Trăsături

Trăsături asociate cu TPM2

tropomyosin 2

Human Phenotype Ontology asociază 183 trăsături cu TPM2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

TPM2

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Joint contracture	Întotdeauna
Neck muscle weakness	Întotdeauna
EMG: myopathic abnormalities	Foarte des (80–99%)
Joint stiffness	Foarte des (80–99%)
Low muscle tone	Foarte des (80–99%)
Muscle tissue disease	Foarte des (80–99%)
Progressive muscle weakness	Foarte des (80–99%)
Scoliosis	Foarte des (80–99%)
Type 1 muscle fiber atrophy	Foarte des (80–99%)
Abnormal muscle fiber morphology	Des (30–79%)
Abnormality of the hip bone	Des (30–79%)
Abnormally shaped skeletal	Des (30–79%)
Axial muscle weakness	Des (30–79%)
Central core regions in muscle fibers	Des (30–79%)
Centrally nucleated skeletal muscle fibers	Des (30–79%)
Decreased lung function due to weak breathing muscles	Des (30–79%)
Fatigable weakness of bulbar muscles	Des (30–79%)
Fatigable weakness of distal limb muscles	Des (30–79%)
Flexed joint that cannot be straightened	Des (30–79%)
Generalized muscle wasting	Des (30–79%)
Increased variability in muscle fiber diameter	Des (30–79%)
Low muscle tone, in neonatal onset	Des (30–79%)
Muscle fiber splitting	Des (30–79%)
Muscle stiffness	Des (30–79%)
Neck flexion weakness	Des (30–79%)
Permanent flexion of the finger or toe	Des (30–79%)
Poor head control	Des (30–79%)
Proximal neurogenic muscle weakness	Des (30–79%)
Reduced spine movement	Des (30–79%)
Tired easily	Des (30–79%)
Type 1 muscle fiber predominance	Des (30–79%)
Vertebral segmentation defect	Des (30–79%)
Weakness of muscles of respiration	Des (30–79%)
Angulated muscle fibers	Uneori (5–29%)
Arthrogryposis multiplex congenita	Uneori (5–29%)
Difficulty running	Uneori (5–29%)
Difficulty walking up stairs	Uneori (5–29%)
Diffuse skeletal muscle wasting	Uneori (5–29%)
Excessive inward curvature of lower spine	Uneori (5–29%)
Fatigable weakness of respiratory muscles	Uneori (5–29%)
Fatiguable weakness of proximal limb muscles	Uneori (5–29%)
Fiber type grouping	Uneori (5–29%)
Frequent falls	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Generalized decreased muscle tone	Uneori (5–29%)
Generalized muscle weakness	Uneori (5–29%)
Gowers sign	Uneori (5–29%)
Kyphoscoliosis	Uneori (5–29%)
Lower limb amyotrophy	Uneori (5–29%)
Muscle weakness between ribs	Uneori (5–29%)
Narrow chest	Uneori (5–29%)
Pigeon chest	Uneori (5–29%)
Poorly developed skeletal musculature	Uneori (5–29%)
Prominent swayback	Uneori (5–29%)
Spasticity and rigidity of muscles	Uneori (5–29%)
Thoracic kyphosis	Uneori (5–29%)
Thoracic scoliosis	Uneori (5–29%)
Hunched back	Rar (1–4%)
Decreased hip abduction	Neînregistrat
Muscle degeneration	Neînregistrat
Stiff shoulders	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Lower limb muscle weakness	Întotdeauna
Aplasia/Hypoplasia of the radius	Foarte des (80–99%)
Bilateral single transverse palmar creases	Foarte des (80–99%)
Inward turned thumb	Foarte des (80–99%)
Overlapping fingers	Foarte des (80–99%)
Absent distal interphalangeal creases	Des (30–79%)
Club feet	Des (30–79%)
Finger bends toward pinky	Des (30–79%)
Foot drop	Des (30–79%)
Fused ankle bones	Des (30–79%)
Limb muscle weakness	Des (30–79%)
Limb-girdle muscle weakness	Des (30–79%)
Permanent flexion of the finger	Des (30–79%)
Rocker bottom foot	Des (30–79%)
Talipes	Des (30–79%)
Ulnar deviation of the hand or of fingers of the hand	Des (30–79%)
Ulnar deviation of the wrist	Des (30–79%)
Ankle flexion contracture	Uneori (5–29%)
Dislocated hip since birth	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Elbow flexion contracture	Uneori (5–29%)
Flexion contracture of finger	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Hip contracture	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Inability to straighten knee	Uneori (5–29%)
Knock knees	Uneori (5–29%)
Outward bow-leggedness	Uneori (5–29%)
Pelvic girdle muscle weakness	Uneori (5–29%)
