Egenskaper

Egenskaper kopplade till TPM2

tropomyosin 2

Human Phenotype Ontology kopplar 183 egenskaper till TPM2, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

TPM2

Abnormality of the musculoskeletal system

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

Abnormality of limbs

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

Abnormality of the nervous system

Egenskap	Hur ofta den förekommer
Abnormal gait	Alltid
Motor delay	Alltid
Absent reflexes	Ofta (30–79 %)
Clumsiness	Ofta (30–79 %)
Decreased reflex response	Ofta (30–79 %)
Diminished deep tendon reflex	Ofta (30–79 %)
Psychosis	Ofta (30–79 %)
Slow movements	Ofta (30–79 %)
Bulbar signs	Ibland (5–29 %)
Decreased muscle movement	Ibland (5–29 %)
Delayed ability to walk	Ibland (5–29 %)
Difficulty sleeping	Ibland (5–29 %)
Epilepsy	Ibland (5–29 %)
Falls	Ibland (5–29 %)
Headache	Ibland (5–29 %)
Schizophrenia	Ibland (5–29 %)
Toe walking	Ibland (5–29 %)
Waddling gait	Ibland (5–29 %)
Poor fine motor coordination	Inte registrerat

Abnormality of head or neck

Egenskap	Hur ofta den förekommer
Webbed neck	Mycket ofta (80–99 %)
Bell's palsy	Ofta (30–79 %)
Dental crowding	Ofta (30–79 %)
High palate	Ofta (30–79 %)
Little lower jaw	Ofta (30–79 %)
Long face	Ofta (30–79 %)
Myopathic facies	Ofta (30–79 %)
Narrow face	Ofta (30–79 %)
Short neck	Ofta (30–79 %)
Weakness of facial musculature	Ofta (30–79 %)
Wide nasal bridge	Ofta (30–79 %)
Chewing difficulties	Ibland (5–29 %)
Facial diplegia	Ibland (5–29 %)
Narrow mouth	Ibland (5–29 %)
Decrease in jaw mobility	Inte registrerat
Long nasal bridge	Inte registrerat
Receding chin	Inte registrerat

Abnormality of the cardiovascular system

Egenskap	Hur ofta den förekommer
Abnormality of the heart	Ibland (5–29 %)
Bulge in wall of root of large artery that carries blood away from heart	Ibland (5–29 %)
Cor pulmonale	Ibland (5–29 %)
Disease of the heart muscle	Ibland (5–29 %)
Mitral valve prolapse	Ibland (5–29 %)
Myofiber disarray	Ibland (5–29 %)
Reduced systolic function	Ibland (5–29 %)
Sinus tachycardia	Ibland (5–29 %)

Abnormality of the respiratory system

Egenskap	Hur ofta den förekommer
Abnormality of the respiratory system	Ofta (30–79 %)
Respiratory function loss	Ofta (30–79 %)
Central hypoventilation	Ibland (5–29 %)
High blood carbon dioxide level	Ibland (5–29 %)
Low blood oxygen level	Ibland (5–29 %)
Nocturnal hypoventilation	Ibland (5–29 %)
Reduced vital capacity	Ibland (5–29 %)
Respiratory failure	Ibland (5–29 %)

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Feeding difficulties	Ofta (30–79 %)
Feeding difficulties in infancy	Ofta (30–79 %)
Neuromuscular dysphagia	Ofta (30–79 %)
Poor appetite	Ofta (30–79 %)
Poor swallowing	Ofta (30–79 %)
Nasogastric tube feeding in infancy	Ibland (5–29 %)

Abnormality of prenatal development or birth

Egenskap	Hur ofta den förekommer
Feet or buttocks of fetus positioned near opening of uterus	Ibland (5–29 %)
Fetal akinesia sequence	Ibland (5–29 %)
High levels of amniotic fluid	Ibland (5–29 %)
Less than 10 fetal movements in 12 hours	Ibland (5–29 %)

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Prominent ear	Ofta (30–79 %)
Round ear	Ofta (30–79 %)
Sensorineural hearing impairment	Sällan (1–4%)
Low-set ears	Inte registrerat

Growth abnormality

Egenskap	Hur ofta den förekommer
Faltering weight	Ofta (30–79 %)
Short stature	Ofta (30–79 %)
Weight loss	Ofta (30–79 %)
Slender build	Ibland (5–29 %)

Abnormality of the eye

Egenskap	Hur ofta den förekommer
Drooping upper eyelid	Ibland (5–29 %)
Eye muscle paralysis	Ibland (5–29 %)
Wide-set eyes	Ibland (5–29 %)

Constitutional symptom

Egenskap	Hur ofta den förekommer
Decreased ability to exercise	Ofta (30–79 %)
Fatigue	Ofta (30–79 %)
Exercise-induced muscle pain	Ibland (5–29 %)

Laboratory abnormality

Egenskap	Hur ofta den förekommer
Elevated blood creatine phosphokinase	Ofta (30–79 %)
Increased muscle lipid content	Ofta (30–79 %)
Mildly elevated creatine kinase	Ibland (5–29 %)

Abnormality of the immune system

Egenskap	Hur ofta den förekommer
Aspiration pneumonia	Ibland (5–29 %)
Recurrent respiratory infections	Ibland (5–29 %)

Abnormality of the voice

Egenskap	Hur ofta den förekommer
Hoarse voice	Ibland (5–29 %)
Nasal speech	Ibland (5–29 %)

Abnormal cellular phenotype

Egenskap	Hur ofta den förekommer
Nemaline bodies	Mycket ofta (80–99 %)

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Undescended testes	Inte registrerat

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till TPM2 och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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