Trăsături

Trăsături asociate cu BRCA2

BRCA2 DNA repair associated

Human Phenotype Ontology asociază 212 trăsături cu BRCA2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Glioblastoma multiforme	Foarte des (80–99%)
Anxiety	Des (30–79%)
Attention deficit	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Depression	Des (30–79%)
Epilepsy	Des (30–79%)
Global developmental delay	Des (30–79%)
Intellectual disability	Des (30–79%)
Irritability	Des (30–79%)
Migraine	Des (30–79%)
Rise in pressure inside skull	Des (30–79%)
Abnormal gait	Uneori (5–29%)
Abnormal pyramidal sign	Uneori (5–29%)
Abnormal shape of nervous system	Uneori (5–29%)
Abnormal speech pattern	Uneori (5–29%)
Astrocytoma	Uneori (5–29%)
Benign neoplasm of the central nervous system	Uneori (5–29%)
Cancer of early nerve cells	Uneori (5–29%)
Cranial nerve paralysis	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
Disturbed sensory perception	Uneori (5–29%)
Dysgraphia	Uneori (5–29%)
Hallucinations	Uneori (5–29%)
Increased reflexes	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
Medulloblastoma	Uneori (5–29%)
Memory impairment	Uneori (5–29%)
Paralysis or weakness of one side of body	Uneori (5–29%)
Pins and needles feeling	Uneori (5–29%)
Split spine	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Pancreatic adenocarcinoma	Întotdeauna
Abdominal mass	Foarte des (80–99%)
Abdominal pain	Foarte des (80–99%)
Anorexia	Foarte des (80–99%)
Biliary tract neoplasm	Foarte des (80–99%)
Constipation	Foarte des (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Foarte des (80–99%)
Jaundice	Foarte des (80–99%)
Malabsorption	Foarte des (80–99%)
Poor appetite	Foarte des (80–99%)
Primary peritoneal carcinoma	Foarte des (80–99%)
Duplication of renal pelvis	Des (30–79%)
Extrahepatic cholestasis	Des (30–79%)
Functional intestinal obstruction	Des (30–79%)
Intestinal pseudo-obstruction	Des (30–79%)
Nausea and vomiting	Des (30–79%)
Rectal tumor	Des (30–79%)
Abnormal connection between trachea and esophagus	Uneori (5–29%)
Abnormality of the liver	Uneori (5–29%)
Absent anus	Uneori (5–29%)
Cancer of the pancreas	Uneori (5–29%)
Colon cancer	Uneori (5–29%)
Colon tumor	Uneori (5–29%)
Duodenal stenosis	Uneori (5–29%)
Enlarged colon lacking nerve cells	Uneori (5–29%)
Hepatocellular carcinoma	Uneori (5–29%)
Intermittent diarrhea	Uneori (5–29%)
Liver cancer	Uneori (5–29%)
Meckel diverticulum	Uneori (5–29%)
Peritoneal abscess	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)
Stomach cancer	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal fallopian tube morphology	Foarte des (80–99%)
Nephroblastoma	Foarte des (80–99%)
Ovarian cancer	Foarte des (80–99%)
Abnormally shaped kidney	Des (30–79%)
Urinary tract abnormalities	Des (30–79%)
Abnormal kidney location	Uneori (5–29%)
Abnormal localisation of kidneys	Uneori (5–29%)
Abnormal preputium morphology	Uneori (5–29%)
Abnormal uterus morphology	Uneori (5–29%)
Abnormality of the testis	Uneori (5–29%)
Abnormality of the uterus	Uneori (5–29%)
Absent sperm in semen	Uneori (5–29%)
Absent testes	Uneori (5–29%)
Absent/small kidney	Uneori (5–29%)
Decreased fertility in males	Uneori (5–29%)
Frequent urinary tract infections	Uneori (5–29%)
Heart shaped uterus	Uneori (5–29%)
Horseshoe kidney	Uneori (5–29%)
Hydroureter	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Ovarian carcinoma	Uneori (5–29%)
Prostate cancer	Uneori (5–29%)
Renal failure	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Urinary tract neoplasm	Uneori (5–29%)
Varicocele	Uneori (5–29%)
Uterine cancer	Rar (1–4%)
Kidney cancer	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of the thumb	Foarte des (80–99%)
Abnormality of the upper limb	Foarte des (80–99%)
Aplasia/Hypoplasia of the radius	Foarte des (80–99%)
Abnormal feet structure	Uneori (5–29%)
Abnormal morphology of ulna	Uneori (5–29%)
Abnormality of the thighbone	Uneori (5–29%)
Absent/small fingers	Uneori (5–29%)
Asymmetric overgrowth	Uneori (5–29%)
Clubbed toes	Uneori (5–29%)
Curvature of little finger	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Finger syndactyly	Uneori (5–29%)
Finger-like thumb	Uneori (5–29%)
Fused toes	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Short thumb	Uneori (5–29%)
Underdeveloped inner large forearm bone	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Des (30–79%)
