Tunnused

Geeniga SMARCB1 seotud tunnused

SWI/SNF related BAF chromatin remodeling complex subunit B1

Inimese fenotüübi ontoloogia seostab geeniga SMARCB1 185 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Abnormal corpus callosum morphology	Alati
Global developmental delay	Alati
Schwannoma	Alati
Intracranial meningioma	Väga sageli (80–99%)
Irritability	Väga sageli (80–99%)
Lack of feeling, emotion, interest	Väga sageli (80–99%)
Malignant neoplasm of the central nervous system	Väga sageli (80–99%)
Abnormal brain FDG positron emission tomography	Sageli (30–79%)
Ataxia	Sageli (30–79%)
Behavioral abnormality	Sageli (30–79%)
Disturbances of consciousness	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Focal T2 hypointense thalamic lesion	Sageli (30–79%)
Headache	Sageli (30–79%)
Intellectual disability, severe	Sageli (30–79%)
IQ between 34 and 49	Sageli (30–79%)
Migraine	Sageli (30–79%)
Paralysis or weakness of one side of body	Sageli (30–79%)
Seizure affecting one half of brain	Sageli (30–79%)
Small cerebellum	Sageli (30–79%)
Spinal cord tumor	Sageli (30–79%)
Too much cerebrospinal fluid in the brain	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%)
Absent speech development	Mõnikord (5–29%)
Agenesis of corpus callosum	Mõnikord (5–29%)
Aggressive behavior	Mõnikord (5–29%)
Autism spectrum disorder	Mõnikord (5–29%)
Cerebral palsy	Mõnikord (5–29%)
Cognitive impairment	Mõnikord (5–29%)
Cranial nerve paralysis	Mõnikord (5–29%)
Memory impairment	Mõnikord (5–29%)
More active than typical	Mõnikord (5–29%)
Oral aversion	Mõnikord (5–29%)
Pins and needles feeling	Mõnikord (5–29%)
Rise in pressure inside skull	Mõnikord (5–29%)
Simplified gyral pattern	Mõnikord (5–29%)
Spinal meningioma	Mõnikord (5–29%)
Trigeminal neuralgia	Mõnikord (5–29%)
Weakness of one side of body	Mõnikord (5–29%)
Abnormal speech pattern	Harva (1–4%)
Brain stem compression	Harva (1–4%)
Can't control feelings	Harva (1–4%)
Excessive daytime sleepiness	Harva (1–4%)
Muscle twitch	Harva (1–4%)
Noncancerous growth of membranes covering brain	Harva (1–4%)
Numbness	Harva (1–4%)
Spasms on one side of the face	Harva (1–4%)
Transient global amnesia	Harva (1–4%)
Choroid plexus carcinoma	Pole registreeritud
Intellectual disability	Pole registreeritud
Medulloblastoma	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Coarse facial features	Alati
Delayed eruption of permanent teeth	Alati
Full lips	Alati
High palate	Alati
Long eyelashes	Alati
Sparse scalp hair	Alati
Thick eyebrow	Alati
Wide mouth	Alati
Wide nose	Alati
Full lower lip	Väga sageli (80–99%)
Prominent eyelashes	Väga sageli (80–99%)
Abnormal facial shape	Sageli (30–79%)
Abnormally large tongue	Sageli (30–79%)
Abnormally small head	Sageli (30–79%)
Big calvaria	Sageli (30–79%)
Broad nasal tip	Sageli (30–79%)
Broad philtrum	Sageli (30–79%)
Cleft palate	Sageli (30–79%)
Delayed eruption of teeth	Sageli (30–79%)
Depressed nasal bridge	Sageli (30–79%)
Long philtrum	Sageli (30–79%)
Low frontal hairline	Sageli (30–79%)
Nasal tip, upturned	Sageli (30–79%)
Recurrent colds	Sageli (30–79%)
Short nose	Sageli (30–79%)
Thick nasal alae	Sageli (30–79%)
Thin red part of the upper lip	Sageli (30–79%)
Wide nasal base	Sageli (30–79%)
Abnormality of the sense of smell	Mõnikord (5–29%)
Bell's palsy	Mõnikord (5–29%)
Dandy-Walker malformation	Mõnikord (5–29%)
Neoplasm of the tongue	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%)
