Kjennetegn

Kjennetegn knyttet til TPM2

tropomyosin 2

Human Phenotype Ontology knytter 183 kjennetegn til TPM2, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

Abnormality of the musculoskeletal system

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

Abnormality of limbs

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

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
Abnormal gait	Alltid
Motor delay	Alltid
Absent reflexes	Ofte (30–79 %)
Clumsiness	Ofte (30–79 %)
Decreased reflex response	Ofte (30–79 %)
Diminished deep tendon reflex	Ofte (30–79 %)
Psychosis	Ofte (30–79 %)
Slow movements	Ofte (30–79 %)
Bulbar signs	Noen ganger (5–29 %)
Decreased muscle movement	Noen ganger (5–29 %)
Delayed ability to walk	Noen ganger (5–29 %)
Difficulty sleeping	Noen ganger (5–29 %)
Epilepsy	Noen ganger (5–29 %)
Falls	Noen ganger (5–29 %)
Headache	Noen ganger (5–29 %)
Schizophrenia	Noen ganger (5–29 %)
Toe walking	Noen ganger (5–29 %)
Waddling gait	Noen ganger (5–29 %)
Poor fine motor coordination	Ikke registrert

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Webbed neck	Svært ofte (80–99 %)
Bell's palsy	Ofte (30–79 %)
Dental crowding	Ofte (30–79 %)
High palate	Ofte (30–79 %)
Little lower jaw	Ofte (30–79 %)
Long face	Ofte (30–79 %)
Myopathic facies	Ofte (30–79 %)
Narrow face	Ofte (30–79 %)
Short neck	Ofte (30–79 %)
Weakness of facial musculature	Ofte (30–79 %)
Wide nasal bridge	Ofte (30–79 %)
Chewing difficulties	Noen ganger (5–29 %)
Facial diplegia	Noen ganger (5–29 %)
Narrow mouth	Noen ganger (5–29 %)
Decrease in jaw mobility	Ikke registrert
Long nasal bridge	Ikke registrert
Receding chin	Ikke registrert

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Abnormality of the heart	Noen ganger (5–29 %)
Bulge in wall of root of large artery that carries blood away from heart	Noen ganger (5–29 %)
Cor pulmonale	Noen ganger (5–29 %)
Disease of the heart muscle	Noen ganger (5–29 %)
Mitral valve prolapse	Noen ganger (5–29 %)
Myofiber disarray	Noen ganger (5–29 %)
Reduced systolic function	Noen ganger (5–29 %)
Sinus tachycardia	Noen ganger (5–29 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Abnormality of the respiratory system	Ofte (30–79 %)
Respiratory function loss	Ofte (30–79 %)
Central hypoventilation	Noen ganger (5–29 %)
High blood carbon dioxide level	Noen ganger (5–29 %)
Low blood oxygen level	Noen ganger (5–29 %)
Nocturnal hypoventilation	Noen ganger (5–29 %)
Reduced vital capacity	Noen ganger (5–29 %)
Respiratory failure	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Feeding difficulties	Ofte (30–79 %)
Feeding difficulties in infancy	Ofte (30–79 %)
Neuromuscular dysphagia	Ofte (30–79 %)
Poor appetite	Ofte (30–79 %)
Poor swallowing	Ofte (30–79 %)
Nasogastric tube feeding in infancy	Noen ganger (5–29 %)

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
Feet or buttocks of fetus positioned near opening of uterus	Noen ganger (5–29 %)
Fetal akinesia sequence	Noen ganger (5–29 %)
High levels of amniotic fluid	Noen ganger (5–29 %)
Less than 10 fetal movements in 12 hours	Noen ganger (5–29 %)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Prominent ear	Ofte (30–79 %)
Round ear	Ofte (30–79 %)
Sensorineural hearing impairment	Sjelden (1–4%)
Low-set ears	Ikke registrert

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Faltering weight	Ofte (30–79 %)
Short stature	Ofte (30–79 %)
Weight loss	Ofte (30–79 %)
Slender build	Noen ganger (5–29 %)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Drooping upper eyelid	Noen ganger (5–29 %)
Eye muscle paralysis	Noen ganger (5–29 %)
Wide-set eyes	Noen ganger (5–29 %)

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Decreased ability to exercise	Ofte (30–79 %)
Fatigue	Ofte (30–79 %)
Exercise-induced muscle pain	Noen ganger (5–29 %)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Elevated blood creatine phosphokinase	Ofte (30–79 %)
Increased muscle lipid content	Ofte (30–79 %)
Mildly elevated creatine kinase	Noen ganger (5–29 %)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Aspiration pneumonia	Noen ganger (5–29 %)
Recurrent respiratory infections	Noen ganger (5–29 %)

Abnormality of the voice

Kjennetegn	Hvor ofte den forekommer
Hoarse voice	Noen ganger (5–29 %)
Nasal speech	Noen ganger (5–29 %)

Abnormal cellular phenotype

Kjennetegn	Hvor ofte den forekommer
Nemaline bodies	Svært ofte (80–99 %)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Undescended testes	Ikke registrert

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til TPM2 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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