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

Abnormality of the eye

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

Abnormality of the endocrine system

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

Abnormality of the ear

Trait	Ne sıklıkla görüldüğü
Bilateral vestibular schwannoma	Çok sık (%80–99)
Vestibular schwannoma	Çok sık (%80–99)
Hearing impairment	Sık (%30–79)
Sensorineural hearing impairment	Sık (%30–79)
Unilateral vestibular schwannoma	Sık (%30–79)
Dizziness	Bazen (%5–29)
Ringing in ears	Bazen (%5–29)
Ear pain	Seyrek (%1–4)

Abnormality of head or neck

Trait	Ne sıklıkla görüldüğü
Abnormality of the sense of smell	Bazen (%5–29)
Bell's palsy	Bazen (%5–29)
Retinal hamartoma	Bazen (%5–29)
Lisch nodules	Seyrek (%1–4)
Neoplasm of the tongue	Seyrek (%1–4)

Abnormality of the integument

Trait	Ne sıklıkla görüldüğü
Birthmark	Sık (%30–79)
Peripheral schwannoma	Sık (%30–79)
Neurofibroma	Bazen (%5–29)
Patchy darkened skin	Bazen (%5–29)
Skin cancer	Bazen (%5–29)

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Fatty lump	Bazen (%5–29)
Functional motor deficit	Bazen (%5–29)
Muscle weakness	Bazen (%5–29)
Scoliosis	Bazen (%5–29)
Back pain	Seyrek (%1–4)

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Decreased arm strength	Bazen (%5–29)
Foot drop	Bazen (%5–29)
Lower limb muscle weakness	Bazen (%5–29)
Wrist drop	Bazen (%5–29)

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Abnormal absence of menstruation	Sık (%30–79)
Difficulty getting a full erection	Sık (%30–79)
Uterine leiomyoma	Bazen (%5–29)
Loss of bladder control	Seyrek (%1–4)

Abnormal cellular phenotype

Trait	Ne sıklıkla görüldüğü
Chromosomal breakage induced by ionizing radiation	Çok sık (%80–99)
Increased sensitivity to ionizing radiation	Çok sık (%80–99)

Abnormality of the cardiovascular system

Trait	Ne sıklıkla görüldüğü
Lumbosacral hemangioma	Bazen (%5–29)
Fainting spell	Seyrek (%1–4)

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Nausea and vomiting	Sık (%30–79)
Poor swallowing	Bazen (%5–29)

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Abnormality on pulmonary function testing	Seyrek (%1–4)
Progressive pulmonary function impairment	Seyrek (%1–4)

Abnormal tissue mass

Trait	Ne sıklıkla görüldüğü
Abnormal tissue mass	Bazen (%5–29)

Abnormality of blood and blood-forming tissues

Trait	Ne sıklıkla görüldüğü
Bleeding in brain	Seyrek (%1–4)

Abnormality of the thoracic cavity

Trait	Ne sıklıkla görüldüğü
Abnormal mediastinum morphology	Seyrek (%1–4)

Abnormality of the voice

Trait	Ne sıklıkla görüldüğü
Weak voice	Seyrek (%1–4)

Constitutional symptom

Trait	Ne sıklıkla görüldüğü
Pain	Sık (%30–79)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Obesity	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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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