Traits

Traits linked to TAB2

TGF-beta activated kinase 1 (MAP3K7) binding protein 2

The Human Phenotype Ontology links 11 traits to TAB2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Aortic regurgitation	Alati
Aortic valve has two leaflets rather than three	Sageli (30–79%)
Bulge in wall of large artery that carries blood away from heart	Sageli (30–79%)
Cardiac failure	Sageli (30–79%)
Left ventricular outflow tract obstruction	Sageli (30–79%)
Narrowing of blood vessel below aortic heart valve	Sageli (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Sageli (30–79%)
Hole in heart wall separating two lower heart chambers	Pole registreeritud
Myxomatous mitral valve degeneration	Pole registreeritud
Narrowing of aortic valve	Pole registreeritud
Tetralogy of Fallot	Pole 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 TAB2 and how often each is seen. Find out more at hpo.jax.org.

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