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Kirjaudu sisäänKysySekvensoi genomisi↗
Traits
Traits linked to PALB2
partner and localizer of BRCA2
The Human Phenotype Ontology links 153 traits to PALB2, by body system: features seen in people with one of the gene's rare conditions.
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Abnormality of the genitourinary system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Abnormal kidney location | Aina |
| Abnormal fallopian tube morphology | Hyvin usein (80–99%) |
| Ovarian cancer | Hyvin usein (80–99%) |
| Abnormally shaped kidney | Usein (30–79%) |
| Nephroblastoma | Usein (30–79%) |
| Urinary tract abnormalities | Usein (30–79%) |
| Abnormal localisation of kidneys | Joskus (5–29%) |
| Abnormal preputium morphology | Joskus (5–29%) |
| Abnormality of the testis | Joskus (5–29%) |
| Abnormality of the uterus | Joskus (5–29%) |
| Absent kidney on one side | Joskus (5–29%) |
| Absent sperm in semen | Joskus (5–29%) |
| Absent testes | Joskus (5–29%) |
| Absent/small kidney | Joskus (5–29%) |
| Decreased fertility in males | Joskus (5–29%) |
| Frequent urinary tract infections | Joskus (5–29%) |
| Heart shaped uterus | Joskus (5–29%) |
| Horseshoe kidney | Joskus (5–29%) |
| Hydroureter | Joskus (5–29%) |
| Hypospadias | Joskus (5–29%) |
| Ovarian carcinoma | Joskus (5–29%) |
| Pelvic kidney | Joskus (5–29%) |
| Prostate cancer | Joskus (5–29%) |
| Renal failure | Joskus (5–29%) |
| Undescended testes | Joskus (5–29%) |
Abnormality of the digestive system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Pancreatic adenocarcinoma | Aina |
| Abdominal pain | Hyvin usein (80–99%) |
| Anorexia | Hyvin usein (80–99%) |
| Inability to properly digest food due to lack of pancreatic digestive enzymes | Hyvin usein (80–99%) |
| Poor appetite | Hyvin usein (80–99%) |
| Primary peritoneal carcinoma | Hyvin usein (80–99%) |
| Extrahepatic cholestasis | Usein (30–79%) |
| Functional intestinal obstruction | Usein (30–79%) |
| Intestinal pseudo-obstruction | Usein (30–79%) |
| Jaundice | Usein (30–79%) |
| Abnormal connection between trachea and esophagus | Joskus (5–29%) |
| Abnormality of the liver | Joskus (5–29%) |
| Absent anus | Joskus (5–29%) |
| Cancer of the pancreas | Joskus (5–29%) |
| Colon cancer | Joskus (5–29%) |
| Duodenal stenosis | Joskus (5–29%) |
| Enlarged colon lacking nerve cells | Joskus (5–29%) |
| Intermittent diarrhea | Joskus (5–29%) |
| Liver cancer | Joskus (5–29%) |
| Meckel diverticulum | Joskus (5–29%) |
| Nausea and vomiting | Joskus (5–29%) |
| Peritoneal abscess | Joskus (5–29%) |
| Umbilical hernia | Joskus (5–29%) |
Abnormality of limbs
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Absent thumb | Aina |
| Abnormality of the thumb | Hyvin usein (80–99%) |
| Abnormality of the upper limb | Hyvin usein (80–99%) |
| Aplasia/Hypoplasia of the radius | Hyvin usein (80–99%) |
| Short thumb | Usein (30–79%) |
| Abnormal feet structure | Joskus (5–29%) |
| Abnormal morphology of ulna | Joskus (5–29%) |
| Abnormality of the thighbone | Joskus (5–29%) |
| Absent/small fingers | Joskus (5–29%) |
| Clubbed toes | Joskus (5–29%) |
| Curvature of little finger | Joskus (5–29%) |
| Dropped arches | Joskus (5–29%) |
| Finger syndactyly | Joskus (5–29%) |
| Finger-like thumb | Joskus (5–29%) |
| Fused toes | Joskus (5–29%) |
| Hip dislocation | Joskus (5–29%) |
| Underdeveloped inner large forearm bone | Joskus (5–29%) |
| Underdeveloped outer large forearm bone | Joskus (5–29%) |
Abnormality of head or neck
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Eye folds | Aina |
| Short neck | Aina |
| Abnormally small head | Hyvin usein (80–99%) |
| Almond shaped eyes | Usein (30–79%) |
| Short opening between the eyelids | Usein (30–79%) |
| Abnormality of the eyelid | Joskus (5–29%) |
| Aplasia/Hypoplasia of the uvula | Joskus (5–29%) |
| Blockage of the rear opening of the nasal cavity | Joskus (5–29%) |
| Cleft palate | Joskus (5–29%) |
| Facial asymmetry | Joskus (5–29%) |
| Frontal bossing | Joskus (5–29%) |
| High palate | Joskus (5–29%) |
| Little lower jaw | Joskus (5–29%) |
| Long, narrow head | Joskus (5–29%) |
| Sloping forehead | Joskus (5–29%) |
| Upward slanting of the opening between the eyelids | Joskus (5–29%) |
Abnormality of the cardiovascular system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Abnormal cardiac septum morphology | Usein (30–79%) |
| Swollen lymph nodes | Usein (30–79%) |
