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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.
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Abnormality of the genitourinary system
Abnormality of the digestive system
| Trait | Hvor ofte det ses |
|---|---|
| Pancreatic adenocarcinoma | Altid |
| Abdominal pain | Meget ofte (80–99 %) |
| Anorexia | Meget ofte (80–99 %) |
| Inability to properly digest food due to lack of pancreatic digestive enzymes | Meget ofte (80–99 %) |
| Poor appetite | Meget ofte (80–99 %) |
| Primary peritoneal carcinoma | Meget ofte (80–99 %) |
| Extrahepatic cholestasis | Ofte (30–79 %) |
| Functional intestinal obstruction | Ofte (30–79 %) |
| Intestinal pseudo-obstruction | Ofte (30–79 %) |
| Jaundice | Ofte (30–79 %) |
| Abnormal connection between trachea and esophagus | Nogle gange (5–29 %) |
| Abnormality of the liver | Nogle gange (5–29 %) |
| Absent anus | Nogle gange (5–29 %) |
| Cancer of the pancreas | Nogle gange (5–29 %) |
| Colon cancer | Nogle gange (5–29 %) |
| Duodenal stenosis | Nogle gange (5–29 %) |
| Enlarged colon lacking nerve cells | Nogle gange (5–29 %) |
| Intermittent diarrhea | Nogle gange (5–29 %) |
| Liver cancer | Nogle gange (5–29 %) |
| Meckel diverticulum | Nogle gange (5–29 %) |
| Nausea and vomiting | Nogle gange (5–29 %) |
| Peritoneal abscess | Nogle gange (5–29 %) |
| Umbilical hernia | Nogle gange (5–29 %) |
Abnormality of limbs
| Trait | Hvor ofte det ses |
|---|---|
| Absent thumb | Altid |
| Abnormality of the thumb | Meget ofte (80–99 %) |
| Abnormality of the upper limb | Meget ofte (80–99 %) |
| Aplasia/Hypoplasia of the radius | Meget ofte (80–99 %) |
| Short thumb | Ofte (30–79 %) |
| Abnormal feet structure | Nogle gange (5–29 %) |
| Abnormal morphology of ulna | Nogle gange (5–29 %) |
| Abnormality of the thighbone | Nogle gange (5–29 %) |
| Absent/small fingers | Nogle gange (5–29 %) |
| Clubbed toes | Nogle gange (5–29 %) |
| Curvature of little finger | Nogle gange (5–29 %) |
| Dropped arches | Nogle gange (5–29 %) |
| Finger syndactyly | Nogle gange (5–29 %) |
| Finger-like thumb | Nogle gange (5–29 %) |
| Fused toes | Nogle gange (5–29 %) |
| Hip dislocation | Nogle gange (5–29 %) |
| Underdeveloped inner large forearm bone | Nogle gange (5–29 %) |
| Underdeveloped outer large forearm bone | Nogle gange (5–29 %) |
Abnormality of head or neck
| Trait | Hvor ofte det ses |
|---|---|
| Eye folds | Altid |
| Short neck | Altid |
| Abnormally small head | Meget ofte (80–99 %) |
| Almond shaped eyes | Ofte (30–79 %) |
| Short opening between the eyelids | Ofte (30–79 %) |
| Abnormality of the eyelid | Nogle gange (5–29 %) |
| Aplasia/Hypoplasia of the uvula | Nogle gange (5–29 %) |
| Blockage of the rear opening of the nasal cavity | Nogle gange (5–29 %) |
| Cleft palate | Nogle gange (5–29 %) |
| Facial asymmetry | Nogle gange (5–29 %) |
| Frontal bossing | Nogle gange (5–29 %) |
| High palate | Nogle gange (5–29 %) |
| Little lower jaw | Nogle gange (5–29 %) |
| Long, narrow head | Nogle gange (5–29 %) |
| Sloping forehead | Nogle gange (5–29 %) |
| Upward slanting of the opening between the eyelids | Nogle gange (5–29 %) |
Abnormality of the cardiovascular system
| Trait | Hvor ofte det ses |
|---|---|
| Abnormal cardiac septum morphology | Ofte (30–79 %) |
| Swollen lymph nodes | Ofte (30–79 %) |
| Abnormal aortic morphology | Nogle gange (5–29 %) |
| Abnormal aortic valve morphology | Nogle gange (5–29 %) |
| Abnormal carotid artery morphology | Nogle gange (5–29 %) |
| An opening in the wall separating the top two chambers of the heart | Nogle gange (5–29 %) |
| Arteriovenous malformation | Nogle gange (5–29 %) |
| Enlarged and thickened heart muscle | Nogle gange (5–29 %) |
| Enlarged liver and spleen | Nogle gange (5–29 %) |
| Hole in heart wall separating two lower heart chambers | Nogle gange (5–29 %) |
| Patent ductus arteriosus | Nogle gange (5–29 %) |
| Tetralogy of Fallot | Nogle gange (5–29 %) |
Abnormality of the eye
