Požymiai

Su SMARCB1 susiję požymiai

SWI/SNF related BAF chromatin remodeling complex subunit B1

Žmogaus fenotipo ontologija sieja 185 požymių su SMARCB1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased circulating ACTH concentration	Dažnai (30–79%)
Decreased circulating follicle stimulating hormone concentration	Dažnai (30–79%)
Decreased circulating luteinizing hormone level	Dažnai (30–79%)
Decreased serum estradiol	Dažnai (30–79%)
Decreased serum testosterone level	Dažnai (30–79%)
Hypogonadotropic hypogonadism	Dažnai (30–79%)
Increased circulating prolactin concentration	Dažnai (30–79%)
Low blood cortisol level	Dažnai (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Dažnai (30–79%)
Secondary growth hormone deficiency	Dažnai (30–79%)
Abnormal hypothalamus physiology	Kartais (5–29%)
Enlarged pituitary gland	Kartais (5–29%)
Hypothalamic hypothyroidism	Kartais (5–29%)
Neoplasm of the anterior pituitary	Kartais (5–29%)
Reduced circulating prolactin concentration	Kartais (5–29%)
Neoplasm of the posterior pituitary	Retai (1–4 %)
Papillary thyroid carcinoma	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Bitemporal hemianopia	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Visual impairment	Dažnai (30–79%)
Abnormal kinetic perimetry test	Kartais (5–29%)
Close sighted	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Eye muscle paralysis	Kartais (5–29%)
Oculomotor nerve palsy	Kartais (5–29%)
Papilledema	Kartais (5–29%)
Slow decrease in sharpness of vision	Kartais (5–29%)
Visual acuity test abnormality	Kartais (5–29%)
Weak extraocular muscles	Kartais (5–29%)
Blindness	Retai (1–4 %)
Bulging eye	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Delayed bone maturation	Visada
Low muscle tone	Visada
Decreased muscle tone in infant	Dažnai (30–79%)
Double-Jointed	Dažnai (30–79%)
Limitation of joint mobility	Dažnai (30–79%)
Muscle weakness	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abnormal deposits of calcium in the brain	Kartais (5–29%)
Central diaphragmatic hernia	Kartais (5–29%)
Fatty lump	Kartais (5–29%)
Functional motor deficit	Kartais (5–29%)
Hernia	Kartais (5–29%)
Back pain	Retai (1–4 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormality of the heart	Dažnai (30–79%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Lumbosacral hemangioma	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Tetralogy of Fallot	Kartais (5–29%)
Fainting spell	Retai (1–4 %)
Abnormal cardiovascular system morphology	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal absence of menstruation	Dažnai (30–79%)
Abnormality of the genitourinary system	Dažnai (30–79%)
Difficulty getting a full erection	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Horseshoe kidney	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Uterine leiomyoma	Kartais (5–29%)
Loss of bladder control	Retai (1–4 %)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Peripheral schwannoma	Visada
Excessive hair growth	Labai dažnai (80–99%)
Small nail	Labai dažnai (80–99%)
Excessive hairiness	Dažnai (30–79%)
Small fifth toenail	Dažnai (30–79%)
Underdeveloped fifth fingernail	Dažnai (30–79%)
Neurofibroma	Kartais (5–29%)
Skin cancer	Retai (1–4 %)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Short outermost little finger bone	Visada
Curvature of digit	Dažnai (30–79%)
Short 5th finger	Dažnai (30–79%)
Decreased arm strength	Kartais (5–29%)
Lower limb muscle weakness	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Visada
Poor suck	Visada
Nausea and vomiting	Labai dažnai (80–99%)
Inguinal hernia	Dažnai (30–79%)
Hepatoblastoma	Retai (1–4 %)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Visada
Growth delay	Dažnai (30–79%)
Growth delay as children	Dažnai (30–79%)
Prenatal growth deficiency	Dažnai (30–79%)
Obesity	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Hearing impairment	Dažnai (30–79%)
Ringing in ears	Kartais (5–29%)
Ear pain	Retai (1–4 %)
Bilateral vestibular schwannoma	Neužfiksuota

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Chromosomal breakage induced by ionizing radiation	Labai dažnai (80–99%)
Increased sensitivity to ionizing radiation	Labai dažnai (80–99%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Aspiration pneumonia	Dažnai (30–79%)
Recurrent infections	Dažnai (30–79%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormality on pulmonary function testing	Retai (1–4 %)
Progressive pulmonary function impairment	Retai (1–4 %)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Abnormal tissue mass	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bleeding in brain	Retai (1–4 %)

Abnormality of the thoracic cavity

Požymis	Kaip dažnai pasireiškia
Abnormal mediastinum morphology	Retai (1–4 %)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Weak voice	Retai (1–4 %)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Pain	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su SMARCB1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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