특성

TPM2 연관 특성

tropomyosin 2

인간 표현형 온톨로지가 TPM2에 연결하는 특성은 183개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of the musculoskeletal system

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

Abnormality of limbs

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

Abnormality of the nervous system

특성	나타나는 빈도
Abnormal gait	항상
Motor delay	항상
Absent reflexes	자주 (30–79%)
Clumsiness	자주 (30–79%)
Decreased reflex response	자주 (30–79%)
Diminished deep tendon reflex	자주 (30–79%)
Psychosis	자주 (30–79%)
Slow movements	자주 (30–79%)
Bulbar signs	가끔 (5–29%)
Decreased muscle movement	가끔 (5–29%)
Delayed ability to walk	가끔 (5–29%)
Difficulty sleeping	가끔 (5–29%)
Epilepsy	가끔 (5–29%)
Falls	가끔 (5–29%)
Headache	가끔 (5–29%)
Schizophrenia	가끔 (5–29%)
Toe walking	가끔 (5–29%)
Waddling gait	가끔 (5–29%)
Poor fine motor coordination	기록되지 않음

Abnormality of head or neck

특성	나타나는 빈도
Webbed neck	매우 자주 (80–99%)
Bell's palsy	자주 (30–79%)
Dental crowding	자주 (30–79%)
High palate	자주 (30–79%)
Little lower jaw	자주 (30–79%)
Long face	자주 (30–79%)
Myopathic facies	자주 (30–79%)
Narrow face	자주 (30–79%)
Short neck	자주 (30–79%)
Weakness of facial musculature	자주 (30–79%)
Wide nasal bridge	자주 (30–79%)
Chewing difficulties	가끔 (5–29%)
Facial diplegia	가끔 (5–29%)
Narrow mouth	가끔 (5–29%)
Decrease in jaw mobility	기록되지 않음
Long nasal bridge	기록되지 않음
Receding chin	기록되지 않음

Abnormality of the cardiovascular system

특성	나타나는 빈도
Abnormality of the heart	가끔 (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	가끔 (5–29%)
Cor pulmonale	가끔 (5–29%)
Disease of the heart muscle	가끔 (5–29%)
Mitral valve prolapse	가끔 (5–29%)
Myofiber disarray	가끔 (5–29%)
Reduced systolic function	가끔 (5–29%)
Sinus tachycardia	가끔 (5–29%)

Abnormality of the respiratory system

특성	나타나는 빈도
Abnormality of the respiratory system	자주 (30–79%)
Respiratory function loss	자주 (30–79%)
Central hypoventilation	가끔 (5–29%)
High blood carbon dioxide level	가끔 (5–29%)
Low blood oxygen level	가끔 (5–29%)
Nocturnal hypoventilation	가끔 (5–29%)
Reduced vital capacity	가끔 (5–29%)
Respiratory failure	가끔 (5–29%)

Abnormality of the digestive system

특성	나타나는 빈도
Feeding difficulties	자주 (30–79%)
Feeding difficulties in infancy	자주 (30–79%)
Neuromuscular dysphagia	자주 (30–79%)
Poor appetite	자주 (30–79%)
Poor swallowing	자주 (30–79%)
Nasogastric tube feeding in infancy	가끔 (5–29%)

Abnormality of prenatal development or birth

특성	나타나는 빈도
Feet or buttocks of fetus positioned near opening of uterus	가끔 (5–29%)
Fetal akinesia sequence	가끔 (5–29%)
High levels of amniotic fluid	가끔 (5–29%)
Less than 10 fetal movements in 12 hours	가끔 (5–29%)

Abnormality of the ear

특성	나타나는 빈도
Prominent ear	자주 (30–79%)
Round ear	자주 (30–79%)
Sensorineural hearing impairment	드물게 (1–4%)
Low-set ears	기록되지 않음

Growth abnormality

특성	나타나는 빈도
Faltering weight	자주 (30–79%)
Short stature	자주 (30–79%)
Weight loss	자주 (30–79%)
Slender build	가끔 (5–29%)

Abnormality of the eye

특성	나타나는 빈도
Drooping upper eyelid	가끔 (5–29%)
Eye muscle paralysis	가끔 (5–29%)
Wide-set eyes	가끔 (5–29%)

Constitutional symptom

특성	나타나는 빈도
Decreased ability to exercise	자주 (30–79%)
Fatigue	자주 (30–79%)
Exercise-induced muscle pain	가끔 (5–29%)

Laboratory abnormality

특성	나타나는 빈도
Elevated blood creatine phosphokinase	자주 (30–79%)
Increased muscle lipid content	자주 (30–79%)
Mildly elevated creatine kinase	가끔 (5–29%)

Abnormality of the immune system

특성	나타나는 빈도
Aspiration pneumonia	가끔 (5–29%)
Recurrent respiratory infections	가끔 (5–29%)

Abnormality of the voice

특성	나타나는 빈도
Hoarse voice	가끔 (5–29%)
Nasal speech	가끔 (5–29%)

Abnormal cellular phenotype

특성	나타나는 빈도
Nemaline bodies	매우 자주 (80–99%)

Abnormality of the genitourinary system

특성	나타나는 빈도
Undescended testes	기록되지 않음

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: TPM2에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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