Trăsături

Trăsături asociate cu SMARCB1

SWI/SNF related BAF chromatin remodeling complex subunit B1

Human Phenotype Ontology asociază 185 trăsături cu SMARCB1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

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

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Coarse facial features	Întotdeauna
Delayed eruption of permanent teeth	Întotdeauna
Full lips	Întotdeauna
High palate	Întotdeauna
Long eyelashes	Întotdeauna
Sparse scalp hair	Întotdeauna
Thick eyebrow	Întotdeauna
Wide mouth	Întotdeauna
Wide nose	Întotdeauna
Full lower lip	Foarte des (80–99%)
Prominent eyelashes	Foarte des (80–99%)
Abnormal facial shape	Des (30–79%)
Abnormally large tongue	Des (30–79%)
Abnormally small head	Des (30–79%)
Big calvaria	Des (30–79%)
Broad nasal tip	Des (30–79%)
Broad philtrum	Des (30–79%)
Cleft palate	Des (30–79%)
Delayed eruption of teeth	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Long philtrum	Des (30–79%)
Low frontal hairline	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Recurrent colds	Des (30–79%)
Short nose	Des (30–79%)
Thick nasal alae	Des (30–79%)
Thin red part of the upper lip	Des (30–79%)
Wide nasal base	Des (30–79%)
Abnormality of the sense of smell	Uneori (5–29%)
Bell's palsy	Uneori (5–29%)
Dandy-Walker malformation	Uneori (5–29%)
Neoplasm of the tongue	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased circulating ACTH concentration	Des (30–79%)
Decreased circulating follicle stimulating hormone concentration	Des (30–79%)
Decreased circulating luteinizing hormone level	Des (30–79%)
Decreased serum estradiol	Des (30–79%)
Decreased serum testosterone level	Des (30–79%)
Hypogonadotropic hypogonadism	Des (30–79%)
Increased circulating prolactin concentration	Des (30–79%)
Low blood cortisol level	Des (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Des (30–79%)
Secondary growth hormone deficiency	Des (30–79%)
Abnormal hypothalamus physiology	Uneori (5–29%)
Enlarged pituitary gland	Uneori (5–29%)
Hypothalamic hypothyroidism	Uneori (5–29%)
Neoplasm of the anterior pituitary	Uneori (5–29%)
Reduced circulating prolactin concentration	Uneori (5–29%)
Neoplasm of the posterior pituitary	Rar (1–4%)
Papillary thyroid carcinoma	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bitemporal hemianopia	Des (30–79%)
Cross-eyed	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Visual impairment	Des (30–79%)
Abnormal kinetic perimetry test	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Eye muscle paralysis	Uneori (5–29%)
Oculomotor nerve palsy	Uneori (5–29%)
Papilledema	Uneori (5–29%)
Slow decrease in sharpness of vision	Uneori (5–29%)
Visual acuity test abnormality	Uneori (5–29%)
Weak extraocular muscles	Uneori (5–29%)
Blindness	Rar (1–4%)
Bulging eye	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Delayed bone maturation	Întotdeauna
Low muscle tone	Întotdeauna
Decreased muscle tone in infant	Des (30–79%)
Double-Jointed	Des (30–79%)
Limitation of joint mobility	Des (30–79%)
Muscle weakness	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormal deposits of calcium in the brain	Uneori (5–29%)
Central diaphragmatic hernia	Uneori (5–29%)
Fatty lump	Uneori (5–29%)
Functional motor deficit	Uneori (5–29%)
Hernia	Uneori (5–29%)
Back pain	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormality of the heart	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Lumbosacral hemangioma	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)
Fainting spell	Rar (1–4%)
Abnormal cardiovascular system morphology	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal absence of menstruation	Des (30–79%)
Abnormality of the genitourinary system	Des (30–79%)
Difficulty getting a full erection	Des (30–79%)
Undescended testes	Des (30–79%)
Horseshoe kidney	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Uterine leiomyoma	Uneori (5–29%)
Loss of bladder control	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Peripheral schwannoma	Întotdeauna
Excessive hair growth	Foarte des (80–99%)
Small nail	Foarte des (80–99%)
Excessive hairiness	Des (30–79%)
Small fifth toenail	Des (30–79%)
Underdeveloped fifth fingernail	Des (30–79%)
Neurofibroma	Uneori (5–29%)
Skin cancer	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Short outermost little finger bone	Întotdeauna
Curvature of digit	Des (30–79%)
Short 5th finger	Des (30–79%)
Decreased arm strength	Uneori (5–29%)
Lower limb muscle weakness	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Întotdeauna
Poor suck	Întotdeauna
Nausea and vomiting	Foarte des (80–99%)
Inguinal hernia	Des (30–79%)
Hepatoblastoma	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Întotdeauna
Growth delay	Des (30–79%)
Growth delay as children	Des (30–79%)
Prenatal growth deficiency	Des (30–79%)
Obesity	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Des (30–79%)
Ringing in ears	Uneori (5–29%)
Ear pain	Rar (1–4%)
Bilateral vestibular schwannoma	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Chromosomal breakage induced by ionizing radiation	Foarte des (80–99%)
Increased sensitivity to ionizing radiation	Foarte des (80–99%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Aspiration pneumonia	Des (30–79%)
Recurrent infections	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality on pulmonary function testing	Rar (1–4%)
Progressive pulmonary function impairment	Rar (1–4%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Abnormal tissue mass	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bleeding in brain	Rar (1–4%)

Abnormality of the thoracic cavity

Trăsătură	Cât de frecvent apare
Abnormal mediastinum morphology	Rar (1–4%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Weak voice	Rar (1–4%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Pain	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu SMARCB1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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