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.

Abnormality of the genitourinary system

Trait	Frequenza di osservazione
Abnormal kidney location	Sempre
Abnormal fallopian tube morphology	Molto spesso (80–99%)
Ovarian cancer	Molto spesso (80–99%)
Abnormally shaped kidney	Spesso (30–79%)
Nephroblastoma	Spesso (30–79%)
Urinary tract abnormalities	Spesso (30–79%)
Abnormal localisation of kidneys	A volte (5–29%)
Abnormal preputium morphology	A volte (5–29%)
Abnormality of the testis	A volte (5–29%)
Abnormality of the uterus	A volte (5–29%)
Absent kidney on one side	A volte (5–29%)
Absent sperm in semen	A volte (5–29%)
Absent testes	A volte (5–29%)
Absent/small kidney	A volte (5–29%)
Decreased fertility in males	A volte (5–29%)
Frequent urinary tract infections	A volte (5–29%)
Heart shaped uterus	A volte (5–29%)
Horseshoe kidney	A volte (5–29%)
Hydroureter	A volte (5–29%)
Hypospadias	A volte (5–29%)
Ovarian carcinoma	A volte (5–29%)
Pelvic kidney	A volte (5–29%)
Prostate cancer	A volte (5–29%)
Renal failure	A volte (5–29%)
Undescended testes	A volte (5–29%)

Abnormality of the digestive system

Trait	Frequenza di osservazione
Pancreatic adenocarcinoma	Sempre
Abdominal pain	Molto spesso (80–99%)
Anorexia	Molto spesso (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Molto spesso (80–99%)
Poor appetite	Molto spesso (80–99%)
Primary peritoneal carcinoma	Molto spesso (80–99%)
Extrahepatic cholestasis	Spesso (30–79%)
Functional intestinal obstruction	Spesso (30–79%)
Intestinal pseudo-obstruction	Spesso (30–79%)
Jaundice	Spesso (30–79%)
Abnormal connection between trachea and esophagus	A volte (5–29%)
Abnormality of the liver	A volte (5–29%)
Absent anus	A volte (5–29%)
Cancer of the pancreas	A volte (5–29%)
Colon cancer	A volte (5–29%)
Duodenal stenosis	A volte (5–29%)
Enlarged colon lacking nerve cells	A volte (5–29%)
Intermittent diarrhea	A volte (5–29%)
Liver cancer	A volte (5–29%)
Meckel diverticulum	A volte (5–29%)
Nausea and vomiting	A volte (5–29%)
Peritoneal abscess	A volte (5–29%)
Umbilical hernia	A volte (5–29%)

Abnormality of limbs

Trait	Frequenza di osservazione
Absent thumb	Sempre
Abnormality of the thumb	Molto spesso (80–99%)
Abnormality of the upper limb	Molto spesso (80–99%)
Aplasia/Hypoplasia of the radius	Molto spesso (80–99%)
Short thumb	Spesso (30–79%)
Abnormal feet structure	A volte (5–29%)
Abnormal morphology of ulna	A volte (5–29%)
Abnormality of the thighbone	A volte (5–29%)
Absent/small fingers	A volte (5–29%)
Clubbed toes	A volte (5–29%)
Curvature of little finger	A volte (5–29%)
Dropped arches	A volte (5–29%)
Finger syndactyly	A volte (5–29%)
Finger-like thumb	A volte (5–29%)
Fused toes	A volte (5–29%)
Hip dislocation	A volte (5–29%)
Underdeveloped inner large forearm bone	A volte (5–29%)
Underdeveloped outer large forearm bone	A volte (5–29%)

Abnormality of head or neck

Trait	Frequenza di osservazione
Eye folds	Sempre
Short neck	Sempre
Abnormally small head	Molto spesso (80–99%)
Almond shaped eyes	Spesso (30–79%)
Short opening between the eyelids	Spesso (30–79%)
Abnormality of the eyelid	A volte (5–29%)
Aplasia/Hypoplasia of the uvula	A volte (5–29%)
Blockage of the rear opening of the nasal cavity	A volte (5–29%)
Cleft palate	A volte (5–29%)
Facial asymmetry	A volte (5–29%)
Frontal bossing	A volte (5–29%)
High palate	A volte (5–29%)
Little lower jaw	A volte (5–29%)
Long, narrow head	A volte (5–29%)
Sloping forehead	A volte (5–29%)
Upward slanting of the opening between the eyelids	A volte (5–29%)

