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Traits

Traits linked to MFAP5

microfibril associated protein 5

The Human Phenotype Ontology links 49 traits to MFAP5, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

TraitKaip dažnai pasireiškia
Cutis marmorataLabai dažnai (80–99%)
Mucoid extracellular matrix accumulationLabai dažnai (80–99%)
Abnormal left ventricular functionDažnai (30–79%)
Aortic regurgitationDažnai (30–79%)
Aortic tortuosityDažnai (30–79%)
Ascending aortic dissectionDažnai (30–79%)
Descending aortic dissectionDažnai (30–79%)
Enlarged heartDažnai (30–79%)
High blood pressureDažnai (30–79%)
Plaque build-up in arteries supplying blood to heartDažnai (30–79%)
Abdominal aortic aneurysmKartais (5–29%)
Aortic valve has two leaflets rather than threeKartais (5–29%)
Brain aneurysmKartais (5–29%)
Bulge in wall of root of large artery that carries blood away from heartKartais (5–29%)
Carotid artery dilatationKartais (5–29%)
Depleted blood volumeKartais (5–29%)
Descending thoracic aorta aneurysmKartais (5–29%)
Ischemic strokeKartais (5–29%)
Mini strokeKartais (5–29%)
Mitral valve prolapseKartais (5–29%)
Patent ductus arteriosusKartais (5–29%)
Peripheral arterial stenosisKartais (5–29%)
Quivering upper heart chambers resulting in irregular heartbeatKartais (5–29%)
StrokeKartais (5–29%)
Tear in inner wall of large artery that carries blood away from heartKartais (5–29%)
Thoracic aortic aneurysmNeužfiksuota

Abnormality of the musculoskeletal system

TraitKaip dažnai pasireiškia
Abnormality of connective tissueLabai dažnai (80–99%)
Abnormality of the sternumKartais (5–29%)
Funnel chestKartais (5–29%)
Pigeon chestKartais (5–29%)
ScoliosisKartais (5–29%)

Abnormality of the respiratory system

TraitKaip dažnai pasireiškia
Exertional breathlessnessDažnai (30–79%)
Paroxysmal dyspneaDažnai (30–79%)
Collapsed lungKartais (5–29%)
Coughing up bloodKartais (5–29%)

Abnormality of head or neck

TraitKaip dažnai pasireiškia
High palateDažnai (30–79%)
High, narrow palateKartais (5–29%)
Receding chinKartais (5–29%)

Abnormality of blood and blood-forming tissues

TraitKaip dažnai pasireiškia
Bruising susceptibilityKartais (5–29%)
Subarachnoid hemorrhageKartais (5–29%)

Abnormality of limbs

TraitKaip dažnai pasireiškia
Long slender fingersDažnai (30–79%)
Dropped archesKartais (5–29%)

Abnormality of the eye

TraitKaip dažnai pasireiškia
Abnormality of the irisDažnai (30–79%)
Wide-set eyesKartais (5–29%)

Growth abnormality

TraitKaip dažnai pasireiškia
Tall statureKartais (5–29%)
Disproportionate tall statureNeužfiksuota

Abnormality of the digestive system

TraitKaip dažnai pasireiškia
Inguinal herniaKartais (5–29%)

Abnormality of the nervous system

TraitKaip dažnai pasireiškia
Dural ectasiaDažnai (30–79%)

Constitutional symptom

TraitKaip dažnai pasireiškia
Chest painDažnai (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 MFAP5 and how often each is seen. Find out more at hpo.jax.org.

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