Tratti

Tratti collegati a TPM2

tropomyosin 2

La Human Phenotype Ontology collega 183 tratti a TPM2, per sistema corporeo: caratteristiche osservate in persone con una delle condizioni rare del gene.

Abnormality of the musculoskeletal system

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

Abnormality of limbs

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

Abnormality of the nervous system

Tratto	Frequenza di osservazione
Abnormal gait	Sempre
Motor delay	Sempre
Absent reflexes	Spesso (30–79%)
Clumsiness	Spesso (30–79%)
Decreased reflex response	Spesso (30–79%)
Diminished deep tendon reflex	Spesso (30–79%)
Psychosis	Spesso (30–79%)
Slow movements	Spesso (30–79%)
Bulbar signs	A volte (5–29%)
Decreased muscle movement	A volte (5–29%)
Delayed ability to walk	A volte (5–29%)
Difficulty sleeping	A volte (5–29%)
Epilepsy	A volte (5–29%)
Falls	A volte (5–29%)
Headache	A volte (5–29%)
Schizophrenia	A volte (5–29%)
Toe walking	A volte (5–29%)
Waddling gait	A volte (5–29%)
Poor fine motor coordination	Non registrato

Abnormality of head or neck

Tratto	Frequenza di osservazione
Webbed neck	Molto spesso (80–99%)
Bell's palsy	Spesso (30–79%)
Dental crowding	Spesso (30–79%)
High palate	Spesso (30–79%)
Little lower jaw	Spesso (30–79%)
Long face	Spesso (30–79%)
Myopathic facies	Spesso (30–79%)
Narrow face	Spesso (30–79%)
Short neck	Spesso (30–79%)
Weakness of facial musculature	Spesso (30–79%)
Wide nasal bridge	Spesso (30–79%)
Chewing difficulties	A volte (5–29%)
Facial diplegia	A volte (5–29%)
Narrow mouth	A volte (5–29%)
Decrease in jaw mobility	Non registrato
Long nasal bridge	Non registrato
Receding chin	Non registrato

Abnormality of the cardiovascular system

Tratto	Frequenza di osservazione
Abnormality of the heart	A volte (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	A volte (5–29%)
Cor pulmonale	A volte (5–29%)
Disease of the heart muscle	A volte (5–29%)
Mitral valve prolapse	A volte (5–29%)
Myofiber disarray	A volte (5–29%)
Reduced systolic function	A volte (5–29%)
Sinus tachycardia	A volte (5–29%)

Abnormality of the respiratory system

Tratto	Frequenza di osservazione
Abnormality of the respiratory system	Spesso (30–79%)
Respiratory function loss	Spesso (30–79%)
Central hypoventilation	A volte (5–29%)
High blood carbon dioxide level	A volte (5–29%)
Low blood oxygen level	A volte (5–29%)
Nocturnal hypoventilation	A volte (5–29%)
Reduced vital capacity	A volte (5–29%)
Respiratory failure	A volte (5–29%)

Abnormality of the digestive system

Tratto	Frequenza di osservazione
Feeding difficulties	Spesso (30–79%)
Feeding difficulties in infancy	Spesso (30–79%)
Neuromuscular dysphagia	Spesso (30–79%)
Poor appetite	Spesso (30–79%)
Poor swallowing	Spesso (30–79%)
Nasogastric tube feeding in infancy	A volte (5–29%)

Abnormality of prenatal development or birth

Tratto	Frequenza di osservazione
Feet or buttocks of fetus positioned near opening of uterus	A volte (5–29%)
Fetal akinesia sequence	A volte (5–29%)
High levels of amniotic fluid	A volte (5–29%)
Less than 10 fetal movements in 12 hours	A volte (5–29%)

Abnormality of the ear

Tratto	Frequenza di osservazione
Prominent ear	Spesso (30–79%)
Round ear	Spesso (30–79%)
Sensorineural hearing impairment	Raramente (1–4%)
Low-set ears	Non registrato

Growth abnormality

Tratto	Frequenza di osservazione
Faltering weight	Spesso (30–79%)
Short stature	Spesso (30–79%)
Weight loss	Spesso (30–79%)
Slender build	A volte (5–29%)

Abnormality of the eye

Tratto	Frequenza di osservazione
Drooping upper eyelid	A volte (5–29%)
Eye muscle paralysis	A volte (5–29%)
Wide-set eyes	A volte (5–29%)

Constitutional symptom

Tratto	Frequenza di osservazione
Decreased ability to exercise	Spesso (30–79%)
Fatigue	Spesso (30–79%)
Exercise-induced muscle pain	A volte (5–29%)

Laboratory abnormality

Tratto	Frequenza di osservazione
Elevated blood creatine phosphokinase	Spesso (30–79%)
Increased muscle lipid content	Spesso (30–79%)
Mildly elevated creatine kinase	A volte (5–29%)

Abnormality of the immune system

Tratto	Frequenza di osservazione
Aspiration pneumonia	A volte (5–29%)
Recurrent respiratory infections	A volte (5–29%)

Abnormality of the voice

Tratto	Frequenza di osservazione
Hoarse voice	A volte (5–29%)
Nasal speech	A volte (5–29%)

Abnormal cellular phenotype

Tratto	Frequenza di osservazione
Nemaline bodies	Molto spesso (80–99%)

Abnormality of the genitourinary system

Tratto	Frequenza di osservazione
Undescended testes	Non registrato

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

Human Phenotype Ontology, versione 2026-09-01: i tratti collegati a TPM2 e la frequenza con cui ciascuno viene osservato. Per saperne di più visiti hpo.jax.org.

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