Traits

Traits linked to TMEM43

transmembrane protein 43

The Human Phenotype Ontology links 63 traits to TMEM43, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Neck muscle weakness	Visada
Proximal neurogenic muscle weakness	Visada
Wasting of muscles near the body	Visada
Funnel chest	Labai dažnai (80–99%)
Joint stiffness	Labai dažnai (80–99%)
Muscle tissue disease	Labai dažnai (80–99%)
Myotonia	Labai dažnai (80–99%)
Absent muscle fiber emerin	Dažnai (30–79%)
Back pain	Dažnai (30–79%)
EMG: myopathic abnormalities	Dažnai (30–79%)
High shoulder blade	Dažnai (30–79%)
Inability to touch chin to chest	Dažnai (30–79%)
Increased variability in muscle fiber diameter	Dažnai (30–79%)
Muscle degeneration	Dažnai (30–79%)
Reduced spine movement	Dažnai (30–79%)
Rimmed vacuoles	Dažnai (30–79%)
Type 1 muscle fiber atrophy	Dažnai (30–79%)
Hunched back	Kartais (5–29%)
Inability to make and keep healthy fat tissue	Kartais (5–29%)
Low muscle tone	Kartais (5–29%)
Prominent swayback	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Decreased lung function due to weak breathing muscles	Retai (1–4 %)
Muscular dystrophy	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Quivering upper heart chambers resulting in irregular heartbeat	Dažnai (30–79%)
Interruption of electrical communication between upper and lower chambers of heart	Kartais (5–29%)
Stretched and thinned heart muscle	Kartais (5–29%)
Supraventricular arrhythmia	Kartais (5–29%)
Enlarged and thickened heart muscle	Retai (1–4 %)
Sudden cardiac death	Retai (1–4 %)
Ventricular escape rhythm	Retai (1–4 %)
Cardiac failure	Neužfiksuota
Extra heart beat	Neužfiksuota
Palpitations	Neužfiksuota
Presyncope	Neužfiksuota
Prolonged QRS complex	Neužfiksuota
Right ventricular cardiomyopathy	Neužfiksuota
Slow heartbeats	Neužfiksuota
Ventricular tachycardia	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Limb-girdle muscular dystrophy	Labai dažnai (80–99%)
Elbow flexion contracture	Dažnai (30–79%)
Proximal lower limb muscle weakness	Dažnai (30–79%)
Proximal upper limb amyotrophy	Dažnai (30–79%)
Proximal upper limb muscle weakness	Dažnai (30–79%)
Shortening of the achilles tendon	Dažnai (30–79%)
Wasting of thigh muscle	Dažnai (30–79%)
Winged shoulder blade	Dažnai (30–79%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Diminished deep tendon reflex	Labai dažnai (80–99%)
Abnormal gait	Dažnai (30–79%)
Toe walking	Dažnai (30–79%)
Waddling gait	Dažnai (30–79%)
Inability to move vocal cords	Retai (1–4 %)
Disorder of involuntary muscle movements	Neužfiksuota
Intellectual disability	Neužfiksuota

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Elevated blood creatine phosphokinase	Labai dažnai (80–99%)
Increased circulating LDL level	Dažnai (30–79%)
Increased plasma triglycerides	Dažnai (30–79%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Abnormal speech discrimination	Neužfiksuota
Hearing impairment	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Drooping upper eyelid	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Ichthyosis	Kartais (5–29%)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Chest pain	Neužfiksuota

Growth abnormality

Trait	Kaip dažnai pasireiškia
Obesity	Kartais (5–29%)

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 TMEM43 and how often each is seen. Find out more at hpo.jax.org.

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