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	Hvor ofte den forekommer
Abnormal kidney location	Alltid
Abnormal fallopian tube morphology	Svært ofte (80–99 %)
Ovarian cancer	Svært ofte (80–99 %)
Abnormally shaped kidney	Ofte (30–79 %)
Nephroblastoma	Ofte (30–79 %)
Urinary tract abnormalities	Ofte (30–79 %)
Abnormal localisation of kidneys	Noen ganger (5–29 %)
Abnormal preputium morphology	Noen ganger (5–29 %)
Abnormality of the testis	Noen ganger (5–29 %)
Abnormality of the uterus	Noen ganger (5–29 %)
Absent kidney on one side	Noen ganger (5–29 %)
Absent sperm in semen	Noen ganger (5–29 %)
Absent testes	Noen ganger (5–29 %)
Absent/small kidney	Noen ganger (5–29 %)
Decreased fertility in males	Noen ganger (5–29 %)
Frequent urinary tract infections	Noen ganger (5–29 %)
Heart shaped uterus	Noen ganger (5–29 %)
Horseshoe kidney	Noen ganger (5–29 %)
Hydroureter	Noen ganger (5–29 %)
Hypospadias	Noen ganger (5–29 %)
Ovarian carcinoma	Noen ganger (5–29 %)
Pelvic kidney	Noen ganger (5–29 %)
Prostate cancer	Noen ganger (5–29 %)
Renal failure	Noen ganger (5–29 %)
Undescended testes	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Pancreatic adenocarcinoma	Alltid
Abdominal pain	Svært ofte (80–99 %)
Anorexia	Svært ofte (80–99 %)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Svært ofte (80–99 %)
Poor appetite	Svært ofte (80–99 %)
Primary peritoneal carcinoma	Svært 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	Noen ganger (5–29 %)
Abnormality of the liver	Noen ganger (5–29 %)
Absent anus	Noen ganger (5–29 %)
Cancer of the pancreas	Noen ganger (5–29 %)
Colon cancer	Noen ganger (5–29 %)
Duodenal stenosis	Noen ganger (5–29 %)
Enlarged colon lacking nerve cells	Noen ganger (5–29 %)
Intermittent diarrhea	Noen ganger (5–29 %)
Liver cancer	Noen ganger (5–29 %)
Meckel diverticulum	Noen ganger (5–29 %)
Nausea and vomiting	Noen ganger (5–29 %)
Peritoneal abscess	Noen ganger (5–29 %)
Umbilical hernia	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Absent thumb	Alltid
Abnormality of the thumb	Svært ofte (80–99 %)
Abnormality of the upper limb	Svært ofte (80–99 %)
Aplasia/Hypoplasia of the radius	Svært ofte (80–99 %)
Short thumb	Ofte (30–79 %)
Abnormal feet structure	Noen ganger (5–29 %)
Abnormal morphology of ulna	Noen ganger (5–29 %)
Abnormality of the thighbone	Noen ganger (5–29 %)
Absent/small fingers	Noen ganger (5–29 %)
Clubbed toes	Noen ganger (5–29 %)
Curvature of little finger	Noen ganger (5–29 %)
Dropped arches	Noen ganger (5–29 %)
Finger syndactyly	Noen ganger (5–29 %)
Finger-like thumb	Noen ganger (5–29 %)
Fused toes	Noen ganger (5–29 %)
Hip dislocation	Noen ganger (5–29 %)
Underdeveloped inner large forearm bone	Noen ganger (5–29 %)
Underdeveloped outer large forearm bone	Noen ganger (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Eye folds	Alltid
Short neck	Alltid
Abnormally small head	Svært ofte (80–99 %)
Almond shaped eyes	Ofte (30–79 %)
Short opening between the eyelids	Ofte (30–79 %)
Abnormality of the eyelid	Noen ganger (5–29 %)
Aplasia/Hypoplasia of the uvula	Noen ganger (5–29 %)
Blockage of the rear opening of the nasal cavity	Noen ganger (5–29 %)
Cleft palate	Noen ganger (5–29 %)
Facial asymmetry	Noen ganger (5–29 %)
Frontal bossing	Noen ganger (5–29 %)
High palate	Noen ganger (5–29 %)
Little lower jaw	Noen ganger (5–29 %)
Long, narrow head	Noen ganger (5–29 %)
Sloping forehead	Noen ganger (5–29 %)
Upward slanting of the opening between the eyelids	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Abnormal cardiac septum morphology	Ofte (30–79 %)
Swollen lymph nodes	Ofte (30–79 %)
Abnormal aortic morphology	Noen ganger (5–29 %)
Abnormal aortic valve morphology	Noen ganger (5–29 %)
