Tunnused

Geeniga TPM2 seotud tunnused

tropomyosin 2

Inimese fenotüübi ontoloogia seostab geeniga TPM2 183 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the musculoskeletal system

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

Abnormality of limbs

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

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Abnormal gait	Alati
Motor delay	Alati
Absent reflexes	Sageli (30–79%)
Clumsiness	Sageli (30–79%)
Decreased reflex response	Sageli (30–79%)
Diminished deep tendon reflex	Sageli (30–79%)
Psychosis	Sageli (30–79%)
Slow movements	Sageli (30–79%)
Bulbar signs	Mõnikord (5–29%)
Decreased muscle movement	Mõnikord (5–29%)
Delayed ability to walk	Mõnikord (5–29%)
Difficulty sleeping	Mõnikord (5–29%)
Epilepsy	Mõnikord (5–29%)
Falls	Mõnikord (5–29%)
Headache	Mõnikord (5–29%)
Schizophrenia	Mõnikord (5–29%)
Toe walking	Mõnikord (5–29%)
Waddling gait	Mõnikord (5–29%)
Poor fine motor coordination	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Webbed neck	Väga sageli (80–99%)
Bell's palsy	Sageli (30–79%)
Dental crowding	Sageli (30–79%)
High palate	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Long face	Sageli (30–79%)
Myopathic facies	Sageli (30–79%)
Narrow face	Sageli (30–79%)
Short neck	Sageli (30–79%)
Weakness of facial musculature	Sageli (30–79%)
Wide nasal bridge	Sageli (30–79%)
Chewing difficulties	Mõnikord (5–29%)
Facial diplegia	Mõnikord (5–29%)
Narrow mouth	Mõnikord (5–29%)
Decrease in jaw mobility	Pole registreeritud
Long nasal bridge	Pole registreeritud
Receding chin	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the heart	Mõnikord (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Mõnikord (5–29%)
Cor pulmonale	Mõnikord (5–29%)
Disease of the heart muscle	Mõnikord (5–29%)
Mitral valve prolapse	Mõnikord (5–29%)
Myofiber disarray	Mõnikord (5–29%)
Reduced systolic function	Mõnikord (5–29%)
Sinus tachycardia	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the respiratory system	Sageli (30–79%)
Respiratory function loss	Sageli (30–79%)
Central hypoventilation	Mõnikord (5–29%)
High blood carbon dioxide level	Mõnikord (5–29%)
Low blood oxygen level	Mõnikord (5–29%)
Nocturnal hypoventilation	Mõnikord (5–29%)
Reduced vital capacity	Mõnikord (5–29%)
Respiratory failure	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Sageli (30–79%)
Feeding difficulties in infancy	Sageli (30–79%)
Neuromuscular dysphagia	Sageli (30–79%)
Poor appetite	Sageli (30–79%)
Poor swallowing	Sageli (30–79%)
Nasogastric tube feeding in infancy	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Feet or buttocks of fetus positioned near opening of uterus	Mõnikord (5–29%)
Fetal akinesia sequence	Mõnikord (5–29%)
High levels of amniotic fluid	Mõnikord (5–29%)
Less than 10 fetal movements in 12 hours	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Prominent ear	Sageli (30–79%)
Round ear	Sageli (30–79%)
Sensorineural hearing impairment	Harva (1–4%)
Low-set ears	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Short stature	Sageli (30–79%)
Weight loss	Sageli (30–79%)
Slender build	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Drooping upper eyelid	Mõnikord (5–29%)
Eye muscle paralysis	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Decreased ability to exercise	Sageli (30–79%)
Fatigue	Sageli (30–79%)
Exercise-induced muscle pain	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Elevated blood creatine phosphokinase	Sageli (30–79%)
Increased muscle lipid content	Sageli (30–79%)
Mildly elevated creatine kinase	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Aspiration pneumonia	Mõnikord (5–29%)
Recurrent respiratory infections	Mõnikord (5–29%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Hoarse voice	Mõnikord (5–29%)
Nasal speech	Mõnikord (5–29%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Nemaline bodies	Väga sageli (80–99%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Undescended testes	Pole registreeritud

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga TPM2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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