Trăsături

Trăsături asociate cu BAP1

BRCA1 associated deubiquitinase 1

Human Phenotype Ontology asociază 148 trăsături cu BAP1, 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
Delayed speech and language development	Întotdeauna
Global developmental delay	Întotdeauna
Intracranial meningioma	Foarte des (80–99%)
Abnormal brain FDG positron emission tomography	Des (30–79%)
Attention deficit	Des (30–79%)
Epilepsy	Des (30–79%)
Focal T2 hypointense thalamic lesion	Des (30–79%)
Headache	Des (30–79%)
Motor delay	Des (30–79%)
Seizure affecting one half of 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 extrapyramidal motor function	Uneori (5–29%)
Abnormality of the cerebellum	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Cognitive impairment	Uneori (5–29%)
Cranial nerve paralysis	Uneori (5–29%)
Fourth cranial nerve palsy	Uneori (5–29%)
Memory impairment	Uneori (5–29%)
Noncancerous growth of membranes covering brain	Uneori (5–29%)
Rise in pressure inside skull	Uneori (5–29%)
Spinal meningioma	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	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%)
Spasms on one side of the face	Rar (1–4%)
Transient global amnesia	Rar (1–4%)
Intellectual disability	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bitemporal hemianopia	Des (30–79%)
Abnormal kinetic perimetry test	Uneori (5–29%)
Astigmatism	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Deeply set eye	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Exudative vitreoretinopathy	Uneori (5–29%)
Eye muscle paralysis	Uneori (5–29%)
Noninflammatory retina disease	Uneori (5–29%)
Oculomotor nerve palsy	Uneori (5–29%)
Papilledema	Uneori (5–29%)
Severe near sightedness	Uneori (5–29%)
Slow decrease in sharpness of vision	Uneori (5–29%)
Uveal melanoma	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 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%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Long philtrum	Des (30–79%)
Abnormality of the sense of smell	Uneori (5–29%)
Bell's palsy	Uneori (5–29%)
Broad head shape	Uneori (5–29%)
Coarse facial features	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
High palate	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Short neck	Uneori (5–29%)
Tented mouth	Uneori (5–29%)
Triangular mouth	Uneori (5–29%)
Widely spaced teeth	Uneori (5–29%)
Neoplasm of the tongue	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Mole	Foarte des (80–99%)
Abnormality of the hair	Des (30–79%)
Dry skin	Des (30–79%)
Freckling	Des (30–79%)
Cutaneous melanoma	Uneori (5–29%)
Excessive hair growth	Uneori (5–29%)
Hair loss	Uneori (5–29%)
Neurofibroma	Uneori (5–29%)
Spinal dimple	Uneori (5–29%)
Skin cancer	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormal pleura morphology	Des (30–79%)
Breathing difficulties	Des (30–79%)
Breathing difficulty	Des (30–79%)
Cough	Des (30–79%)
Abnormality of lung structure	Uneori (5–29%)
Functional respiratory abnormality	Uneori (5–29%)
Lung adenocarcinoma	Uneori (5–29%)
Abnormality on pulmonary function testing	Rar (1–4%)
Progressive pulmonary function impairment	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Attachment of thumb close to wrist	Uneori (5–29%)
Club feet	Uneori (5–29%)
Decreased arm strength	Uneori (5–29%)
Finger syndactyly	Uneori (5–29%)
Lower limb muscle weakness	Uneori (5–29%)
Rocker bottom foot	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormality of the lymphatic system	Des (30–79%)
Abnormal cardiovascular system physiology	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Obstruction of the superior vena cava	Uneori (5–29%)
Swollen lymph nodes	Uneori (5–29%)
Fainting spell	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Nausea and vomiting	Des (30–79%)
Cancer of the pancreas	Uneori (5–29%)
Enlarged liver	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)
Stomach tumor	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormality of the chest	Des (30–79%)
Low muscle tone	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Functional motor deficit	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Back pain	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal absence of menstruation	Des (30–79%)
Difficulty getting a full erection	Des (30–79%)
Hydronephrosis	Uneori (5–29%)
Loss of bladder control	Rar (1–4%)
Cancer starting in small tubes in kidneys	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Recurrent middle ear infection	Des (30–79%)
Low-set ears	Uneori (5–29%)
Ear pain	Rar (1–4%)
Ringing in ears	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay	Foarte des (80–99%)
Weight loss	Des (30–79%)
Obesity	Uneori (5–29%)

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%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Cancer of skin pigment cells	Foarte des (80–99%)
Malignant mesothelioma	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Chest pain	Des (30–79%)
Constitutional symptom	Des (30–79%)

Abnormality of blood and blood-forming tissues

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

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Breast tumor	Uneori (5–29%)

Abnormality of the thoracic cavity

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

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Fluid around lungs	Foarte des (80–99%)

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 BAP1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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