AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnused
Geeniga PALB2 seotud tunnused
partner and localizer of BRCA2
Inimese fenotüübi ontoloogia seostab geeniga PALB2 153 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal kidney location | Alati |
| Abnormal fallopian tube morphology | Väga sageli (80–99%) |
| Ovarian cancer | Väga sageli (80–99%) |
| Abnormally shaped kidney | Sageli (30–79%) |
| Nephroblastoma | Sageli (30–79%) |
| Urinary tract abnormalities | Sageli (30–79%) |
| Abnormal localisation of kidneys | Mõnikord (5–29%) |
| Abnormal preputium morphology | Mõnikord (5–29%) |
| Abnormality of the testis | Mõnikord (5–29%) |
| Abnormality of the uterus | Mõnikord (5–29%) |
| Absent kidney on one side | Mõnikord (5–29%) |
| Absent sperm in semen | Mõnikord (5–29%) |
| Absent testes | Mõnikord (5–29%) |
| Absent/small kidney | Mõnikord (5–29%) |
| Decreased fertility in males | Mõnikord (5–29%) |
| Frequent urinary tract infections | Mõnikord (5–29%) |
| Heart shaped uterus | Mõnikord (5–29%) |
| Horseshoe kidney | Mõnikord (5–29%) |
| Hydroureter | Mõnikord (5–29%) |
| Hypospadias | Mõnikord (5–29%) |
| Ovarian carcinoma | Mõnikord (5–29%) |
| Pelvic kidney | Mõnikord (5–29%) |
| Prostate cancer | Mõnikord (5–29%) |
| Renal failure | Mõnikord (5–29%) |
| Undescended testes | Mõnikord (5–29%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Pancreatic adenocarcinoma | Alati |
| Abdominal pain | Väga sageli (80–99%) |
| Anorexia | Väga sageli (80–99%) |
| Inability to properly digest food due to lack of pancreatic digestive enzymes | Väga sageli (80–99%) |
| Poor appetite | Väga sageli (80–99%) |
| Primary peritoneal carcinoma | Väga sageli (80–99%) |
| Extrahepatic cholestasis | Sageli (30–79%) |
| Functional intestinal obstruction | Sageli (30–79%) |
| Intestinal pseudo-obstruction | Sageli (30–79%) |
| Jaundice | Sageli (30–79%) |
| Abnormal connection between trachea and esophagus | Mõnikord (5–29%) |
| Abnormality of the liver | Mõnikord (5–29%) |
| Absent anus | Mõnikord (5–29%) |
| Cancer of the pancreas | Mõnikord (5–29%) |
| Colon cancer | Mõnikord (5–29%) |
| Duodenal stenosis | Mõnikord (5–29%) |
| Enlarged colon lacking nerve cells | Mõnikord (5–29%) |
| Intermittent diarrhea | Mõnikord (5–29%) |
| Liver cancer | Mõnikord (5–29%) |
| Meckel diverticulum | Mõnikord (5–29%) |
| Nausea and vomiting | Mõnikord (5–29%) |
| Peritoneal abscess | Mõnikord (5–29%) |
| Umbilical hernia | Mõnikord (5–29%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent thumb | Alati |
| Abnormality of the thumb | Väga sageli (80–99%) |
| Abnormality of the upper limb | Väga sageli (80–99%) |
| Aplasia/Hypoplasia of the radius | Väga sageli (80–99%) |
| Short thumb | Sageli (30–79%) |
| Abnormal feet structure | Mõnikord (5–29%) |
| Abnormal morphology of ulna | Mõnikord (5–29%) |
| Abnormality of the thighbone | Mõnikord (5–29%) |
| Absent/small fingers | Mõnikord (5–29%) |
| Clubbed toes | Mõnikord (5–29%) |
| Curvature of little finger | Mõnikord (5–29%) |
| Dropped arches | Mõnikord (5–29%) |
| Finger syndactyly | Mõnikord (5–29%) |
| Finger-like thumb | Mõnikord (5–29%) |
| Fused toes | Mõnikord (5–29%) |
| Hip dislocation | Mõnikord (5–29%) |
| Underdeveloped inner large forearm bone | Mõnikord (5–29%) |
| Underdeveloped outer large forearm bone | Mõnikord (5–29%) |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Eye folds | Alati |
| Short neck | Alati |
| Abnormally small head | Väga sageli (80–99%) |
| Almond shaped eyes | Sageli (30–79%) |
| Short opening between the eyelids | Sageli (30–79%) |
| Abnormality of the eyelid | Mõnikord (5–29%) |
| Aplasia/Hypoplasia of the uvula | Mõnikord (5–29%) |
| Blockage of the rear opening of the nasal cavity | Mõnikord (5–29%) |
| Cleft palate | Mõnikord (5–29%) |
| Facial asymmetry | Mõnikord (5–29%) |
| Frontal bossing | Mõnikord (5–29%) |
| High palate | Mõnikord (5–29%) |
| Little lower jaw | Mõnikord (5–29%) |
| Long, narrow head | Mõnikord (5–29%) |
| Sloping forehead | Mõnikord (5–29%) |
| Upward slanting of the opening between the eyelids | Mõnikord (5–29%) |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal cardiac septum morphology | Sageli (30–79%) |
