Traits

Traits linked to NF2

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

The Human Phenotype Ontology links 131 traits to NF2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

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

Abnormality of the eye

Trait	Milyen gyakran fordul elő
Juvenile posterior subcapsular lenticular opacities	Nagyon gyakran (80–99%)
Abnormality of the eye	Gyakran (30–79%)
Bitemporal hemianopia	Gyakran (30–79%)
Clouding of the lens of the eye	Gyakran (30–79%)
Cortical cataract	Gyakran (30–79%)
Decreased clarity of vision	Gyakran (30–79%)
Posterior subcapsular cataract	Gyakran (30–79%)
Abnormal kinetic perimetry test	Néha (5–29%)
Blindness	Néha (5–29%)
Double vision	Néha (5–29%)
Epiretinal membrane	Néha (5–29%)
Eye muscle paralysis	Néha (5–29%)
Lazy eye	Néha (5–29%)
Oculomotor nerve palsy	Néha (5–29%)
Optic nerve issue	Néha (5–29%)
Papilledema	Néha (5–29%)
Slow decrease in sharpness of vision	Néha (5–29%)
Visual acuity test abnormality	Néha (5–29%)
Visual loss	Néha (5–29%)
Weak extraocular muscles	Néha (5–29%)
Bulging eye	Ritkán (1–4%)
Remnants of the hyaloid vascular system	Ritkán (1–4%)

Abnormality of the endocrine system

Trait	Milyen gyakran fordul elő
Decreased circulating ACTH concentration	Gyakran (30–79%)
Decreased circulating follicle stimulating hormone concentration	Gyakran (30–79%)
Decreased circulating luteinizing hormone level	Gyakran (30–79%)
Decreased serum estradiol	Gyakran (30–79%)
Decreased serum testosterone level	Gyakran (30–79%)
Hypogonadotropic hypogonadism	Gyakran (30–79%)
Increased circulating prolactin concentration	Gyakran (30–79%)
Low blood cortisol level	Gyakran (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Gyakran (30–79%)
Secondary growth hormone deficiency	Gyakran (30–79%)
Abnormal hypothalamus physiology	Néha (5–29%)
Enlarged pituitary gland	Néha (5–29%)
Hypothalamic hypothyroidism	Néha (5–29%)
Neoplasm of the anterior pituitary	Néha (5–29%)
Reduced circulating prolactin concentration	Néha (5–29%)
Neoplasm of the posterior pituitary	Ritkán (1–4%)

Abnormality of the ear

Trait	Milyen gyakran fordul elő
Bilateral vestibular schwannoma	Nagyon gyakran (80–99%)
Vestibular schwannoma	Nagyon gyakran (80–99%)
Hearing impairment	Gyakran (30–79%)
Sensorineural hearing impairment	Gyakran (30–79%)
Unilateral vestibular schwannoma	Gyakran (30–79%)
Dizziness	Néha (5–29%)
Ringing in ears	Néha (5–29%)
Ear pain	Ritkán (1–4%)

Abnormality of head or neck

Trait	Milyen gyakran fordul elő
Abnormality of the sense of smell	Néha (5–29%)
Bell's palsy	Néha (5–29%)
Retinal hamartoma	Néha (5–29%)
Lisch nodules	Ritkán (1–4%)
Neoplasm of the tongue	Ritkán (1–4%)

Abnormality of the integument

Trait	Milyen gyakran fordul elő
Birthmark	Gyakran (30–79%)
Peripheral schwannoma	Gyakran (30–79%)
Neurofibroma	Néha (5–29%)
Patchy darkened skin	Néha (5–29%)
Skin cancer	Néha (5–29%)

Abnormality of the musculoskeletal system

Trait	Milyen gyakran fordul elő
Fatty lump	Néha (5–29%)
Functional motor deficit	Néha (5–29%)
Muscle weakness	Néha (5–29%)
Scoliosis	Néha (5–29%)
Back pain	Ritkán (1–4%)

Abnormality of limbs

Trait	Milyen gyakran fordul elő
Decreased arm strength	Néha (5–29%)
Foot drop	Néha (5–29%)
Lower limb muscle weakness	Néha (5–29%)
Wrist drop	Néha (5–29%)

Abnormality of the genitourinary system

Trait	Milyen gyakran fordul elő
Abnormal absence of menstruation	Gyakran (30–79%)
Difficulty getting a full erection	Gyakran (30–79%)
Uterine leiomyoma	Néha (5–29%)
Loss of bladder control	Ritkán (1–4%)

Abnormal cellular phenotype

Trait	Milyen gyakran fordul elő
Chromosomal breakage induced by ionizing radiation	Nagyon gyakran (80–99%)
Increased sensitivity to ionizing radiation	Nagyon gyakran (80–99%)

Abnormality of the cardiovascular system

Trait	Milyen gyakran fordul elő
Lumbosacral hemangioma	Néha (5–29%)
Fainting spell	Ritkán (1–4%)

Abnormality of the digestive system

Trait	Milyen gyakran fordul elő
Nausea and vomiting	Gyakran (30–79%)
Poor swallowing	Néha (5–29%)

Abnormality of the respiratory system

Trait	Milyen gyakran fordul elő
Abnormality on pulmonary function testing	Ritkán (1–4%)
Progressive pulmonary function impairment	Ritkán (1–4%)

Abnormal tissue mass

Trait	Milyen gyakran fordul elő
Abnormal tissue mass	Néha (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Milyen gyakran fordul elő
Bleeding in brain	Ritkán (1–4%)

Abnormality of the thoracic cavity

Trait	Milyen gyakran fordul elő
Abnormal mediastinum morphology	Ritkán (1–4%)

Abnormality of the voice

Trait	Milyen gyakran fordul elő
Weak voice	Ritkán (1–4%)

Constitutional symptom

Trait	Milyen gyakran fordul elő
Pain	Gyakran (30–79%)

Growth abnormality

Trait	Milyen gyakran fordul elő
Obesity	Néha (5–29%)

Az, hogy milyen gyakran fordul elő a gén valamelyik állapotával élő emberek körében (a leggyakoribb érték, ahogyan a Human Phenotype Ontology rögzíti). Ezek az oldalak tulajdonságokat és az azok mögött álló kutatásokat ismertetik; nem diagnózist jelentenek. A tünetekkel kapcsolatban orvoshoz vagy genetikai tanácsadóhoz érdemes fordulni.

Forrás

The Human Phenotype Ontology, release 2026-09-01: the traits linked to NF2 and how often each is seen. Find out more at hpo.jax.org.

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