Trăsături

Trăsături asociate cu NF2

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

Human Phenotype Ontology asociază 131 trăsături cu NF2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Schwannoma	Întotdeauna
Intracranial meningioma	Foarte des (80–99%)
Nerve tumor	Foarte des (80–99%)
Abnormal brain FDG positron emission tomography	Des (30–79%)
Epilepsy	Des (30–79%)
Focal T2 hypointense thalamic lesion	Des (30–79%)
Headache	Des (30–79%)
Hyperesthesia	Des (30–79%)
Myelopathy	Des (30–79%)
Noncancerous growth of membranes covering brain	Des (30–79%)
Seizure affecting one half of brain	Des (30–79%)
Spinal cord tumor	Des (30–79%)
Abnormal central motor function	Uneori (5–29%)
Abnormal central sensory function	Uneori (5–29%)
Abnormal gait	Uneori (5–29%)
Abnormality of the cerebellum	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Balance impairment	Uneori (5–29%)
Brain stem compression	Uneori (5–29%)
Cognitive impairment	Uneori (5–29%)
Cranial nerve paralysis	Uneori (5–29%)
Damage to nerves that sense feeling	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Ependymoma	Uneori (5–29%)
Memory impairment	Uneori (5–29%)
Optic nerve sheath meningioma	Uneori (5–29%)
Peripheral nerve disease	Uneori (5–29%)
Pins and needles feeling	Uneori (5–29%)
Rise in pressure inside skull	Uneori (5–29%)
Single damaged nerve	Uneori (5–29%)
Somatic sensory dysfunction	Uneori (5–29%)
Spinal meningioma	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Trigeminal neuralgia	Uneori (5–29%)
Unsteady walk	Uneori (5–29%)
Weakness of one side of body	Uneori (5–29%)
Abnormal speech pattern	Rar (1–4%)
Astrocytoma	Rar (1–4%)
Can't control feelings	Rar (1–4%)
Difficulty finding words	Rar (1–4%)
Excessive daytime sleepiness	Rar (1–4%)
Glioma	Rar (1–4%)
Muscle twitch	Rar (1–4%)
Numbness	Rar (1–4%)
Peripheral neuropathy	Rar (1–4%)
Personality changes	Rar (1–4%)
Spasms on one side of the face	Rar (1–4%)
Transient global amnesia	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Juvenile posterior subcapsular lenticular opacities	Foarte des (80–99%)
Abnormality of the eye	Des (30–79%)
Bitemporal hemianopia	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Cortical cataract	Des (30–79%)
Decreased clarity of vision	Des (30–79%)
Posterior subcapsular cataract	Des (30–79%)
Abnormal kinetic perimetry test	Uneori (5–29%)
Blindness	Uneori (5–29%)
Double vision	Uneori (5–29%)
Epiretinal membrane	Uneori (5–29%)
Eye muscle paralysis	Uneori (5–29%)
Lazy eye	Uneori (5–29%)
Oculomotor nerve palsy	Uneori (5–29%)
Optic nerve issue	Uneori (5–29%)
Papilledema	Uneori (5–29%)
Slow decrease in sharpness of vision	Uneori (5–29%)
Visual acuity test abnormality	Uneori (5–29%)
Visual loss	Uneori (5–29%)
Weak extraocular muscles	Uneori (5–29%)
Bulging eye	Rar (1–4%)
Remnants of the hyaloid vascular system	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased circulating ACTH concentration	Des (30–79%)
Decreased circulating follicle stimulating hormone concentration	Des (30–79%)
Decreased circulating luteinizing hormone level	Des (30–79%)
Decreased serum estradiol	Des (30–79%)
Decreased serum testosterone level	Des (30–79%)
Hypogonadotropic hypogonadism	Des (30–79%)
Increased circulating prolactin concentration	Des (30–79%)
Low blood cortisol level	Des (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Des (30–79%)
Secondary growth hormone deficiency	Des (30–79%)
Abnormal hypothalamus physiology	Uneori (5–29%)
Enlarged pituitary gland	Uneori (5–29%)
Hypothalamic hypothyroidism	Uneori (5–29%)
Neoplasm of the anterior pituitary	Uneori (5–29%)
Reduced circulating prolactin concentration	Uneori (5–29%)
Neoplasm of the posterior pituitary	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Bilateral vestibular schwannoma	Foarte des (80–99%)
Vestibular schwannoma	Foarte des (80–99%)
Hearing impairment	Des (30–79%)
Sensorineural hearing impairment	Des (30–79%)
Unilateral vestibular schwannoma	Des (30–79%)
Dizziness	Uneori (5–29%)
Ringing in ears	Uneori (5–29%)
Ear pain	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormality of the sense of smell	Uneori (5–29%)
Bell's palsy	Uneori (5–29%)
Retinal hamartoma	Uneori (5–29%)
Lisch nodules	Rar (1–4%)
Neoplasm of the tongue	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Birthmark	Des (30–79%)
Peripheral schwannoma	Des (30–79%)
Neurofibroma	Uneori (5–29%)
Patchy darkened skin	Uneori (5–29%)
Skin cancer	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Fatty lump	Uneori (5–29%)
Functional motor deficit	Uneori (5–29%)
Muscle weakness	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Back pain	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Decreased arm strength	Uneori (5–29%)
Foot drop	Uneori (5–29%)
Lower limb muscle weakness	Uneori (5–29%)
Wrist drop	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal absence of menstruation	Des (30–79%)
Difficulty getting a full erection	Des (30–79%)
Uterine leiomyoma	Uneori (5–29%)
Loss of bladder control	Rar (1–4%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Chromosomal breakage induced by ionizing radiation	Foarte des (80–99%)
Increased sensitivity to ionizing radiation	Foarte des (80–99%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Lumbosacral hemangioma	Uneori (5–29%)
Fainting spell	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Nausea and vomiting	Des (30–79%)
Poor swallowing	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality on pulmonary function testing	Rar (1–4%)
Progressive pulmonary function impairment	Rar (1–4%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Abnormal tissue mass	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bleeding in brain	Rar (1–4%)

Abnormality of the thoracic cavity

Trăsătură	Cât de frecvent apare
Abnormal mediastinum morphology	Rar (1–4%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Weak voice	Rar (1–4%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Pain	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Obesity	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu NF2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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