Almond shaped eyes	Des (30–79%)
Short opening between the eyelids	Des (30–79%)
Abnormality of the eyelid	Uneori (5–29%)
Aplasia/Hypoplasia of the uvula	Uneori (5–29%)
Blockage of the rear opening of the nasal cavity	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Facial asymmetry	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
High palate	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Long, narrow head	Uneori (5–29%)
Sloping forehead	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormality of the eye	Uneori (5–29%)
Abnormality of vision	Uneori (5–29%)
Abnormally small eyeball	Uneori (5–29%)
Absent iris	Uneori (5–29%)
Absent/small iris	Uneori (5–29%)
Amaurosis fugax	Uneori (5–29%)
Astigmatism	Uneori (5–29%)
Bulging eye	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Partial loss of field of vision	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Abnormality of blood and blood-forming tissues	Foarte des (80–99%)
Decreased blood leukocyte number	Foarte des (80–99%)
Low number of red blood cells or hemoglobin	Foarte des (80–99%)
Low platelet count	Foarte des (80–99%)
Pyridoxine-responsive sideroblastic anemia	Foarte des (80–99%)
Acute myeloid leukemia	Des (30–79%)
Gastrointestinal bleeding	Des (30–79%)
B Acute Lymphoblastic Leukemia	Uneori (5–29%)
Increased red blood cells	Uneori (5–29%)
Myelodysplasia	Uneori (5–29%)
Reduced von Willebrand factor activity	Uneori (5–29%)
T-cell acute lymphoblastic leukemias	Uneori (5–29%)
Bone marrow failure	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiac septum morphology	Des (30–79%)
Swollen lymph nodes	Des (30–79%)
Abnormal aortic morphology	Uneori (5–29%)
Abnormal aortic valve morphology	Uneori (5–29%)
Abnormal carotid artery morphology	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Arteriovenous malformation	Uneori (5–29%)
Cardiac diverticulum	Uneori (5–29%)
Enlarged and thickened heart muscle	Uneori (5–29%)
Enlarged liver and spleen	Uneori (5–29%)
High blood pressure	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Clay colored stools	Foarte des (80–99%)
Bloody urine	Des (30–79%)
Abnormality of creatine metabolism	Uneori (5–29%)
Diabetes mellitus	Uneori (5–29%)
Fever	Uneori (5–29%)
High blood calcium levels	Uneori (5–29%)
High liver enzymes	Uneori (5–29%)
Small amount of blood in urine	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal skin pigmentation	Foarte des (80–99%)
Irregular hyperpigmentation	Foarte des (80–99%)
Patchy loss of skin color	Foarte des (80–99%)
Birthmark	Des (30–79%)
Itching	Des (30–79%)
Basal cell carcinoma	Uneori (5–29%)
Multiple birthmarks	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Back pain	Foarte des (80–99%)
Low muscle tone	Des (30–79%)
Scoliosis	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Low solidness and mass of the bones	Uneori (5–29%)
Skeletal tumor	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	Întotdeauna
Short stature	Foarte des (80–99%)
Weight loss	Foarte des (80–99%)
Faltering weight	Des (30–79%)
Growth delay	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Abnormality of the hypothalamus-pituitary axis	Uneori (5–29%)
Decreased activity of gonads	Uneori (5–29%)
Neoplasm of the thyroid gland	Uneori (5–29%)
Noncancerous tumor in pituitary gland	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormally shaped ears	Uneori (5–29%)
Hearing abnormality	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Chronic fatigue	Foarte des (80–99%)
Fatigue	Foarte des (80–99%)
Malaise	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Abnormality of chromosome stability	Foarte des (80–99%)
Chromosomal breakage induced by crosslinking agents	Neînregistrat

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Abnormal tissue mass	Foarte des (80–99%)
Cancer of skin pigment cells	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Breast cancer	Des (30–79%)
Breast tumor	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Lung cancer	Uneori (5–29%)
Breathing difficulty	Rar (1–4%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Low levels of amniotic fluid	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu BRCA2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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