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Kenmerken
Kenmerken gekoppeld aan BAP1
BRCA1 associated deubiquitinase 1
De Human Phenotype Ontology koppelt 148 kenmerken aan BAP1, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.
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Abnormality of the nervous system
Abnormality of the eye
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Bitemporal hemianopia | Vaak (30–79%) |
| Abnormal kinetic perimetry test | Soms (5–29%) |
| Astigmatism | Soms (5–29%) |
| Cross-eyed | Soms (5–29%) |
| Deeply set eye | Soms (5–29%) |
| Drooping upper eyelid | Soms (5–29%) |
| Exudative vitreoretinopathy | Soms (5–29%) |
| Eye muscle paralysis | Soms (5–29%) |
| Noninflammatory retina disease | Soms (5–29%) |
| Oculomotor nerve palsy | Soms (5–29%) |
| Papilledema | Soms (5–29%) |
| Severe near sightedness | Soms (5–29%) |
| Slow decrease in sharpness of vision | Soms (5–29%) |
| Uveal melanoma | Soms (5–29%) |
| Visual acuity test abnormality | Soms (5–29%) |
| Weak extraocular muscles | Soms (5–29%) |
| Blindness | Zelden (1–4%) |
| Bulging eye | Zelden (1–4%) |
Abnormality of the endocrine system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Decreased circulating ACTH concentration | Vaak (30–79%) |
| Decreased circulating follicle stimulating hormone concentration | Vaak (30–79%) |
| Decreased circulating luteinizing hormone level | Vaak (30–79%) |
| Decreased serum estradiol | Vaak (30–79%) |
| Decreased serum testosterone level | Vaak (30–79%) |
| Hypogonadotropic hypogonadism | Vaak (30–79%) |
| Increased circulating prolactin concentration | Vaak (30–79%) |
| Low blood cortisol level | Vaak (30–79%) |
| Low thyroid gland function due to abnormal pituitary gland | Vaak (30–79%) |
| Secondary growth hormone deficiency | Vaak (30–79%) |
| Abnormal hypothalamus physiology | Soms (5–29%) |
| Enlarged pituitary gland | Soms (5–29%) |
| Hypothalamic hypothyroidism | Soms (5–29%) |
| Neoplasm of the anterior pituitary | Soms (5–29%) |
| Reduced circulating prolactin concentration | Soms (5–29%) |
| Neoplasm of the posterior pituitary | Zelden (1–4%) |
Abnormality of head or neck
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Long philtrum | Vaak (30–79%) |
| Abnormality of the sense of smell | Soms (5–29%) |
| Bell's palsy | Soms (5–29%) |
| Broad head shape | Soms (5–29%) |
| Coarse facial features | Soms (5–29%) |
| Downward slanting of the opening between the eyelids | Soms (5–29%) |
| Frontal bossing | Soms (5–29%) |
| High palate | Soms (5–29%) |
| Nasal tip, upturned | Soms (5–29%) |
| Short neck | Soms (5–29%) |
| Tented mouth | Soms (5–29%) |
| Triangular mouth | Soms (5–29%) |
| Widely spaced teeth | Soms (5–29%) |
| Neoplasm of the tongue | Zelden (1–4%) |
Abnormality of the integument
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Mole | Heel vaak (80–99%) |
| Abnormality of the hair | Vaak (30–79%) |
| Dry skin | Vaak (30–79%) |
| Freckling | Vaak (30–79%) |
| Cutaneous melanoma | Soms (5–29%) |
| Excessive hair growth | Soms (5–29%) |
| Hair loss | Soms (5–29%) |
| Neurofibroma | Soms (5–29%) |
| Spinal dimple | Soms (5–29%) |
| Skin cancer | Zelden (1–4%) |
Abnormality of the respiratory system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormal pleura morphology | Vaak (30–79%) |
| Breathing difficulties | Vaak (30–79%) |
| Breathing difficulty | Vaak (30–79%) |
| Cough | Vaak (30–79%) |
| Abnormality of lung structure | Soms (5–29%) |
| Functional respiratory abnormality | Soms (5–29%) |
| Lung adenocarcinoma | Soms (5–29%) |
| Abnormality on pulmonary function testing | Zelden (1–4%) |
| Progressive pulmonary function impairment | Zelden (1–4%) |
Abnormality of limbs
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Attachment of thumb close to wrist | Soms (5–29%) |
| Club feet | Soms (5–29%) |
| Decreased arm strength | Soms (5–29%) |
| Finger syndactyly | Soms (5–29%) |
| Lower limb muscle weakness | Soms (5–29%) |
| Rocker bottom foot | Soms (5–29%) |
| Short fingers or toes | Soms (5–29%) |
Abnormality of the cardiovascular system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormality of the lymphatic system | Vaak (30–79%) |
| Abnormal cardiovascular system physiology | Soms (5–29%) |
| Hole in heart wall separating two lower heart chambers | Soms (5–29%) |
| Obstruction of the superior vena cava | Soms (5–29%) |
| Swollen lymph nodes | Soms (5–29%) |
| Fainting spell | Zelden (1–4%) |
Abnormality of the digestive system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Feeding difficulties | Vaak (30–79%) |
| Nausea and vomiting | Vaak (30–79%) |
| Cancer of the pancreas | Soms (5–29%) |
| Enlarged liver | Soms (5–29%) |
| Poor swallowing | Soms (5–29%) |
| Stomach tumor | Soms (5–29%) |
Abnormality of the musculoskeletal system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormality of the chest | Vaak (30–79%) |
| Low muscle tone | Vaak (30–79%) |
| Abnormal formation of the hip | Soms (5–29%) |
| Functional motor deficit | Soms (5–29%) |
| Scoliosis | Soms (5–29%) |
| Back pain | Zelden (1–4%) |
Abnormality of the genitourinary system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormal absence of menstruation | Vaak (30–79%) |
| Difficulty getting a full erection | Vaak (30–79%) |
| Hydronephrosis | Soms (5–29%) |
| Loss of bladder control | Zelden (1–4%) |
| Cancer starting in small tubes in kidneys | Niet vastgelegd |
Abnormality of the ear
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Recurrent middle ear infection | Vaak (30–79%) |
| Low-set ears | Soms (5–29%) |
| Ear pain | Zelden (1–4%) |
| Ringing in ears | Zelden (1–4%) |
Growth abnormality
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Growth delay | Heel vaak (80–99%) |
| Weight loss | Vaak (30–79%) |
| Obesity | Soms (5–29%) |
Abnormal cellular phenotype
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Chromosomal breakage induced by ionizing radiation | Heel vaak (80–99%) |
| Increased sensitivity to ionizing radiation | Heel vaak (80–99%) |
Abnormal tissue mass
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Cancer of skin pigment cells | Heel vaak (80–99%) |
| Malignant mesothelioma | Soms (5–29%) |
Constitutional symptom
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Chest pain | Vaak (30–79%) |
| Constitutional symptom | Vaak (30–79%) |
Abnormality of blood and blood-forming tissues
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Bleeding in brain | Zelden (1–4%) |
Abnormality of the breast
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Breast tumor | Soms (5–29%) |
Abnormality of the thoracic cavity
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormal mediastinum morphology | Zelden (1–4%) |
Laboratory abnormality
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Fluid around lungs | Heel vaak (80–99%) |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Waar dit vandaan komt
- De Human Phenotype Ontology, versie 2026-09-01: de aan BAP1 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.
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