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	Ne sıklıkla görüldüğü
Delayed speech and language development	Her zaman
Global developmental delay	Her zaman
Intracranial meningioma	Çok sık (%80–99)
Abnormal brain FDG positron emission tomography	Sık (%30–79)
Attention deficit	Sık (%30–79)
Epilepsy	Sık (%30–79)
Focal T2 hypointense thalamic lesion	Sık (%30–79)
Headache	Sık (%30–79)
Motor delay	Sık (%30–79)
Seizure affecting one half of brain	Sık (%30–79)
Abnormal central motor function	Bazen (%5–29)
Abnormal central sensory function	Bazen (%5–29)
Abnormal gait	Bazen (%5–29)
Abnormality of extrapyramidal motor function	Bazen (%5–29)
Abnormality of the cerebellum	Bazen (%5–29)
Ataxia	Bazen (%5–29)
Autism spectrum disorder	Bazen (%5–29)
Cognitive impairment	Bazen (%5–29)
Cranial nerve paralysis	Bazen (%5–29)
Fourth cranial nerve palsy	Bazen (%5–29)
Memory impairment	Bazen (%5–29)
Noncancerous growth of membranes covering brain	Bazen (%5–29)
Rise in pressure inside skull	Bazen (%5–29)
Spinal meningioma	Bazen (%5–29)
Too much cerebrospinal fluid in the brain	Bazen (%5–29)
Trigeminal neuralgia	Bazen (%5–29)
Weakness of one side of body	Bazen (%5–29)
Abnormal speech pattern	Seyrek (%1–4)
Brain stem compression	Seyrek (%1–4)
Can't control feelings	Seyrek (%1–4)
Excessive daytime sleepiness	Seyrek (%1–4)
Spasms on one side of the face	Seyrek (%1–4)
Transient global amnesia	Seyrek (%1–4)
Intellectual disability	Kaydedilmedi

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Bitemporal hemianopia	Sık (%30–79)
Abnormal kinetic perimetry test	Bazen (%5–29)
Astigmatism	Bazen (%5–29)
Cross-eyed	Bazen (%5–29)
Deeply set eye	Bazen (%5–29)
Drooping upper eyelid	Bazen (%5–29)
Exudative vitreoretinopathy	Bazen (%5–29)
Eye muscle paralysis	Bazen (%5–29)
Noninflammatory retina disease	Bazen (%5–29)
Oculomotor nerve palsy	Bazen (%5–29)
Papilledema	Bazen (%5–29)
Severe near sightedness	Bazen (%5–29)
Slow decrease in sharpness of vision	Bazen (%5–29)
Uveal melanoma	Bazen (%5–29)
Visual acuity test abnormality	Bazen (%5–29)
Weak extraocular muscles	Bazen (%5–29)
Blindness	Seyrek (%1–4)
Bulging eye	Seyrek (%1–4)

Abnormality of the endocrine system

Trait	Ne sıklıkla görüldüğü
Decreased circulating ACTH concentration	Sık (%30–79)
Decreased circulating follicle stimulating hormone concentration	Sık (%30–79)
Decreased circulating luteinizing hormone level	Sık (%30–79)
Decreased serum estradiol	Sık (%30–79)
Decreased serum testosterone level	Sık (%30–79)
Hypogonadotropic hypogonadism	Sık (%30–79)
Increased circulating prolactin concentration	Sık (%30–79)
Low blood cortisol level	Sık (%30–79)
Low thyroid gland function due to abnormal pituitary gland	Sık (%30–79)
Secondary growth hormone deficiency	Sık (%30–79)
Abnormal hypothalamus physiology	Bazen (%5–29)
Enlarged pituitary gland	Bazen (%5–29)
Hypothalamic hypothyroidism	Bazen (%5–29)
Neoplasm of the anterior pituitary	Bazen (%5–29)
Reduced circulating prolactin concentration	Bazen (%5–29)
Neoplasm of the posterior pituitary	Seyrek (%1–4)

