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	How often it is seen
Neck muscle weakness	Always
Proximal neurogenic muscle weakness	Always
Wasting of muscles near the body	Always
Funnel chest	Very often (80–99%)
Joint stiffness	Very often (80–99%)
Muscle tissue disease	Very often (80–99%)
Myotonia	Very often (80–99%)
Absent muscle fiber emerin	Often (30–79%)
Back pain	Often (30–79%)
EMG: myopathic abnormalities	Often (30–79%)
High shoulder blade	Often (30–79%)
Inability to touch chin to chest	Often (30–79%)
Increased variability in muscle fiber diameter	Often (30–79%)
Muscle degeneration	Often (30–79%)
Reduced spine movement	Often (30–79%)
Rimmed vacuoles	Often (30–79%)
Type 1 muscle fiber atrophy	Often (30–79%)
Hunched back	Sometimes (5–29%)
Inability to make and keep healthy fat tissue	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Decreased lung function due to weak breathing muscles	Rarely (1–4%)
Muscular dystrophy	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Quivering upper heart chambers resulting in irregular heartbeat	Often (30–79%)
Interruption of electrical communication between upper and lower chambers of heart	Sometimes (5–29%)
Stretched and thinned heart muscle	Sometimes (5–29%)
Supraventricular arrhythmia	Sometimes (5–29%)
Enlarged and thickened heart muscle	Rarely (1–4%)
Sudden cardiac death	Rarely (1–4%)
Ventricular escape rhythm	Rarely (1–4%)
Cardiac failure	Not recorded
Extra heart beat	Not recorded
Palpitations	Not recorded
Presyncope	Not recorded
Prolonged QRS complex	Not recorded
Right ventricular cardiomyopathy	Not recorded
Slow heartbeats	Not recorded
Ventricular tachycardia	Not recorded

Abnormality of limbs

Trait	How often it is seen
Limb-girdle muscular dystrophy	Very often (80–99%)
Elbow flexion contracture	Often (30–79%)
Proximal lower limb muscle weakness	Often (30–79%)
Proximal upper limb amyotrophy	Often (30–79%)
Proximal upper limb muscle weakness	Often (30–79%)
Shortening of the achilles tendon	Often (30–79%)
Wasting of thigh muscle	Often (30–79%)
Winged shoulder blade	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Diminished deep tendon reflex	Very often (80–99%)
Abnormal gait	Often (30–79%)
Toe walking	Often (30–79%)
Waddling gait	Often (30–79%)
Inability to move vocal cords	Rarely (1–4%)
Disorder of involuntary muscle movements	Not recorded
Intellectual disability	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Very often (80–99%)
Increased circulating LDL level	Often (30–79%)
Increased plasma triglycerides	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Abnormal speech discrimination	Not recorded
Hearing impairment	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Ichthyosis	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Chest pain	Not recorded

Growth abnormality

Trait	How often it is seen
Obesity	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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