Tunnused

Geeniga NF2 seotud tunnused

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

Inimese fenotüübi ontoloogia seostab geeniga NF2 131 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Juvenile posterior subcapsular lenticular opacities	Väga sageli (80–99%)
Abnormality of the eye	Sageli (30–79%)
Bitemporal hemianopia	Sageli (30–79%)
Clouding of the lens of the eye	Sageli (30–79%)
Cortical cataract	Sageli (30–79%)
Decreased clarity of vision	Sageli (30–79%)
Posterior subcapsular cataract	Sageli (30–79%)
Abnormal kinetic perimetry test	Mõnikord (5–29%)
Blindness	Mõnikord (5–29%)
Double vision	Mõnikord (5–29%)
Epiretinal membrane	Mõnikord (5–29%)
Eye muscle paralysis	Mõnikord (5–29%)
Lazy eye	Mõnikord (5–29%)
Oculomotor nerve palsy	Mõnikord (5–29%)
Optic nerve issue	Mõnikord (5–29%)
Papilledema	Mõnikord (5–29%)
Slow decrease in sharpness of vision	Mõnikord (5–29%)
Visual acuity test abnormality	Mõnikord (5–29%)
Visual loss	Mõnikord (5–29%)
Weak extraocular muscles	Mõnikord (5–29%)
Bulging eye	Harva (1–4%)
Remnants of the hyaloid vascular system	Harva (1–4%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Decreased circulating ACTH concentration	Sageli (30–79%)
Decreased circulating follicle stimulating hormone concentration	Sageli (30–79%)
Decreased circulating luteinizing hormone level	Sageli (30–79%)
Decreased serum estradiol	Sageli (30–79%)
Decreased serum testosterone level	Sageli (30–79%)
Hypogonadotropic hypogonadism	Sageli (30–79%)
Increased circulating prolactin concentration	Sageli (30–79%)
Low blood cortisol level	Sageli (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Sageli (30–79%)
Secondary growth hormone deficiency	Sageli (30–79%)
Abnormal hypothalamus physiology	Mõnikord (5–29%)
Enlarged pituitary gland	Mõnikord (5–29%)
Hypothalamic hypothyroidism	Mõnikord (5–29%)
Neoplasm of the anterior pituitary	Mõnikord (5–29%)
Reduced circulating prolactin concentration	Mõnikord (5–29%)
Neoplasm of the posterior pituitary	Harva (1–4%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Bilateral vestibular schwannoma	Väga sageli (80–99%)
Vestibular schwannoma	Väga sageli (80–99%)
Hearing impairment	Sageli (30–79%)
Sensorineural hearing impairment	Sageli (30–79%)
Unilateral vestibular schwannoma	Sageli (30–79%)
Dizziness	Mõnikord (5–29%)
Ringing in ears	Mõnikord (5–29%)
Ear pain	Harva (1–4%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormality of the sense of smell	Mõnikord (5–29%)
Bell's palsy	Mõnikord (5–29%)
Retinal hamartoma	Mõnikord (5–29%)
Lisch nodules	Harva (1–4%)
Neoplasm of the tongue	Harva (1–4%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Birthmark	Sageli (30–79%)
Peripheral schwannoma	Sageli (30–79%)
Neurofibroma	Mõnikord (5–29%)
Patchy darkened skin	Mõnikord (5–29%)
Skin cancer	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Fatty lump	Mõnikord (5–29%)
Functional motor deficit	Mõnikord (5–29%)
Muscle weakness	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Back pain	Harva (1–4%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Decreased arm strength	Mõnikord (5–29%)
Foot drop	Mõnikord (5–29%)
Lower limb muscle weakness	Mõnikord (5–29%)
Wrist drop	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormal absence of menstruation	Sageli (30–79%)
Difficulty getting a full erection	Sageli (30–79%)
Uterine leiomyoma	Mõnikord (5–29%)
Loss of bladder control	Harva (1–4%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Chromosomal breakage induced by ionizing radiation	Väga sageli (80–99%)
Increased sensitivity to ionizing radiation	Väga sageli (80–99%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Lumbosacral hemangioma	Mõnikord (5–29%)
Fainting spell	Harva (1–4%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Nausea and vomiting	Sageli (30–79%)
Poor swallowing	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Abnormality on pulmonary function testing	Harva (1–4%)
Progressive pulmonary function impairment	Harva (1–4%)

Abnormal tissue mass

Tunnus	Kui sageli seda täheldatakse
Abnormal tissue mass	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Bleeding in brain	Harva (1–4%)

Abnormality of the thoracic cavity

Tunnus	Kui sageli seda täheldatakse
Abnormal mediastinum morphology	Harva (1–4%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Weak voice	Harva (1–4%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Pain	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Obesity	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga NF2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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