| Trait | Hvor ofte det ses |
|---|---|
| Wide-set eyes | Altid |
| Abnormally small eyeball | Ofte (30–79 %) |
| Abnormality of the eye | Nogle gange (5–29 %) |
| Abnormality of vision | Nogle gange (5–29 %) |
| Absent/small iris | Nogle gange (5–29 %) |
| Astigmatism | Nogle gange (5–29 %) |
| Bulging eye | Nogle gange (5–29 %) |
| Clouding of the lens of the eye | Nogle gange (5–29 %) |
| Cross-eyed | Nogle gange (5–29 %) |
| Drooping upper eyelid | Nogle gange (5–29 %) |
| Involuntary, rapid, rhythmic eye movements | Nogle gange (5–29 %) |
| Visual impairment | Nogle gange (5–29 %) |
Abnormality of the nervous system
| Trait | Hvor ofte det ses |
|---|---|
| Global developmental delay | Ofte (30–79 %) |
| Intellectual disability | Ofte (30–79 %) |
| Medulloblastoma | Ofte (30–79 %) |
| Abnormal shape of nervous system | Nogle gange (5–29 %) |
| Cancer of early nerve cells | Nogle gange (5–29 %) |
| Cranial nerve paralysis | Nogle gange (5–29 %) |
| Increased reflexes | Nogle gange (5–29 %) |
| Split spine | Nogle gange (5–29 %) |
| Too much cerebrospinal fluid in the brain | Nogle gange (5–29 %) |
| Ventriculomegaly | Nogle gange (5–29 %) |
Abnormality of blood and blood-forming tissues
| Trait | Hvor ofte det ses |
|---|---|
| Aplastic anemia | Altid |
| Abnormality of blood and blood-forming tissues | Meget ofte (80–99 %) |
| Decreased blood leukocyte number | Meget ofte (80–99 %) |
| Low number of red blood cells or hemoglobin | Meget ofte (80–99 %) |
| Low platelet count | Meget ofte (80–99 %) |
| Pyridoxine-responsive sideroblastic anemia | Meget ofte (80–99 %) |
| Acute myeloid leukemia | Nogle gange (5–29 %) |
| Myelodysplasia | Nogle gange (5–29 %) |
Abnormality of the integument
| Trait | Hvor ofte det ses |
|---|---|
| Birthmark | Altid |
| Abnormal skin pigmentation | Meget ofte (80–99 %) |
| Irregular hyperpigmentation | Meget ofte (80–99 %) |
| Patchy loss of skin color | Meget ofte (80–99 %) |
| Multiple birthmarks | Nogle gange (5–29 %) |
| Patchy darkened skin | Nogle gange (5–29 %) |
Growth abnormality
| Trait | Hvor ofte det ses |
|---|---|
| Growth delay as children | Altid |
| Small for gestational age | Altid |
| Short stature | Meget ofte (80–99 %) |
| Weight loss | Meget ofte (80–99 %) |
| Growth delay | Nogle gange (5–29 %) |
| Prenatal growth deficiency | Nogle gange (5–29 %) |
Abnormality of the ear
| Trait | Hvor ofte det ses |
|---|---|
| Abnormally shaped ears | Nogle gange (5–29 %) |
| Hearing abnormality | Nogle gange (5–29 %) |
| Hearing impairment | Nogle gange (5–29 %) |
Abnormality of the musculoskeletal system
| Trait | Hvor ofte det ses |
|---|---|
| Back pain | Meget ofte (80–99 %) |
| Scoliosis | Ofte (30–79 %) |
| Low solidness and mass of the bones | Nogle gange (5–29 %) |
Abnormal cellular phenotype
| Trait | Hvor ofte det ses |
|---|---|
| Chromosomal breakage induced by crosslinking agents | Altid |
| Abnormality of chromosome stability | Meget ofte (80–99 %) |
Abnormal tissue mass
| Trait | Hvor ofte det ses |
|---|---|
| Abnormal tissue mass | Ofte (30–79 %) |
| Cancer of skin pigment cells | Nogle gange (5–29 %) |
Abnormality of the endocrine system
| Trait | Hvor ofte det ses |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Nogle gange (5–29 %) |
| Decreased activity of gonads | Nogle gange (5–29 %) |
Laboratory abnormality
| Trait | Hvor ofte det ses |
|---|---|
| Diabetes mellitus | Nogle gange (5–29 %) |
| High liver enzymes | Nogle gange (5–29 %) |
Abnormality of prenatal development or birth
| Trait | Hvor ofte det ses |
|---|---|
| Low levels of amniotic fluid | Nogle gange (5–29 %) |
Abnormality of the breast
| Trait | Hvor ofte det ses |
|---|---|
| Breast cancer | Ofte (30–79 %) |
Constitutional symptom
| Trait | Hvor ofte det ses |
|---|---|
| Chronic fatigue | Meget ofte (80–99 %) |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Hvor oplysningerne kommer fra
- 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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