Požymiai

Su TPM2 susiję požymiai

tropomyosin 2

Žmogaus fenotipo ontologija sieja 183 požymių su TPM2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

TPM2

Abnormality of the musculoskeletal system

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

Abnormality of limbs

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

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormal gait	Visada
Motor delay	Visada
Absent reflexes	Dažnai (30–79%)
Clumsiness	Dažnai (30–79%)
Decreased reflex response	Dažnai (30–79%)
Diminished deep tendon reflex	Dažnai (30–79%)
Psychosis	Dažnai (30–79%)
Slow movements	Dažnai (30–79%)
Bulbar signs	Kartais (5–29%)
Decreased muscle movement	Kartais (5–29%)
Delayed ability to walk	Kartais (5–29%)
Difficulty sleeping	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Falls	Kartais (5–29%)
Headache	Kartais (5–29%)
Schizophrenia	Kartais (5–29%)
Toe walking	Kartais (5–29%)
Waddling gait	Kartais (5–29%)
Poor fine motor coordination	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Webbed neck	Labai dažnai (80–99%)
Bell's palsy	Dažnai (30–79%)
Dental crowding	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Long face	Dažnai (30–79%)
Myopathic facies	Dažnai (30–79%)
Narrow face	Dažnai (30–79%)
Short neck	Dažnai (30–79%)
Weakness of facial musculature	Dažnai (30–79%)
Wide nasal bridge	Dažnai (30–79%)
Chewing difficulties	Kartais (5–29%)
Facial diplegia	Kartais (5–29%)
Narrow mouth	Kartais (5–29%)
Decrease in jaw mobility	Neužfiksuota
Long nasal bridge	Neužfiksuota
Receding chin	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormality of the heart	Kartais (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Kartais (5–29%)
Cor pulmonale	Kartais (5–29%)
Disease of the heart muscle	Kartais (5–29%)
Mitral valve prolapse	Kartais (5–29%)
Myofiber disarray	Kartais (5–29%)
Reduced systolic function	Kartais (5–29%)
Sinus tachycardia	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormality of the respiratory system	Dažnai (30–79%)
Respiratory function loss	Dažnai (30–79%)
Central hypoventilation	Kartais (5–29%)
High blood carbon dioxide level	Kartais (5–29%)
Low blood oxygen level	Kartais (5–29%)
Nocturnal hypoventilation	Kartais (5–29%)
Reduced vital capacity	Kartais (5–29%)
Respiratory failure	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Dažnai (30–79%)
Feeding difficulties in infancy	Dažnai (30–79%)
Neuromuscular dysphagia	Dažnai (30–79%)
Poor appetite	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Nasogastric tube feeding in infancy	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Feet or buttocks of fetus positioned near opening of uterus	Kartais (5–29%)
Fetal akinesia sequence	Kartais (5–29%)
High levels of amniotic fluid	Kartais (5–29%)
Less than 10 fetal movements in 12 hours	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Prominent ear	Dažnai (30–79%)
Round ear	Dažnai (30–79%)
Sensorineural hearing impairment	Retai (1–4 %)
Low-set ears	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Short stature	Dažnai (30–79%)
Weight loss	Dažnai (30–79%)
Slender build	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Drooping upper eyelid	Kartais (5–29%)
Eye muscle paralysis	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Decreased ability to exercise	Dažnai (30–79%)
Fatigue	Dažnai (30–79%)
Exercise-induced muscle pain	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Elevated blood creatine phosphokinase	Dažnai (30–79%)
Increased muscle lipid content	Dažnai (30–79%)
Mildly elevated creatine kinase	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Aspiration pneumonia	Kartais (5–29%)
Recurrent respiratory infections	Kartais (5–29%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Hoarse voice	Kartais (5–29%)
Nasal speech	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Nemaline bodies	Labai dažnai (80–99%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Undescended testes	Neužfiksuota

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

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su TPM2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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