Traits

Traits linked to BRCA2

BRCA2 DNA repair associated

The Human Phenotype Ontology links 212 traits to BRCA2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kuinka usein sitä esiintyy
Glioblastoma multiforme	Hyvin usein (80–99%)
Anxiety	Usein (30–79%)
Attention deficit	Usein (30–79%)
Behavioral abnormality	Usein (30–79%)
Depression	Usein (30–79%)
Epilepsy	Usein (30–79%)
Global developmental delay	Usein (30–79%)
Intellectual disability	Usein (30–79%)
Irritability	Usein (30–79%)
Migraine	Usein (30–79%)
Rise in pressure inside skull	Usein (30–79%)
Abnormal gait	Joskus (5–29%)
Abnormal pyramidal sign	Joskus (5–29%)
Abnormal shape of nervous system	Joskus (5–29%)
Abnormal speech pattern	Joskus (5–29%)
Astrocytoma	Joskus (5–29%)
Benign neoplasm of the central nervous system	Joskus (5–29%)
Cancer of early nerve cells	Joskus (5–29%)
Cranial nerve paralysis	Joskus (5–29%)
Difficulty articulating speech	Joskus (5–29%)
Disorder of involuntary muscle movements	Joskus (5–29%)
Disturbed sensory perception	Joskus (5–29%)
Dysgraphia	Joskus (5–29%)
Hallucinations	Joskus (5–29%)
Increased reflexes	Joskus (5–29%)
Loss of developmental milestones	Joskus (5–29%)
Medulloblastoma	Joskus (5–29%)
Memory impairment	Joskus (5–29%)
Paralysis or weakness of one side of body	Joskus (5–29%)
Pins and needles feeling	Joskus (5–29%)
Split spine	Joskus (5–29%)
Too much cerebrospinal fluid in the brain	Joskus (5–29%)
Ventriculomegaly	Joskus (5–29%)

Abnormality of the digestive system

Trait	Kuinka usein sitä esiintyy
Pancreatic adenocarcinoma	Aina
Abdominal mass	Hyvin usein (80–99%)
Abdominal pain	Hyvin usein (80–99%)
Anorexia	Hyvin usein (80–99%)
Biliary tract neoplasm	Hyvin usein (80–99%)
Constipation	Hyvin usein (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Hyvin usein (80–99%)
Jaundice	Hyvin usein (80–99%)
Malabsorption	Hyvin usein (80–99%)
Poor appetite	Hyvin usein (80–99%)
Primary peritoneal carcinoma	Hyvin usein (80–99%)
Duplication of renal pelvis	Usein (30–79%)
Extrahepatic cholestasis	Usein (30–79%)
Functional intestinal obstruction	Usein (30–79%)
Intestinal pseudo-obstruction	Usein (30–79%)
Nausea and vomiting	Usein (30–79%)
Rectal tumor	Usein (30–79%)
Abnormal connection between trachea and esophagus	Joskus (5–29%)
Abnormality of the liver	Joskus (5–29%)
Absent anus	Joskus (5–29%)
Cancer of the pancreas	Joskus (5–29%)
Colon cancer	Joskus (5–29%)
Colon tumor	Joskus (5–29%)
Duodenal stenosis	Joskus (5–29%)
Enlarged colon lacking nerve cells	Joskus (5–29%)
Hepatocellular carcinoma	Joskus (5–29%)
Intermittent diarrhea	Joskus (5–29%)
Liver cancer	Joskus (5–29%)
Meckel diverticulum	Joskus (5–29%)
Peritoneal abscess	Joskus (5–29%)
Umbilical hernia	Joskus (5–29%)
Stomach cancer	Harvinainen (1–4 %)