Abnormality of the cardiovascular system

Trait	Frequenza di osservazione
Abnormal cardiac septum morphology	Spesso (30–79%)
Swollen lymph nodes	Spesso (30–79%)
Abnormal aortic morphology	A volte (5–29%)
Abnormal aortic valve morphology	A volte (5–29%)
Abnormal carotid artery morphology	A volte (5–29%)
An opening in the wall separating the top two chambers of the heart	A volte (5–29%)
Arteriovenous malformation	A volte (5–29%)
Enlarged and thickened heart muscle	A volte (5–29%)
Enlarged liver and spleen	A volte (5–29%)
Hole in heart wall separating two lower heart chambers	A volte (5–29%)
Patent ductus arteriosus	A volte (5–29%)
Tetralogy of Fallot	A volte (5–29%)

Abnormality of the eye

Trait	Frequenza di osservazione
Wide-set eyes	Sempre
Abnormally small eyeball	Spesso (30–79%)
Abnormality of the eye	A volte (5–29%)
Abnormality of vision	A volte (5–29%)
Absent/small iris	A volte (5–29%)
Astigmatism	A volte (5–29%)
Bulging eye	A volte (5–29%)
Clouding of the lens of the eye	A volte (5–29%)
Cross-eyed	A volte (5–29%)
Drooping upper eyelid	A volte (5–29%)
Involuntary, rapid, rhythmic eye movements	A volte (5–29%)
Visual impairment	A volte (5–29%)

Abnormality of the nervous system

Trait	Frequenza di osservazione
Global developmental delay	Spesso (30–79%)
Intellectual disability	Spesso (30–79%)
Medulloblastoma	Spesso (30–79%)
Abnormal shape of nervous system	A volte (5–29%)
Cancer of early nerve cells	A volte (5–29%)
Cranial nerve paralysis	A volte (5–29%)
Increased reflexes	A volte (5–29%)
Split spine	A volte (5–29%)
Too much cerebrospinal fluid in the brain	A volte (5–29%)
Ventriculomegaly	A volte (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Frequenza di osservazione
Aplastic anemia	Sempre
Abnormality of blood and blood-forming tissues	Molto spesso (80–99%)
Decreased blood leukocyte number	Molto spesso (80–99%)
Low number of red blood cells or hemoglobin	Molto spesso (80–99%)
Low platelet count	Molto spesso (80–99%)
Pyridoxine-responsive sideroblastic anemia	Molto spesso (80–99%)
Acute myeloid leukemia	A volte (5–29%)
Myelodysplasia	A volte (5–29%)

Abnormality of the integument

Trait	Frequenza di osservazione
Birthmark	Sempre
Abnormal skin pigmentation	Molto spesso (80–99%)
Irregular hyperpigmentation	Molto spesso (80–99%)
Patchy loss of skin color	Molto spesso (80–99%)
Multiple birthmarks	A volte (5–29%)
Patchy darkened skin	A volte (5–29%)

Growth abnormality

Trait	Frequenza di osservazione
Growth delay as children	Sempre
Small for gestational age	Sempre
Short stature	Molto spesso (80–99%)
Weight loss	Molto spesso (80–99%)
Growth delay	A volte (5–29%)
Prenatal growth deficiency	A volte (5–29%)

Abnormality of the ear

Trait	Frequenza di osservazione
Abnormally shaped ears	A volte (5–29%)
Hearing abnormality	A volte (5–29%)
Hearing impairment	A volte (5–29%)

Abnormality of the musculoskeletal system

Trait	Frequenza di osservazione
Back pain	Molto spesso (80–99%)
Scoliosis	Spesso (30–79%)
Low solidness and mass of the bones	A volte (5–29%)

Abnormal cellular phenotype

Trait	Frequenza di osservazione
Chromosomal breakage induced by crosslinking agents	Sempre
Abnormality of chromosome stability	Molto spesso (80–99%)

Abnormal tissue mass

Trait	Frequenza di osservazione
Abnormal tissue mass	Spesso (30–79%)
Cancer of skin pigment cells	A volte (5–29%)

Abnormality of the endocrine system

Trait	Frequenza di osservazione
Abnormality of the hypothalamus-pituitary axis	A volte (5–29%)
Decreased activity of gonads	A volte (5–29%)

Laboratory abnormality

Trait	Frequenza di osservazione
Diabetes mellitus	A volte (5–29%)
High liver enzymes	A volte (5–29%)

Abnormality of prenatal development or birth

Trait	Frequenza di osservazione
Low levels of amniotic fluid	A volte (5–29%)

Abnormality of the breast

Trait	Frequenza di osservazione
Breast cancer	Spesso (30–79%)

Constitutional symptom

Trait	Frequenza di osservazione
Chronic fatigue	Molto spesso (80–99%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

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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