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

Abnormality of the eye

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

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Decreased circulating ACTH concentration	Ofte (30–79 %)
Decreased circulating follicle stimulating hormone concentration	Ofte (30–79 %)
Decreased circulating luteinizing hormone level	Ofte (30–79 %)
Decreased serum estradiol	Ofte (30–79 %)
Decreased serum testosterone level	Ofte (30–79 %)
Hypogonadotropic hypogonadism	Ofte (30–79 %)
Increased circulating prolactin concentration	Ofte (30–79 %)
Low blood cortisol level	Ofte (30–79 %)
Low thyroid gland function due to abnormal pituitary gland	Ofte (30–79 %)
Secondary growth hormone deficiency	Ofte (30–79 %)
Abnormal hypothalamus physiology	Noen ganger (5–29 %)
Enlarged pituitary gland	Noen ganger (5–29 %)
Hypothalamic hypothyroidism	Noen ganger (5–29 %)
Neoplasm of the anterior pituitary	Noen ganger (5–29 %)
Reduced circulating prolactin concentration	Noen ganger (5–29 %)
Neoplasm of the posterior pituitary	Sjelden (1–4%)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Long philtrum	Ofte (30–79 %)
Abnormality of the sense of smell	Noen ganger (5–29 %)
Bell's palsy	Noen ganger (5–29 %)
Broad head shape	Noen ganger (5–29 %)
Coarse facial features	Noen ganger (5–29 %)
Downward slanting of the opening between the eyelids	Noen ganger (5–29 %)
Frontal bossing	Noen ganger (5–29 %)
High palate	Noen ganger (5–29 %)
Nasal tip, upturned	Noen ganger (5–29 %)
Short neck	Noen ganger (5–29 %)
Tented mouth	Noen ganger (5–29 %)
Triangular mouth	Noen ganger (5–29 %)
Widely spaced teeth	Noen ganger (5–29 %)
Neoplasm of the tongue	Sjelden (1–4%)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Mole	Svært ofte (80–99 %)
Abnormality of the hair	Ofte (30–79 %)
Dry skin	Ofte (30–79 %)
Freckling	Ofte (30–79 %)
Cutaneous melanoma	Noen ganger (5–29 %)
Excessive hair growth	Noen ganger (5–29 %)
Hair loss	Noen ganger (5–29 %)
Neurofibroma	Noen ganger (5–29 %)
Spinal dimple	Noen ganger (5–29 %)
Skin cancer	Sjelden (1–4%)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Abnormal pleura morphology	Ofte (30–79 %)
Breathing difficulties	Ofte (30–79 %)
Breathing difficulty	Ofte (30–79 %)
Cough	Ofte (30–79 %)
Abnormality of lung structure	Noen ganger (5–29 %)
Functional respiratory abnormality	Noen ganger (5–29 %)
Lung adenocarcinoma	Noen ganger (5–29 %)
Abnormality on pulmonary function testing	Sjelden (1–4%)
Progressive pulmonary function impairment	Sjelden (1–4%)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Attachment of thumb close to wrist	Noen ganger (5–29 %)
Club feet	Noen ganger (5–29 %)
Decreased arm strength	Noen ganger (5–29 %)
Finger syndactyly	Noen ganger (5–29 %)
Lower limb muscle weakness	Noen ganger (5–29 %)
Rocker bottom foot	Noen ganger (5–29 %)
Short fingers or toes	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Abnormality of the lymphatic system	Ofte (30–79 %)
Abnormal cardiovascular system physiology	Noen ganger (5–29 %)
Hole in heart wall separating two lower heart chambers	Noen ganger (5–29 %)
Obstruction of the superior vena cava	Noen ganger (5–29 %)
Swollen lymph nodes	Noen ganger (5–29 %)
Fainting spell	Sjelden (1–4%)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Feeding difficulties	Ofte (30–79 %)
Nausea and vomiting	Ofte (30–79 %)
Cancer of the pancreas	Noen ganger (5–29 %)
Enlarged liver	Noen ganger (5–29 %)
Poor swallowing	Noen ganger (5–29 %)
Stomach tumor	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Abnormality of the chest	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Abnormal formation of the hip	Noen ganger (5–29 %)
Functional motor deficit	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)
Back pain	Sjelden (1–4%)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Abnormal absence of menstruation	Ofte (30–79 %)
Difficulty getting a full erection	Ofte (30–79 %)
Hydronephrosis	Noen ganger (5–29 %)
Loss of bladder control	Sjelden (1–4%)
Cancer starting in small tubes in kidneys	Ikke registrert

Abnormality of the ear

Trait	Hvor ofte den forekommer
Recurrent middle ear infection	Ofte (30–79 %)
Low-set ears	Noen ganger (5–29 %)
Ear pain	Sjelden (1–4%)
Ringing in ears	Sjelden (1–4%)

Growth abnormality

Trait	Hvor ofte den forekommer
Growth delay	Svært ofte (80–99 %)
Weight loss	Ofte (30–79 %)
Obesity	Noen ganger (5–29 %)

Abnormal cellular phenotype

Trait	Hvor ofte den forekommer
Chromosomal breakage induced by ionizing radiation	Svært ofte (80–99 %)
Increased sensitivity to ionizing radiation	Svært ofte (80–99 %)

Abnormal tissue mass

Trait	Hvor ofte den forekommer
Cancer of skin pigment cells	Svært ofte (80–99 %)
Malignant mesothelioma	Noen ganger (5–29 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Chest pain	Ofte (30–79 %)
Constitutional symptom	Ofte (30–79 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Bleeding in brain	Sjelden (1–4%)

Abnormality of the breast

Trait	Hvor ofte den forekommer
Breast tumor	Noen ganger (5–29 %)

Abnormality of the thoracic cavity

Trait	Hvor ofte den forekommer
Abnormal mediastinum morphology	Sjelden (1–4%)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Fluid around lungs	Svært ofte (80–99 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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