Abnormality of the genitourinary system

Trait	Kuinka usein sitä esiintyy
Abnormal fallopian tube morphology	Hyvin usein (80–99%)
Nephroblastoma	Hyvin usein (80–99%)
Ovarian cancer	Hyvin usein (80–99%)
Abnormally shaped kidney	Usein (30–79%)
Urinary tract abnormalities	Usein (30–79%)
Abnormal kidney location	Joskus (5–29%)
Abnormal localisation of kidneys	Joskus (5–29%)
Abnormal preputium morphology	Joskus (5–29%)
Abnormal uterus morphology	Joskus (5–29%)
Abnormality of the testis	Joskus (5–29%)
Abnormality of the uterus	Joskus (5–29%)
Absent sperm in semen	Joskus (5–29%)
Absent testes	Joskus (5–29%)
Absent/small kidney	Joskus (5–29%)
Decreased fertility in males	Joskus (5–29%)
Frequent urinary tract infections	Joskus (5–29%)
Heart shaped uterus	Joskus (5–29%)
Horseshoe kidney	Joskus (5–29%)
Hydroureter	Joskus (5–29%)
Hypospadias	Joskus (5–29%)
Ovarian carcinoma	Joskus (5–29%)
Prostate cancer	Joskus (5–29%)
Renal failure	Joskus (5–29%)
Undescended testes	Joskus (5–29%)
Urinary tract neoplasm	Joskus (5–29%)
Varicocele	Joskus (5–29%)
Uterine cancer	Harvinainen (1–4 %)
Kidney cancer	Ei kirjattu

Abnormality of limbs

Trait	Kuinka usein sitä esiintyy
Abnormality of the thumb	Hyvin usein (80–99%)
Abnormality of the upper limb	Hyvin usein (80–99%)
Aplasia/Hypoplasia of the radius	Hyvin usein (80–99%)
Abnormal feet structure	Joskus (5–29%)
Abnormal morphology of ulna	Joskus (5–29%)
Abnormality of the thighbone	Joskus (5–29%)
Absent/small fingers	Joskus (5–29%)
Asymmetric overgrowth	Joskus (5–29%)
Clubbed toes	Joskus (5–29%)
Curvature of little finger	Joskus (5–29%)
Dropped arches	Joskus (5–29%)
Finger syndactyly	Joskus (5–29%)
Finger-like thumb	Joskus (5–29%)
Fused toes	Joskus (5–29%)
Hip dislocation	Joskus (5–29%)
Short thumb	Joskus (5–29%)
Underdeveloped inner large forearm bone	Joskus (5–29%)

Abnormality of head or neck

Trait	Kuinka usein sitä esiintyy
Abnormally small head	Usein (30–79%)
Almond shaped eyes	Usein (30–79%)
Short opening between the eyelids	Usein (30–79%)
Abnormality of the eyelid	Joskus (5–29%)
Aplasia/Hypoplasia of the uvula	Joskus (5–29%)
Blockage of the rear opening of the nasal cavity	Joskus (5–29%)
Cleft palate	Joskus (5–29%)
Eye folds	Joskus (5–29%)
Facial asymmetry	Joskus (5–29%)
Frontal bossing	Joskus (5–29%)
High palate	Joskus (5–29%)
Little lower jaw	Joskus (5–29%)
Long, narrow head	Joskus (5–29%)
Sloping forehead	Joskus (5–29%)
Upward slanting of the opening between the eyelids	Joskus (5–29%)

Abnormality of the eye

Trait	Kuinka usein sitä esiintyy
Abnormality of the eye	Joskus (5–29%)
Abnormality of vision	Joskus (5–29%)
Abnormally small eyeball	Joskus (5–29%)
Absent iris	Joskus (5–29%)
Absent/small iris	Joskus (5–29%)
Amaurosis fugax	Joskus (5–29%)
Astigmatism	Joskus (5–29%)
Bulging eye	Joskus (5–29%)
Clouding of the lens of the eye	Joskus (5–29%)
Cross-eyed	Joskus (5–29%)
Drooping upper eyelid	Joskus (5–29%)
Involuntary, rapid, rhythmic eye movements	Joskus (5–29%)
Partial loss of field of vision	Joskus (5–29%)
Visual impairment	Joskus (5–29%)
Wide-set eyes	Joskus (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kuinka usein sitä esiintyy
Abnormality of blood and blood-forming tissues	Hyvin usein (80–99%)
Decreased blood leukocyte number	Hyvin usein (80–99%)
Low number of red blood cells or hemoglobin	Hyvin usein (80–99%)
Low platelet count	Hyvin usein (80–99%)
Pyridoxine-responsive sideroblastic anemia	Hyvin usein (80–99%)
Acute myeloid leukemia	Usein (30–79%)
Gastrointestinal bleeding	Usein (30–79%)
B Acute Lymphoblastic Leukemia	Joskus (5–29%)
Increased red blood cells	Joskus (5–29%)
Myelodysplasia	Joskus (5–29%)
Reduced von Willebrand factor activity	Joskus (5–29%)
T-cell acute lymphoblastic leukemias	Joskus (5–29%)
Bone marrow failure	Ei kirjattu