Abnormal carotid artery morphology	Noen ganger (5–29 %)
An opening in the wall separating the top two chambers of the heart	Noen ganger (5–29 %)
Arteriovenous malformation	Noen ganger (5–29 %)
Enlarged and thickened heart muscle	Noen ganger (5–29 %)
Enlarged liver and spleen	Noen ganger (5–29 %)
Hole in heart wall separating two lower heart chambers	Noen ganger (5–29 %)
Patent ductus arteriosus	Noen ganger (5–29 %)
Tetralogy of Fallot	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Wide-set eyes	Alltid
Abnormally small eyeball	Ofte (30–79 %)
Abnormality of the eye	Noen ganger (5–29 %)
Abnormality of vision	Noen ganger (5–29 %)
Absent/small iris	Noen ganger (5–29 %)
Astigmatism	Noen ganger (5–29 %)
Bulging eye	Noen ganger (5–29 %)
Clouding of the lens of the eye	Noen ganger (5–29 %)
Cross-eyed	Noen ganger (5–29 %)
Drooping upper eyelid	Noen ganger (5–29 %)
Involuntary, rapid, rhythmic eye movements	Noen ganger (5–29 %)
Visual impairment	Noen ganger (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Global developmental delay	Ofte (30–79 %)
Intellectual disability	Ofte (30–79 %)
Medulloblastoma	Ofte (30–79 %)
Abnormal shape of nervous system	Noen ganger (5–29 %)
Cancer of early nerve cells	Noen ganger (5–29 %)
Cranial nerve paralysis	Noen ganger (5–29 %)
Increased reflexes	Noen ganger (5–29 %)
Split spine	Noen ganger (5–29 %)
Too much cerebrospinal fluid in the brain	Noen ganger (5–29 %)
Ventriculomegaly	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Aplastic anemia	Alltid
Abnormality of blood and blood-forming tissues	Svært ofte (80–99 %)
Decreased blood leukocyte number	Svært ofte (80–99 %)
Low number of red blood cells or hemoglobin	Svært ofte (80–99 %)
Low platelet count	Svært ofte (80–99 %)
Pyridoxine-responsive sideroblastic anemia	Svært ofte (80–99 %)
Acute myeloid leukemia	Noen ganger (5–29 %)
Myelodysplasia	Noen ganger (5–29 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Birthmark	Alltid
Abnormal skin pigmentation	Svært ofte (80–99 %)
Irregular hyperpigmentation	Svært ofte (80–99 %)
Patchy loss of skin color	Svært ofte (80–99 %)
Multiple birthmarks	Noen ganger (5–29 %)
Patchy darkened skin	Noen ganger (5–29 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Growth delay as children	Alltid
Small for gestational age	Alltid
Short stature	Svært ofte (80–99 %)
Weight loss	Svært ofte (80–99 %)
Growth delay	Noen ganger (5–29 %)
Prenatal growth deficiency	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Abnormally shaped ears	Noen ganger (5–29 %)
Hearing abnormality	Noen ganger (5–29 %)
Hearing impairment	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Back pain	Svært ofte (80–99 %)
Scoliosis	Ofte (30–79 %)
Low solidness and mass of the bones	Noen ganger (5–29 %)

Abnormal cellular phenotype

Trait	Hvor ofte den forekommer
Chromosomal breakage induced by crosslinking agents	Alltid
Abnormality of chromosome stability	Svært ofte (80–99 %)

Abnormal tissue mass

Trait	Hvor ofte den forekommer
Abnormal tissue mass	Ofte (30–79 %)
Cancer of skin pigment cells	Noen ganger (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Abnormality of the hypothalamus-pituitary axis	Noen ganger (5–29 %)
Decreased activity of gonads	Noen ganger (5–29 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Diabetes mellitus	Noen ganger (5–29 %)
High liver enzymes	Noen ganger (5–29 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Low levels of amniotic fluid	Noen ganger (5–29 %)

Abnormality of the breast

Trait	Hvor ofte den forekommer
Breast cancer	Ofte (30–79 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Chronic fatigue	Svært ofte (80–99 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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