Papillary thyroid carcinoma	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Bitemporal hemianopia	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Drooping upper eyelid	Sageli (30–79%)
Visual impairment	Sageli (30–79%)
Abnormal kinetic perimetry test	Mõnikord (5–29%)
Close sighted	Mõnikord (5–29%)
Clouding of the lens of the eye	Mõnikord (5–29%)
Eye muscle paralysis	Mõnikord (5–29%)
Oculomotor nerve palsy	Mõnikord (5–29%)
Papilledema	Mõnikord (5–29%)
Slow decrease in sharpness of vision	Mõnikord (5–29%)
Visual acuity test abnormality	Mõnikord (5–29%)
Weak extraocular muscles	Mõnikord (5–29%)
Blindness	Harva (1–4%)
Bulging eye	Harva (1–4%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Delayed bone maturation	Alati
Low muscle tone	Alati
Decreased muscle tone in infant	Sageli (30–79%)
Double-Jointed	Sageli (30–79%)
Limitation of joint mobility	Sageli (30–79%)
Muscle weakness	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Abnormal deposits of calcium in the brain	Mõnikord (5–29%)
Central diaphragmatic hernia	Mõnikord (5–29%)
Fatty lump	Mõnikord (5–29%)
Functional motor deficit	Mõnikord (5–29%)
Hernia	Mõnikord (5–29%)
Back pain	Harva (1–4%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the heart	Sageli (30–79%)
An opening in the wall separating the top two chambers of the heart	Mõnikord (5–29%)
Hole in heart wall separating two lower heart chambers	Mõnikord (5–29%)
Lumbosacral hemangioma	Mõnikord (5–29%)
Patent ductus arteriosus	Mõnikord (5–29%)
Tetralogy of Fallot	Mõnikord (5–29%)
Fainting spell	Harva (1–4%)
Abnormal cardiovascular system morphology	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormal absence of menstruation	Sageli (30–79%)
Abnormality of the genitourinary system	Sageli (30–79%)
Difficulty getting a full erection	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Horseshoe kidney	Mõnikord (5–29%)
Hypospadias	Mõnikord (5–29%)
Uterine leiomyoma	Mõnikord (5–29%)
Loss of bladder control	Harva (1–4%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Peripheral schwannoma	Alati
Excessive hair growth	Väga sageli (80–99%)
Small nail	Väga sageli (80–99%)
Excessive hairiness	Sageli (30–79%)
Small fifth toenail	Sageli (30–79%)
Underdeveloped fifth fingernail	Sageli (30–79%)
Neurofibroma	Mõnikord (5–29%)
Skin cancer	Harva (1–4%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Short outermost little finger bone	Alati
Curvature of digit	Sageli (30–79%)
Short 5th finger	Sageli (30–79%)
Decreased arm strength	Mõnikord (5–29%)
Lower limb muscle weakness	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Alati
Poor suck	Alati
Nausea and vomiting	Väga sageli (80–99%)
Inguinal hernia	Sageli (30–79%)
Hepatoblastoma	Harva (1–4%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Alati
Growth delay	Sageli (30–79%)
Growth delay as children	Sageli (30–79%)
Prenatal growth deficiency	Sageli (30–79%)
Obesity	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Hearing impairment	Sageli (30–79%)
Ringing in ears	Mõnikord (5–29%)
Ear pain	Harva (1–4%)
Bilateral vestibular schwannoma	Pole registreeritud

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 immune system

Tunnus	Kui sageli seda täheldatakse
Aspiration pneumonia	Sageli (30–79%)
Recurrent infections	Sageli (30–79%)

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%)

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 SMARCB1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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