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	Hvor ofte den forekommer
Abnormality of the nervous system	Svært ofte (80–99 %)
Absent reflexes	Ofte (30–79 %)
Ataxia	Noen ganger (5–29 %)
Babinski sign	Noen ganger (5–29 %)
Difficulty articulating speech	Noen ganger (5–29 %)
High stepping	Noen ganger (5–29 %)
Impaired distal proprioception	Noen ganger (5–29 %)
Impaired proprioception	Noen ganger (5–29 %)
Impaired vibratory sensation	Noen ganger (5–29 %)
Inability to coordinate movements when walking	Noen ganger (5–29 %)
Lack of coordination of movement	Noen ganger (5–29 %)
Positive Romberg sign	Noen ganger (5–29 %)
Upper motor neuron dysfunction	Noen ganger (5–29 %)
Wide based walk	Noen ganger (5–29 %)
CNS demyelination	Ikke registrert
Peripheral demyelination	Ikke registrert

Laboratory abnormality

Trait	Hvor ofte den forekommer
Abnormal circulating apolipoprotein concentration	Svært ofte (80–99 %)
Vitamin E deficiency	Svært ofte (80–99 %)
Decreased circulating cholesterol level	Ofte (30–79 %)
Decreased circulating high-density lipoprotein cholesterol	Ofte (30–79 %)
Decreased circulating LDL-C concentration	Ofte (30–79 %)
Deficient in vitamin D	Ofte (30–79 %)
High blood bilirubin levels	Ofte (30–79 %)
Low albumin	Ofte (30–79 %)
Low blood triglyceride levels	Ofte (30–79 %)
Vitamin A deficiency	Ofte (30–79 %)
Fatty infiltration of liver	Noen ganger (5–29 %)
High liver enzymes	Noen ganger (5–29 %)
Low ESR	Noen ganger (5–29 %)
Abetalipoproteinemia	Ikke registrert

Abnormality of the eye

Trait	Hvor ofte den forekommer
Abnormal color vision	Ofte (30–79 %)
Abnormal retinal pigmentation	Ofte (30–79 %)
Difficulties with night vision	Ofte (30–79 %)
Progressive loss of vision	Ofte (30–79 %)
Blind spot	Noen ganger (5–29 %)
Fundus hypopigmentation	Noen ganger (5–29 %)
Rod-cone dystrophy	Noen ganger (5–29 %)
Blindness	Sjelden (1–4%)
Corneal ulceration	Sjelden (1–4%)
Drooping upper eyelid	Sjelden (1–4%)
Eye muscle paralysis	Sjelden (1–4%)
Noninflammatory retina disease	Ikke registrert
Retina degeneration	Ikke registrert

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Fat in feces	Svært ofte (80–99 %)
Fat malabsorption	Svært ofte (80–99 %)
Chronic diarrhea	Ofte (30–79 %)
Enlarged liver	Noen ganger (5–29 %)
Vomiting	Noen ganger (5–29 %)
Hepatic fibrosis	Sjelden (1–4%)
Scar tissue replaces healthy tissue in the liver	Sjelden (1–4%)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Acanthocytosis	Svært ofte (80–99 %)
Increased immature red blood cells	Ofte (30–79 %)
Low number of red blood cells or hemoglobin	Ofte (30–79 %)
Prolonged prothrombin time	Noen ganger (5–29 %)
Bleeding tendency	Sjelden (1–4%)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Club feet	Noen ganger (5–29 %)
Distal lower limb muscle weakness	Noen ganger (5–29 %)
High-arched foot	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Kyphoscoliosis	Noen ganger (5–29 %)
Muscle tissue disease	Noen ganger (5–29 %)
Osteopenia	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Cardiac failure	Sjelden (1–4%)
Enlarged heart	Sjelden (1–4%)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Dry eye syndrome	Sjelden (1–4%)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Underactive thyroid	Sjelden (1–4%)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Respiratory failure	Sjelden (1–4%)

Constitutional symptom

Trait	Hvor ofte den forekommer
Muscle ache	Ofte (30–79 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Faltering weight	Ofte (30–79 %)

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

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