Požymiai

Su PALB2 susiję požymiai

partner and localizer of BRCA2

Žmogaus fenotipo ontologija sieja 153 požymių su PALB2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal kidney location	Visada
Abnormal fallopian tube morphology	Labai dažnai (80–99%)
Ovarian cancer	Labai dažnai (80–99%)
Abnormally shaped kidney	Dažnai (30–79%)
Nephroblastoma	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 kidney on one side	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%)
Pelvic kidney	Kartais (5–29%)
Prostate cancer	Kartais (5–29%)
Renal failure	Kartais (5–29%)
Undescended testes	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Pancreatic adenocarcinoma	Visada
Abdominal pain	Labai dažnai (80–99%)
Anorexia	Labai dažnai (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	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%)
Jaundice	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%)
Nausea and vomiting	Kartais (5–29%)
Peritoneal abscess	Kartais (5–29%)
Umbilical hernia	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Absent thumb	Visada
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%)
Short thumb	Dažnai (30–79%)
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%)
Underdeveloped outer large forearm bone	Kartais (5–29%)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Eye folds	Visada
Short neck	Visada
Abnormally small head	Labai dažnai (80–99%)
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%)
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 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%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Tetralogy of Fallot	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Wide-set eyes	Visada
Abnormally small eyeball	Dažnai (30–79%)
Abnormality of the eye	Kartais (5–29%)
Abnormality of vision	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%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Medulloblastoma	Dažnai (30–79%)
Abnormal shape of nervous system	Kartais (5–29%)
Cancer of early nerve cells	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%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Aplastic anemia	Visada
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	Kartais (5–29%)
Myelodysplasia	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Birthmark	Visada
Abnormal skin pigmentation	Labai dažnai (80–99%)
Irregular hyperpigmentation	Labai dažnai (80–99%)
Patchy loss of skin color	Labai dažnai (80–99%)
Multiple birthmarks	Kartais (5–29%)
Patchy darkened skin	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Growth delay as children	Visada
Small for gestational age	Visada
Short stature	Labai dažnai (80–99%)
Weight loss	Labai dažnai (80–99%)
Growth delay	Kartais (5–29%)
Prenatal growth deficiency	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
Chromosomal breakage induced by crosslinking agents	Visada
Abnormality of chromosome stability	Labai dažnai (80–99%)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Abnormal tissue mass	Dažnai (30–79%)
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%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Diabetes mellitus	Kartais (5–29%)
High liver enzymes	Kartais (5–29%)

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%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Chronic fatigue	Labai dažnai (80–99%)

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 PALB2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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