Pes valgus	Uneori (5–29%)
Weak shoulder muscles	Uneori (5–29%)
Winged shoulder blade	Uneori (5–29%)
Foot and ankle bend up toward shin of leg	Neînregistrat
Hand clenching	Neînregistrat
Joint contracture of the hand	Neînregistrat
Overlapping toe	Neînregistrat
Single transverse palmar crease	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal gait	Întotdeauna
Motor delay	Întotdeauna
Absent reflexes	Des (30–79%)
Clumsiness	Des (30–79%)
Decreased reflex response	Des (30–79%)
Diminished deep tendon reflex	Des (30–79%)
Psychosis	Des (30–79%)
Slow movements	Des (30–79%)
Bulbar signs	Uneori (5–29%)
Decreased muscle movement	Uneori (5–29%)
Delayed ability to walk	Uneori (5–29%)
Difficulty sleeping	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Falls	Uneori (5–29%)
Headache	Uneori (5–29%)
Schizophrenia	Uneori (5–29%)
Toe walking	Uneori (5–29%)
Waddling gait	Uneori (5–29%)
Poor fine motor coordination	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Webbed neck	Foarte des (80–99%)
Bell's palsy	Des (30–79%)
Dental crowding	Des (30–79%)
High palate	Des (30–79%)
Little lower jaw	Des (30–79%)
Long face	Des (30–79%)
Myopathic facies	Des (30–79%)
Narrow face	Des (30–79%)
Short neck	Des (30–79%)
Weakness of facial musculature	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Chewing difficulties	Uneori (5–29%)
Facial diplegia	Uneori (5–29%)
Narrow mouth	Uneori (5–29%)
Decrease in jaw mobility	Neînregistrat
Long nasal bridge	Neînregistrat
Receding chin	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormality of the heart	Uneori (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Uneori (5–29%)
Cor pulmonale	Uneori (5–29%)
Disease of the heart muscle	Uneori (5–29%)
Mitral valve prolapse	Uneori (5–29%)
Myofiber disarray	Uneori (5–29%)
Reduced systolic function	Uneori (5–29%)
Sinus tachycardia	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality of the respiratory system	Des (30–79%)
Respiratory function loss	Des (30–79%)
Central hypoventilation	Uneori (5–29%)
High blood carbon dioxide level	Uneori (5–29%)
Low blood oxygen level	Uneori (5–29%)
Nocturnal hypoventilation	Uneori (5–29%)
Reduced vital capacity	Uneori (5–29%)
Respiratory failure	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Neuromuscular dysphagia	Des (30–79%)
Poor appetite	Des (30–79%)
Poor swallowing	Des (30–79%)
Nasogastric tube feeding in infancy	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Feet or buttocks of fetus positioned near opening of uterus	Uneori (5–29%)
Fetal akinesia sequence	Uneori (5–29%)
High levels of amniotic fluid	Uneori (5–29%)
Less than 10 fetal movements in 12 hours	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Prominent ear	Des (30–79%)
Round ear	Des (30–79%)
Sensorineural hearing impairment	Rar (1–4%)
Low-set ears	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Short stature	Des (30–79%)
Weight loss	Des (30–79%)
Slender build	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Drooping upper eyelid	Uneori (5–29%)
Eye muscle paralysis	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Decreased ability to exercise	Des (30–79%)
Fatigue	Des (30–79%)
Exercise-induced muscle pain	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated blood creatine phosphokinase	Des (30–79%)
Increased muscle lipid content	Des (30–79%)
Mildly elevated creatine kinase	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Aspiration pneumonia	Uneori (5–29%)
Recurrent respiratory infections	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Hoarse voice	Uneori (5–29%)
Nasal speech	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Nemaline bodies	Foarte des (80–99%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Neînregistrat

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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu TPM2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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