Požymiai

Su NF2 susiję požymiai

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

Žmogaus fenotipo ontologija sieja 131 požymį su NF2: tai požymis, pastebimas žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

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

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Juvenile posterior subcapsular lenticular opacities	Labai dažnai (80–99%)
Abnormality of the eye	Dažnai (30–79%)
Bitemporal hemianopia	Dažnai (30–79%)
Clouding of the lens of the eye	Dažnai (30–79%)
Cortical cataract	Dažnai (30–79%)
Decreased clarity of vision	Dažnai (30–79%)
Posterior subcapsular cataract	Dažnai (30–79%)
Abnormal kinetic perimetry test	Kartais (5–29%)
Blindness	Kartais (5–29%)
Double vision	Kartais (5–29%)
Epiretinal membrane	Kartais (5–29%)
Eye muscle paralysis	Kartais (5–29%)
Lazy eye	Kartais (5–29%)
Oculomotor nerve palsy	Kartais (5–29%)
Optic nerve issue	Kartais (5–29%)
Papilledema	Kartais (5–29%)
Slow decrease in sharpness of vision	Kartais (5–29%)
Visual acuity test abnormality	Kartais (5–29%)
Visual loss	Kartais (5–29%)
Weak extraocular muscles	Kartais (5–29%)
Bulging eye	Retai (1–4 %)
Remnants of the hyaloid vascular system	Retai (1–4 %)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased circulating ACTH concentration	Dažnai (30–79%)
Decreased circulating follicle stimulating hormone concentration	Dažnai (30–79%)
Decreased circulating luteinizing hormone level	Dažnai (30–79%)
Decreased serum estradiol	Dažnai (30–79%)
Decreased serum testosterone level	Dažnai (30–79%)
Hypogonadotropic hypogonadism	Dažnai (30–79%)
Increased circulating prolactin concentration	Dažnai (30–79%)
Low blood cortisol level	Dažnai (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Dažnai (30–79%)
Secondary growth hormone deficiency	Dažnai (30–79%)
Abnormal hypothalamus physiology	Kartais (5–29%)
Enlarged pituitary gland	Kartais (5–29%)
Hypothalamic hypothyroidism	Kartais (5–29%)
Neoplasm of the anterior pituitary	Kartais (5–29%)
Reduced circulating prolactin concentration	Kartais (5–29%)
Neoplasm of the posterior pituitary	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Bilateral vestibular schwannoma	Labai dažnai (80–99%)
Vestibular schwannoma	Labai dažnai (80–99%)
Hearing impairment	Dažnai (30–79%)
Sensorineural hearing impairment	Dažnai (30–79%)
Unilateral vestibular schwannoma	Dažnai (30–79%)
Dizziness	Kartais (5–29%)
Ringing in ears	Kartais (5–29%)
Ear pain	Retai (1–4 %)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormality of the sense of smell	Kartais (5–29%)
Bell's palsy	Kartais (5–29%)
Retinal hamartoma	Kartais (5–29%)
Lisch nodules	Retai (1–4 %)
Neoplasm of the tongue	Retai (1–4 %)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Birthmark	Dažnai (30–79%)
Peripheral schwannoma	Dažnai (30–79%)
Neurofibroma	Kartais (5–29%)
Patchy darkened skin	Kartais (5–29%)
Skin cancer	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Fatty lump	Kartais (5–29%)
Functional motor deficit	Kartais (5–29%)
Muscle weakness	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Back pain	Retai (1–4 %)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Decreased arm strength	Kartais (5–29%)
Foot drop	Kartais (5–29%)
Lower limb muscle weakness	Kartais (5–29%)
Wrist drop	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal absence of menstruation	Dažnai (30–79%)
Difficulty getting a full erection	Dažnai (30–79%)
Uterine leiomyoma	Kartais (5–29%)
Loss of bladder control	Retai (1–4 %)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Chromosomal breakage induced by ionizing radiation	Labai dažnai (80–99%)
Increased sensitivity to ionizing radiation	Labai dažnai (80–99%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Lumbosacral hemangioma	Kartais (5–29%)
Fainting spell	Retai (1–4 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Nausea and vomiting	Dažnai (30–79%)
Poor swallowing	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormality on pulmonary function testing	Retai (1–4 %)
Progressive pulmonary function impairment	Retai (1–4 %)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Abnormal tissue mass	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bleeding in brain	Retai (1–4 %)

Abnormality of the thoracic cavity

Požymis	Kaip dažnai pasireiškia
Abnormal mediastinum morphology	Retai (1–4 %)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Weak voice	Retai (1–4 %)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Pain	Dažnai (30–79%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Obesity	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su NF2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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