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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

TraitKui sageli seda täheldatakse
Delayed speech and language developmentAlati
Global developmental delayAlati
Intracranial meningiomaVäga sageli (80–99%)
Abnormal brain FDG positron emission tomographySageli (30–79%)
Attention deficitSageli (30–79%)
EpilepsySageli (30–79%)
Focal T2 hypointense thalamic lesionSageli (30–79%)
HeadacheSageli (30–79%)
Motor delaySageli (30–79%)
Seizure affecting one half of brainSageli (30–79%)
Abnormal central motor functionMõnikord (5–29%)
Abnormal central sensory functionMõnikord (5–29%)
Abnormal gaitMõnikord (5–29%)
Abnormality of extrapyramidal motor functionMõnikord (5–29%)
Abnormality of the cerebellumMõnikord (5–29%)
AtaxiaMõnikord (5–29%)
Autism spectrum disorderMõnikord (5–29%)
Cognitive impairmentMõnikord (5–29%)
Cranial nerve paralysisMõnikord (5–29%)
Fourth cranial nerve palsyMõnikord (5–29%)
Memory impairmentMõnikord (5–29%)
Noncancerous growth of membranes covering brainMõnikord (5–29%)
Rise in pressure inside skullMõnikord (5–29%)
Spinal meningiomaMõnikord (5–29%)
Too much cerebrospinal fluid in the brainMõnikord (5–29%)
Trigeminal neuralgiaMõnikord (5–29%)
Weakness of one side of bodyMõnikord (5–29%)
Abnormal speech patternHarva (1–4%)
Brain stem compressionHarva (1–4%)
Can't control feelingsHarva (1–4%)
Excessive daytime sleepinessHarva (1–4%)
Spasms on one side of the faceHarva (1–4%)
Transient global amnesiaHarva (1–4%)
Intellectual disabilityPole registreeritud

Abnormality of the eye

TraitKui sageli seda täheldatakse
Bitemporal hemianopiaSageli (30–79%)
Abnormal kinetic perimetry testMõnikord (5–29%)
AstigmatismMõnikord (5–29%)
Cross-eyedMõnikord (5–29%)
Deeply set eyeMõnikord (5–29%)
Drooping upper eyelidMõnikord (5–29%)
Exudative vitreoretinopathyMõnikord (5–29%)
Eye muscle paralysisMõnikord (5–29%)
Noninflammatory retina diseaseMõnikord (5–29%)
Oculomotor nerve palsyMõnikord (5–29%)
PapilledemaMõnikord (5–29%)
Severe near sightednessMõnikord (5–29%)
Slow decrease in sharpness of visionMõnikord (5–29%)
Uveal melanomaMõnikord (5–29%)
Visual acuity test abnormalityMõnikord (5–29%)
Weak extraocular musclesMõnikord (5–29%)
BlindnessHarva (1–4%)
Bulging eyeHarva (1–4%)

Abnormality of the endocrine system

TraitKui sageli seda täheldatakse
Decreased circulating ACTH concentrationSageli (30–79%)
Decreased circulating follicle stimulating hormone concentrationSageli (30–79%)
Decreased circulating luteinizing hormone levelSageli (30–79%)
Decreased serum estradiolSageli (30–79%)
Decreased serum testosterone levelSageli (30–79%)
Hypogonadotropic hypogonadismSageli (30–79%)
Increased circulating prolactin concentrationSageli (30–79%)
Low blood cortisol levelSageli (30–79%)
Low thyroid gland function due to abnormal pituitary glandSageli (30–79%)
Secondary growth hormone deficiencySageli (30–79%)
Abnormal hypothalamus physiologyMõnikord (5–29%)
Enlarged pituitary glandMõnikord (5–29%)
Hypothalamic hypothyroidismMõnikord (5–29%)
Neoplasm of the anterior pituitaryMõnikord (5–29%)
Reduced circulating prolactin concentrationMõnikord (5–29%)
Neoplasm of the posterior pituitaryHarva (1–4%)

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Long philtrumSageli (30–79%)
Abnormality of the sense of smellMõnikord (5–29%)
Bell's palsyMõnikord (5–29%)
Broad head shapeMõnikord (5–29%)
Coarse facial featuresMõnikord (5–29%)
Downward slanting of the opening between the eyelidsMõnikord (5–29%)
Frontal bossingMõnikord (5–29%)
High palateMõnikord (5–29%)
Nasal tip, upturnedMõnikord (5–29%)
Short neckMõnikord (5–29%)
Tented mouthMõnikord (5–29%)
Triangular mouthMõnikord (5–29%)
Widely spaced teethMõnikord (5–29%)
Neoplasm of the tongueHarva (1–4%)

