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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
| Trait | How often it is seen |
|---|---|
| Abnormal kidney location | Always |
| Abnormal fallopian tube morphology | Very often (80–99%) |
| Ovarian cancer | Very often (80–99%) |
| Abnormally shaped kidney | Often (30–79%) |
| Nephroblastoma | Often (30–79%) |
| Urinary tract abnormalities | Often (30–79%) |
| Abnormal localisation of kidneys | Sometimes (5–29%) |
| Abnormal preputium morphology | Sometimes (5–29%) |
| Abnormality of the testis | Sometimes (5–29%) |
| Abnormality of the uterus | Sometimes (5–29%) |
| Absent kidney on one side | Sometimes (5–29%) |
| Absent sperm in semen | Sometimes (5–29%) |
| Absent testes | Sometimes (5–29%) |
| Absent/small kidney | Sometimes (5–29%) |
| Decreased fertility in males | Sometimes (5–29%) |
| Frequent urinary tract infections | Sometimes (5–29%) |
| Heart shaped uterus | Sometimes (5–29%) |
| Horseshoe kidney | Sometimes (5–29%) |
| Hydroureter | Sometimes (5–29%) |
| Hypospadias | Sometimes (5–29%) |
| Ovarian carcinoma | Sometimes (5–29%) |
| Pelvic kidney | Sometimes (5–29%) |
| Prostate cancer | Sometimes (5–29%) |
| Renal failure | Sometimes (5–29%) |
| Undescended testes | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Pancreatic adenocarcinoma | Always |
| Abdominal pain | Very often (80–99%) |
| Anorexia | Very often (80–99%) |
| Inability to properly digest food due to lack of pancreatic digestive enzymes | Very often (80–99%) |
| Poor appetite | Very often (80–99%) |
| Primary peritoneal carcinoma | Very often (80–99%) |
| Extrahepatic cholestasis | Often (30–79%) |
| Functional intestinal obstruction | Often (30–79%) |
| Intestinal pseudo-obstruction | Often (30–79%) |
| Jaundice | Often (30–79%) |
| Abnormal connection between trachea and esophagus | Sometimes (5–29%) |
| Abnormality of the liver | Sometimes (5–29%) |
| Absent anus | Sometimes (5–29%) |
| Cancer of the pancreas | Sometimes (5–29%) |
| Colon cancer | Sometimes (5–29%) |
| Duodenal stenosis | Sometimes (5–29%) |
| Enlarged colon lacking nerve cells | Sometimes (5–29%) |
| Intermittent diarrhea | Sometimes (5–29%) |
| Liver cancer | Sometimes (5–29%) |
| Meckel diverticulum | Sometimes (5–29%) |
| Nausea and vomiting | Sometimes (5–29%) |
| Peritoneal abscess | Sometimes (5–29%) |
| Umbilical hernia | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Absent thumb | Always |
| Abnormality of the thumb | Very often (80–99%) |
| Abnormality of the upper limb | Very often (80–99%) |
| Aplasia/Hypoplasia of the radius | Very often (80–99%) |
| Short thumb | Often (30–79%) |
| Abnormal feet structure | Sometimes (5–29%) |
| Abnormal morphology of ulna | Sometimes (5–29%) |
| Abnormality of the thighbone | Sometimes (5–29%) |
| Absent/small fingers | Sometimes (5–29%) |
| Clubbed toes | Sometimes (5–29%) |
| Curvature of little finger | Sometimes (5–29%) |
| Dropped arches | Sometimes (5–29%) |
| Finger syndactyly | Sometimes (5–29%) |
| Finger-like thumb | Sometimes (5–29%) |
| Fused toes | Sometimes (5–29%) |
| Hip dislocation | Sometimes (5–29%) |
| Underdeveloped inner large forearm bone | Sometimes (5–29%) |
| Underdeveloped outer large forearm bone | Sometimes (5–29%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Eye folds | Always |
| Short neck | Always |
| Abnormally small head | Very often (80–99%) |
| Almond shaped eyes | Often (30–79%) |
| Short opening between the eyelids | Often (30–79%) |
| Abnormality of the eyelid | Sometimes (5–29%) |
| Aplasia/Hypoplasia of the uvula | Sometimes (5–29%) |
| Blockage of the rear opening of the nasal cavity | Sometimes (5–29%) |
| Cleft palate | Sometimes (5–29%) |
| Facial asymmetry | Sometimes (5–29%) |
| Frontal bossing | Sometimes (5–29%) |
| High palate | Sometimes (5–29%) |
| Little lower jaw | Sometimes (5–29%) |
| Long, narrow head | Sometimes (5–29%) |
| Sloping forehead | Sometimes (5–29%) |
| Upward slanting of the opening between the eyelids | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Abnormal cardiac septum morphology | Often (30–79%) |
