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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.
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Abnormality of the nervous system
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Bitemporal hemianopia | Often (30–79%) |
| Abnormal kinetic perimetry test | Sometimes (5–29%) |
| Astigmatism | Sometimes (5–29%) |
| Cross-eyed | Sometimes (5–29%) |
| Deeply set eye | Sometimes (5–29%) |
| Drooping upper eyelid | Sometimes (5–29%) |
| Exudative vitreoretinopathy | Sometimes (5–29%) |
| Eye muscle paralysis | Sometimes (5–29%) |
| Noninflammatory retina disease | Sometimes (5–29%) |
| Oculomotor nerve palsy | Sometimes (5–29%) |
| Papilledema | Sometimes (5–29%) |
| Severe near sightedness | Sometimes (5–29%) |
| Slow decrease in sharpness of vision | Sometimes (5–29%) |
| Uveal melanoma | Sometimes (5–29%) |
| Visual acuity test abnormality | Sometimes (5–29%) |
| Weak extraocular muscles | Sometimes (5–29%) |
| Blindness | Rarely (1–4%) |
| Bulging eye | Rarely (1–4%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Decreased circulating ACTH concentration | Often (30–79%) |
| Decreased circulating follicle stimulating hormone concentration | Often (30–79%) |
| Decreased circulating luteinizing hormone level | Often (30–79%) |
| Decreased serum estradiol | Often (30–79%) |
| Decreased serum testosterone level | Often (30–79%) |
| Hypogonadotropic hypogonadism | Often (30–79%) |
| Increased circulating prolactin concentration | Often (30–79%) |
| Low blood cortisol level | Often (30–79%) |
| Low thyroid gland function due to abnormal pituitary gland | Often (30–79%) |
| Secondary growth hormone deficiency | Often (30–79%) |
| Abnormal hypothalamus physiology | Sometimes (5–29%) |
| Enlarged pituitary gland | Sometimes (5–29%) |
| Hypothalamic hypothyroidism | Sometimes (5–29%) |
| Neoplasm of the anterior pituitary | Sometimes (5–29%) |
| Reduced circulating prolactin concentration | Sometimes (5–29%) |
| Neoplasm of the posterior pituitary | Rarely (1–4%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Long philtrum | Often (30–79%) |
| Abnormality of the sense of smell | Sometimes (5–29%) |
| Bell's palsy | Sometimes (5–29%) |
| Broad head shape | Sometimes (5–29%) |
| Coarse facial features | Sometimes (5–29%) |
| Downward slanting of the opening between the eyelids | Sometimes (5–29%) |
| Frontal bossing | Sometimes (5–29%) |
| High palate | Sometimes (5–29%) |
| Nasal tip, upturned | Sometimes (5–29%) |
| Short neck | Sometimes (5–29%) |
| Tented mouth | Sometimes (5–29%) |
| Triangular mouth | Sometimes (5–29%) |
| Widely spaced teeth | Sometimes (5–29%) |
| Neoplasm of the tongue | Rarely (1–4%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Mole | Very often (80–99%) |
| Abnormality of the hair | Often (30–79%) |
| Dry skin | Often (30–79%) |
| Freckling | Often (30–79%) |
| Cutaneous melanoma | Sometimes (5–29%) |
| Excessive hair growth | Sometimes (5–29%) |
| Hair loss | Sometimes (5–29%) |
| Neurofibroma | Sometimes (5–29%) |
| Spinal dimple | Sometimes (5–29%) |
| Skin cancer | Rarely (1–4%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Abnormal pleura morphology | Often (30–79%) |
| Breathing difficulties | Often (30–79%) |
| Breathing difficulty | Often (30–79%) |
| Cough | Often (30–79%) |
| Abnormality of lung structure | Sometimes (5–29%) |
| Functional respiratory abnormality | Sometimes (5–29%) |
| Lung adenocarcinoma | Sometimes (5–29%) |
| Abnormality on pulmonary function testing | Rarely (1–4%) |
| Progressive pulmonary function impairment | Rarely (1–4%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Attachment of thumb close to wrist | Sometimes (5–29%) |
| Club feet | Sometimes (5–29%) |
| Decreased arm strength | Sometimes (5–29%) |
| Finger syndactyly | Sometimes (5–29%) |
| Lower limb muscle weakness | Sometimes (5–29%) |
| Rocker bottom foot | Sometimes (5–29%) |
| Short fingers or toes | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Abnormality of the lymphatic system | Often (30–79%) |
| Abnormal cardiovascular system physiology | Sometimes (5–29%) |
| Hole in heart wall separating two lower heart chambers | Sometimes (5–29%) |
| Obstruction of the superior vena cava | Sometimes (5–29%) |
| Swollen lymph nodes | Sometimes (5–29%) |
| Fainting spell | Rarely (1–4%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties | Often (30–79%) |
| Nausea and vomiting | Often (30–79%) |
| Cancer of the pancreas | Sometimes (5–29%) |
| Enlarged liver | Sometimes (5–29%) |
| Poor swallowing | Sometimes (5–29%) |
| Stomach tumor | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Abnormality of the chest | Often (30–79%) |
| Low muscle tone | Often (30–79%) |
| Abnormal formation of the hip | Sometimes (5–29%) |
| Functional motor deficit | Sometimes (5–29%) |
| Scoliosis | Sometimes (5–29%) |
| Back pain | Rarely (1–4%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Abnormal absence of menstruation | Often (30–79%) |
| Difficulty getting a full erection | Often (30–79%) |
| Hydronephrosis | Sometimes (5–29%) |
| Loss of bladder control | Rarely (1–4%) |
| Cancer starting in small tubes in kidneys | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Recurrent middle ear infection | Often (30–79%) |
| Low-set ears | Sometimes (5–29%) |
| Ear pain | Rarely (1–4%) |
| Ringing in ears | Rarely (1–4%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Growth delay | Very often (80–99%) |
| Weight loss | Often (30–79%) |
| Obesity | Sometimes (5–29%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Chromosomal breakage induced by ionizing radiation | Very often (80–99%) |
| Increased sensitivity to ionizing radiation | Very often (80–99%) |
Abnormal tissue mass
| Trait | How often it is seen |
|---|---|
| Cancer of skin pigment cells | Very often (80–99%) |
| Malignant mesothelioma | Sometimes (5–29%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Chest pain | Often (30–79%) |
| Constitutional symptom | Often (30–79%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Bleeding in brain | Rarely (1–4%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Breast tumor | Sometimes (5–29%) |
Abnormality of the thoracic cavity
| Trait | How often it is seen |
|---|---|
| Abnormal mediastinum morphology | Rarely (1–4%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Fluid around lungs | Very often (80–99%) |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Where this comes from
- 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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