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	나타나는 빈도
Abnormal kidney location	항상
Abnormal fallopian tube morphology	매우 자주 (80–99%)
Ovarian cancer	매우 자주 (80–99%)
Abnormally shaped kidney	자주 (30–79%)
Nephroblastoma	자주 (30–79%)
Urinary tract abnormalities	자주 (30–79%)
Abnormal localisation of kidneys	가끔 (5–29%)
Abnormal preputium morphology	가끔 (5–29%)
Abnormality of the testis	가끔 (5–29%)
Abnormality of the uterus	가끔 (5–29%)
Absent kidney on one side	가끔 (5–29%)
Absent sperm in semen	가끔 (5–29%)
Absent testes	가끔 (5–29%)
Absent/small kidney	가끔 (5–29%)
Decreased fertility in males	가끔 (5–29%)
Frequent urinary tract infections	가끔 (5–29%)
Heart shaped uterus	가끔 (5–29%)
Horseshoe kidney	가끔 (5–29%)
Hydroureter	가끔 (5–29%)
Hypospadias	가끔 (5–29%)
Ovarian carcinoma	가끔 (5–29%)
Pelvic kidney	가끔 (5–29%)
Prostate cancer	가끔 (5–29%)
Renal failure	가끔 (5–29%)
Undescended testes	가끔 (5–29%)

Abnormality of the digestive system

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

Abnormality of limbs

Trait	나타나는 빈도
Absent thumb	항상
Abnormality of the thumb	매우 자주 (80–99%)
Abnormality of the upper limb	매우 자주 (80–99%)
Aplasia/Hypoplasia of the radius	매우 자주 (80–99%)
Short thumb	자주 (30–79%)
Abnormal feet structure	가끔 (5–29%)
Abnormal morphology of ulna	가끔 (5–29%)
Abnormality of the thighbone	가끔 (5–29%)
Absent/small fingers	가끔 (5–29%)
Clubbed toes	가끔 (5–29%)
Curvature of little finger	가끔 (5–29%)
Dropped arches	가끔 (5–29%)
Finger syndactyly	가끔 (5–29%)
Finger-like thumb	가끔 (5–29%)
Fused toes	가끔 (5–29%)
Hip dislocation	가끔 (5–29%)
Underdeveloped inner large forearm bone	가끔 (5–29%)
Underdeveloped outer large forearm bone	가끔 (5–29%)

Abnormality of head or neck

Trait	나타나는 빈도
Eye folds	항상
Short neck	항상
Abnormally small head	매우 자주 (80–99%)
Almond shaped eyes	자주 (30–79%)
Short opening between the eyelids	자주 (30–79%)
Abnormality of the eyelid	가끔 (5–29%)
Aplasia/Hypoplasia of the uvula	가끔 (5–29%)
Blockage of the rear opening of the nasal cavity	가끔 (5–29%)
Cleft palate	가끔 (5–29%)
Facial asymmetry	가끔 (5–29%)
Frontal bossing	가끔 (5–29%)
High palate	가끔 (5–29%)
Little lower jaw	가끔 (5–29%)
Long, narrow head	가끔 (5–29%)
Sloping forehead	가끔 (5–29%)
Upward slanting of the opening between the eyelids	가끔 (5–29%)

Abnormality of the cardiovascular system

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

Abnormality of the eye

Trait	나타나는 빈도
Wide-set eyes	항상
Abnormally small eyeball	자주 (30–79%)
Abnormality of the eye	가끔 (5–29%)
Abnormality of vision	가끔 (5–29%)
Absent/small iris	가끔 (5–29%)
Astigmatism	가끔 (5–29%)
Bulging eye	가끔 (5–29%)
Clouding of the lens of the eye	가끔 (5–29%)
Cross-eyed	가끔 (5–29%)
Drooping upper eyelid	가끔 (5–29%)
Involuntary, rapid, rhythmic eye movements	가끔 (5–29%)
Visual impairment	가끔 (5–29%)

Abnormality of the nervous system

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

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Aplastic anemia	항상
Abnormality of blood and blood-forming tissues	매우 자주 (80–99%)
Decreased blood leukocyte number	매우 자주 (80–99%)
Low number of red blood cells or hemoglobin	매우 자주 (80–99%)
Low platelet count	매우 자주 (80–99%)
Pyridoxine-responsive sideroblastic anemia	매우 자주 (80–99%)
Acute myeloid leukemia	가끔 (5–29%)
Myelodysplasia	가끔 (5–29%)

Abnormality of the integument

Trait	나타나는 빈도
Birthmark	항상
Abnormal skin pigmentation	매우 자주 (80–99%)
Irregular hyperpigmentation	매우 자주 (80–99%)
Patchy loss of skin color	매우 자주 (80–99%)
Multiple birthmarks	가끔 (5–29%)
Patchy darkened skin	가끔 (5–29%)

Growth abnormality

Trait	나타나는 빈도
Growth delay as children	항상
Small for gestational age	항상
Short stature	매우 자주 (80–99%)
Weight loss	매우 자주 (80–99%)
Growth delay	가끔 (5–29%)
Prenatal growth deficiency	가끔 (5–29%)

Abnormality of the ear

Trait	나타나는 빈도
Abnormally shaped ears	가끔 (5–29%)
Hearing abnormality	가끔 (5–29%)
Hearing impairment	가끔 (5–29%)

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Back pain	매우 자주 (80–99%)
Scoliosis	자주 (30–79%)
Low solidness and mass of the bones	가끔 (5–29%)

Abnormal cellular phenotype

Trait	나타나는 빈도
Chromosomal breakage induced by crosslinking agents	항상
Abnormality of chromosome stability	매우 자주 (80–99%)

Abnormal tissue mass

Trait	나타나는 빈도
Abnormal tissue mass	자주 (30–79%)
Cancer of skin pigment cells	가끔 (5–29%)

Abnormality of the endocrine system

Trait	나타나는 빈도
Abnormality of the hypothalamus-pituitary axis	가끔 (5–29%)
Decreased activity of gonads	가끔 (5–29%)

Laboratory abnormality

Trait	나타나는 빈도
Diabetes mellitus	가끔 (5–29%)
High liver enzymes	가끔 (5–29%)

Abnormality of prenatal development or birth

Trait	나타나는 빈도
Low levels of amniotic fluid	가끔 (5–29%)

Abnormality of the breast

Trait	나타나는 빈도
Breast cancer	자주 (30–79%)

Constitutional symptom

Trait	나타나는 빈도
Chronic fatigue	매우 자주 (80–99%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

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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