Abnormality of head or neck

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

Abnormality of the integument

Trait	Ne sıklıkla görüldüğü
Mole	Çok sık (%80–99)
Abnormality of the hair	Sık (%30–79)
Dry skin	Sık (%30–79)
Freckling	Sık (%30–79)
Cutaneous melanoma	Bazen (%5–29)
Excessive hair growth	Bazen (%5–29)
Hair loss	Bazen (%5–29)
Neurofibroma	Bazen (%5–29)
Spinal dimple	Bazen (%5–29)
Skin cancer	Seyrek (%1–4)

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Abnormal pleura morphology	Sık (%30–79)
Breathing difficulties	Sık (%30–79)
Breathing difficulty	Sık (%30–79)
Cough	Sık (%30–79)
Abnormality of lung structure	Bazen (%5–29)
Functional respiratory abnormality	Bazen (%5–29)
Lung adenocarcinoma	Bazen (%5–29)
Abnormality on pulmonary function testing	Seyrek (%1–4)
Progressive pulmonary function impairment	Seyrek (%1–4)

Abnormality of limbs

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

Abnormality of the cardiovascular system

Trait	Ne sıklıkla görüldüğü
Abnormality of the lymphatic system	Sık (%30–79)
Abnormal cardiovascular system physiology	Bazen (%5–29)
Hole in heart wall separating two lower heart chambers	Bazen (%5–29)
Obstruction of the superior vena cava	Bazen (%5–29)
Swollen lymph nodes	Bazen (%5–29)
Fainting spell	Seyrek (%1–4)

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Feeding difficulties	Sık (%30–79)
Nausea and vomiting	Sık (%30–79)
Cancer of the pancreas	Bazen (%5–29)
Enlarged liver	Bazen (%5–29)
Poor swallowing	Bazen (%5–29)
Stomach tumor	Bazen (%5–29)

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Abnormality of the chest	Sık (%30–79)
Low muscle tone	Sık (%30–79)
Abnormal formation of the hip	Bazen (%5–29)
Functional motor deficit	Bazen (%5–29)
Scoliosis	Bazen (%5–29)
Back pain	Seyrek (%1–4)

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Abnormal absence of menstruation	Sık (%30–79)
Difficulty getting a full erection	Sık (%30–79)
Hydronephrosis	Bazen (%5–29)
Loss of bladder control	Seyrek (%1–4)
Cancer starting in small tubes in kidneys	Kaydedilmedi

Abnormality of the ear

Trait	Ne sıklıkla görüldüğü
Recurrent middle ear infection	Sık (%30–79)
Low-set ears	Bazen (%5–29)
Ear pain	Seyrek (%1–4)
Ringing in ears	Seyrek (%1–4)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Growth delay	Çok sık (%80–99)
Weight loss	Sık (%30–79)
Obesity	Bazen (%5–29)

Abnormal cellular phenotype

Trait	Ne sıklıkla görüldüğü
Chromosomal breakage induced by ionizing radiation	Çok sık (%80–99)
Increased sensitivity to ionizing radiation	Çok sık (%80–99)

Abnormal tissue mass

Trait	Ne sıklıkla görüldüğü
Cancer of skin pigment cells	Çok sık (%80–99)
Malignant mesothelioma	Bazen (%5–29)

Constitutional symptom

Trait	Ne sıklıkla görüldüğü
Chest pain	Sık (%30–79)
Constitutional symptom	Sık (%30–79)

Abnormality of blood and blood-forming tissues

Trait	Ne sıklıkla görüldüğü
Bleeding in brain	Seyrek (%1–4)

Abnormality of the breast

Trait	Ne sıklıkla görüldüğü
Breast tumor	Bazen (%5–29)

Abnormality of the thoracic cavity

Trait	Ne sıklıkla görüldüğü
Abnormal mediastinum morphology	Seyrek (%1–4)

Laboratory abnormality

Trait	Ne sıklıkla görüldüğü
Fluid around lungs	Çok sık (%80–99)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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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