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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

TraitCât de frecvent apare
Neck muscle weaknessÎntotdeauna
Proximal neurogenic muscle weaknessÎntotdeauna
Wasting of muscles near the bodyÎntotdeauna
Funnel chestFoarte des (80–99%)
Joint stiffnessFoarte des (80–99%)
Muscle tissue diseaseFoarte des (80–99%)
MyotoniaFoarte des (80–99%)
Absent muscle fiber emerinDes (30–79%)
Back painDes (30–79%)
EMG: myopathic abnormalitiesDes (30–79%)
High shoulder bladeDes (30–79%)
Inability to touch chin to chestDes (30–79%)
Increased variability in muscle fiber diameterDes (30–79%)
Muscle degenerationDes (30–79%)
Reduced spine movementDes (30–79%)
Rimmed vacuolesDes (30–79%)
Type 1 muscle fiber atrophyDes (30–79%)
Hunched backUneori (5–29%)
Inability to make and keep healthy fat tissueUneori (5–29%)
Low muscle toneUneori (5–29%)
Prominent swaybackUneori (5–29%)
ScoliosisUneori (5–29%)
Decreased lung function due to weak breathing musclesRar (1–4%)
Muscular dystrophyNeînregistrat

Abnormality of the cardiovascular system

TraitCât de frecvent apare
Quivering upper heart chambers resulting in irregular heartbeatDes (30–79%)
Interruption of electrical communication between upper and lower chambers of heartUneori (5–29%)
Stretched and thinned heart muscleUneori (5–29%)
Supraventricular arrhythmiaUneori (5–29%)
Enlarged and thickened heart muscleRar (1–4%)
Sudden cardiac deathRar (1–4%)
Ventricular escape rhythmRar (1–4%)
Cardiac failureNeînregistrat
Extra heart beatNeînregistrat
PalpitationsNeînregistrat
PresyncopeNeînregistrat
Prolonged QRS complexNeînregistrat
Right ventricular cardiomyopathyNeînregistrat
Slow heartbeatsNeînregistrat
Ventricular tachycardiaNeînregistrat

Abnormality of limbs

TraitCât de frecvent apare
Limb-girdle muscular dystrophyFoarte des (80–99%)
Elbow flexion contractureDes (30–79%)
Proximal lower limb muscle weaknessDes (30–79%)
Proximal upper limb amyotrophyDes (30–79%)
Proximal upper limb muscle weaknessDes (30–79%)
Shortening of the achilles tendonDes (30–79%)
Wasting of thigh muscleDes (30–79%)
Winged shoulder bladeDes (30–79%)

Abnormality of the nervous system

TraitCât de frecvent apare
Diminished deep tendon reflexFoarte des (80–99%)
Abnormal gaitDes (30–79%)
Toe walkingDes (30–79%)
Waddling gaitDes (30–79%)
Inability to move vocal cordsRar (1–4%)
Disorder of involuntary muscle movementsNeînregistrat
Intellectual disabilityNeînregistrat

Laboratory abnormality

TraitCât de frecvent apare
Elevated blood creatine phosphokinaseFoarte des (80–99%)
Increased circulating LDL levelDes (30–79%)
Increased plasma triglyceridesDes (30–79%)

Abnormality of the ear

TraitCât de frecvent apare
Abnormal speech discriminationNeînregistrat
Hearing impairmentNeînregistrat

Abnormality of the eye

TraitCât de frecvent apare
Drooping upper eyelidUneori (5–29%)

Abnormality of the integument

TraitCât de frecvent apare
IchthyosisUneori (5–29%)

Constitutional symptom

TraitCât de frecvent apare
Chest painNeînregistrat

Growth abnormality

TraitCât de frecvent apare
ObesityUneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

  • 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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