| Abnormal aortic morphology | Joskus (5–29%) |
| Abnormal aortic valve morphology | Joskus (5–29%) |
| Abnormal carotid artery morphology | Joskus (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Joskus (5–29%) |
| Arteriovenous malformation | Joskus (5–29%) |
| Enlarged and thickened heart muscle | Joskus (5–29%) |
| Enlarged liver and spleen | Joskus (5–29%) |
| Hole in heart wall separating two lower heart chambers | Joskus (5–29%) |
| Patent ductus arteriosus | Joskus (5–29%) |
| Tetralogy of Fallot | Joskus (5–29%) |
Abnormality of the eye
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Wide-set eyes | Aina |
| Abnormally small eyeball | Usein (30–79%) |
| Abnormality of the eye | Joskus (5–29%) |
| Abnormality of vision | Joskus (5–29%) |
| Absent/small iris | Joskus (5–29%) |
| Astigmatism | Joskus (5–29%) |
| Bulging eye | Joskus (5–29%) |
| Clouding of the lens of the eye | Joskus (5–29%) |
| Cross-eyed | Joskus (5–29%) |
| Drooping upper eyelid | Joskus (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Joskus (5–29%) |
| Visual impairment | Joskus (5–29%) |
Abnormality of the nervous system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Global developmental delay | Usein (30–79%) |
| Intellectual disability | Usein (30–79%) |
| Medulloblastoma | Usein (30–79%) |
| Abnormal shape of nervous system | Joskus (5–29%) |
| Cancer of early nerve cells | Joskus (5–29%) |
| Cranial nerve paralysis | Joskus (5–29%) |
| Increased reflexes | Joskus (5–29%) |
| Split spine | Joskus (5–29%) |
| Too much cerebrospinal fluid in the brain | Joskus (5–29%) |
| Ventriculomegaly | Joskus (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Aplastic anemia | Aina |
| Abnormality of blood and blood-forming tissues | Hyvin usein (80–99%) |
| Decreased blood leukocyte number | Hyvin usein (80–99%) |
| Low number of red blood cells or hemoglobin | Hyvin usein (80–99%) |
| Low platelet count | Hyvin usein (80–99%) |
| Pyridoxine-responsive sideroblastic anemia | Hyvin usein (80–99%) |
| Acute myeloid leukemia | Joskus (5–29%) |
| Myelodysplasia | Joskus (5–29%) |
Abnormality of the integument
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Birthmark | Aina |
| Abnormal skin pigmentation | Hyvin usein (80–99%) |
| Irregular hyperpigmentation | Hyvin usein (80–99%) |
| Patchy loss of skin color | Hyvin usein (80–99%) |
| Multiple birthmarks | Joskus (5–29%) |
| Patchy darkened skin | Joskus (5–29%) |
Growth abnormality
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Growth delay as children | Aina |
| Small for gestational age | Aina |
| Short stature | Hyvin usein (80–99%) |
| Weight loss | Hyvin usein (80–99%) |
| Growth delay | Joskus (5–29%) |
| Prenatal growth deficiency | Joskus (5–29%) |
Abnormality of the ear
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Abnormally shaped ears | Joskus (5–29%) |
| Hearing abnormality | Joskus (5–29%) |
| Hearing impairment | Joskus (5–29%) |
Abnormality of the musculoskeletal system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Back pain | Hyvin usein (80–99%) |
| Scoliosis | Usein (30–79%) |
| Low solidness and mass of the bones | Joskus (5–29%) |
Abnormal cellular phenotype
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Chromosomal breakage induced by crosslinking agents | Aina |
| Abnormality of chromosome stability | Hyvin usein (80–99%) |
Abnormal tissue mass
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Abnormal tissue mass | Usein (30–79%) |
| Cancer of skin pigment cells | Joskus (5–29%) |
Abnormality of the endocrine system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Joskus (5–29%) |
| Decreased activity of gonads | Joskus (5–29%) |
Laboratory abnormality
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Diabetes mellitus | Joskus (5–29%) |
| High liver enzymes | Joskus (5–29%) |
Abnormality of prenatal development or birth
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Low levels of amniotic fluid | Joskus (5–29%) |
Abnormality of the breast
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Breast cancer | Usein (30–79%) |
Constitutional symptom
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Chronic fatigue | Hyvin usein (80–99%) |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Mistä tämä tieto tulee
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to PALB2 and how often each is seen. Find out more at hpo.jax.org.
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