Požymiai

Su BRCA1 susiję požymiai

BRCA1 DNA repair associated

Žmogaus fenotipo ontologija sieja 159 požymių su BRCA1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Pancreatic adenocarcinoma	Visada
Abdominal bloating	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%)
Nausea and vomiting	Labai dažnai (80–99%)
Peritonitis	Labai dažnai (80–99%)
Poor appetite	Labai dažnai (80–99%)
Primary peritoneal carcinoma	Labai dažnai (80–99%)
Extrahepatic cholestasis	Dažnai (30–79%)
Functional intestinal obstruction	Dažnai (30–79%)
Intestinal pseudo-obstruction	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%)
Duodenal stenosis	Kartais (5–29%)
Enlarged colon lacking nerve cells	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%)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormally small head	Visada
Coarse facial features	Visada
Low frontal hairline	Visada
Prominent nasal bridge	Visada
Underdeveloped tissue around nostril	Visada
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%)
Bad bite	Neužfiksuota
Full upper lip	Neužfiksuota
Increased size of tooth	Neužfiksuota
Long eyelashes	Neužfiksuota
Narrow opening between the eyelids	Neužfiksuota
Narrow palate	Neužfiksuota
Nasal tip, upturned	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Ovarian carcinoma	Visada
Abnormal fallopian tube morphology	Labai dažnai (80–99%)
Ovarian cancer	Labai dažnai (80–99%)
Abnormally shaped kidney	Dažnai (30–79%)
Urinary tract abnormalities	Dažnai (30–79%)
Abnormal localisation of kidneys	Kartais (5–29%)
Abnormal preputium 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%)
Hydroureter	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Prostate cancer	Kartais (5–29%)
Renal failure	Kartais (5–29%)
Undescended testes	Kartais (5–29%)

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%)
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%)
Underdeveloped inner large forearm bone	Kartais (5–29%)
Attachment of thumb close to wrist	Retai (1–4 %)
Curvature of digit	Neužfiksuota

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/small iris	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%)
Visual impairment	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

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%)
Enlarged and thickened heart muscle	Kartais (5–29%)
Enlarged liver and spleen	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Tetralogy of Fallot	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Visada
Intellectual disability	Dažnai (30–79%)
Abnormal shape of nervous system	Kartais (5–29%)
Cranial nerve paralysis	Kartais (5–29%)
Increased reflexes	Kartais (5–29%)
Split spine	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)
Delayed speech and language development	Neužfiksuota

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%)
Myelodysplasia	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%)
Itching	Dažnai (30–79%)
Multiple birthmarks	Kartais (5–29%)
Sparse hair	Neužfiksuota

Growth abnormality

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

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Clay colored stools	Labai dažnai (80–99%)
Diabetes mellitus	Kartais (5–29%)
Fever	Kartais (5–29%)
High liver enzymes	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%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Back pain	Labai dažnai (80–99%)
Scoliosis	Dažnai (30–79%)
Low solidness and mass of the bones	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Abnormality of chromosome stability	Labai dažnai (80–99%)
Chromosome breakage	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 endocrine system

Požymis	Kaip dažnai pasireiškia
Abnormality of the hypothalamus-pituitary axis	Kartais (5–29%)
Decreased activity of gonads	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Chronic fatigue	Labai dažnai (80–99%)
Fatigue	Dažnai (30–79%)

Abnormality of prenatal development or birth

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

Abnormality of the breast

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

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 BRCA1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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