| Swollen lymph nodes | Often (30–79%) |
| Abnormal aortic morphology | Sometimes (5–29%) |
| Abnormal aortic valve morphology | Sometimes (5–29%) |
| Abnormal carotid artery morphology | Sometimes (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Sometimes (5–29%) |
| Arteriovenous malformation | Sometimes (5–29%) |
| Enlarged and thickened heart muscle | Sometimes (5–29%) |
| Enlarged liver and spleen | Sometimes (5–29%) |
| Hole in heart wall separating two lower heart chambers | Sometimes (5–29%) |
| Patent ductus arteriosus | Sometimes (5–29%) |
| Tetralogy of Fallot | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Wide-set eyes | Always |
| Abnormally small eyeball | Often (30–79%) |
| Abnormality of the eye | Sometimes (5–29%) |
| Abnormality of vision | Sometimes (5–29%) |
| Absent/small iris | Sometimes (5–29%) |
| Astigmatism | Sometimes (5–29%) |
| Bulging eye | Sometimes (5–29%) |
| Clouding of the lens of the eye | Sometimes (5–29%) |
| Cross-eyed | Sometimes (5–29%) |
| Drooping upper eyelid | Sometimes (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Sometimes (5–29%) |
| Visual impairment | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Global developmental delay | Often (30–79%) |
| Intellectual disability | Often (30–79%) |
| Medulloblastoma | Often (30–79%) |
| Abnormal shape of nervous system | Sometimes (5–29%) |
| Cancer of early nerve cells | Sometimes (5–29%) |
| Cranial nerve paralysis | Sometimes (5–29%) |
| Increased reflexes | Sometimes (5–29%) |
| Split spine | Sometimes (5–29%) |
| Too much cerebrospinal fluid in the brain | Sometimes (5–29%) |
| Ventriculomegaly | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Aplastic anemia | Always |
| Abnormality of blood and blood-forming tissues | Very often (80–99%) |
| Decreased blood leukocyte number | Very often (80–99%) |
| Low number of red blood cells or hemoglobin | Very often (80–99%) |
| Low platelet count | Very often (80–99%) |
| Pyridoxine-responsive sideroblastic anemia | Very often (80–99%) |
| Acute myeloid leukemia | Sometimes (5–29%) |
| Myelodysplasia | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Birthmark | Always |
| Abnormal skin pigmentation | Very often (80–99%) |
| Irregular hyperpigmentation | Very often (80–99%) |
| Patchy loss of skin color | Very often (80–99%) |
| Multiple birthmarks | Sometimes (5–29%) |
| Patchy darkened skin | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Growth delay as children | Always |
| Small for gestational age | Always |
| Short stature | Very often (80–99%) |
| Weight loss | Very often (80–99%) |
| Growth delay | Sometimes (5–29%) |
| Prenatal growth deficiency | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Abnormally shaped ears | Sometimes (5–29%) |
| Hearing abnormality | Sometimes (5–29%) |
| Hearing impairment | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Back pain | Very often (80–99%) |
| Scoliosis | Often (30–79%) |
| Low solidness and mass of the bones | Sometimes (5–29%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Chromosomal breakage induced by crosslinking agents | Always |
| Abnormality of chromosome stability | Very often (80–99%) |
Abnormal tissue mass
| Trait | How often it is seen |
|---|---|
| Abnormal tissue mass | Often (30–79%) |
| Cancer of skin pigment cells | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Sometimes (5–29%) |
| Decreased activity of gonads | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Diabetes mellitus | Sometimes (5–29%) |
| High liver enzymes | Sometimes (5–29%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Low levels of amniotic fluid | Sometimes (5–29%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Breast cancer | Often (30–79%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Chronic fatigue | Very often (80–99%) |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Where this comes from
- 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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