Özellikler

TPM2 ile ilişkili özellikler

tropomyosin 2

Human Phenotype Ontology, TPM2 ile ilişkili 183 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

TPM2

Abnormality of the musculoskeletal system

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

Abnormality of limbs

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

Abnormality of the nervous system

Özellik	Ne sıklıkla görüldüğü
Abnormal gait	Her zaman
Motor delay	Her zaman
Absent reflexes	Sık (%30–79)
Clumsiness	Sık (%30–79)
Decreased reflex response	Sık (%30–79)
Diminished deep tendon reflex	Sık (%30–79)
Psychosis	Sık (%30–79)
Slow movements	Sık (%30–79)
Bulbar signs	Bazen (%5–29)
Decreased muscle movement	Bazen (%5–29)
Delayed ability to walk	Bazen (%5–29)
Difficulty sleeping	Bazen (%5–29)
Epilepsy	Bazen (%5–29)
Falls	Bazen (%5–29)
Headache	Bazen (%5–29)
Schizophrenia	Bazen (%5–29)
Toe walking	Bazen (%5–29)
Waddling gait	Bazen (%5–29)
Poor fine motor coordination	Kaydedilmedi

Abnormality of head or neck

Özellik	Ne sıklıkla görüldüğü
Webbed neck	Çok sık (%80–99)
Bell's palsy	Sık (%30–79)
Dental crowding	Sık (%30–79)
High palate	Sık (%30–79)
Little lower jaw	Sık (%30–79)
Long face	Sık (%30–79)
Myopathic facies	Sık (%30–79)
Narrow face	Sık (%30–79)
Short neck	Sık (%30–79)
Weakness of facial musculature	Sık (%30–79)
Wide nasal bridge	Sık (%30–79)
Chewing difficulties	Bazen (%5–29)
Facial diplegia	Bazen (%5–29)
Narrow mouth	Bazen (%5–29)
Decrease in jaw mobility	Kaydedilmedi
Long nasal bridge	Kaydedilmedi
Receding chin	Kaydedilmedi

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Abnormality of the heart	Bazen (%5–29)
Bulge in wall of root of large artery that carries blood away from heart	Bazen (%5–29)
Cor pulmonale	Bazen (%5–29)
Disease of the heart muscle	Bazen (%5–29)
Mitral valve prolapse	Bazen (%5–29)
Myofiber disarray	Bazen (%5–29)
Reduced systolic function	Bazen (%5–29)
Sinus tachycardia	Bazen (%5–29)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Abnormality of the respiratory system	Sık (%30–79)
Respiratory function loss	Sık (%30–79)
Central hypoventilation	Bazen (%5–29)
High blood carbon dioxide level	Bazen (%5–29)
Low blood oxygen level	Bazen (%5–29)
Nocturnal hypoventilation	Bazen (%5–29)
Reduced vital capacity	Bazen (%5–29)
Respiratory failure	Bazen (%5–29)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Feeding difficulties	Sık (%30–79)
Feeding difficulties in infancy	Sık (%30–79)
Neuromuscular dysphagia	Sık (%30–79)
Poor appetite	Sık (%30–79)
Poor swallowing	Sık (%30–79)
Nasogastric tube feeding in infancy	Bazen (%5–29)

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
Feet or buttocks of fetus positioned near opening of uterus	Bazen (%5–29)
Fetal akinesia sequence	Bazen (%5–29)
High levels of amniotic fluid	Bazen (%5–29)
Less than 10 fetal movements in 12 hours	Bazen (%5–29)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Prominent ear	Sık (%30–79)
Round ear	Sık (%30–79)
Sensorineural hearing impairment	Seyrek (%1–4)
Low-set ears	Kaydedilmedi

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Faltering weight	Sık (%30–79)
Short stature	Sık (%30–79)
Weight loss	Sık (%30–79)
Slender build	Bazen (%5–29)

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Drooping upper eyelid	Bazen (%5–29)
Eye muscle paralysis	Bazen (%5–29)
Wide-set eyes	Bazen (%5–29)

Constitutional symptom

Özellik	Ne sıklıkla görüldüğü
Decreased ability to exercise	Sık (%30–79)
Fatigue	Sık (%30–79)
Exercise-induced muscle pain	Bazen (%5–29)

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Elevated blood creatine phosphokinase	Sık (%30–79)
Increased muscle lipid content	Sık (%30–79)
Mildly elevated creatine kinase	Bazen (%5–29)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Aspiration pneumonia	Bazen (%5–29)
Recurrent respiratory infections	Bazen (%5–29)

Abnormality of the voice

Özellik	Ne sıklıkla görüldüğü
Hoarse voice	Bazen (%5–29)
Nasal speech	Bazen (%5–29)

Abnormal cellular phenotype

Özellik	Ne sıklıkla görüldüğü
Nemaline bodies	Çok sık (%80–99)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Undescended testes	Kaydedilmedi

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: TPM2 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

Tek bir test. Ömür boyu yanıtlar.

$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde

Genome Test'imi al