Abnormality of the integument

TraitKui sageli seda täheldatakse
MoleVäga sageli (80–99%)
Abnormality of the hairSageli (30–79%)
Dry skinSageli (30–79%)
FrecklingSageli (30–79%)
Cutaneous melanomaMõnikord (5–29%)
Excessive hair growthMõnikord (5–29%)
Hair lossMõnikord (5–29%)
NeurofibromaMõnikord (5–29%)
Spinal dimpleMõnikord (5–29%)
Skin cancerHarva (1–4%)

Abnormality of the respiratory system

TraitKui sageli seda täheldatakse
Abnormal pleura morphologySageli (30–79%)
Breathing difficultiesSageli (30–79%)
Breathing difficultySageli (30–79%)
CoughSageli (30–79%)
Abnormality of lung structureMõnikord (5–29%)
Functional respiratory abnormalityMõnikord (5–29%)
Lung adenocarcinomaMõnikord (5–29%)
Abnormality on pulmonary function testingHarva (1–4%)
Progressive pulmonary function impairmentHarva (1–4%)

Abnormality of limbs

TraitKui sageli seda täheldatakse
Attachment of thumb close to wristMõnikord (5–29%)
Club feetMõnikord (5–29%)
Decreased arm strengthMõnikord (5–29%)
Finger syndactylyMõnikord (5–29%)
Lower limb muscle weaknessMõnikord (5–29%)
Rocker bottom footMõnikord (5–29%)
Short fingers or toesMõnikord (5–29%)

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Abnormality of the lymphatic systemSageli (30–79%)
Abnormal cardiovascular system physiologyMõnikord (5–29%)
Hole in heart wall separating two lower heart chambersMõnikord (5–29%)
Obstruction of the superior vena cavaMõnikord (5–29%)
Swollen lymph nodesMõnikord (5–29%)
Fainting spellHarva (1–4%)

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Feeding difficultiesSageli (30–79%)
Nausea and vomitingSageli (30–79%)
Cancer of the pancreasMõnikord (5–29%)
Enlarged liverMõnikord (5–29%)
Poor swallowingMõnikord (5–29%)
Stomach tumorMõnikord (5–29%)

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Abnormality of the chestSageli (30–79%)
Low muscle toneSageli (30–79%)
Abnormal formation of the hipMõnikord (5–29%)
Functional motor deficitMõnikord (5–29%)
ScoliosisMõnikord (5–29%)
Back painHarva (1–4%)

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
Abnormal absence of menstruationSageli (30–79%)
Difficulty getting a full erectionSageli (30–79%)
HydronephrosisMõnikord (5–29%)
Loss of bladder controlHarva (1–4%)
Cancer starting in small tubes in kidneysPole registreeritud

Abnormality of the ear

TraitKui sageli seda täheldatakse
Recurrent middle ear infectionSageli (30–79%)
Low-set earsMõnikord (5–29%)
Ear painHarva (1–4%)
Ringing in earsHarva (1–4%)

Growth abnormality

TraitKui sageli seda täheldatakse
Growth delayVäga sageli (80–99%)
Weight lossSageli (30–79%)
ObesityMõnikord (5–29%)

Abnormal cellular phenotype

TraitKui sageli seda täheldatakse
Chromosomal breakage induced by ionizing radiationVäga sageli (80–99%)
Increased sensitivity to ionizing radiationVäga sageli (80–99%)

Abnormal tissue mass

TraitKui sageli seda täheldatakse
Cancer of skin pigment cellsVäga sageli (80–99%)
Malignant mesotheliomaMõnikord (5–29%)

Constitutional symptom

TraitKui sageli seda täheldatakse
Chest painSageli (30–79%)
Constitutional symptomSageli (30–79%)

Abnormality of blood and blood-forming tissues

TraitKui sageli seda täheldatakse
Bleeding in brainHarva (1–4%)

Abnormality of the breast

TraitKui sageli seda täheldatakse
Breast tumorMõnikord (5–29%)

Abnormality of the thoracic cavity

TraitKui sageli seda täheldatakse
Abnormal mediastinum morphologyHarva (1–4%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Fluid around lungsVäga sageli (80–99%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

  • 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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