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	Ne sıklıkla görüldüğü
Abnormal kidney location	Her zaman
Abnormal fallopian tube morphology	Çok sık (%80–99)
Ovarian cancer	Çok sık (%80–99)
Abnormally shaped kidney	Sık (%30–79)
Nephroblastoma	Sık (%30–79)
Urinary tract abnormalities	Sık (%30–79)
Abnormal localisation of kidneys	Bazen (%5–29)
Abnormal preputium morphology	Bazen (%5–29)
Abnormality of the testis	Bazen (%5–29)
Abnormality of the uterus	Bazen (%5–29)
Absent kidney on one side	Bazen (%5–29)
Absent sperm in semen	Bazen (%5–29)
Absent testes	Bazen (%5–29)
Absent/small kidney	Bazen (%5–29)
Decreased fertility in males	Bazen (%5–29)
Frequent urinary tract infections	Bazen (%5–29)
Heart shaped uterus	Bazen (%5–29)
Horseshoe kidney	Bazen (%5–29)
Hydroureter	Bazen (%5–29)
Hypospadias	Bazen (%5–29)
Ovarian carcinoma	Bazen (%5–29)
Pelvic kidney	Bazen (%5–29)
Prostate cancer	Bazen (%5–29)
Renal failure	Bazen (%5–29)
Undescended testes	Bazen (%5–29)

Abnormality of the digestive system

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

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Absent thumb	Her zaman
Abnormality of the thumb	Çok sık (%80–99)
Abnormality of the upper limb	Çok sık (%80–99)
Aplasia/Hypoplasia of the radius	Çok sık (%80–99)
Short thumb	Sık (%30–79)
Abnormal feet structure	Bazen (%5–29)
Abnormal morphology of ulna	Bazen (%5–29)
Abnormality of the thighbone	Bazen (%5–29)
Absent/small fingers	Bazen (%5–29)
Clubbed toes	Bazen (%5–29)
Curvature of little finger	Bazen (%5–29)
Dropped arches	Bazen (%5–29)
Finger syndactyly	Bazen (%5–29)
Finger-like thumb	Bazen (%5–29)
Fused toes	Bazen (%5–29)
Hip dislocation	Bazen (%5–29)
Underdeveloped inner large forearm bone	Bazen (%5–29)
Underdeveloped outer large forearm bone	Bazen (%5–29)

Abnormality of head or neck

Trait	Ne sıklıkla görüldüğü
Eye folds	Her zaman
Short neck	Her zaman
Abnormally small head	Çok sık (%80–99)
Almond shaped eyes	Sık (%30–79)
Short opening between the eyelids	Sık (%30–79)
Abnormality of the eyelid	Bazen (%5–29)
Aplasia/Hypoplasia of the uvula	Bazen (%5–29)
Blockage of the rear opening of the nasal cavity	Bazen (%5–29)
Cleft palate	Bazen (%5–29)
Facial asymmetry	Bazen (%5–29)
Frontal bossing	Bazen (%5–29)
High palate	Bazen (%5–29)
Little lower jaw	Bazen (%5–29)
Long, narrow head	Bazen (%5–29)
Sloping forehead	Bazen (%5–29)
Upward slanting of the opening between the eyelids	Bazen (%5–29)

Abnormality of the cardiovascular system

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

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Wide-set eyes	Her zaman
Abnormally small eyeball	Sık (%30–79)
Abnormality of the eye	Bazen (%5–29)
Abnormality of vision	Bazen (%5–29)
Absent/small iris	Bazen (%5–29)
Astigmatism	Bazen (%5–29)
Bulging eye	Bazen (%5–29)
Clouding of the lens of the eye	Bazen (%5–29)
Cross-eyed	Bazen (%5–29)
Drooping upper eyelid	Bazen (%5–29)
Involuntary, rapid, rhythmic eye movements	Bazen (%5–29)
Visual impairment	Bazen (%5–29)

Abnormality of the nervous system

Trait	Ne sıklıkla görüldüğü
Global developmental delay	Sık (%30–79)
Intellectual disability	Sık (%30–79)
Medulloblastoma	Sık (%30–79)
Abnormal shape of nervous system	Bazen (%5–29)
Cancer of early nerve cells	Bazen (%5–29)
Cranial nerve paralysis	Bazen (%5–29)
Increased reflexes	Bazen (%5–29)
Split spine	Bazen (%5–29)
Too much cerebrospinal fluid in the brain	Bazen (%5–29)
Ventriculomegaly	Bazen (%5–29)

Abnormality of blood and blood-forming tissues

Trait	Ne sıklıkla görüldüğü
Aplastic anemia	Her zaman
Abnormality of blood and blood-forming tissues	Çok sık (%80–99)
Decreased blood leukocyte number	Çok sık (%80–99)
Low number of red blood cells or hemoglobin	Çok sık (%80–99)
Low platelet count	Çok sık (%80–99)
Pyridoxine-responsive sideroblastic anemia	Çok sık (%80–99)
Acute myeloid leukemia	Bazen (%5–29)
Myelodysplasia	Bazen (%5–29)

Abnormality of the integument

Trait	Ne sıklıkla görüldüğü
Birthmark	Her zaman
Abnormal skin pigmentation	Çok sık (%80–99)
Irregular hyperpigmentation	Çok sık (%80–99)
Patchy loss of skin color	Çok sık (%80–99)
Multiple birthmarks	Bazen (%5–29)
Patchy darkened skin	Bazen (%5–29)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Growth delay as children	Her zaman
Small for gestational age	Her zaman
Short stature	Çok sık (%80–99)
Weight loss	Çok sık (%80–99)
Growth delay	Bazen (%5–29)
Prenatal growth deficiency	Bazen (%5–29)

Abnormality of the ear

Trait	Ne sıklıkla görüldüğü
Abnormally shaped ears	Bazen (%5–29)
Hearing abnormality	Bazen (%5–29)
Hearing impairment	Bazen (%5–29)

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Back pain	Çok sık (%80–99)
Scoliosis	Sık (%30–79)
Low solidness and mass of the bones	Bazen (%5–29)

Abnormal cellular phenotype

Trait	Ne sıklıkla görüldüğü
Chromosomal breakage induced by crosslinking agents	Her zaman
Abnormality of chromosome stability	Çok sık (%80–99)

Abnormal tissue mass

Trait	Ne sıklıkla görüldüğü
Abnormal tissue mass	Sık (%30–79)
Cancer of skin pigment cells	Bazen (%5–29)

Abnormality of the endocrine system

Trait	Ne sıklıkla görüldüğü
Abnormality of the hypothalamus-pituitary axis	Bazen (%5–29)
Decreased activity of gonads	Bazen (%5–29)

Laboratory abnormality

Trait	Ne sıklıkla görüldüğü
Diabetes mellitus	Bazen (%5–29)
High liver enzymes	Bazen (%5–29)

Abnormality of prenatal development or birth

Trait	Ne sıklıkla görüldüğü
Low levels of amniotic fluid	Bazen (%5–29)

Abnormality of the breast

Trait	Ne sıklıkla görüldüğü
Breast cancer	Sık (%30–79)

Constitutional symptom

Trait	Ne sıklıkla görüldüğü
Chronic fatigue	Çok sık (%80–99)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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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