Kenmerken

Kenmerken gekoppeld aan TPM2

tropomyosin 2

De Human Phenotype Ontology koppelt 183 kenmerken aan TPM2, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

TPM2

Abnormality of the musculoskeletal system

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

Abnormality of limbs

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

Abnormality of the nervous system

Kenmerk	Hoe vaak het voorkomt
Abnormal gait	Altijd
Motor delay	Altijd
Absent reflexes	Vaak (30–79%)
Clumsiness	Vaak (30–79%)
Decreased reflex response	Vaak (30–79%)
Diminished deep tendon reflex	Vaak (30–79%)
Psychosis	Vaak (30–79%)
Slow movements	Vaak (30–79%)
Bulbar signs	Soms (5–29%)
Decreased muscle movement	Soms (5–29%)
Delayed ability to walk	Soms (5–29%)
Difficulty sleeping	Soms (5–29%)
Epilepsy	Soms (5–29%)
Falls	Soms (5–29%)
Headache	Soms (5–29%)
Schizophrenia	Soms (5–29%)
Toe walking	Soms (5–29%)
Waddling gait	Soms (5–29%)
Poor fine motor coordination	Niet vastgelegd

Abnormality of head or neck

Kenmerk	Hoe vaak het voorkomt
Webbed neck	Heel vaak (80–99%)
Bell's palsy	Vaak (30–79%)
Dental crowding	Vaak (30–79%)
High palate	Vaak (30–79%)
Little lower jaw	Vaak (30–79%)
Long face	Vaak (30–79%)
Myopathic facies	Vaak (30–79%)
Narrow face	Vaak (30–79%)
Short neck	Vaak (30–79%)
Weakness of facial musculature	Vaak (30–79%)
Wide nasal bridge	Vaak (30–79%)
Chewing difficulties	Soms (5–29%)
Facial diplegia	Soms (5–29%)
Narrow mouth	Soms (5–29%)
Decrease in jaw mobility	Niet vastgelegd
Long nasal bridge	Niet vastgelegd
Receding chin	Niet vastgelegd

Abnormality of the cardiovascular system

Kenmerk	Hoe vaak het voorkomt
Abnormality of the heart	Soms (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Soms (5–29%)
Cor pulmonale	Soms (5–29%)
Disease of the heart muscle	Soms (5–29%)
Mitral valve prolapse	Soms (5–29%)
Myofiber disarray	Soms (5–29%)
Reduced systolic function	Soms (5–29%)
Sinus tachycardia	Soms (5–29%)

Abnormality of the respiratory system

Kenmerk	Hoe vaak het voorkomt
Abnormality of the respiratory system	Vaak (30–79%)
Respiratory function loss	Vaak (30–79%)
Central hypoventilation	Soms (5–29%)
High blood carbon dioxide level	Soms (5–29%)
Low blood oxygen level	Soms (5–29%)
Nocturnal hypoventilation	Soms (5–29%)
Reduced vital capacity	Soms (5–29%)
Respiratory failure	Soms (5–29%)

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Feeding difficulties	Vaak (30–79%)
Feeding difficulties in infancy	Vaak (30–79%)
Neuromuscular dysphagia	Vaak (30–79%)
Poor appetite	Vaak (30–79%)
Poor swallowing	Vaak (30–79%)
Nasogastric tube feeding in infancy	Soms (5–29%)

Abnormality of prenatal development or birth

Kenmerk	Hoe vaak het voorkomt
Feet or buttocks of fetus positioned near opening of uterus	Soms (5–29%)
Fetal akinesia sequence	Soms (5–29%)
High levels of amniotic fluid	Soms (5–29%)
Less than 10 fetal movements in 12 hours	Soms (5–29%)

Abnormality of the ear

Kenmerk	Hoe vaak het voorkomt
Prominent ear	Vaak (30–79%)
Round ear	Vaak (30–79%)
Sensorineural hearing impairment	Zelden (1–4%)
Low-set ears	Niet vastgelegd

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Faltering weight	Vaak (30–79%)
Short stature	Vaak (30–79%)
Weight loss	Vaak (30–79%)
Slender build	Soms (5–29%)

Abnormality of the eye

Kenmerk	Hoe vaak het voorkomt
Drooping upper eyelid	Soms (5–29%)
Eye muscle paralysis	Soms (5–29%)
Wide-set eyes	Soms (5–29%)

Constitutional symptom

Kenmerk	Hoe vaak het voorkomt
Decreased ability to exercise	Vaak (30–79%)
Fatigue	Vaak (30–79%)
Exercise-induced muscle pain	Soms (5–29%)

Laboratory abnormality

Kenmerk	Hoe vaak het voorkomt
Elevated blood creatine phosphokinase	Vaak (30–79%)
Increased muscle lipid content	Vaak (30–79%)
Mildly elevated creatine kinase	Soms (5–29%)

Abnormality of the immune system

Kenmerk	Hoe vaak het voorkomt
Aspiration pneumonia	Soms (5–29%)
Recurrent respiratory infections	Soms (5–29%)

Abnormality of the voice

Kenmerk	Hoe vaak het voorkomt
Hoarse voice	Soms (5–29%)
Nasal speech	Soms (5–29%)

Abnormal cellular phenotype

Kenmerk	Hoe vaak het voorkomt
Nemaline bodies	Heel vaak (80–99%)

Abnormality of the genitourinary system

Kenmerk	Hoe vaak het voorkomt
Undescended testes	Niet vastgelegd

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan TPM2 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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