| Swollen lymph nodes | Sageli (30–79%) |
| Abnormal aortic morphology | Mõnikord (5–29%) |
| Abnormal aortic valve morphology | Mõnikord (5–29%) |
| Abnormal carotid artery morphology | Mõnikord (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Mõnikord (5–29%) |
| Arteriovenous malformation | Mõnikord (5–29%) |
| Enlarged and thickened heart muscle | Mõnikord (5–29%) |
| Enlarged liver and spleen | Mõnikord (5–29%) |
| Hole in heart wall separating two lower heart chambers | Mõnikord (5–29%) |
| Patent ductus arteriosus | Mõnikord (5–29%) |
| Tetralogy of Fallot | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Wide-set eyes | Alati |
| Abnormally small eyeball | Sageli (30–79%) |
| Abnormality of the eye | Mõnikord (5–29%) |
| Abnormality of vision | Mõnikord (5–29%) |
| Absent/small iris | Mõnikord (5–29%) |
| Astigmatism | Mõnikord (5–29%) |
| Bulging eye | Mõnikord (5–29%) |
| Clouding of the lens of the eye | Mõnikord (5–29%) |
| Cross-eyed | Mõnikord (5–29%) |
| Drooping upper eyelid | Mõnikord (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Mõnikord (5–29%) |
| Visual impairment | Mõnikord (5–29%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Global developmental delay | Sageli (30–79%) |
| Intellectual disability | Sageli (30–79%) |
| Medulloblastoma | Sageli (30–79%) |
| Abnormal shape of nervous system | Mõnikord (5–29%) |
| Cancer of early nerve cells | Mõnikord (5–29%) |
| Cranial nerve paralysis | Mõnikord (5–29%) |
| Increased reflexes | Mõnikord (5–29%) |
| Split spine | Mõnikord (5–29%) |
| Too much cerebrospinal fluid in the brain | Mõnikord (5–29%) |
| Ventriculomegaly | Mõnikord (5–29%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Aplastic anemia | Alati |
| Abnormality of blood and blood-forming tissues | Väga sageli (80–99%) |
| Decreased blood leukocyte number | Väga sageli (80–99%) |
| Low number of red blood cells or hemoglobin | Väga sageli (80–99%) |
| Low platelet count | Väga sageli (80–99%) |
| Pyridoxine-responsive sideroblastic anemia | Väga sageli (80–99%) |
| Acute myeloid leukemia | Mõnikord (5–29%) |
| Myelodysplasia | Mõnikord (5–29%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Birthmark | Alati |
| Abnormal skin pigmentation | Väga sageli (80–99%) |
| Irregular hyperpigmentation | Väga sageli (80–99%) |
| Patchy loss of skin color | Väga sageli (80–99%) |
| Multiple birthmarks | Mõnikord (5–29%) |
| Patchy darkened skin | Mõnikord (5–29%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Growth delay as children | Alati |
| Small for gestational age | Alati |
| Short stature | Väga sageli (80–99%) |
| Weight loss | Väga sageli (80–99%) |
| Growth delay | Mõnikord (5–29%) |
| Prenatal growth deficiency | Mõnikord (5–29%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally shaped ears | Mõnikord (5–29%) |
| Hearing abnormality | Mõnikord (5–29%) |
| Hearing impairment | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Back pain | Väga sageli (80–99%) |
| Scoliosis | Sageli (30–79%) |
| Low solidness and mass of the bones | Mõnikord (5–29%) |
Abnormal cellular phenotype
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Chromosomal breakage induced by crosslinking agents | Alati |
| Abnormality of chromosome stability | Väga sageli (80–99%) |
Abnormal tissue mass
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal tissue mass | Sageli (30–79%) |
| Cancer of skin pigment cells | Mõnikord (5–29%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Mõnikord (5–29%) |
| Decreased activity of gonads | Mõnikord (5–29%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Diabetes mellitus | Mõnikord (5–29%) |
| High liver enzymes | Mõnikord (5–29%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Low levels of amniotic fluid | Mõnikord (5–29%) |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Breast cancer | Sageli (30–79%) |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Chronic fatigue | Väga sageli (80–99%) |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga PALB2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast