Traits

Traits linked to BAP1

BRCA1 associated deubiquitinase 1

The Human Phenotype Ontology links 148 traits to BAP1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	나타나는 빈도
Delayed speech and language development	항상
Global developmental delay	항상
Intracranial meningioma	매우 자주 (80–99%)
Abnormal brain FDG positron emission tomography	자주 (30–79%)
Attention deficit	자주 (30–79%)
Epilepsy	자주 (30–79%)
Focal T2 hypointense thalamic lesion	자주 (30–79%)
Headache	자주 (30–79%)
Motor delay	자주 (30–79%)
Seizure affecting one half of 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 extrapyramidal motor function	가끔 (5–29%)
Abnormality of the cerebellum	가끔 (5–29%)
Ataxia	가끔 (5–29%)
Autism spectrum disorder	가끔 (5–29%)
Cognitive impairment	가끔 (5–29%)
Cranial nerve paralysis	가끔 (5–29%)
Fourth cranial nerve palsy	가끔 (5–29%)
Memory impairment	가끔 (5–29%)
Noncancerous growth of membranes covering brain	가끔 (5–29%)
Rise in pressure inside skull	가끔 (5–29%)
Spinal meningioma	가끔 (5–29%)
Too much cerebrospinal fluid in the brain	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%)
Spasms on one side of the face	드물게 (1–4%)
Transient global amnesia	드물게 (1–4%)
Intellectual disability	기록되지 않음

Abnormality of the eye

Trait	나타나는 빈도
Bitemporal hemianopia	자주 (30–79%)
Abnormal kinetic perimetry test	가끔 (5–29%)
Astigmatism	가끔 (5–29%)
Cross-eyed	가끔 (5–29%)
Deeply set eye	가끔 (5–29%)
Drooping upper eyelid	가끔 (5–29%)
Exudative vitreoretinopathy	가끔 (5–29%)
Eye muscle paralysis	가끔 (5–29%)
Noninflammatory retina disease	가끔 (5–29%)
Oculomotor nerve palsy	가끔 (5–29%)
Papilledema	가끔 (5–29%)
Severe near sightedness	가끔 (5–29%)
Slow decrease in sharpness of vision	가끔 (5–29%)
Uveal melanoma	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 endocrine system

Trait	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%)

Abnormality of head or neck

Trait	나타나는 빈도
Long philtrum	자주 (30–79%)
Abnormality of the sense of smell	가끔 (5–29%)
Bell's palsy	가끔 (5–29%)
Broad head shape	가끔 (5–29%)
Coarse facial features	가끔 (5–29%)
Downward slanting of the opening between the eyelids	가끔 (5–29%)
Frontal bossing	가끔 (5–29%)
High palate	가끔 (5–29%)
Nasal tip, upturned	가끔 (5–29%)
Short neck	가끔 (5–29%)
Tented mouth	가끔 (5–29%)
Triangular mouth	가끔 (5–29%)
Widely spaced teeth	가끔 (5–29%)
Neoplasm of the tongue	드물게 (1–4%)

Abnormality of the integument

Trait	나타나는 빈도
Mole	매우 자주 (80–99%)
Abnormality of the hair	자주 (30–79%)
Dry skin	자주 (30–79%)
Freckling	자주 (30–79%)
Cutaneous melanoma	가끔 (5–29%)
Excessive hair growth	가끔 (5–29%)
Hair loss	가끔 (5–29%)
Neurofibroma	가끔 (5–29%)
Spinal dimple	가끔 (5–29%)
Skin cancer	드물게 (1–4%)

Abnormality of the respiratory system

Trait	나타나는 빈도
Abnormal pleura morphology	자주 (30–79%)
Breathing difficulties	자주 (30–79%)
Breathing difficulty	자주 (30–79%)
Cough	자주 (30–79%)
Abnormality of lung structure	가끔 (5–29%)
Functional respiratory abnormality	가끔 (5–29%)
Lung adenocarcinoma	가끔 (5–29%)
Abnormality on pulmonary function testing	드물게 (1–4%)
Progressive pulmonary function impairment	드물게 (1–4%)

Abnormality of limbs

Trait	나타나는 빈도
Attachment of thumb close to wrist	가끔 (5–29%)
Club feet	가끔 (5–29%)
Decreased arm strength	가끔 (5–29%)
Finger syndactyly	가끔 (5–29%)
Lower limb muscle weakness	가끔 (5–29%)
Rocker bottom foot	가끔 (5–29%)
Short fingers or toes	가끔 (5–29%)

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Abnormality of the lymphatic system	자주 (30–79%)
Abnormal cardiovascular system physiology	가끔 (5–29%)
Hole in heart wall separating two lower heart chambers	가끔 (5–29%)
Obstruction of the superior vena cava	가끔 (5–29%)
Swollen lymph nodes	가끔 (5–29%)
Fainting spell	드물게 (1–4%)

Abnormality of the digestive system

Trait	나타나는 빈도
Feeding difficulties	자주 (30–79%)
Nausea and vomiting	자주 (30–79%)
Cancer of the pancreas	가끔 (5–29%)
Enlarged liver	가끔 (5–29%)
Poor swallowing	가끔 (5–29%)
Stomach tumor	가끔 (5–29%)

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Abnormality of the chest	자주 (30–79%)
Low muscle tone	자주 (30–79%)
Abnormal formation of the hip	가끔 (5–29%)
Functional motor deficit	가끔 (5–29%)
Scoliosis	가끔 (5–29%)
Back pain	드물게 (1–4%)

Abnormality of the genitourinary system

Trait	나타나는 빈도
Abnormal absence of menstruation	자주 (30–79%)
Difficulty getting a full erection	자주 (30–79%)
Hydronephrosis	가끔 (5–29%)
Loss of bladder control	드물게 (1–4%)
Cancer starting in small tubes in kidneys	기록되지 않음

Abnormality of the ear

Trait	나타나는 빈도
Recurrent middle ear infection	자주 (30–79%)
Low-set ears	가끔 (5–29%)
Ear pain	드물게 (1–4%)
Ringing in ears	드물게 (1–4%)

Growth abnormality

Trait	나타나는 빈도
Growth delay	매우 자주 (80–99%)
Weight loss	자주 (30–79%)
Obesity	가끔 (5–29%)

Abnormal cellular phenotype

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

Abnormal tissue mass

Trait	나타나는 빈도
Cancer of skin pigment cells	매우 자주 (80–99%)
Malignant mesothelioma	가끔 (5–29%)

Constitutional symptom

Trait	나타나는 빈도
Chest pain	자주 (30–79%)
Constitutional symptom	자주 (30–79%)

Abnormality of blood and blood-forming tissues

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

Abnormality of the breast

Trait	나타나는 빈도
Breast tumor	가끔 (5–29%)

Abnormality of the thoracic cavity

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

Laboratory abnormality

Trait	나타나는 빈도
Fluid around lungs	매우 자주 (80–99%)

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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to BAP1 and how often each is seen. Find out more at hpo.jax.org.

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