Kartais (5–29%)
Muscle tissue disease	Kartais (5–29%)
Osteopenia	Kartais (5–29%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Cardiac failure	Retai (1–4 %)
Enlarged heart	Retai (1–4 %)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Dry eye syndrome	Retai (1–4 %)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Underactive thyroid	Retai (1–4 %)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Respiratory failure	Retai (1–4 %)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Muscle ache	Dažnai (30–79%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)

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

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