Abnormality of the cardiovascular system

Trait	Kuinka usein sitä esiintyy
Abnormal cardiac septum morphology	Usein (30–79%)
Swollen lymph nodes	Usein (30–79%)
Abnormal aortic morphology	Joskus (5–29%)
Abnormal aortic valve morphology	Joskus (5–29%)
Abnormal carotid artery morphology	Joskus (5–29%)
An opening in the wall separating the top two chambers of the heart	Joskus (5–29%)
Arteriovenous malformation	Joskus (5–29%)
Cardiac diverticulum	Joskus (5–29%)
Enlarged and thickened heart muscle	Joskus (5–29%)
Enlarged liver and spleen	Joskus (5–29%)
High blood pressure	Joskus (5–29%)
Patent ductus arteriosus	Joskus (5–29%)
Tetralogy of Fallot	Joskus (5–29%)

Laboratory abnormality

Trait	Kuinka usein sitä esiintyy
Clay colored stools	Hyvin usein (80–99%)
Bloody urine	Usein (30–79%)
Abnormality of creatine metabolism	Joskus (5–29%)
Diabetes mellitus	Joskus (5–29%)
Fever	Joskus (5–29%)
High blood calcium levels	Joskus (5–29%)
High liver enzymes	Joskus (5–29%)
Small amount of blood in urine	Joskus (5–29%)

Abnormality of the integument

Trait	Kuinka usein sitä esiintyy
Abnormal skin pigmentation	Hyvin usein (80–99%)
Irregular hyperpigmentation	Hyvin usein (80–99%)
Patchy loss of skin color	Hyvin usein (80–99%)
Birthmark	Usein (30–79%)
Itching	Usein (30–79%)
Basal cell carcinoma	Joskus (5–29%)
Multiple birthmarks	Joskus (5–29%)

Abnormality of the musculoskeletal system

Trait	Kuinka usein sitä esiintyy
Back pain	Hyvin usein (80–99%)
Low muscle tone	Usein (30–79%)
Scoliosis	Usein (30–79%)
Spasticity and rigidity of muscles	Usein (30–79%)
Flexed joint that cannot be straightened	Joskus (5–29%)
Low solidness and mass of the bones	Joskus (5–29%)
Skeletal tumor	Joskus (5–29%)

Growth abnormality

Trait	Kuinka usein sitä esiintyy
Prenatal growth deficiency	Aina
Short stature	Hyvin usein (80–99%)
Weight loss	Hyvin usein (80–99%)
Faltering weight	Usein (30–79%)
Growth delay	Joskus (5–29%)

Abnormality of the endocrine system

Trait	Kuinka usein sitä esiintyy
Abnormality of the hypothalamus-pituitary axis	Joskus (5–29%)
Decreased activity of gonads	Joskus (5–29%)
Neoplasm of the thyroid gland	Joskus (5–29%)
Noncancerous tumor in pituitary gland	Joskus (5–29%)

Abnormality of the ear

Trait	Kuinka usein sitä esiintyy
Abnormally shaped ears	Joskus (5–29%)
Hearing abnormality	Joskus (5–29%)
Hearing impairment	Joskus (5–29%)

Constitutional symptom

Trait	Kuinka usein sitä esiintyy
Chronic fatigue	Hyvin usein (80–99%)
Fatigue	Hyvin usein (80–99%)
Malaise	Joskus (5–29%)

Abnormal cellular phenotype

Trait	Kuinka usein sitä esiintyy
Abnormality of chromosome stability	Hyvin usein (80–99%)
Chromosomal breakage induced by crosslinking agents	Ei kirjattu

Abnormal tissue mass

Trait	Kuinka usein sitä esiintyy
Abnormal tissue mass	Hyvin usein (80–99%)
Cancer of skin pigment cells	Joskus (5–29%)

Abnormality of the breast

Trait	Kuinka usein sitä esiintyy
Breast cancer	Usein (30–79%)
Breast tumor	Ei kirjattu

Abnormality of the respiratory system

Trait	Kuinka usein sitä esiintyy
Lung cancer	Joskus (5–29%)
Breathing difficulty	Harvinainen (1–4 %)

Abnormality of prenatal development or birth

Trait	Kuinka usein sitä esiintyy
Low levels of amniotic fluid	Joskus (5–29%)

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

The Human Phenotype Ontology, release 2026-09-01: the traits linked to BRCA2 and how often each is seen. Find out more at hpo.jax.org.

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