특성

SMARCB1 연관 특성

SWI/SNF related BAF chromatin remodeling complex subunit B1

인간 표현형 온톨로지가 SMARCB1에 연결하는 특성은 185개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the endocrine system

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

Abnormality of the eye

특성	나타나는 빈도
Bitemporal hemianopia	자주 (30–79%)
Cross-eyed	자주 (30–79%)
Drooping upper eyelid	자주 (30–79%)
Visual impairment	자주 (30–79%)
Abnormal kinetic perimetry test	가끔 (5–29%)
Close sighted	가끔 (5–29%)
Clouding of the lens of the eye	가끔 (5–29%)
Eye muscle paralysis	가끔 (5–29%)
Oculomotor nerve palsy	가끔 (5–29%)
Papilledema	가끔 (5–29%)
Slow decrease in sharpness of vision	가끔 (5–29%)
Visual acuity test abnormality	가끔 (5–29%)
Weak extraocular muscles	가끔 (5–29%)
Blindness	드물게 (1–4%)
Bulging eye	드물게 (1–4%)

Abnormality of the musculoskeletal system

특성	나타나는 빈도
Delayed bone maturation	항상
Low muscle tone	항상
Decreased muscle tone in infant	자주 (30–79%)
Double-Jointed	자주 (30–79%)
Limitation of joint mobility	자주 (30–79%)
Muscle weakness	자주 (30–79%)
Scoliosis	자주 (30–79%)
Abnormal deposits of calcium in the brain	가끔 (5–29%)
Central diaphragmatic hernia	가끔 (5–29%)
Fatty lump	가끔 (5–29%)
Functional motor deficit	가끔 (5–29%)
Hernia	가끔 (5–29%)
Back pain	드물게 (1–4%)

Abnormality of the cardiovascular system

특성	나타나는 빈도
Abnormality of the heart	자주 (30–79%)
An opening in the wall separating the top two chambers of the heart	가끔 (5–29%)
Hole in heart wall separating two lower heart chambers	가끔 (5–29%)
Lumbosacral hemangioma	가끔 (5–29%)
Patent ductus arteriosus	가끔 (5–29%)
Tetralogy of Fallot	가끔 (5–29%)
Fainting spell	드물게 (1–4%)
Abnormal cardiovascular system morphology	기록되지 않음

Abnormality of the genitourinary system

특성	나타나는 빈도
Abnormal absence of menstruation	자주 (30–79%)
Abnormality of the genitourinary system	자주 (30–79%)
Difficulty getting a full erection	자주 (30–79%)
Undescended testes	자주 (30–79%)
Horseshoe kidney	가끔 (5–29%)
Hypospadias	가끔 (5–29%)
Uterine leiomyoma	가끔 (5–29%)
Loss of bladder control	드물게 (1–4%)

Abnormality of the integument

특성	나타나는 빈도
Peripheral schwannoma	항상
Excessive hair growth	매우 자주 (80–99%)
Small nail	매우 자주 (80–99%)
Excessive hairiness	자주 (30–79%)
Small fifth toenail	자주 (30–79%)
Underdeveloped fifth fingernail	자주 (30–79%)
Neurofibroma	가끔 (5–29%)
Skin cancer	드물게 (1–4%)

Abnormality of limbs

특성	나타나는 빈도
Short outermost little finger bone	항상
Curvature of digit	자주 (30–79%)
Short 5th finger	자주 (30–79%)
Decreased arm strength	가끔 (5–29%)
Lower limb muscle weakness	가끔 (5–29%)

Abnormality of the digestive system

특성	나타나는 빈도
Feeding difficulties	항상
Poor suck	항상
Nausea and vomiting	매우 자주 (80–99%)
Inguinal hernia	자주 (30–79%)
Hepatoblastoma	드물게 (1–4%)

Growth abnormality

특성	나타나는 빈도
Short stature	항상
Growth delay	자주 (30–79%)
Growth delay as children	자주 (30–79%)
Prenatal growth deficiency	자주 (30–79%)
Obesity	가끔 (5–29%)

Abnormality of the ear

특성	나타나는 빈도
Hearing impairment	자주 (30–79%)
Ringing in ears	가끔 (5–29%)
Ear pain	드물게 (1–4%)
Bilateral vestibular schwannoma	기록되지 않음

Abnormal cellular phenotype

특성	나타나는 빈도
Chromosomal breakage induced by ionizing radiation	매우 자주 (80–99%)
Increased sensitivity to ionizing radiation	매우 자주 (80–99%)

Abnormality of the immune system

특성	나타나는 빈도
Aspiration pneumonia	자주 (30–79%)
Recurrent infections	자주 (30–79%)

Abnormality of the respiratory system

특성	나타나는 빈도
Abnormality on pulmonary function testing	드물게 (1–4%)
Progressive pulmonary function impairment	드물게 (1–4%)

Abnormal tissue mass

특성	나타나는 빈도
Abnormal tissue mass	가끔 (5–29%)

Abnormality of blood and blood-forming tissues

특성	나타나는 빈도
Bleeding in brain	드물게 (1–4%)

Abnormality of the thoracic cavity

특성	나타나는 빈도
Abnormal mediastinum morphology	드물게 (1–4%)

Abnormality of the voice

특성	나타나는 빈도
Weak voice	드물게 (1–4%)

Constitutional symptom

특성	나타나는 빈도
Pain	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: SMARCB1에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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