Požymiai

Su BRCA2 susiję požymiai

BRCA2 DNA repair associated

Žmogaus fenotipo ontologija sieja 212 požymių su BRCA2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

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

Abnormality of the digestive system

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

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal fallopian tube morphology	Labai dažnai (80–99%)
Nephroblastoma	Labai dažnai (80–99%)
Ovarian cancer	Labai dažnai (80–99%)
Abnormally shaped kidney	Dažnai (30–79%)
Urinary tract abnormalities	Dažnai (30–79%)
Abnormal kidney location	Kartais (5–29%)
Abnormal localisation of kidneys	Kartais (5–29%)
Abnormal preputium morphology	Kartais (5–29%)
Abnormal uterus morphology	Kartais (5–29%)
Abnormality of the testis	Kartais (5–29%)
Abnormality of the uterus	Kartais (5–29%)
Absent sperm in semen	Kartais (5–29%)
Absent testes	Kartais (5–29%)
Absent/small kidney	Kartais (5–29%)
Decreased fertility in males	Kartais (5–29%)
Frequent urinary tract infections	Kartais (5–29%)
Heart shaped uterus	Kartais (5–29%)
Horseshoe kidney	Kartais (5–29%)
Hydroureter	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Ovarian carcinoma	Kartais (5–29%)
Prostate cancer	Kartais (5–29%)
Renal failure	Kartais (5–29%)
Undescended testes	Kartais (5–29%)
Urinary tract neoplasm	Kartais (5–29%)
Varicocele	Kartais (5–29%)
Uterine cancer	Retai (1–4 %)
Kidney cancer	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Abnormality of the thumb	Labai dažnai (80–99%)
Abnormality of the upper limb	Labai dažnai (80–99%)
Aplasia/Hypoplasia of the radius	Labai dažnai (80–99%)
Abnormal feet structure	Kartais (5–29%)
Abnormal morphology of ulna	Kartais (5–29%)
Abnormality of the thighbone	Kartais (5–29%)
Absent/small fingers	Kartais (5–29%)
Asymmetric overgrowth	Kartais (5–29%)
Clubbed toes	Kartais (5–29%)
Curvature of little finger	Kartais (5–29%)
Dropped arches	Kartais (5–29%)
Finger syndactyly	Kartais (5–29%)
Finger-like thumb	Kartais (5–29%)
Fused toes	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)
Short thumb	Kartais (5–29%)
Underdeveloped inner large forearm bone	Kartais (5–29%)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormally small head	Dažnai (30–79%)
Almond shaped eyes	Dažnai (30–79%)
Short opening between the eyelids	Dažnai (30–79%)
Abnormality of the eyelid	Kartais (5–29%)
Aplasia/Hypoplasia of the uvula	Kartais (5–29%)
Blockage of the rear opening of the nasal cavity	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Facial asymmetry	Kartais (5–29%)
Frontal bossing	Kartais (5–29%)
High palate	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Long, narrow head	Kartais (5–29%)
Sloping forehead	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormality of the eye	Kartais (5–29%)
Abnormality of vision	Kartais (5–29%)
Abnormally small eyeball	Kartais (5–29%)
Absent iris	Kartais (5–29%)
Absent/small iris	Kartais (5–29%)
Amaurosis fugax	Kartais (5–29%)
Astigmatism	Kartais (5–29%)
Bulging eye	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Partial loss of field of vision	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Abnormality of blood and blood-forming tissues	Labai dažnai (80–99%)
Decreased blood leukocyte number	Labai dažnai (80–99%)
Low number of red blood cells or hemoglobin	Labai dažnai (80–99%)
Low platelet count	Labai dažnai (80–99%)
Pyridoxine-responsive sideroblastic anemia	Labai dažnai (80–99%)
Acute myeloid leukemia	Dažnai (30–79%)
Gastrointestinal bleeding	Dažnai (30–79%)
B Acute Lymphoblastic Leukemia	Kartais (5–29%)
Increased red blood cells	Kartais (5–29%)
Myelodysplasia	Kartais (5–29%)
Reduced von Willebrand factor activity	Kartais (5–29%)
T-cell acute lymphoblastic leukemias	Kartais (5–29%)
Bone marrow failure	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal cardiac septum morphology	Dažnai (30–79%)
Swollen lymph nodes	Dažnai (30–79%)
Abnormal aortic morphology	Kartais (5–29%)
Abnormal aortic valve morphology	Kartais (5–29%)
Abnormal carotid artery morphology	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Arteriovenous malformation	Kartais (5–29%)
Cardiac diverticulum	Kartais (5–29%)
Enlarged and thickened heart muscle	Kartais (5–29%)
Enlarged liver and spleen	Kartais (5–29%)
High blood pressure	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Tetralogy of Fallot	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Clay colored stools	Labai dažnai (80–99%)
Bloody urine	Dažnai (30–79%)
Abnormality of creatine metabolism	Kartais (5–29%)
Diabetes mellitus	Kartais (5–29%)
Fever	Kartais (5–29%)
High blood calcium levels	Kartais (5–29%)
High liver enzymes	Kartais (5–29%)
Small amount of blood in urine	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Abnormal skin pigmentation	Labai dažnai (80–99%)
Irregular hyperpigmentation	Labai dažnai (80–99%)
Patchy loss of skin color	Labai dažnai (80–99%)
Birthmark	Dažnai (30–79%)
Itching	Dažnai (30–79%)
Basal cell carcinoma	Kartais (5–29%)
Multiple birthmarks	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Back pain	Labai dažnai (80–99%)
Low muscle tone	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Spasticity and rigidity of muscles	Dažnai (30–79%)
Flexed joint that cannot be straightened	Kartais (5–29%)
Low solidness and mass of the bones	Kartais (5–29%)
Skeletal tumor	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Prenatal growth deficiency	Visada
Short stature	Labai dažnai (80–99%)
Weight loss	Labai dažnai (80–99%)
Faltering weight	Dažnai (30–79%)
Growth delay	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Abnormality of the hypothalamus-pituitary axis	Kartais (5–29%)
Decreased activity of gonads	Kartais (5–29%)
Neoplasm of the thyroid gland	Kartais (5–29%)
Noncancerous tumor in pituitary gland	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Abnormally shaped ears	Kartais (5–29%)
Hearing abnormality	Kartais (5–29%)
Hearing impairment	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Chronic fatigue	Labai dažnai (80–99%)
Fatigue	Labai dažnai (80–99%)
Malaise	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Abnormality of chromosome stability	Labai dažnai (80–99%)
Chromosomal breakage induced by crosslinking agents	Neužfiksuota

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Abnormal tissue mass	Labai dažnai (80–99%)
Cancer of skin pigment cells	Kartais (5–29%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Breast cancer	Dažnai (30–79%)
Breast tumor	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Lung cancer	Kartais (5–29%)
Breathing difficulty	Retai (1–4 %)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Low levels of amniotic fluid	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su BRCA2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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