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	Cât de frecvent apare
Abnormality of the nervous system	Foarte des (80–99%)
Absent reflexes	Des (30–79%)
Ataxia	Uneori (5–29%)
Babinski sign	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
High stepping	Uneori (5–29%)
Impaired distal proprioception	Uneori (5–29%)
Impaired proprioception	Uneori (5–29%)
Impaired vibratory sensation	Uneori (5–29%)
Inability to coordinate movements when walking	Uneori (5–29%)
Lack of coordination of movement	Uneori (5–29%)
Positive Romberg sign	Uneori (5–29%)
Upper motor neuron dysfunction	Uneori (5–29%)
Wide based walk	Uneori (5–29%)
CNS demyelination	Neînregistrat
Peripheral demyelination	Neînregistrat

Laboratory abnormality

Trait	Cât de frecvent apare
Abnormal circulating apolipoprotein concentration	Foarte des (80–99%)
Vitamin E deficiency	Foarte des (80–99%)
Decreased circulating cholesterol level	Des (30–79%)
Decreased circulating high-density lipoprotein cholesterol	Des (30–79%)
Decreased circulating LDL-C concentration	Des (30–79%)
Deficient in vitamin D	Des (30–79%)
High blood bilirubin levels	Des (30–79%)
Low albumin	Des (30–79%)
Low blood triglyceride levels	Des (30–79%)
Vitamin A deficiency	Des (30–79%)
Fatty infiltration of liver	Uneori (5–29%)
High liver enzymes	Uneori (5–29%)
Low ESR	Uneori (5–29%)
Abetalipoproteinemia	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Abnormal color vision	Des (30–79%)
Abnormal retinal pigmentation	Des (30–79%)
Difficulties with night vision	Des (30–79%)
Progressive loss of vision	Des (30–79%)
Blind spot	Uneori (5–29%)
Fundus hypopigmentation	Uneori (5–29%)
Rod-cone dystrophy	Uneori (5–29%)
Blindness	Rar (1–4%)
Corneal ulceration	Rar (1–4%)
Drooping upper eyelid	Rar (1–4%)
Eye muscle paralysis	Rar (1–4%)
Noninflammatory retina disease	Neînregistrat
Retina degeneration	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Fat in feces	Foarte des (80–99%)
Fat malabsorption	Foarte des (80–99%)
Chronic diarrhea	Des (30–79%)
Enlarged liver	Uneori (5–29%)
Vomiting	Uneori (5–29%)
Hepatic fibrosis	Rar (1–4%)
Scar tissue replaces healthy tissue in the liver	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Acanthocytosis	Foarte des (80–99%)
Increased immature red blood cells	Des (30–79%)
Low number of red blood cells or hemoglobin	Des (30–79%)
Prolonged prothrombin time	Uneori (5–29%)
Bleeding tendency	Rar (1–4%)

Abnormality of limbs

Trait	Cât de frecvent apare
Club feet	Uneori (5–29%)
Distal lower limb muscle weakness	Uneori (5–29%)
High-arched foot	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Kyphoscoliosis	Uneori (5–29%)
Muscle tissue disease	Uneori (5–29%)
Osteopenia	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Cardiac failure	Rar (1–4%)
Enlarged heart	Rar (1–4%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Dry eye syndrome	Rar (1–4%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Underactive thyroid	Rar (1–4%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Respiratory failure	Rar (1–4%)

Constitutional symptom

Trait	Cât de frecvent apare
Muscle ache	Des (30–79%)

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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