Požymiai

Su BAP1 susiję požymiai

BRCA1 associated deubiquitinase 1

Žmogaus fenotipo ontologija sieja 148 požymių su BAP1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

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

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Bitemporal hemianopia	Dažnai (30–79%)
Abnormal kinetic perimetry test	Kartais (5–29%)
Astigmatism	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Deeply set eye	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Exudative vitreoretinopathy	Kartais (5–29%)
Eye muscle paralysis	Kartais (5–29%)
Noninflammatory retina disease	Kartais (5–29%)
Oculomotor nerve palsy	Kartais (5–29%)
Papilledema	Kartais (5–29%)
Severe near sightedness	Kartais (5–29%)
Slow decrease in sharpness of vision	Kartais (5–29%)
Uveal melanoma	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 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 %)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Long philtrum	Dažnai (30–79%)
Abnormality of the sense of smell	Kartais (5–29%)
Bell's palsy	Kartais (5–29%)
Broad head shape	Kartais (5–29%)
Coarse facial features	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Frontal bossing	Kartais (5–29%)
High palate	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Short neck	Kartais (5–29%)
Tented mouth	Kartais (5–29%)
Triangular mouth	Kartais (5–29%)
Widely spaced teeth	Kartais (5–29%)
Neoplasm of the tongue	Retai (1–4 %)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Mole	Labai dažnai (80–99%)
Abnormality of the hair	Dažnai (30–79%)
Dry skin	Dažnai (30–79%)
Freckling	Dažnai (30–79%)
Cutaneous melanoma	Kartais (5–29%)
Excessive hair growth	Kartais (5–29%)
Hair loss	Kartais (5–29%)
Neurofibroma	Kartais (5–29%)
Spinal dimple	Kartais (5–29%)
Skin cancer	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormal pleura morphology	Dažnai (30–79%)
Breathing difficulties	Dažnai (30–79%)
Breathing difficulty	Dažnai (30–79%)
Cough	Dažnai (30–79%)
Abnormality of lung structure	Kartais (5–29%)
Functional respiratory abnormality	Kartais (5–29%)
Lung adenocarcinoma	Kartais (5–29%)
Abnormality on pulmonary function testing	Retai (1–4 %)
Progressive pulmonary function impairment	Retai (1–4 %)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Attachment of thumb close to wrist	Kartais (5–29%)
Club feet	Kartais (5–29%)
Decreased arm strength	Kartais (5–29%)
Finger syndactyly	Kartais (5–29%)
Lower limb muscle weakness	Kartais (5–29%)
Rocker bottom foot	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormality of the lymphatic system	Dažnai (30–79%)
Abnormal cardiovascular system physiology	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Obstruction of the superior vena cava	Kartais (5–29%)
Swollen lymph nodes	Kartais (5–29%)
Fainting spell	Retai (1–4 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Dažnai (30–79%)
Nausea and vomiting	Dažnai (30–79%)
Cancer of the pancreas	Kartais (5–29%)
Enlarged liver	Kartais (5–29%)
Poor swallowing	Kartais (5–29%)
Stomach tumor	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Abnormality of the chest	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Abnormal formation of the hip	Kartais (5–29%)
Functional motor deficit	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Back pain	Retai (1–4 %)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal absence of menstruation	Dažnai (30–79%)
Difficulty getting a full erection	Dažnai (30–79%)
Hydronephrosis	Kartais (5–29%)
Loss of bladder control	Retai (1–4 %)
Cancer starting in small tubes in kidneys	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Recurrent middle ear infection	Dažnai (30–79%)
Low-set ears	Kartais (5–29%)
Ear pain	Retai (1–4 %)
Ringing in ears	Retai (1–4 %)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Growth delay	Labai dažnai (80–99%)
Weight loss	Dažnai (30–79%)
Obesity	Kartais (5–29%)

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%)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Cancer of skin pigment cells	Labai dažnai (80–99%)
Malignant mesothelioma	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Chest pain	Dažnai (30–79%)
Constitutional symptom	Dažnai (30–79%)

Abnormality of blood and blood-forming tissues

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

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Breast tumor	Kartais (5–29%)

Abnormality of the thoracic cavity

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

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Fluid around lungs	Labai dažnai (80–99%)

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 BAP1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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